Input: RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: Stratified analyses and interaction models, using generalized estimating equations (GEEs), were used to explore interactions between lead and hemoglobin, and DRD2 Taq IA categories [homozygous variant (A1) vs. presence of wild-type allele (A2)].

hemoglobin


Input: Since there is no previous report that supports a possible role of GRO-α/CXCR2 receptor complex during inflammation and neovascularization existing in the autoimmune disease Sjögren' s syndrome (SS), in this study, we examined CXCR2 and its ligand GRO-α expression in SS tissues.

autoimmune disease


Input: These results suggest that ERK1/2 pathway is involved in the up-regulation of VEGF expression ionizing radiation mediated by AP-1, which may lead to further neovascularization and proliferation of glioblastoma cells resistant to radiation therapy.

neovascularization


Input: We found that hypoxia significantly enhances the inflammatory effect of CD40L in both endothelial and monocytic cells (THP1).

hypoxia


Input: Expansion and contraction of HIV-specific CD4 T cells with short bursts of viremia, but physical loss of the majority of these cells with sustained viral replication.

viremia


Input: We hypothesize that therapeutic upregulation of hypermethylated in cancer 1 may provide an important means of targeting ecotropic viral integration site 1-positive cancers.

viral integration site 1

cancers


Input: The expression analysis of XCI-related genes revealed that the XIST and SATB1 expression was downregulated in 36% and 46% of 11 leiomyoma specimens, respectively, while the HNRNPU and SMCHD1 expression was not altered.

leiomyoma


Input: Connective tissue growth factor increased by hypoxia may initiate angiogenesis in collaboration with matrix metalloproteinases.

Connective tissue growth factor

hypoxia


Input: In conclusion, GSTP1 A/G gene polymorphism is not associated with the susceptibility of squamous cell carcinomas, adenocarcinomas, small cell carcinoma, non-small cell carcinoma or large cell carcinoma.

small cell carcinoma


Input: Consistent comigration of the rearranged EWS and WT1 bands in multiple enzyme digests indicated fusion of the genomic sequences, presumably due to the translocation t (11; 22) (p13; q12).

EWS

translocation


Input: The t (11; 22) (p13; q12) chromosomal translocation that defines DSRT produces a chimaeric protein containing the potential transactivation domain of the Ewing-sarcoma protein (EWS) fused to zinc fingers 2-4 of the Wilms tumour suppressor and transcriptional repressor WT1 (refs 2, 3).

EWS

chromosomal translocation


Input: Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.

factor IX

hemophilia B

factor IX

hemophilia B


Input: A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

NRAS

Schimmelpenning syndrome

NRAS

Schimmelpenning syndrome


Input: Whereas CDC25A overexpression is observed in various human cancer tissues, it has not been determined whether deregulated CDC25A expression triggers or promotes tumorigenesis in vivo.

tumorigenesis


Input: A total of four single nucleotide polymorphisms (SNPs) in the genes UCP1, UCP2, UCP3, and ADRB1 were examined for association with obesity and insulin sensitivity (HOMA (IR)) in obese (n = 292) and healthy non-obese (n = 481) females.

insulin sensitivity


Input: Secondary objectives are to identify potential mechanisms for ROS increases and to evaluate whether ROS increase uncoupling protein (UCP)-2, a mitochondrial protein that promotes ATP depletion and necrosis.

UCP

necrosis


Input: Seven dysplastic ACF harbored beta-catenin mutations at codon 32, 34, or 36 in exon 2, and one had an Apc mutation at the boundary of intron 10 and exon 11.

beta-catenin

ACF

beta-catenin

ACF


Input: Phenotypically, papF and papG mediate digalactoside [alpha-D-Galp-(1----4)-beta-D-Galp)-specific adhesion.

Galp

adhesion


Input: We undertook this study to explore the importance of PAR-2 activation in 4 murine models of arthritis and to analyze the expression of PAR-2 in human arthritic synovium.

PAR

arthritis


Input: We examined whether common single nucleotide polymorphisms (SNPs) in the AQP7 gene modulate the risk of obesity and related abnormalities.

AQP7 gene

abnormalities


Input: RESULTS: The combination of the IL-13, IL-13Rα1, and CTLA4 polymorphisms was selected through MDR analysis of the data pertaining to children with atopic and non-atopic asthma (accuracy = 0. 5459, cross validation consistency (CVC) = 10/10).

atopic


Input: The observation that breast tumors arising in a double heterozygote show biallelic inactivation of either BRCA1 or BRCA2, but not both, suggests that these genetic events are functionally equivalent in initiating tumorigenesis.

tumorigenesis


Input: To clarify the role of inflammation in the pathogenesis of small vessel disease of the brain, we investigated the association between common variation in the C-reactive protein (CRP) and interleukin (IL)-6 genes, plasma CRP and IL6 levels, and presence of MRI-defined white matter lesions (WML) and brain infarcts (BI) in elderly participants of the Cardiovascular Health Study.

MRI

inflammation


Input: Two distinct deleterious mutations (c. 502A & gt; G and c. 666_676 + 1del12) identified in an unrelated PN patient confirmed that the C16orf57 gene is responsible for PN.

PN

PN


Input: Similarly, high CPE-ΔN mRNA copy numbers in resected pheochromocytomas/paragangliomas (PHEOs/PGLs), rare neuroendocrine tumors, accurately predicted future metastasis or recurrence.

PGLs

metastasis


Input: Three single nucleotide polymorphisms (SNPs) of LPL designated as Ser447stop, HindIII and PvuII were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method in 273 prostate cancer patients, 205 benign prostatic hyperplasia (BPH) patients and 230 male controls.

LPL

benign prostatic hyperplasia


Input: The negative effects of smoke on birth weight is more marked in AK11 mothers than in AK1 * 2 carriers.

birth weight


Input: However, it is unclear whether the NF-κB/intercellular adhesion molecule-1 (ICAM-1) pathway is involved in the adhesion of neutrophils and renal injury after hypoxia-ischemia (HI) in neonates.

NF-κB

adhesion


Input: Increased activity of GGT correlates with adverse prognosis in patients with breast cancer.

GGT

breast cancer


Input: High ANCCA expression was positively correlated with the International Federation of Gynecology and Obstetrics (FIGO) stage, histological grade, depth of myometrial invasion, lymph node metastasis, lymph vascular space involvement, and recurrence but not with age and histological type.

ANCCA

lymph node metastasis


Input: We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.

Myhre syndrome

Myhre syndrome


Input: However, the protein expression of TLR3 and TLR4 was significantly increased in depressed suicide victims, but not in depressed non-suicide subjects compared with controls.

suicide


Input: In our series, we did not find an association between SSNHL and abnormal levels of antithrombin III, protein C, protein S, D-dimer, or fibrinogen; activated protein C resistance; or factor V G1691A, prothrombin G20210A, or MTHFR C677T mutations.

antithrombin III

fibrinogen


Input: Kv1. 3 voltage-gated K (+) channel subunit as a potential diagnostic marker and therapeutic target for breast cancer.

Kv1. 3

breast cancer


Input: This enabled us to dissect the molecular functions of intracellular and extracellular LOXL2s and examine their contributions to breast cancer metastasis/invasion.

breast cancer

breast cancer


Input: distinct clones of translocation) was found among cervical carcinoma at the different stages (IB1, IIA and IIB).

translocation


Input: These results suggest that hypermethylation of HOXB13 is a late event of breast tumorigenesis and a poor prognostic indicator of node-positive cancer patients.

tumorigenesis


Input: This study explored the polymorphisms of TIM3 gene in 535 patients with HBV-related liver diseases including 213 chronic hepatitis, 178 cirrhosis and 144 HCC, 72 HBV infection resolvers and 182 healthy controls and analyzed the effects of these polymorphisms on the disease susceptibility and HCC traits.

HCC

chronic hepatitis


Input: An mtDNA mutation, 14453G--& gt; A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

NADH dehydrogenase subunit 6

MELAS syndrome

NADH dehydrogenase subunit 6

MELAS syndrome


Input: The mutation rate of genes other than mismatch repair or p53 is the same in colon cancer and in normal cells, indicating that a' mutator phenotype', increasing the rate of mutations in many genes, is not an essential feature of sporadic cancers; conversely, fusion genes, TEL-AML1/AML1-ETO, typical of leukemia, are 100 times more frequent at birth than in overt leukemia in children, indicating that further selective events are needed to cause malignancy.

sporadic


Input: As noted in a previous report, MUC1-CT was recruited to genomic regions upstream of the connective tissue growth factor (CTGF) accompanied with β-catenin and p53, resulting in the hypoxic induction of CTGF.

CTGF

hypoxic


Input: This study explores the effect of LOX on invasion and migration of NSCLC cells under hypoxic conditions.

LOX

hypoxic


Input: This study aimed at establishing bacterial flagellin-recognizing toll-like receptor 5 (TLR5) as a novel link between gut microbiota composition, adipose tissue inflammation, and obesity.

inflammation


Input: In a murine itch model, ET-1-induced scratching behavior was substantially augmented by pharmacological ECE-1 inhibition and abrogated by treatment with an ERK1/2 inhibitor.

itch


Input: Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.

hydroxymethylbilane synthase

Acute intermittent porphyria

hydroxymethylbilane synthase

Acute intermittent porphyria


Input: We analyzed NF2 gene promoter methylation in 35 sporadic VS by methylation-specific PCR.

NF2 gene

sporadic


Input: Neurological examination of all nine subjects from three generations harboring the novel cav-3 mutation showed clear evidence of rippling muscle disease.

rippling muscle disease

rippling muscle disease


Input: They suggest that loss of Cdx2 expression or transcriptional activity is an infrequent event during tumorigenesis, which does not contribute to molecular mechanisms underlying initiation and progression of most colorectal tumors.

tumorigenesis


Input: The association of apolipoprotein E (APOE) genotypes with bone mineral density (BMD) and risk of osteoporosis have remained unclear.

APOE

bone mineral density


Input: Mutations in PINK1 and DJ-1 are less common, accounting for-1-8%, and-1-2% of the sporadic cases with early-onset.

sporadic


Input: Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.

IWC

IWC


Input: LRRC4/NGL-2 regulates neurite outgrowth and lamina-specific dendritic segmentation, suggesting that LRRC4/NGL-2 is important for the development of the nervous system.

NGL

nervous system


Input: By Cox relative hazard analysis, both SPP1-ht2 and-1, 800G > T were associated with age of HCC occurrence among chronic hepatitis patients, e. g.

