Input: Bacterial binding leads to CFTR-dependent bacterial internalization, initiation of NF-kappaB nuclear translocation, cellular desquamation, and eventual apoptosis of the infected cells, all of which are critical for innate immune resistance to infection with this pathogen.

CFTR

desquamation


Input: Expression of these viral genes resulted in the development of malignant tumors in restricted tissues; in the case of the HBx transgenic mice, hepatocellular carcinomas and in the E1a/E1b transgenic mice, gastric carcinomas.

carcinomas


Input: Thus, SPRY4 is a tumor suppressor at 5q whose disruption contributes to a lethal AML subtype that appears to acquire RAS pathway activation through a loss of negative regulators.

AML

AML


Input: Genetic variation in the beta2 (ADRB2) and beta3 (ADRB3) adrenergic receptor genes are associated with obesity and insulin resistance.

insulin resistance


Input: Ets-1 up-regulation is involved in the development of retinal neovascularization, and inhibition of Ets-1 may be beneficial in the treatment of ischemic ocular diseases.

retinal neovascularization


Input: In this study, we have identified an autosomal dominant GPR54 mutation--the substitution of proline for arginine at codon 386 (Arg386Pro)--in an adopted girl with idiopathic central precocious puberty (whose biologic family was not available for genetic studies).

idiopathic central precocious puberty

idiopathic central precocious puberty


Input: Glucose metabolism, insulin sensitivity, and gene expression of key adipocyte genes, including adiponectin, interleukin 6 (Il6), 11 beta-hydroxysteroid dehydrogenase (11beta Hsd), peroxisome proliferator-activated receptor gamma (Ppar gamma), forkhead box O1 (Foxo1), glucose transporter 4 (Glut4), CCAAT/enhancer binding protein (C/ebp alpha), and fatty acid synthase (Fasn) were characterized in adipocytes from epididymal and subcutaneous fat depots of 28-week-old male WOKW rats and Dark Agouti (DA) controls.

insulin sensitivity


Input: The inhibitory role of miR-214 in cervical cancer cells through directly targeting mitochondrial transcription factor A (TFAM).

TFAM

cervical cancer


Input: MUC5B promoter polymorphism and interstitial lung abnormalities.

abnormalities


Input: In contrast, animals infected with viruses with STAT2 or mda5 defect or both STAT2 and mda5 defects developed a mild self-limiting disease similar to that associated with the V-knockout virus.

mild


Input: Odds ratios for carrying the mutation were 7. 6 and 3 in FAD and sporadic AD cases, respectively.

FAD

sporadic


Input: TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Camurati-Engelmann disease

Camurati-Engelmann disease


Input: These results indicate that TG mice overexpressing H-PGDS abundantly produced PGD (2) in adipose tissues, resulting in pronounced adipogenesis and increased insulin sensitivity.

H-PGDS

insulin sensitivity


Input: Sixty-two CHEK2 1100delC MBC patients were selected from three cohorts genotyped for CHEK2 1100delC (one non-BRCA1/2 cohort and two sporadic cohorts).

sporadic


Input: Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.

endometriosis

endometriosis


Input: To investigate the in vivo effects of simvastatin in RANKL-treated mice, we examined the bone mineral density (BMD) of a mouse model of bone loss, and found that simvastatin significantly reduced bone loss by suppressing osteoclast numbers in vivo, even in the presence of high concentrations of RANKL.

RANKL

bone mineral density


Input: We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.

FLNA

FLNA


Input: These results identify a miRNA that targets both FGF2 and VEGFA in cancers, demonstrate the anti-angiogenesis role of miR-503 in tumorigenesis, and provide a novel mechanism for hypoxia-induced FGF2 and VEGFA through HIF1α-mediated inhibition of miR-503.

hypoxia


Input: Thus, MeCP2 is essential for myofibroblast differentiation and pulmonary fibrosis.

pulmonary fibrosis

pulmonary fibrosis


Input: This study identifies RhoE as a direct target for HIF-1 in gastric cancer cells.

RhoE

gastric cancer


Input: Among the downregulated miRNAs, we observed that miR-654-3p levels decrease with long-term PTC progression in Tg-Braf mice and inversely correlate with EMT.

PTC

PTC


Input: AKT-GSK3beta signaling is a target of lithium and as such has been implicated in the pathogenesis of mood disorders.

AKT

mood disorders

AKT

mood disorders


Input: Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

ROMK

hyperkalemia


Input: The convalescent NAT correlated well with the initial viral load and was independently associated with severity of the viral illness, including pneumonia.

NAT

pneumonia


Input: Quantitative real-time polymerase chain reaction experiments revealed that reduced expression of Glo1 mRNA was observed in major depressive and bipolar disorder patients in a current depressive state, as compared with healthy control subjects.

depressive state

depressive state


Input: Cyclin E2 induction of genomic instability by a mechanism distinct from cyclin E1 indicates that these two proteins have unique functions in a cancer setting.

cyclin E1

genomic instability


Input: Vector capsid dose-dependent inflammation of transduced liver has limited the ability of adeno-associated virus (AAV) factor IX (FIX) gene therapy vectors to reliably convert severe to mild hemophilia B in human clinical trials.

AAV

inflammation


Input: To study the relationship between perinatal prognosis in cases of preterm labor (PTL) and polymicrobial infection in amniotic fluid (AF) and intra-amniotic (IA) inflammation using a highly sensitive and reliable PCR-based method.

PTL

polymicrobial infection


Input: These results suggest that the CD4 (-)-LAK can kill the CD34 + leukemia cells, discriminating from the normal hematopoietic progenitors.

leukemia


Input: To explore the relationship between the polymorphism of HLA-DRB1 *, DQB * genes and the susceptibility of pneumoconiosis.

pneumoconiosis


Input: The incidence of anemia was highest in patients with Hb < 14. 0 g/dl and CLcr < 90 ml/min (76%), followed by Hb < 14. 0 g/dl and ITPA CC (57%).

CLcr

anemia


Input: These are the first mutations to be recognized in the uroporphyrinogen III synthase gene from congenital erythropoietic porphyria patients.

uroporphyrinogen III synthase

congenital erythropoietic porphyria

uroporphyrinogen III synthase

congenital erythropoietic porphyria


Input: The Bcl-2/Bax ratio was higher in pleuritis than in MMs, compared to normal pleurae (441%, p = ns and 22%, p = ns, respectively); the difference between Bcl-2/Bax ratio in inflammatory and neoplastic pleural samples was significant (p = 0. 00375).

pleuritis


Input: A 3'-UTR BPI polymorphism was simultaneously associated with plasma BPI concentration, waist-to-hip ratio, fasting and postload insulin concentration, fasting plasma triglycerides, and insulin sensitivity.

UTR

waist-to-hip ratio


Input: Histopathological analysis revealed mild focal lung inflammation more frequently in the EGTA, C10, and C12 groups than in vehicle controls, with greater intensity in the C12 group relative to the other groups.

mild


Input: By polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP), the Cyclin D1 (A870G) genotyping was performed among 178 patients with esophageal or esophageal-gastric junction carcinoma (120 with esophageal squamous cell cancer and 58 with cardiac adenoma cancer) and 122 health controls.

Cyclin D1

esophageal


Input: Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).


Input: Memory cells, and IL-2 receptors also were elevated in the GN group.

GN

GN


Input: However, whereas the majority of sporadic breast tumors that stained negative for p53 accumulation had wild-type TP53, the majority of BRCA1-associated breast tumors that stained negative for p53 accumulation had protein-truncating TP53 mutations (nonsense, frameshift, and splice mutations).

sporadic


Input: Our recent studies, based on the reported interrelationship between c-Myc and Sirt1 (mammalian orthologue of yeast sir2 [silent information regulator 2]) expression and their role in mitochondrial biogenesis and function, demonstrated a significant downregulation of Sirt1 protein expression and an upregulation of c-Myc following trauma-hemorrhage (T-H).

c-Myc

hemorrhage


Input: The purpose of this study was to evaluate the energy metabolism and mitochondrial function in skeletal muscle from patients with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) or chronic progressive external ophthalmoplegia (CPEO) using phosphorus magnetic resonance spectroscopy ((31) P-MRS), to determine whether abnormally increasing cytochrome c oxidase (COX), as detected in muscle biopsy, could be a cause for MELAS.

COX

chronic progressive external ophthalmoplegia


Input: Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation.

CFTR

CF

CFTR

CF


Input: We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.

ALL

ALL


Input: In conclusion, the expression of miR-143 and miR-215 in serum were significantly up-regulated in patients with chronic hepatitis and HCC.

HCC

chronic hepatitis


Input: ErbB kinases and NDF signaling in human prostate cancer cells.