HCC

chronic hepatitis


Input: Genomic DNAs were extracted from formalin-fixed, paraffin-embedded liver tissues obtained at surgery or autopsy in 3 normal individuals and 96 patients with hepatitis C virus-induced chronic liver disease; 3 with chronic hepatitis, 20 with liver cirrhosis and 73 with HCC.

HCC

chronic hepatitis


Input: It thus appears that the expression of the RLF gene and its products are down-regulated in Leydig cell hyperplasia and adenoma, consistent with a concomitant dedifferentiation of these cells.

RLF gene

adenoma


Input: When joint effects of endotoxin exposure and smoking were considered, the effect modification of TNF and LTA polymorphisms was prominent in never smokers.

TNF

smoking


Input: A single 40_63del24 mutation in COL4A3 seems to result in mild or no renal manifestations, whereas the homozygous state of 40_63del24 in COL4A3 gene or compound heterozygous mutation of 40_63del24 plus another nonsense or frameshift mutation in COL4A3 gene seems to result severe ARAS with hearing loss.

COL4A3 gene

mild


Input: Thus, altered CDC42 signaling via CDC42EP3 may perturb synaptic plasticity and contribute to the spine deficits observed in layer 3 pyramidal neurons in schizophrenia.

schizophrenia

schizophrenia


Input: To investigate whether the loss of MSH2 was a common feature of liposarcoma, we examined the MSH2 expression in an additional two sporadic liposarcomas, both of which were stained with anti-MSH2 antibody.

sporadic


Input: We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause similar pain syndrome to our findings, and we mapped the genetic locus to a 7. 81 Mb region on chromosome 3p22. 3-p21. 32.

pain syndrome


Input: Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T.

FA

FA


Input: We also provide evidence that ATM protein binds to p53 and this association is defective in A-T cells compatible with the defective p53 response in these cells.

ATM

A-T

ATM

A-T


Input: Hypermethylation of tumor suppressor genes (TSG) is thought to play an important role in tumorigenesis of prostate cancer.

TSG

prostate cancer


Input: Prorenin induces ERK activation in endothelial cells to enhance neovascularization independently of the renin-angiotensin system.

ERK

neovascularization


Input: This study shows that a significant proportion of sporadic VS (> 40%) have unmethylated wild-type NF2 genes.

NF2 genes

sporadic


Input: Our aim was to verify if the triad KL-NFKB1-TNF is also dysregulated in temporal lobe epilepsy associated with hippocampal sclerosis (TLE (HS)) patients.

temporal lobe epilepsy


Input: Endogenous REDD1 is required for both dissociation of endogenous TSC2/14-3-3 and inhibition of mTORC1 in response to hypoxia.

dissociation


Input: In SON, a significant increase in both VP and OT mRNA expression was observed 6 h after dehydration reaching a peak at 24 h and returning to basal levels of expression at 72 h. In the PVN, an increase in both VP and OTmRNA expression occurred 24 h after dehydration.

SON

dehydration


Input: Fetal growth restriction (FGR) is associated with thrombosis of the placenta and an increased risk of subsequent vascular disease in the mother and fetus.

FGR

vascular disease


Input: CONCLUSION: Because tumor growth is often associated with an increase of LPA concentration in ascites, stimulation of VEGF production in PMC might have an important role in the growth of cancer cells disseminated in the peritoneal cavity.

LPA

ascites


Input: The association between silicosis and pulmonary tuberculosis (PTB) has been well established.

PTB

silicosis


Input: Interleukin (IL)-12-driven primary hypothyroidism: the contrasting roles of two Th1 cytokines (IL-12 and interferon-gamma).

primary hypothyroidism


Input: Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.

hemolysis


Input: She subsequently developed a rapidly progressing T-cell leukaemia, with a CD4 + CD8 + T-cell phenotype, about five years after the first appearance of additional chromosome translocations in the clone cells.

leukaemia


Input: To evaluate the effects on IAP of vitamin E administration in adolescents with type 1 diabetes and early signs of microangiopathy, 12 adolescents (aged 11-21 y; diabetes duration 10-18) were studied.

IAP

microangiopathy


Input: In this study we analyzed a series of 33 BRCA1, 22 BRCA2, and 128 sporadic tumors by RNA profiling to investigate the classification potential of RNA profiles to predict BRCA1/2 mutation status.

sporadic


Input: P-STAT1 in the liver tissue prior to IFN therapy correlated with an increased BMI and increased insulin resistance, and might be a useful predictor of HCV clearance by IFN therapy.

IFN

insulin resistance


Input: These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.

metastasis

metastasis


Input: Interestingly, overexpression of caveolin-1 restores cellular senescence in both A549 and H460 lung cancer cells and inhibits their transformed phenotype.

lung cancer

lung cancer


Input: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

distal hereditary motor neuropathy type V

distal hereditary motor neuropathy type V


Input: Many studies have shown that p53 loss is an important risk factor for malignant adrenocortical tumour onset and it has been reported that somatic mutations in TP53 gene occur in 27 to 70% of adult sporadic ACCs.

TP53 gene

sporadic


Input: We found that ATGL knockdown enhanced monocyte adhesion via increased expression of TNFα-induced intercellular adhesion molecule-1 (ICAM-1).

ATGL

adhesion


Input: The frequency of susceptible IL10-ht2 was much higher in HCC patients and significantly increased in order of susceptibility to HBV progression from chronic hepatitis to liver cirrhosis and HCC among hepatitis B patients.

HCC

chronic hepatitis


Input: No interference by the international normalized ratio, activated partial thromboplastin time (aPTT), protein S activity, fibrinogen and factor VIII (FVIII) levels, or lupus anticoagulant ratio was detected.

FVIII

fibrinogen


Input: In this issue of Blood, Rumi et al and Rotunno et al demonstrate that essential thrombocythemia (ET) patients with calreticulin mutations exhibit lower leukocyte and hemoglobin values, higher platelet counts, and a lower thrombosis risk vs JAK2-mutated ET.

hemoglobin


Input: Analysis of the regulation of c-jun, jun-B, and c-fos RNA transcript expression was performed in human primary melanocytes and metastatic melanoma cell strains.

c-jun

metastatic melanoma


Input: To examine ART-27 loss in prostate cancer progression, immunohistochemistry was conducted on a tissue array containing samples from primary tumors of individuals who were clinically followed and later shown to have either recurrent or nonrecurrent disease.

prostate cancer

prostate cancer


Input: Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.

acid ceramidase

Farber disease

acid ceramidase

Farber disease


Input: The presence of Epstein-Barr virus does not seem to be a good marker for distinguishing between NK/T lymphoma and PTL involving the nasal region.

PTL

lymphoma


Input: These included the intermediate filament protein nestin, which was up-regulated in the infarct border zone.

intermediate filament protein

infarct


Input: We have established that HMIA associated with a TTC7A defect is characterized by multiorgan impairments.

HMIA

HMIA


Input: Six differentially regulated genes (DRGs) (FOSL1, SRF, JUN, TFAP4, SOX9, and HLF) and 16 transcription factor-to-target differentially co-expressed gene links or pairs (TF2target DCLs) appear to be the key differential factors in MDD; in contrast, one DRG (PATZ1) and eight TF2target DCLs appear to be the key differential factors in SSD.

MDD

MDD


Input: Loss of the SFRP1 protein can potentially activate the WNT pathway and this analysis highlighted hypermethylation of several other WNT pathway regulating genes and demonstrated a poorer survival outcome for patients with somatic mutation of these genes.

somatic mutation


Input: Preoperative sera of 36 patients with ovarian cancer and of 16 with benign tumors were analyzed using commercially available copy number assay kits to measure the cfDNA level of genes including beta-2-microglobulin (B2M), member RAS oncogene family (RAB25), claudin 4 (CLDN4) and ATP-binding cassette subfamily F member 2 (ABCF2).

benign tumors


Input: In our study, medication-free subjects with fully remitted major depression underwent a paradigm of catecholamine depletion, via use of the tyrosine hydroxylase inhibitor alpha-methylparatyrosine.

tyrosine hydroxylase

major depression

tyrosine hydroxylase

major depression


Input: Heterozygous CBP-deficient mice showed increased insulin sensitivity and were completely protected from body weight gain induced by a high-fat diet.

CBP

body weight gain


Input: The association between polymorphisms in serotonergic genes (SERT and 5-HT2A, 5-HT2C) suggests that these genetic factors can modulate vulnerability to puerperal psychosis in female bipolar participants.

puerperal psychosis


Input: Consistent with the patient' s mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC.

AHC

AHC


Input: Previous studies demonstrated that not only CCR5 expression was altered in autoimmune and hypersensitivity disorders, but also that the mutation is associated with the diseases.

hypersensitivity


Input: The density of FGF-2 mRNA + cells in CA4 was reduced in depression compared to controls.

depression

depression


Input: The serum anti-p53 antibody in 86 patients with HCC, 20 with chronic hepatitis (CH) and 20 with liver cirrhosis (LC) was measured by an enzyme-linked immunosorbent assay (ELISA).

HCC

chronic hepatitis


Input: Transfection of siRNA-targeting SEMA3B and SEMA3F in endometrial cancer cells attenuated P4 or 1, 25 (OH) (2) D (3)-induced growth inhibition.

endometrial cancer

endometrial cancer


Input: In a total of 123 Danish and Czech women with recurrent miscarriage, serum was investigated for six different APL antibodies including anticardiolipin (ACL) antibody.

ACL

recurrent miscarriage


Input: Two haplotypes (MICA: A5-C1_4_1: 5; P = 0. 002; OR 2. 63, 95% CI 1. 46-4. 74 and MICB: CA16-C1_4_1: 3; P = 0. 014; OR 0. 68, 95% CI 0. 50-0. 92) showed significant differences between periodontitis patients and controls.

MICB

periodontitis


Input: Ex-vivo colon culture experiments indicated that IL-22 was able to induce Th1-like inflammation via signal transducer and activator of transcription factor-1 (STAT1) and CXCL10 induction in the presence of type I interferon (IFN).

inflammation


Input: WISP-1 seems to act as a tumor suppressor and WISP-2 as a factor that stimulates aggressiveness; WISP-3 has no definable beneficial or detrimental role.

aggressiveness


Input: Lung injury and inflammation were assessed and pulmonary and hepatic CYP1A1 and CYP1A2 levels were quantified at the enzyme activity, protein and mRNA level.