NDF

prostate cancer


Input: Moreover, EFEMP1 decreased secretion of MMPs and inhibited tumor cell proliferation, metastasis and invasion in vitro and suppressed tumorigenesis in nude mice.

tumorigenesis


Input: In addition, an approximately 2-fold elevation of SK1 mRNA expression was observed in lung cancer tissue versus normal tissue, as well as in several other solid tumors.

lung cancer


Input: It was our aim to characterize the LEP-2548G > A leptin polymorphism and lipid profile in obese and normal-weight individuals.

LEP

weight


Input: Knockdown of FGL2 expression in HCCLM6 cells (hFGL2 (low) HCCLM6) resulted in delayed xenografts tumour growth within an observation period of 42 days and decreased vascularization, which was accompanied by decreased phosphorylation of extracellular signal-regulated kinase (ERK) and c-Jun N-terminal kinase (JNK).

ERK

vascularization


Input: We now report a TBDN patient who is compound heterozygous for a recessive and a dominant glycine substitution mutation in COL7A1.

TBDN

TBDN


Input: Stratified analysis indicated that an increased risk of progression was observed in subjects carrying the XRCC1-399Arg/Gln + Gln/Gln genotype (OR = 1. 60; 95% CI = 1. 09-2. 36) or OGG1-326Ser/Cys + Cys/Cys genotype (OR = 1. 95; 95% CI = 1. 03-3. 71) with intestinal metaplasia or dysplasia at baseline or carrying the XRCC1-399Arg/Gln + Gln/Gln genotype and smoking (OR = 1. 58; 95% CI = 1. 02-2. 45).

smoking


Input: The aim of this study was to analyze the impact of genetic alterations in the NF2 gene on epidemiologic, clinical, and radiologic features of patients with sporadic VS.

NF2 gene

sporadic


Input: Transfection of the antisense C2GnT-1 cDNA resulted in a significant reduction of either selectin ligand expression or selectin-dependent cell adhesion in BCP-leukemia cell line KM3 cells.

leukemia


Input: This study was conducted to investigate the HO-1 expression of lungs in lung injury by chrysotile asbestos in vivo and in vitro.

lung injury

lung injury


Input: There was abundant PHF-tau present, which on Western blots, was indistinguishable from the PHF-tau typical of cases of sporadic Alzheimer' s disease and that of another FAD mutation (valine to isoleucine), previously (Neurosci.

FAD

sporadic


Input: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: In this study the GSTmu phenotype and ADH genotype at the ADH3 locus were investigated in a group of 39 alcoholic men with upper respiratory/digestive tract cancer: 21 with oropharyngeal cancer and 18 with laryngeal cancer.

ADH

oropharyngeal cancer


Input: These data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS.

CASR gene

insulin resistance


Input: Our results show that ten eleven translocation (TET) methylcytosine dioxygenase, predominantly TET1 in HCC cells, is a direct target of miR-494.

HCC

translocation


Input: Epidemiological studies have revealed that low plasma SHBG levels are an early indicator of insulin resistance and predict the development of type 2 diabetes mellitus (T2DM) in both men and women.

SHBG

insulin resistance


Input: Compared with sporadic EOC patients, both BRCA1-and BRCA2-associated patients have improved outcomes after primary therapy, including chemotherapy.

sporadic


Input: Finally, because both the opiate and 5-HT2A antagonists reduce the ingestion of saccharin and chocolate solutions differentially, it is apparent that preferences for alternative palatable fluids should be examined when candidate drugs are screened for suppressing alcohol drinking and ultimately the treatment of alcohol abuse.

alcohol abuse

alcohol abuse


Input: Attenuation of HIF-1 and NF-κB transcriptional activity by siRNAs or pharmacological inhibitors, abrogated hypoxia-induced upregulation of CX3CR1, and also prevented the migration and invasion of DU145 cells under a hypoxic environment.

hypoxic


Input: Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene.

autism spectrum disorder

autism spectrum disorder


Input: Serum resistin level was correlated with insulin resistance, lower HDL cholesterol, and high-sensitivity C-reactive protein in the Japanese general population.

C-reactive protein

insulin resistance


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%.

liver cancer

liver cancer


Input: Oxidized protein level, translocation of Bcl-2, Bax and cytochrome c between cytosol and mitochondria, and expression of peroxisome proliferator-activated receptors γ (PPARγ) and UCP2 were examined in the hippocampal CA3 subfield following KA-induced status epilepticus.