Lung injury

Lung injury


Input: These results provide evidence that prenatal exposure to DBP can lead to combined anorectal and urogenital malformations as well as dysplasia of the testes.

DBP

malformations


Input: At the same level of DOCA-salt hypertension, the SHR. BN-D1Mit3/Igf2 congenic strain showed significantly greater proteinuria and histologically assessed renal vascular and glomerular injury than the SHR progenitor strain.

proteinuria


Input: The possible role of EZH2 and DNMT1 polymorphisms in sporadic triple-negative breast carcinoma in southern Chinese females.

sporadic


Input: We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c. 1836_1837insT, and one nonsense mutation, c. 599C & gt; A (p. S200X), in an infantile patient, and one deletion mutation, c. 1911 + 1_1911 + 5delGTAAG, and one missense mutation, c. 2041G & gt; A, in an adult late-onset patient.

GALC

Krabbe disease

GALC

Krabbe disease


Input: In addition, the ME of B. microstachya (3--300 mg kg (-1), i. p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3. 2 microg/paw), substance P (13. 5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20. 5, 17. 9, 101. 8, 54. 2 and 99. 7 mg kg (-1), respectively.

substance P

hyperalgesia

substance P

hyperalgesia


Input: Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal.

MRI

enlargement


Input: Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported.

17 beta-HSD 3 deficiency

17 beta-HSD 3 deficiency


Input: Dose dependent effects of intravenous NaIO3 (20-70 mg/kg) on development of retinal degeneration (fundus photography) and RPE and retinal neuronal loss (histology) were determined in wild type and αB crystallin knockout mice.

RPE

retinal degeneration


Input: GPX1 Pro (198) Leu polymorphism, erythrocyte GPX activity, interaction with alcohol consumption and smoking, and risk of colorectal cancer.

smoking


Input: The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes.

MIM

spastic paraplegia


Input: Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

Romano-Ward syndrome

Romano-Ward syndrome


Input: Repression of JAK2 transcription by G9a decreased H3Y41 phosphorylation and promoted inhibition of the recently identified JAK2-H3Y41P-HP1α pathway-mediated leukemogenesis.

leukemogenesis


Input: Recent studies have indicated that the immune mediator CD40-CD40L (CD40 ligand), which is expressed on several inflammatory cells within human atherosclerotic lesions, has roles in atherogenesis.

CD40 ligand

atherogenesis


Input: We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes.

CS

CS


Input: Further investigation revealed that only EDEM1 and EDEM3 bind with SEL1L, an ER membrane adaptor protein involved in translocation of ERAD substrates from the ER to the cytoplasm.

translocation


Input: Moreover, FATP4 and CD36 expression levels correlated with measures of obesity and insulin resistance that are influenced by both genetic and non-genetic factors (FATP4 versus BMI: r = 0. 53, p = 0. 0001; FATP4 versus body fat: r = 0. 51, p = 0. 002; FATP4 versus homeostasis model assessment [HOMA]: r = 0. 49, p = 0. 001; CD36 versus BMI: r = 0. 50, p = 0. 02; CD36 versus body fat: r = 0. 63, p = 0. 001; CD36 versus HOMA: r = 0. 34, p = 0. 06).

insulin resistance


Input: These findings establish MTDH as an important therapeutic target for simultaneously enhancing chemotherapy efficacy and reducing metastasis risk.

MTDH

metastasis

MTDH

metastasis


Input: FOXE1 and NKX2-1 are two known genetic risk factors for the predisposition to sporadic papillary thyroid carcinoma (PTC) in Europeans, but their association in other ethnicities is still unknown.

sporadic


Input: One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.

ABCR

ABCR


Input: Early-onset Alzheimer' s disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤ 65 years of age.

FAD

sporadic


Input: We here describe an overexpression of MIF in ovarian cancer that correlates with malignancy and the presence of ascites.

MIF

ascites


Input: The deleted in colorectal cancer (DCC) protein is an adhesion family molecule of unequivocal importance in neural development that has also been implicated in several malignancies, including neuroblastoma, through its apparent loss of function.

DCC

adhesion


Input: This study reports a set of dizygotic twins with CH due to the mutations in the DUOX2/DUOXA2 system.

dizygotic twins


Input: Thyroid tumor cell lines (BCPAP [papillary thyroid cancer] and ML-1 [follicular thyroid cancer]) were cultured with estradiol with and without an estrogen receptor (ER) inhibitor (fulvestrant or ICI) and used to treat human umbilical vein endothelial cells (HUVECs).

follicular thyroid cancer


Input: The presence of a P53 mutation in 80% of these cancers indicates that P53 mutation is common but not required for BRCA-linked ovarian tumorigenesis; notably, a significantly higher proportion of the P53 mutations in BRCA2-linked cancers were deletions or insertions compared with the more typical spectrum of missense mutations seen in BRCA1-linked cancers.

tumorigenesis


Input: Increased endothelial nitric-oxide synthase expression reduces hypertension and hyperinsulinemia in fructose-treated rats.

endothelial nitric-oxide synthase

hyperinsulinemia

endothelial nitric-oxide synthase

hyperinsulinemia


Input: An increase of HIC to greater than 3 times the upper limit of normal is highly unlikely in hyperferritinemic subjects who do not have HFE-related hereditary hemochromatosis or causes of secondary iron overload.

HIC

secondary


Input: Cysteine-rich 61 (Cyr61), a member of the CCN protein family, possesses diverse functionality in cellular processes such as adhesion, migration, proliferation, and survival.

adhesion


Input: Neurotensin, calcitonin gene-related peptide, and neuropeptide Y exhibited no physiologically significant changes in heart rate.

calcitonin gene-related peptide

heart rate


Input: Here, we demonstrate that 1-year-old Kcne2 (-/-) mice in a pathogen-free environment all exhibit a severe gastric preneoplastic phenotype comprising gastritis cystica profunda, 6-fold increased stomach mass, increased Ki67 and nuclear Cyclin D1 expression, and TFF2-and cytokeratin 7-expressing metaplasia.

metaplasia


Input: Moreover, we observed that TTK silencing led to an increase in H2AX phosphorylation, activation of caspases 3/7, sub-G1 cell population accumulation and high annexin V staining, as well as to a decrease in G1 phase cell population and an increased aneuploidy.

annexin V

aneuploidy


Input: Acid-labile subunit deficiency due to IGFALS mutations is a rare cause of growth retardation in children.

IGFALS

Acid-labile subunit deficiency

IGFALS

Acid-labile subunit deficiency


Input: cDNA microarray and Western blot analyses reveal that the gap junctional intracellular communication molecule connexin 43 (Cx-43), known to be involved in tumor cell diapedesis and attachment to endothelial cells, is significantly decreased after PAR-1 silencing in metastatic melanoma cell lines.

connexin 43

metastatic melanoma


Input: The level of SRIF in the SME was lower and the plasma concentration of GH was higher in the depression-model group than in the other groups.

GH

depression

GH

depression


Input: During the last two decades, NPY body fluid concentrations and NPY/PYY brain receptor numbers have been demonstrated to be altered during the course of Alzheimer' s disease.

PYY

Alzheimer' s disease

PYY

Alzheimer' s disease


Input: Zebrafish with genetic knockdown of mybpc3 by morpholino showed ventricular hypertrophy with increased myocardial wall thickness and diastolic heart failure, manifesting as decreased ventricular diastolic relaxation velocity, pericardial effusion, and dilatation of the atrium.

dilatation


Input: Although autoimmunity against MOBP has been associated with multiple sclerosis pathogenesis, anti-MOBP pathogenic T cells have been poorly investigated as compared to T cells against other encephalitogenic myelin proteins.

MOBP

autoimmunity


Input: Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.

SAGE

mesothelioma


Input: Knockdown of ornithine decarboxylase antizyme 1 causes loss of uptake regulation leading to increased N1, N11-bis (ethyl) norspermine (BENSpm) accumulation and toxicity in NCI H157 lung cancer cells.

ornithine decarboxylase antizyme 1

lung cancer


Input: AIM: MATERIAL AND METHODOLOGY: Our study included 108 cases of non-small cell lung cancer who were admitted in our hospital.

AIM

non-small cell lung cancer


Input: DNA from 886 Caucasian participants (198 non-reflux controls, 305 RE, 254 BE, 129 EAC) was collected for the determination of the Myo9B gene polymorphism (rs2305764).

Myo9B gene

reflux


Input: To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.

spinal muscular atrophy


Input: We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEB-Pr and in a patient previously reported with sporadic DEB-Pr.

COL7A1 gene

sporadic


Input: p53 expression was detected in 20/26 (77%) BRCA1-, 10/22 (45%) BRCA2-associated and 25/72 (35%) grade-matched sporadic tumours.

sporadic


Input: More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR).

SMC

arms


Input: Because anti-human antibodies developed in these mice, LDLR (-/-)/low-density lipoprotein receptor Rag 1 double-knockout mice (lacking the ability to make immunoglobulins due to loss of T-and B-cell function) were treated with an adenoviral vector encoding adenovirus expressed (Adv)-IK17-scFv or control adenovirus-enhanced green fluorescent protein vector intravenously every 2 weeks for 16 weeks.

LDLR

adenovirus


Input: Cellular damage by oxygen free radicals is a primary driving force for aging and increased activation of redox-regulated transcription factors, such as NF-kappaB that regulate the expression of pro-inflammatory molecules, has been documented in aged animals/individuals versus their young counterparts.

NF-kappaB

aging


Input: We examined the association of insulin resistance and MetSyn with coronary artery calcification (CAC) in 840 asymptomatic nondiabetic subjects.

CAC

coronary artery calcification


Input: Altogether, our data suggest that MHA, SBS, FTNS, EPS, and APSM comprise a phenotypic spectrum of disorders, all caused by MYH9 mutations.

MHA

MHA


Input: Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.

HNPCC

colorectal cancer

HNPCC

colorectal cancer


Input: We examined the expression of nape-pld mRNA, CB1 and FAAH in human placenta hypothesizing that their altered signaling may contribute to spontaneous miscarriage.

nape-pld

miscarriage


Input: Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Fuchs corneal dystrophy

Fuchs corneal dystrophy


Input: In the set of HCC versus liver cirrhosis the AUC values were 0. 744 (AFP), 0. 918 (hCE1) and 0. 938 (combination of AFP and hCE1), respectively.

liver cirrhosis


Input: These data suggest an oncodevelopmental link between neoplasia and hyperplasia and demonstrate that CEACAM1 acts as a regulator of apoptosis in the colonic epithelium.

hyperplasia


Input: Krabbe disease is a devastating neurodegenerative disease characterized by widespread demyelination that is caused by defects in the enzyme galactocerebrosidase (GALC).

GALC

demyelination


Input: In addition, coexpression of CD10 and α-SMA markers was observed in the stromal components in 3 APA cases, in line with the results of normal secretory endometrial and adenomyoma samples, suggesting that cells progress to myofibromatous cells in response to differentiation-promoting events.

APA

adenomyoma


Input: We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed.

MPZ

heart rate


Input: In human colon carcinoma Colo205 and HT29 xenografts grown in human endosialin-transgenic mice, endosialin expression was largely confined to NG2-expressing perivascular cells and not CD31-positive endothelial cells.

colon carcinoma


Input: In human breast cancer MCF-7 cells, sera from maternal HFD-exposed Tg offspring elicited changes in PTEN, BCL2 and IL6 gene expression, mimicking in vivo exposure; increased cell viability and mammosphere formation and induced measures [insulin receptor substrate-1 (IRS-1), IRS-2] of insulin sensitivity.

IL6 gene

insulin sensitivity


Input: In this study we performed the genetic analysis of FSHR and LHR and semen investigation in 14 infertile men with normal level of T and elevated levels of FSH and/or LH in the absence of other causes of infertility.

FSHR

infertility


Input: In addition to vascular repair, there is increasing evidence to show that FIR can be applied to a variety of diseases, including cardiovascular disorders, hypertension and arthritis.

FIR

cardiovascular disorders


Input: To substantiate this notion we performed sequence analysis of the SCAD gene in 10 patients with ethylmalonic aciduria and diagnosed with SCAD deficiency in fibroblasts.

SCAD

SCAD deficiency

SCAD

SCAD deficiency


Input: The Ile164 variant of the beta2-adrenoceptor has been shown to alter cardiovascular phenotypes and adversely affect survival in heart failure patients.

heart failure


Input: The location of the OSM gene was determined relative to the t (11; 22) (q24; q12) of Ewing' s sarcoma and found to be distal to the translocation breakpoint on chromosome 22.

OSM gene

sarcoma


Input: We identified a novel PAX8 mutation R52P, dominantly inherited in a three-generation pedigree and leading to non-congenital, early-onset, non-goitre, non-autoimmune hypothyroidism with gradual postnatal regression of the thyroid size and function.

autoimmune hypothyroidism


Input: Reverse transcriptase polymerase chain reaction analysis of the PDZRN3, CNTN3, STXBP5, PVRL3, HSPB8, and CCDC60 genes revealed slight variation in the copy number of transcripts, but without correlation to the chromosomal rearrangements in translocation-associated and sporadic conventional RCCs.

translocation


Input: In the kidney of the FFA-bound BSA-overloaded mouse, which is a well-established experimental model of FFA-associated tubulointerstitial inflammation, mRNA expression of SIRT3 was significantly decreased and negatively correlated with mRNA expression of an inflammatory cytokine, monocyte chemoattractant protein-1 (MCP-1).

inflammation


Input: Analysis of HLA-class-II-encoded antigen-processing genes TAP1 and TAP2 in primary biliary cirrhosis.

primary biliary cirrhosis


Input: We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1.

gene MDR1

genomic instability


Input: Keap1 knockdown inhibited TNF-α-induced expression of intracellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) by suppressing NF-κB activation via inhibition of its upstream modulators, Akt, NIK, and IKK, resulting in the elevation of monocyte adhesion to endothelial cells.

adhesion


Input: Association of IL13 with total IgE: evidence against an inverse association of atopy and diabetes.

atopy


Input: In our present study, the positive rate and the mean optical density (MOD) value of CrkL expression in PTC and PMC tissues were statistically significantly different, compared with nodular goiter (p = 0. 021, 0. 037) and normal thyroid tissues (p = 0. 003, 0. 009), respectively.

CrkL

nodular goiter


Input: No association was seen between systolic blood pressure (SBP) and any of the three genotypes at amino acid position 389 in hypertensive patients, neither between the Ser49Gly polymorphisms and hypertension, nor between the Ser49Gly genotypes and DBP and heart rate.

DBP

systolic blood pressure


Input: Apolipoprotein E expression promotes lung adenocarcinoma proliferation and migration and as a potential survival marker in lung cancer.

Apolipoprotein E

lung cancer

Apolipoprotein E

lung cancer


Input: Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds.

ASD

ASD


Input: Allelic status of 1p, 14q, and 22q and NF2 gene mutations in sporadic schwannomas.

NF2 gene

sporadic


Input: The ex vivo expansion and reinfusion of autologous B10 cells may provide a novel and effective in vivo treatment for severe autoimmune diseases that are resistant to current therapies.

autoimmune diseases


Input: Renal function, diabetes prevalence, systolic blood pressure, heart rate and ejection fraction differed significantly in the high PTX3 (≥ 3. 0 ng/ml, n = 107) and low PTX3 (< 3. 0 ng/ml, n = 418) groups (all p < 0. 05).

systolic blood pressure


Input: INT1 and GLI genes are not rearranged or amplified in benign pleomorphic adenomas with chromosome abnormalities of 12q13-15.

GLI

chromosome abnormalities


Input: Presenilin 2 was identified in primitive islet and duct cells of human foetal pancreas and in proliferating exocrine duct cells in human pancreatitis but not found in islet amyloid deposits in Type 2 diabetic subjects.

Presenilin 2

amyloid deposits


Input: We next exposed pregnant mice to 3μg/kg of TCDD throughout gestation and lactation to elucidate effects of developmental AHR activation on later-life T cell development and T-ALL-like thymoma susceptibility induced by Notch1.

AHR

thymoma


Input: Primary cell cultures were initiated from ascites harvested at surgery which were used to characterize response to MIS.

MIS

ascites


Input: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

CRX

Cone-rod dystrophy

CRX

Cone-rod dystrophy


Input: To test the hypothesis that cardiomyocyte-restricted expression of a known PAO is sufficient to cause heart failure, transgenic mice were created expressing polyglutamine repeats of 83 (PQ83) or 19 (PQ19).

PAO

heart failure


Input: Taken together, our study suggests that EMX2 may have important roles as a novel suppressor in human lung cancer.

lung cancer

lung cancer


Input: Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.

Progranulin

bipolar disorder

Progranulin

bipolar disorder


Input: Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased β-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort.

insulin sensitivity


Input: In particular, 4 genes of them, which were cytochrome C oxidase Va, PPBP, EPHX2 and PON1, were first reported to correlate with tumorigenesis.

PPBP

tumorigenesis


Input: Furthermore, S6K1 overexpression exerts the same effects as Arg-II on endothelial senescence and inflammation responses, which are prevented by silencing Arg-II, demonstrating a role of Arg-II as the mediator of S6K1-induced endothelial aging.

aging


Input: Our data validate the concept of enhanced anti-tumor immunity by repetitive ACT of ex vivo cblb siRNA-silenced hyper-reactive CD8 (+) T cells as add-on adjuvant therapy to augment the efficacy of existing cancer immunotherapy regimens in clinical practice.

tumor immunity


Input: Recently, FOXC1, a forkhead box transcription factor, was identified as a functionally important biomarker of breast cancer aggressiveness and the basal-like breast cancer subtype.

aggressiveness


Input: Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

veno-occlusive disease


Input: This behavior, primarily mediated by stimulation of 5-HT2A receptors, has been proposed to model tic symptoms seen in Tourette' s syndrome (TS).

tic


Input: Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1, 713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).

LMNA

DCM

LMNA

DCM


Input: Our findings support the hypothesis that BDNF and MEK1 mRNA expression levels are more obviously decreased in patients with TRD.

TRD

TRD


Input: Some cases have been described with a phenotype much closer to idiopathic Parkinson' s disease, but it does not appear that PINK1 is a major risk factor for the sporadic disease.

sporadic


Input: Furthermore, inhibition of RRM1 by siRNA significantly reduced the dNTP pool, Ras/Raf and MMP-9 activities and the levels of p-MEK, p-ERK and NF-κB, resulting in growth retardation and reduced invasion in AGS and NCI-N87 cells.

ERK

growth retardation


Input: The results suggest that distinct protein expression patterns, affecting TXNL1 and HDAC2, distinguish aneuploid with poor prognosis from diploid colorectal cancers.

aneuploid


Input: In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorption defect-type renal hypouricemia and in one family with the postsecretory reabsorption defect type.

renal hypouricemia

renal hypouricemia


Input: The diagnosis of UMS was confirmed on mutation analysis of TBX3.

UMS

UMS


Input: Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain which destroyed its ability to bind target DNA.

SOD

SOD


Input: The results found that 51/128 of HCC, 11/76 of chronic hepatitis, 11/22 of liver cirrhosis and 8/54 of nasopharynx cancer patients had antibodies against HCC-22-5.

HCC

chronic hepatitis


Input: Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.

obese

obese


Input: This mutation was a G-to-T transversion, involving the substitution of the normal glycine (GGT) with cystein (TGT) and thought to be a somatic mutation.

TGT

somatic mutation


Input: ESR1 SNPs were analysed for association with adipocyte lipolysis and lipogenesis phenotypes in 204 obese women by simple regression.

regression


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: The exaggerated BPD-like phenotype observed in hyperoxia-exposed LysM-Cre/Foxm1 (-/-) mice was associated with increased expression of neutrophil-derived myeloperoxidase, proteinase 3, and cathepsin g, all of which are critical for lung remodeling and inflammation.

proteinase 3

hyperoxia


Input: The transformation of infected CD4 T cells and the pathogenesis of leukemia have been studied with great limitation in tissue culture and patients.

leukemia


Input: In summary, our data show that dominant mutations in USP8 cause Cushing' s disease via activation of EGF receptor signaling.

Cushing' s disease

Cushing' s disease


Input: These results confirm ATR, MED1, and CHK1 as targets of the mutator pathway in stomach tumorigenesis, and also suggest a potential role of MED1 increasing, together with hMSH3 and hMSH6, the genomic instability in the mutator pathway as a secondary mutator.

tumorigenesis


Input: Patients with severe disease presented higher hemolysis and higher plasma concentrations of Cu/Zn superoxide dismutase (SOD-1) and lower concentrations of PGE (2) and TGF-beta than those with mild disease.