PPARγ

translocation


Input: This study broadens the mutational spectrum of SCA35 and stresses the importance of TG6 in cerebellar functions.


Input: Collectively, these results suggest that E (2) treatment down-regulates cell proliferation by modulating the expression of cyclin A, cyclin D1 and cyclin E. E (2) treatment simultaneously impaired cell migration by inhibiting the expression of uPA, tPA, MMP-2, and MMP-9 through E (2)/ERs-p38α MAPK signaling pathway in human LoVo colon cancer cells.

cyclin E

colon cancer


Input: We demonstrated previously that c-Jun, JunB and c-Fos RNA were dysregulated in metastatic melanoma cells compared with normal human melanocytes.

c-Jun

metastatic melanoma


Input: We report molecular cytogenetic characterization of mosaic supernumerary r (1) (p13. 2q23. 3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses.

psychomotor retardation


Input: Ad-BRCA1 treatment in SHR rats was associated with a sustained increase in aortic BRCA1 expression, lower aortic ROS production, reduced γH2A. X levels, greater RAD51 foci, and decreases in blood pressure.

blood pressure


Input: PRSS56 is a good candidate for the causal gene for nanophthalmos in our families.

nanophthalmos

nanophthalmos


Input: A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Mowat-Wilson syndrome

Mowat-Wilson syndrome


Input: ] 3 +, CD14 +, CD19 +, CD68 +) were isolated by magnetic bead system and the expression of proinflammatory (CD40, tumor necrosis factor-alpha [TNFalpha]), proapoptotic (caspase-3 [CPP32], poly (ADP-ribose) polymerase [PARP]) and adhesion relevant (CD38) genes was measured by quantitative polymerase chain reaction (PCR).

adhesion


Input: Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.

leiomyoma

leiomyoma


Input: Among patients with an acute coronary syndrome those being HPA-3b homozygous have a tendency to develop ST segment elevation myocardial infarction instead of non-ST segment elevation infarction or unstable angina.

HPA

infarction


Input: We tested 538 patients for p53 codon 72 variants, including 167 unrelated patients with pathogenic germline mutations in MSH2 or MLH1 and colorectal carcinoma as first tumour, 126 patients with sporadic microsatellite stable colorectal cancers, and 245 healthy controls.

sporadic


Input: Conversely, DNA damage-induced mono-ubiquitination of both PCNA and FANCD2 is attenuated in Rad18-deficient cells, demonstrating that Rad18 contributes to activation of the FA pathway.

mono


Input: Addition of either superoxide dismutase (SOD) or catalase reduced arsenic induced cell transformation and tumor formation.

catalase

tumor

catalase

tumor


Input: The MSCs from the human bone marrow were transfected with recombinant adenovirus encoding endostatin and EGFP (MSC-EN cells).

MSC

adenovirus


Input: Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

coproporphyrinogen oxidase

hereditary coproporphyria

coproporphyrinogen oxidase

hereditary coproporphyria


Input: The present study did not find any significant association of NQO1 609C > T and NQO2-3423G > A polymorphisms with susceptibility to EC or its clinical phenotypes (histopathology, tumor location or lymph node metastasis) or interactions with lifestyle risk factors (tobacco usage, smoking, alcohol habit and occupational exposures).

smoking


Input: We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth.

OD

OD


Input: By applying whole-exome sequencing and filtering for X-chromosomal variants, we identified a de novo nonsense mutation in NDUFB11 (Xp11. 23) in one female individual and a heterozygous 1-bp deletion in a second individual, her asymptomatic mother, and an affected aborted fetus of the subject' s mother.

asymptomatic


Input: Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison' s disease.

sporadic


Input: Reduction of insulinotropic properties of GLP-1 and GIP after glucocorticoid-induced insulin resistance.

GIP

insulin resistance


Input: We conclude that IRP1 is translocated to the ER by multiple signals in HepG2 cells, including hypoxia, thereby facilitating its role in regulation of hepatic gene expression.

hypoxia


Input: In order to determine the role of proteins involved in G (1) control in tumorigenesis, we focused on Cdk2 and Cdk4, two cyclin-dependent kinases that in association with cyclin E and cyclin D promote the G (1)/S phase transition.

tumorigenesis


Input: Childhood SES as indexed by Father' s Education Level was associated with larger systolic blood pressure (SBP) (p <. 05) and diastolic blood pressure (DBP) (p =. 01) responses to mental stress.