TGF-beta

hemolysis


Input: Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

protective protein/cathepsin A

galactosialidosis

protective protein/cathepsin A

galactosialidosis


Input: In conclusion, high incidence of EBV was observed in PTL among Koreans, with predilection for angiocentric lymphomas and extranodal presentation, especially involving nose, skin, and gastrointestinal tract.

PTL

lymphomas


Input: Knockdown of orai1 with adenovirus harboring orai1 siRNA or inhibition of orai1 Ca (2 +) entry with SKF96365 for 4 weeks dramatically inhibits atherosclerotic plaque development in high-cholesterol diet feeding apolipoprotein E (-/-) mice.

adenovirus


Input: Biochemical analysis of liver extracts isolated from several rats showed that oral administration of BCAA (0. 75g/kg body weight (BW)) induced phosphorylation of 4E-BP1 and stimulated the enzymatic activity of p70 S6K.

body weight


Input: Materials and METHODS: Tumor specimens and adjacent non-neoplastic tongue tissues from 74 patients with tongue carcinoma and human tongue carcinoma cell line Tca8113 were examined using immunohistochemistry and RT-PCR to determine the expressions of Notch1, Notch3, Jagged1, and Jagged2.

non-neoplastic


Input: However, a recent study reported the presence of MMR-deficiency in non-neoplastic colonic crypts in LS; thus the possibility can be raised that these crypts may be tumor precursors, and as such, biallelic loss of MMR may occur prior to neoplasia.

MMR

non-neoplastic


Input: Human monocyte chemoattractant protein (MCP)-4 is a novel CC chemokine with activities on monocytes, eosinophils, and basophils induced in allergic and nonallergic inflammation that signals through the CC chemokine receptors (CCR)-2 and-3.

MCP

inflammation


Input: Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.

infertility


Input: Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.

peroxisome proliferator-activated receptor gamma

ischemia

peroxisome proliferator-activated receptor gamma

ischemia


Input: Our data showed that the presence of cytogenetic aberrations in successfully expanded HM-MSC stromal layers derives from the persistence of contaminating hemopoietic cells (HC), which is greatly supported by in vitro culture conditions that could mimic in vivo microenvironmental niche.

MSC

cytogenetic aberrations


Input: Regulation of DDAH1 by miR-21 plays a role in the development of hypoxia-induced pulmonary hypertension and may be of broader significance in pulmonary hypertension.

hypoxia


Input: Our data suggest that ICs on circulating CD4 + blood lymphocytes are primarily associated with CD4 + lymphocyte depletion whereas the plasma viral load is primarily associated with decreased T lymphocyte activation, lower CD16 + counts, and higher CD8 + DR + lymphocytes which might be the effector cells for virus elimination.

viral load


Input: Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.

Obese

Obese


Input: Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.

epilepsy

epilepsy


Input: NAT2 slow acetylator phenotype or genotype is related to reduced ability to detoxify these xenobiotics that are carcinogenic in tissues in which smoking-related cancers develop (e. g.

smoking


Input: In addition, by comparing sFRP1 methylation status in HCC tumours with normal, cirrhotic and chronic hepatitis liver tissues, we identified sFRP1 gene as a potential early marker of HCC.

HCC

chronic hepatitis


Input: Forty patients with known AD without evidence of autoimmune disease were screened for mutations in MC2R, MRAP and STAR.

autoimmune disease


Input: These findings indicate that ischemia and estradiol act synergistically to promote activation of STAT3 and STAT3-dependent transcription of survivin in insulted CA1 neurons and identify STAT3 and survivin as potentially important therapeutic targets in an in vivo model of global ischemia.

ischemia


Input: We found that the plasma HGF level in LEC rats rose markedly during the fulminant hepatitis phase, fell during the phase of chronic/cholangiofibrosis, and fluctuated during the hepatoma phase.

HGF

fulminant hepatitis


Input: Although the etiology of idiopathic sudden sensorineural hearing loss (SSNHL) remains unclear, the pathologically increased permeability of blood vessels, elucidated by gadolinium-enhanced magnetic resonance imaging (MRI), suggests the involvement of inflammation.

MRI

inflammation


Input: Because of the small size of the series, HFE C282Y mutation should be investigated on a larger scale in patients with HCC in NCL with iron overload in order to confirm this association.

NCL

iron overload


Input: Opposite effects of GSTM1--and GSTT1: gene deletion variants on bone mineral density.

bone mineral density


Input: Patients with myasthenia gravis have antibodies and T cells that react with the beta1-and beta2-adrenergic receptors.

myasthenia gravis


Input: Group II was subdivided into GII-A (chronic hepatitis patients, n = 119), GII-B (post hepatitis cirrhosis, n = 66) and GII-C (HCC on top of cirrhosis, n = 71).

HCC

chronic hepatitis


Input: We found a close relationship between pRB expression and PCNA in non-neoplastic mucosas as well as in gastric carcinomas.

PCNA

non-neoplastic


Input: Claudin 5 showed only weak staining in VIN I and VIN II-III, and positive expression was also low in the carcinoma group.

Claudin 5

carcinoma


Input: Using samples and data from 717 untreated participants in the Swiss HIV Cohort Study and a genome-wide association study design, we searched for human genetic determinants of plasma levels of intestinal fatty acid-binding protein (I-FABP/FABP2), a marker of gut damage, and of soluble CD14 (sCD14), a marker of lipopolysaccharide bioactivity and microbial translocation.

translocation


Input: Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Leigh syndrome

Leigh syndrome


Input: To determine the extent of somatic alteration involving BRCA2 in sporadic ovarian cancer, 50 tumors were analyzed for mutations throughout the entire BRCA2 coding region.

sporadic


Input: Regarding the TP53 Arg72Pro, we showed statistical significance for ProPro + ProArg comparing to ArgArg (OR 2. 34, 95%, CI 1. 17-4. 70) in hereditary compared to sporadic group.

sporadic


Input: Murine CASK is disrupted in a sex-linked cleft palate mouse mutant.

CASK

cleft palate

CASK

cleft palate


Input: In conclusion, lncRNA BANCR plays a significant role in retinoblastoma aggressiveness and prognosis and may act as a promising target for therapeutic strategy and prognostic prediction.

BANCR

aggressiveness


Input: By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

NDI

NDI


Input: Noticeable decrease in microsomal protein level MOS terminal component--cytochrome P-450 and MOS median link--cytochrome b5 contents in microsomal fraction implicated in renal pathologic process was established in development of acute unilateral pyelonephritis.

MOS

pyelonephritis


Input: In the present paper we tested the enrichment of molecular pathways related to inflammatory cascades (IL-1, IL-2, IL-6, IL-8, TNF and INF) testing whether genes related to these systems hold more variations associated with the risk for BD than expected.

TNF

BD

TNF

BD


Input: The effects of t10, c12-CLA and c9, t11-CLA on PTPgamma mRNA expression in human breast epithelial cells and stromal cells, isolated from surgical specimens of mammoplasty and breast cancer patients, were detected and quantified by RT-PCR RESULTS: The PTPgamma mRNA expression was lower in cancer than in normal breast cells.

breast cancer


Input: Collectively, the data argue for a dosage effect of Tg737 on the limb phenotypes and that the polydactyly is independent of Shh misexpression.

polydactyly

polydactyly


Input: Radiation dose was associated with noncardia gastric cancer in subjects with both the LTA 252G-allele and never smoking/quit smoking histories (RR = 3. 8 (95% CI: 1. 7-5. 9), p =. 009).

LTA

smoking


Input: Restoration of ING4 may be a novel strategy for the treatment of metastatic CRC.

CRC

CRC


Input: In this study, we comprehensively characterized the dysplasia, histological malformations, and genetic changes of ARMs & hypospadias in male rats after maternal exposure to di-n-butyl phthalate (DBP) by gastric intubation at doses of 850mg/kg bw/day during GD11-15.

DBP

malformations


Input: The identification of Bmp15 and Gdf9 gene mutations as the causal mechanism underlying the highly prolific or infertile nature of several sheep strains in a dosage-sensitive manner also highlighted the crucial role these two genes play in ovarian function.

Gdf9 gene

infertile


Input: In vitro VEGF exposure of normal PBMC lead to repolarization from Th1 to Th2 emulating the state of metastatic melanoma.

metastatic melanoma


Input: Intratumoral administration of IL-4-PE caused significant regression of established tumors in a dose dependent manner and increased the overall survival without any visible toxicity.

regression


Input: Moreover, we found less mesangial hypertrophy in STZ-treated Gas6 knockout mice than control mice.

STZ

hypertrophy


Input: Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

Membrane cofactor protein

HELLP syndrome

Membrane cofactor protein

HELLP syndrome


Input: Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY).

translocation


Input: Similarly, we found that HMGA1a and COX-2 are overexpressed in human leiomyosarcomas, a highly malignant uterine cancer.

leiomyosarcomas

leiomyosarcomas


Input: None of the tested DENND1A variants were associated with PCOS features (hirsutism, insulin sensitivity, menses pattern, free testosterone, and free androgen index).

hirsutism


Input: Our results have identified miR-210 as a hypoxia-inducible miRNA both in vitro and in vivo, which inhibits pulmonary vascular smooth muscle cell apoptosis in hypoxia by specifically repressing E2F3 expression.

hypoxia


Input: To our knowledge, this is the second report of the translocation involving NUP98 and TOP1 genes in AMoL.

translocation


Input: In conclusion, polymorphisms of GSTT1, EPHX1, MTHFR, MTR and NAT2 differentially affect the frequency of CTAs, CSAs and CTGs, showing interaction with smoking and age.

smoking


Input: A novel t (4; 22) (q31; q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor.

extraskeletal Ewing sarcoma

extraskeletal Ewing sarcoma


Input: Testosterone exposure has been implicated in prostate carcinogenesis, and genes that alter its metabolism, such as CYP3A4, have been associated with prostate cancer susceptibility.

prostate cancer susceptibility


Input: Mutations within the LIM domain gene LHX3 are associated with a recessive phenotype characterised by deficiencies in GH, thyroid-stimulating hormone (TSH), luteinising hormone (LH) and follicle-stimulating hormone (FSH) with sparing of the corticotrophs, in association with a short stiff neck with limited rotation.

stiff neck


Input: To investigate whether PI3K contributes to patterns of risky alcohol drinking in human, we investigated genetic variations in PIK3R1, encoding the 85 kD regulatory subunit of PIK, in 145 family trios consisting of 15-16 year old adolescents and their parents.

alcohol drinking


Input: The effect of Sema3E on prostate cancer cell lines was determined by adhesion assays and transwell migration assays.

adhesion


Input: ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID.

mild


Input: Induction of glucose-regulated protein 78 by chronic hypoxia in human gastric tumor cells through a protein kinase C-epsilon/ERK/AP-1 signaling cascade.

hypoxia


Input: The association of MID1 with OS suggests an important role for this gene in midline development.

OS

OS


Input: Our preliminary results suggest that vaginal progesterone might prevent spontaneous preterm labor through a mechanism involving anti-inflammatory effects on UCFs, particularly suppression of IL-6 production.

preterm labor

preterm labor


Input: Mutations in the FSH receptor (FSHR) could be activating, leading to a predisposition to OHSS, or inactivating, resulting in sterility.

FSHR

sterility


Input: To evaluate the mechanism of fractalkine (FKN)/CX3 CL1 synthesis and shedding in rheumatoid arthritis synovial fibroblasts (RASFs) and in rat adjuvant-induced arthritis (AIA).

arthritis


Input: Dominant-negative Cdc42, introduced with a retroviral vector, resulted in fibers that appeared atrophic.

atrophic


Input: A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

RDS

retinitis punctata albescens

RDS

retinitis punctata albescens


Input: Clinical evaluations including alcohol consumption, percentage of alcohol drinkers, plasma glucose, HbA1c, insulin, AST, ALT, gamma-GTP, and prevalence of diabetes were compared among the ADH2 genotypes.

AST

alcohol consumption


Input: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

fibroblast growth factor receptor-2

Crouzon syndrome

fibroblast growth factor receptor-2

Crouzon syndrome


Input: Olanzapine-induced weight gain is associated with the-759C/T and-697G/C polymorphisms of the HTR2C gene.

weight gain

weight gain


Input: Data about patient characteristics, response to and outcome after primary therapy, including chemotherapy, were collected from 99 BRCA1, 13 BRCA2 and 222 sporadic patients.

sporadic


Input: To determine the frequency and nature of constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma, we analyzed DNA from peripheral blood and from tumor tissue.

retinoblastoma

retinoblastoma


Input: These results indicate that the t (1; 19) translocation converts a nonactivating DNA-binding protein into a potent transcriptional activator, suggesting an unusual mechanism for oncogenic transformation.

DNA-binding protein

translocation


Input: Ectopic miR-125a-3p expression with chemotherapy attenuated silica-induced pulmonary fibrosis.

pulmonary fibrosis

pulmonary fibrosis


Input: Likewise, the defective adenovirus-anti-bcl-2 ribozyme induces extensive apoptosis in several androgen-sensitive (LNCaP) and androgen-insensitive (LNCaP/bcl-2 and PC-3) human prostate cancer cell lines that express differing amounts of bcl-2 protein.

adenovirus


Input: Therefore, we tested the hypothesis that AhR-deficient fetal human pulmonary microvascular endothelial cells (HPMEC) will have decreased RelB activation and AOE, which will in turn predispose them to increased oxidative stress, inflammation, and cell death compared to AhR-sufficient HPMEC upon exposure to hyperoxia.

RelB

inflammation


Input: DRB1 * 0401 and DRB1 * 01 tend to be associated with anti-citrullinated fibrinogen, but this is not statistically significant.

fibrinogen


Input: Daily injection of the antagonist, MCP-1 (9-76), prevented the onset of arthritis as monitored by measuring joint swelling and by histopathological evaluation of the joints.

joint swelling


Input: Here, we studied a rat model of mild-to-moderate SAH intended to minimize ischemia/hypoxia to examine the role of sulfonylurea receptor 1 (SUR1) in the inflammatory response induced by SAH.

hypoxia


Input: By suppressing the phosphoinositide 3-kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway through its lipid phosphatase activity, PTEN governs a plethora of cellular processes including survival, proliferation, energy metabolism and cellular architecture.

plethora


Input: Our results indicate that: 1) the prevalence of K-ras and p53 genetic alterations found in ulcerative colitis-associated colonic carcinomas appears to be lower than in sporadic carcinomas; 2) K-ras mutations can be detected in dysplasia, villous regeneration, and active colitis and affect a subpopulation of the cells composing the lesions; 3) diverse genetic alterations can be detected in the same patient and the dysplastic lesions can exhibit a different genotype than the carcinomas; and 4) at least part of active colitis and villous regeneration lesions should be considered as preneoplastic in ulcerative colitis.

sporadic


Input: Expression of cell cycle-regulating genes was studied in human myeloid leukemia cell lines ML-1, ML-2 and ML-3 during induction of differentiation in vitro.

myeloid leukemia


Input: The majority of the SMC (15) s were shown to have asymmetrical breakpoints, with the two inverted arms of the SMC being unequal in length.

SMC

arms


Input: In conclusion, our data provide evidence that miR-145 is an invasion suppressor in metastatic melanoma cells.

metastatic melanoma


Input: Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Hunter syndrome

Hunter syndrome


Input: Subtle decreases in DNA methylation and gene expression at the mouse Igf2 locus following prenatal alcohol exposure: effects of a methyl-supplemented diet.

prenatal alcohol exposure

prenatal alcohol exposure


Input: In this study, we retrospectively evaluated the prognostic and predictive impact of c-kit in a high risk subgroup of breast cancer patients (> 9 axillary node metastases) who received high-dose (HDCT) or dose-dense (DDCT) conventional chemotherapy and correlated these findings with the expression of the basal-type markers CK5 and CK 17, estrogen (ER) and progesterone (PR) receptor, Her-2/neu and MIB 1.

DDCT

metastases


Input: Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

odonto-onycho-dermal dysplasia

odonto-onycho-dermal dysplasia


Input: Since, the risk of developing gonadoblastoma in TS patients with mosaicism for a Y derivative chromosome and because association of alopecia universalis and TS is uncommon, fluorescence in situ hybridization (FISH) was performed to search for a second cell population.

FISH

gonadoblastoma


Input: Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade of lissencephaly.

YWHAE

Miller-Dieker syndrome

YWHAE

Miller-Dieker syndrome


Input: RPS6KB1 and CDC2 overexpression is common in DLBCL.

DLBCL

DLBCL


Input: These abnormalities may be genetically determined, as suggested by the association of a microsatellite flanking the HSD11B2 gene with hypertension in black patients with end-stage kidney disease and with salt sensitivity of blood pressure in healthy subjects.

HSD11B2 gene

blood pressure


Input: Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

deafness

deafness


Input: Consistent with the severe neurodegeneration in the CA1 sector, significant decreases in alpha1-, alpha3-, beta3-, and gamma2-subunit immunoreactivity (IR) were detected in sclerotic but not in nonsclerosic specimens.

neurodegeneration


Input: These results implicate PODXL as a candidate prostate cancer tumor aggressiveness gene mapping to chromosome 7q32-q33.

PODXL

prostate cancer

PODXL

prostate cancer


Input: Both participants experienced viremia of less than 4000 RNA copies/ml with preserved CD4 (+) T-cell counts off antiretroviral therapy for at least 3. 3 and 4. 6 years after diagnosis, respectively.

viremia


Input: Our study confirmed the expected cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis.

SOAT

delirium


Input: However, a subset of XX sex reversed male individuals exists without a translocation of SRY deoxyribonucleic acid (DNA) material to the X chromosome.

SRY

translocation


Input: Thus, the variations in the ARP trinucleotide repeat region represent normal polymorphisms rather than tumor-specific mutations.

ARP

tumor


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

major depression

major depression


Input: Expression of matriptase, as determined by Western blot analysis, was observed in primary human breast, gynecological, and colon carcinomas, but not in stromal-derived ovarian tumors and human sarcomas of various origins and histological grades.

matriptase

sarcomas


Input: For detection of either or both infections, the HC2 CT/GC test algorithm had 93. 8% sensitivity and 95. 9% specificity compared to those of culture.

infections


Input: Because the clinical toxicity of L-ASP is thought to stem from its glutaminase activity, these findings suggest the hypothesis that glutaminase-negative variants of L-ASP would provide larger therapeutic indices than wild-type L-ASP for ASNS-negative cancers.

ASNS

cancers


Input: The SAH alleles-1606A and 359N, but not-962ins/del, displayed a raising effect on body mass index (BMI; P = 0. 004 and P = 0. 030, respectively) in hypertensive as well as in control individuals.

SAH

body mass index


Input: Here we report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization.

XP-B

XP-B


Input: The serotonin 5-HT (7) receptor has been linked to various psychiatric disorders, including schizophrenia, anxiety and depression, and is antagonized by antipsychotics such as risperidone, clozapine and lurasidone.

5-HT (7

depression

5-HT (7

depression


Input: Our study confirmed the expected cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis.

SOAT

cognitive decline


Input: Tumor-necrosis factor (TNF)-α, likewise, induces ICAM-1, VCAM-1 and M-CSF, and amplifies the mesangial response to poly (I: C).

M-CSF

necrosis


Input: Indeed, vessel wall elements produce high amounts of PTX3 during inflammation and the levels of circulating PTX3 increase in several pathological conditions affecting the cardiovascular system.

inflammation


Input: The functional NEDD4L rs4149601 polymorphism influences the efficacy of β-blocker and/or diuretic-based antihypertensive treatment both in terms of blood pressure reduction and cardiovascular disease protection, whereas diltiazem-based antihypertensive treatment efficacy is not influenced by this NEDD4L polymorphism.

blood pressure


Input: Therefore, we employed a retroviral infection system to stably express human P450c17 in the primary cultures of fibroblast cells from the PCOS patients and controls and measured the resulting 17alpha-hydroxylase and 17, 20-lyase activity.

retroviral infection


Input: The purpose of this study was to assess the strength of the association between a family history of premature CHD and coronary artery calcification (CAC) in a multiethnic cohort of asymptomatic individuals.

CAC

coronary artery calcification


Input: We concluded that heterozygosity for DR3-DQ2/DR4-DQ8 and to some extent homozygosity for TNFa2/2 were risk factors for autoimmune diabetes irrespective of the clinical classification.

autoimmune diabetes


Input: Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancers, and therefore sequence analysis of both genes is routinely conducted in patients with early-onset breast cancer.

breast cancer

breast cancer


Input: We found no significant association of schizophrenia with this bi-nucleotide repeat polymorphism of the EN2 gene.

schizophrenia

schizophrenia


Input: Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms.

matrix metalloproteinase 9

thoracic aortic aneurysms

matrix metalloproteinase 9

thoracic aortic aneurysms


Input: We analyzed 62 genotyped variants within the selected genes (BDNF, NTRK2, SLC6A4, TPH2, P2RX7, DAOA, COMT, DISC1, and MAOA) against the presence of mood disorder, and in post-hoc analyses, specifically against bipolar disorder or major depressive disorder.

major depressive disorder

major depressive disorder


Input: Inasmuch as MUC7 is found exclusively in serous glands, the findings suggest that serous glands are not found in polyps in the anterior third of the nose.

polyps


Input: Mononuclear cells expressing IFN-gamma and IL-4 mRNA were aggregated in inflamed portal tracts in PBC livers, but were rarely present in extrahepatic biliary obstruction, alcoholic fibrosis, or normal liver sections.

IFN

extrahepatic biliary obstruction


Input: The aim of this study was to investigate relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and phenotype (conversion of odorous trimethylamine into non-odorous trimethylamine N-oxide) in a large Japanese cohort suffering from trimethylaminuria.

mono


Input: It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.

TNF-alpha

pertussis


Input: Inhibition of ROS production by N-acetyl-L-cysteine and catalase prevented necrosis and switched the cell death mode to apoptosis that depends on mitochondrial death pathway involving caspase-9 and caspase-3 activation, indicating a critical role of ROS in determination of GD-induced cell death mode.

catalase

necrosis

catalase

necrosis


Input: Animals submitted to ischemia showed a marked increase of alanine aminotransferase and aspartate aminotransferase after reperfusion, but with lower levels in CAPE group.

CAPE

ischemia


Input: Considering that both monosomy and trisomy for 11q22-qter are unviable, his offspring may inherit either the PAX6 mutation or the balanced translocation.

trisomy


Input: We recently reported that two of six HLA-DP supertypes (DP1-4, 6, 8) were associated with susceptibility (DP2) and resistance (DP1) to childhood acute lymphoblastic leukaemia (ALL).

acute lymphoblastic leukaemia


Input: Guided by results from transcriptional profiling, we identified the selective induction of fibroblast integrin beta1 (ITGB1) by hypoxia.

hypoxia


Input: Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers.

sporadic


Input: In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis.

FISH

developmental retardation


Input: Secretory phospholipases (sPLA2) are associated with inflammation, hyperlipidemia and atherosclerosis.

inflammation


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

glioblastoma multiforme

glioblastoma multiforme


Input: To explore the genetic interactions between loss of Men1 and activation of CDKs, we examined the impact of Cdk4 or Cdk2 disruption on tumorigenesis in Men1 (+/-) mice.

tumorigenesis


Input: The 6p21-p22 chromosomal region has been identified as a developmental dyslexia locus both in linkage and association studies, the latter generating evidence for the doublecortin domain containing 2 (DCDC2) as a candidate gene at this locus (and also for KIAA0319).

developmental dyslexia


Input: The Neph1 (-/-) animals that survived beyond the first week of life were sickly and small but without edema, and all died between 3 and 8 weeks of age.

edema


Input: BRCA2 is not expressed in the non-dividing cells, and expression is cell cycle stage-dependent and is elevated in the sporadic cancer cells.

sporadic


Input: This suggests an involvement of BRCA2 and putative BRCA3 in colon tumorigenesis in right-sided, replication error-negative, Dukes' stage C cancers.

tumorigenesis


Input: Recently, much interest have been focused on the role of INI-1, a partner gene of transfusion protein All-1 for leukemogenesis of acute leukemia cases.

INI

acute leukemia


Input: Hypoxia-regulated carbonic anhydrase-9 (CA9) relates to poor vascularization and resistance of squamous cell head and neck cancer to chemoradiotherapy.

vascularization


Input: Our data suggest that down-regulation of 4. 1N expression is a critical step for NSCLC development and that repression of JNK-c-Jun signaling through PP1 is one of the key anti-tumor mechanisms of 4. 1N.

4. 1N

tumor


Input: RNA-seq analysis revealed that K14 (+) cells were enriched for desmosome and hemidesmosome adhesion complex genes, and were depleted for MHC class II genes.

adhesion


Input: We genotyped single-nucleotide polymorphisms of the renalase gene in 507 ischemic stroke patients and 503 gender-matched controls from a northern Chinese Han population, and we classified these case samples in depth by complications with diabetes or hypertension and by ischemic stroke subtypes.

renalase

diabetes


Input: In the light of our results obtained with this polymorphism in schizophrenia, we speculate that the MMP-9 gene may be a common susceptibility gene to major psychoses with different allelic variants occurring in bipolar illness and schizophrenia.

bipolar illness

bipolar illness


Input: Six weeks after STZ injection, impairment of left ventricular (LV) function parameters measured by a Millar-tip catheter (peak LV systolic pressure; dP/dtmax; dP/dtmin) was accompanied by a significant increment of ICAM-1 and VCAM-1 (CAMs) expression, as well as of beta2-leukocyte-integrins + (CD18 +, CD11a +, CD11b +) and cytokine (TNF-alpha and IL-1beta)-expressing infiltrates in male Sprague-Dawley (SD-STZ) rats compared with normoglycemic littermates.

STZ

systolic pressure


Input: Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations.

schwannomatosis

schwannomatosis


Input: Increased expression of activated pSTAT3 and PIM-1 in the pulmonary vasculature of experimental congenital diaphragmatic hernia.

diaphragmatic hernia

diaphragmatic hernia


Input: ORF74 upregulated the expression of NF-kappaB-dependent inflammatory cytokines (RANTES, IL-6, IL-8, and granulocyte-macrophage colony-stimulating factor) and adhesion molecules (VCAM-1, ICAM-1, and E-selectin).

NF-kappaB

adhesion


Input: A novel arginine--& gt; Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.

anhidrotic ectodermal dysplasia

anhidrotic ectodermal dysplasia


Input: A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: Here we report PKHD1 sequencing results on 78 ARPKD/CHF patients from 68 families.

ARPKD

ARPKD


Input: Several studies have suggested abnormalities in the expression of myelin-related genes including tumor necrosis factor receptor 2 (TNFR2) involved in the neurodegeneration and remyelination.

neurodegeneration


Input: These preliminary findings demonstrate that FADS2 mRNA expression is significantly and selectively elevated in the prefrontal cortex of BD patients, and may contribute to dysregulated central PUFA biosynthesis and pro-inflammatory signaling implicated in the pathophysiology of BD.

BD

BD


Input: Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma.

E-cadherin

xeroderma pigmentosum


Input: These characteristics are associated with enhanced microglial activation and inflammation but not with altered regulation of cerebral blood flow, as assessed by MRI and laser Doppler flowmetry.

MRI

inflammation


Input: Variant rs11673407 in the fucosyltransferase 3 gene was strongly associated with waist/hip ratio (uncorrected p = 0. 00005) in joint analysis.

fucosyltransferase 3

waist/hip ratio


Input: We examined the association of the MGP Thr83Ala polymorphism with quantity and progression of coronary artery calcification (CAC), a noninvasive measure of subclinical coronary atherosclerosis.

CAC

coronary artery calcification


Input: BRCA1-associated hereditary breast carcinomas (HBCs) are diagnosed at a younger age and are known to show biological aggressiveness such as a high histological grade, frequent aneuploidy, compared to sporadic breast carcinomas.

aneuploidy


Input: Our results indicate that the Val/Val genetic polymorphism of GSTP1 may exert some protective effects in allergic inflammation.

inflammation


Input: There were significant differences in the frequency of p53-LOH and D9S171-LOH between the group with sporadic disease and those with HNSCC (P = 0. 0031 and 0. 0294, respectively).

sporadic


Input: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

keratin 13

white sponge naevus

keratin 13

white sponge naevus


Input: Overexpression of p53 gene product and/or 17p allelic loss were present in 47% of sporadic carcinomas and 33% of contiguous adenomas and in 71% of Crohn' s-associated carcinomas and 43% of dysplasias.

p53 gene

sporadic


Input: These data suggest that changes are apparent in markers for abnormal glial-neuronal communication (connexin 43 and aquaporin 4) in brains of subjects with autism.

aquaporin 4

autism

aquaporin 4

autism


Input: Peptides with predicted binding motifs for HLA-A * 6802 were synthesized using sequences based on chlamydial antigens, major outer membrane protein (MOMP), macrophage infectivity potentiator (MIP) and heat shock protein (hsp70).

shock


Input: At baseline, GFR, albuminuria, and blood pressure were similar in the two genotype groups, II versus DD: mean (SD), 86 (22) vs. 88 (24) ml.

GFR

albuminuria


Input: In vivo neovascularization in the Matrigel-plugs implanted into mouse flanks was significantly enhanced by prorenin, in which significant ERK activation was detected in ECs.

ERK

neovascularization


Input: Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.

human ether-a-go-go-related

long QT syndrome 2

human ether-a-go-go-related

long QT syndrome 2


Input: To investigate the association of 21 polymorphisms within 13 genes, APOE, APOB, APOC3, CETP, LPL, PON1, MTHFR, FGB, F5, GPIIIa, SELE, ACE and AGT, with inter-individual blood pressure (BP) variation.

APOB

blood pressure


Input: The aim of this study was to characterize the pattern of KIT, NRAS, and BRAF mutations in mucosal melanomas at specific sites and to assess activation of the KIT downstream RAF/MEK/extracellular signal-regulated kinase (ERK) and phosphoinositide 3-kinase (PI3K)/AKT pathways in mucosal melanoma specimens.

ERK

mucosal melanoma


Input: Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case.

TKFC

developmental delay

TKFC

developmental delay


Input: Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.

Golgi-associated protein

intellectual disability


Input: These molecular cytogenetic methods allowed us (1) to precisely localize the genomic breakpoints within-EWSR1 and EWSR2 and to identify the chromosome carrying the fusion gene; (2) to determine the nature of events generating the fusion genes; (3) to demonstrate that some variant translocations represent masked complex translocations; and (4) to show that the generation of an EWS/ERG fusion gene cannot be obtained through a simple balanced translocation.

translocation


Input: Conversely, the treatment with TCDD increases the association of mono-methylated-H3K9, DNA-methyltransferase-1 (DNMT1), and methyl-binding domain protein-2 with the BRCA-1 promoter and stimulates the accumulation of DNA strand breaks.

mono


Input: Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.

bone mineral density


Input: Variability in kidney stone incidence between black and white South Africans: AGT Pro11Leu polymorphism is not a factor.

AGT

kidney stone


Input: Together, our data provide strong evidence that the chemical mediator CCL2 is released from tumor cells and evokes phenotypic changes in sensory neurons, including increases in voltage-gated Ca2 + channels that likely underlie the mechanical hyperalgesia in the fibrosarcoma cancer model.

mechanical hyperalgesia

mechanical hyperalgesia


Input: ACEI and ARB treatment prevents ventricular remodeling by inhibiting expression of Smad 2 and Smad 3.

Smad 2

ventricular remodeling

Smad 2

ventricular remodeling


Input: The Foxp3 (+) CD8 (+) T cells that differentiated in vitro in the presence of IL-6 suppressed autoimmune colitis and arthritis in vivo.

arthritis


Input: Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.

disseminated superficial actinic porokeratosis

disseminated superficial actinic porokeratosis


Input: The results underlined the importance of considering the complete DNA sequencing of the SLC26A4 gene for differential molecular diagnosis of deafness, especially in those patients affected by congenital, progressive and fluctuating mixed hearing loss with bilateral EVA.

EVA

deafness


Input: Mutations in PINK1 have been identified in familial and sporadic cases of early onset Parkinson' s disease (PD).

sporadic


Input: PF-4var/CXCL4L1 predicts outcome in stable coronary artery disease patients with preserved left ventricular function.

left ventricular function


Input: The calpain inhibitor and the ROS scavenger synergistically inhibited Cd-induced necrosis.

calpain inhibitor

necrosis

calpain inhibitor

necrosis


Input: FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations.

variable expressivity


Input: Sixty-one leukaemia patients treated with haematopoietic stem cell transplantation (HSCT) from a genomic human leucocyte antigen (HLA)-A,-B and-DRbeta1 matched unrelated donor (MUD) were compared with 121 patients with an HLA-identical sibling donor.

MUD

leukaemia


Input: The translocation targets the NUP98 gene on 11p15, a member of the FG peptide repeat nucleoporin family.

NUP98 gene

translocation


Input: Recent genetic studies have shown that ANG is presented as a susceptibility gene for amyotrophic lateral sclerosis (ALS) and ALS-frontotemporal dementia (ALS-FTD).

ANG

frontotemporal dementia


Input: There is no detectable difference in the pattern of hypersensitivity (compared with the actively transcribed c-myc gene of lymphoblastoid cells) in Burkitt lymphoma cells where the translocation point occurs at a considerable distance upstream or downstream of c-myc.

myc gene

hypersensitivity


Input: By using siRNA (small interfering RNA) to downregulate EphB4 in MCF7 and MDA-MB-435 cancer cells, we found that EphB4 inhibits integrin-mediated cell substrate adhesion, spreading and migration, and reduces beta1-integrin protein levels.

adhesion


Input: Mel-18 negatively regulated the HIF-1α expression and its target gene VEGF transcription during both normoxia and hypoxia.

hypoxia


Input: The low mean SHBG concentration found among G972R carriers suggests that this variant may be a minor locus associated with development of hyperinsulinemic insulin resistance and ovarian androgen excess in girls with a history of PP.

SHBG

insulin resistance


Input: To study fibrosis-associated liver carcinogenesis, we used a mouse model designed to emulate the development of HCC in cirrhotic liver.

HCC

fibrosis


Input: Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

NRAS

congenital melanocytic nevi

NRAS

congenital melanocytic nevi


Input: Beta-blockers are widely used and effective for treating hypertension, acute myocardial infarction (MI) and heart failure, but they present side-effects mainly due to antagonism of beta2-adrenergic receptor (AR).

heart failure


Input: Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. EARS Group.

IV gene

body mass index


Input: our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.

bipolar disorder

bipolar disorder


Input: In summary, these findings are consistent with previous literature suggesting that individual susceptibility to bladder cancer may be modulated by NAT2 polymorphisms, particularly in interaction with relevant environmental exposures such as smoking.

smoking


Input: We studied loss of heterozygosity (LOH) on human chromosome 13q in prostate cancer specimens to determine the location of a putative tumor suppressor gene (TSG) and to correlate these losses with the clinicopathological stage of the disease.

TSG

prostate cancer


Input: Finally, the therapeutic efficacy of a single intratumoral injection of AdCMVCD followed by systemic 5-FC was assessed in three intracranial C. B17 severe combined immunodeficient mouse models of human glioma.

glioma


Input: The reduced myocardial iodine-123 metaiodobenzylguanidine uptake observed in patients with single heterozygous PINK1 mutations is similar to that seen in patients with sporadic PD.

sporadic


Input: 5'-rapid amplification of complementary DNA ends polymerase chain reaction identified an in-frame fusion of dynactin 1 exon 16 on chromosome 2 to anaplastic lymphoma kinase exon 20.

dynactin 1

lymphoma


Input: We systematically reviewed and meta-analyzed relations between breast cancer imaging features and human epidermal growth factor receptor type 2 (HER2) overexpression as a marker of breast cancer aggressiveness.

aggressiveness


Input: In a longitudinal population cohort we have established a role for polymorphism of IL13 in determining susceptibility to both atopy and asthma.

atopy


Input: In contrast, OVA challenge in CC10-IL-11 animals elicited impressively lower levels of tissue and bronchoalveolar lavage inflammation, eosinophilia, and Th2 cell accumulation, and significantly lower levels of VCAM-1 and IL-4, IL-5, and IL-13 mRNA and protein.

inflammation


Input: Six genetic polymorphisms in ARNTL, PER2 and CRY2 were genotyped in 566 schizophrenia spectrum disorder patients and 926 controls.

ARNTL

schizophrenia


Input: Expression of the tumor suppressor ARHI inhibits the growth of pancreatic cancer cells by inducing G1 cell cycle arrest.

ARHI

pancreatic cancer


Input: We investigated in this study the potential relationship between the host (human) genetic polymorphisms (glucose-6-phosphate dehydrogenase [G6PD], mannose binding lectin [MBL], tumor necrosis factor alpha [TNFalpha] (-308) and (-238), and nitric oxide synthase 2 [NOS2] (-954)) and the prevalence and profile of asymptomatic P. falciparum infection in 158 Gabonese schoolchildren.

glucose-6-phosphate dehydrogenase

asymptomatic


Input: This immunotoxin also caused complete regression of tumors in nude mice that received xenografts of mesothelin-positive human carcinomas.

mesothelin

regression


Input: Recently, somatic post-zygotic mutations in EPAS1 (HIF2A) have been found in patients with multiple PGLs and congenital erythrocytosis.

PGLs

congenital erythrocytosis


Input: mRNA editing was assessed in prefrontal cortex of 24 MDD (Suic), 21 MDD (NoSuic), and 56 NC using next generation sequencing. mRNA expression of 5-HT (2C) R and editing enzymes (ADAR1-2) was assessed by real-time PCR.

5-HT (2C

MDD (Suic

5-HT (2C

MDD (Suic


Input: Long non-coding RNA-ATB promotes EMT during silica-induced pulmonary fibrosis by competitively binding miR-200c.

pulmonary fibrosis

pulmonary fibrosis


Input: Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.

IGF2 gene

body mass index


Input: To investigate the association of the common protein Z (PZ) intron F G79A gene polymorphism with recurrent early pregnancy loss (RPL) and its gene-gene interaction with known thrombophilic risk factors for RPL.

protein Z

recurrent early pregnancy loss


Input: The humoral pattern recognition molecule PTX3 is a key component of innate immunity against urinary tract infection.

urinary tract infection


Input: Furthermore, GEP levels were significantly elevated in patients with either osteoarthritis or rheumatoid arthritis.

GEP

osteoarthritis


Input: Clinical characteristics of CGN (nephritis, debute, its clinical and morphological variants, analysis of the clinical course as regards arterial hypertension severity, rate of persistence of proteinuria (PU) of the nephrotic level for 6 months and longer, frequency of AH combination with persistent PU was made retrospectively in the groups of patients by genotypes of the genes ACE, CYP11B2 and NOS3.

nephritis


Input: Autonomic activity, including blood pressure and circulating levels of catecholamines, increased after administration of the stressor, and correlated with increases of Mac-1.

blood pressure


Input: The inactivating mutations in the DUOXA2 (p. Y246X) and DUOX2 (p. R885Q) genes were identified in a set of dizygotic twins with CH.

dizygotic twins


Input: Importantly, systemic in vivo administration of RAP reduced the growth and metastasis of pancreatic tumors and also inhibited glioma tumor growth.

RAP

glioma


Input: To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome.

weight reduction


Input: The translocation and/or overexpression of c-MAF have been observed in human MM.

c-MAF

translocation


Input: Weekly cisplatin, epirubicin, and paclitaxel with granulocyte colony-stimulating factor support vs triweekly epirubicin and paclitaxel in locally advanced breast cancer: final analysis of a sicog phase III study.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


Input: To investigate the relationship between mtDNA variation and endometrial cancer, we collected blood samples from subjects with Han native background in Yunnan province in China, 49 of them with pathologically conformed endometrial cancer and 31 as controls with no cancer disease and sequenced two hypervariable segments of control region, part of 16sRNA gene, tRNA (leu) (tRNA is transfer RNA) gene and ND1 gene of mtDNA and identified some diagnostic polymorphisms by restriction fragment length polymorphism of coding region of mtDNA.

endometrial cancer


Input: Here, we molecularly characterized the CD40L-Mac-1 interaction and tested whether its selective inhibition by a small peptide modulates inflammation and atherogenesis in vivo.

atherogenesis


Input: To study possible mutational changes associated with smoking as a risk factor for lung cancer, we analyzed HPRT mutations in T-cells of newly diagnosed, nonsmoking and smoking lung cancer patients before treatment.

HPRT

smoking


Input: In the striatum of the knock-in mice, DARPP-32 phosphorylation at Thr 34, which is important for the regulation of depression-related behaviour, is increased.

depression

depression


Input: PDE4 has been reported to be involved in various central nervous system (CNS) functions including depression, memory, and schizophrenia, although the specific subtype mediating these effects remains unclear.

schizophrenia

schizophrenia


Input: Three pathogenic sequence alterations in VMD2 were identified in five families with nanophthalmos associated with ADVIRC.

ADVIRC

ADVIRC