DBP

systolic blood pressure


Input: We have used our unique murine model of PBC in dominant-negative TGF-β receptor type II transgenic mice to delineate critical early immunopathological pathways, and previously showed that dnTGFβRII CD8 T cells transfer biliary disease.

biliary disease


Input: The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria.

NCCT

mild


Input: Here, we found that intrathecal injection of BAM8-22 (a 15-amino acid peptide MrgC agonist) and JHU58 (a novel dipeptide MrgC agonist) inhibited both mechanical and heat hypersensitivity in rats after an L5 spinal nerve ligation (SNL).

SNL

hypersensitivity


Input: Herein we report the clinical and the most relevant molecular genetic findings obtained in a LHON family with a new mitochondrial DNA mutations at np 14498 in the ND 6 gene.

ND 6

LHON

ND 6

LHON


Input: Following caspase 8 activation, Bid, a proapoptotic Bcl-2 member, was cleaved and this cleavage then triggered Bax conformational changes and Bax translocation from cytosol to mitochondrial membrane.

caspase 8

translocation


Input: We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM).

lamin A/C

DCM

lamin A/C

DCM


Input: In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment.

brain

brain


Input: The ploidy between BRCA2-mutated (n = 71) and matched sporadic (n = 165) cancers was compared.

sporadic


Input: Since Th1 and Th2 cytokines differentially regulate the ratio between IL-1beta and IL-1Ra, these findings suggest that dysregulation of IL-1beta/IL-1Ra, probably due to interaction between epithelium and immuno-competent cells in the airway, is important in asthma inflammation.

inflammation


Input: In addition, induction of insulin resistance by the intake of high fructose is more rapid in MOR knockout mice than in wild-type mice.

MOR

insulin resistance


Input: High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: To report a novel mutation in the TGFBI gene, c. 1761_1763del (p. His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD).

TGFBI

LCD

TGFBI

LCD


Input: The presence of variant alleles in TP53BP1 rs560191, CASP7 rs7907519 or BCL2 rs12454712 enhanced the risk of smoking by 2. 08-2. 58 times [interaction odds ratio (ORi) = 2. 08-2. 58, adjusted P-value (Padj) = 0. 02-0. 04].

smoking


Input: This is usually a biochemical characteristic of EDS IV, caused by mutations of COL3A1.

EDS IV

EDS IV


Input: Here we show that silencing of PTH receptor 1 (PPR) in T cells blocks the bone loss and the osteoclastic expansion induced by cPTH, thus demonstrating that PPR signaling in T cells is central for PTH-induced reduction of bone mass.

PTH receptor

bone mass


Input: These results show that BPI ameliorates hypercoagulability after hemorrhagic shock and suggest that endotoxin plays a role in the pathogenesis of thrombogenic responses after hemorrhagic shock.

BPI

hypercoagulability


Input: As predicted for dysregulation of c-maf by translocation, there is selective expression of one c-maf allele in 2 informative lines with translocations.

c-maf

translocation


Input: Moreover, in young patients with breast carcinoma, the rates of Ki67 with the overexpression of HER2/neu and p53 mutations are higher, and it shows a more aggressive behavior than other tumors assessed in this age group.

aggressive behavior


Input: Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease.

TPM3 gene

myopathy, congenital


Input: The AP-1 repressor protein, JDP2, potentiates hepatocellular carcinoma in mice.

hepatocellular carcinoma

hepatocellular carcinoma


Input: They furthermore suggest that the stellate cell phenotype observed in U343 MG-A astrocytoma cells after cyclin-dependent kinase inhibitor (CKI) induction and RA treatment is accompanied by an inhibition and inactivation of rhoA in this cell system.

CKI

astrocytoma


Input: As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.

major depression

major depression


Input: Among the 11 prognostic risk genes, v-maf avian musculoaponeurotic fibrosarcoma oncogene homologue F (MAFF), SRY (sex-determining region Y)-box 4 (SOX4), and retinoic acid receptor, alpha (RARA) encoded transcription factors.

RARA

fibrosarcoma


Input: Early progression (first 36 months) occurred in 2% of patients with diploid ABH positive tumors and in 31% of those with aneuploid ABH negative tumors (p less than 0. 008).

ABH

aneuploid


Input: Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.

sarcoma

sarcoma


Input: The protective mechanism of ischemic postconditioning was investigated by comparing its effects on apoptosis, production of the neurotoxic cytokine IL-1β and the transcription and expression of TLR2, TLR4 and IRAK4 in the 2 and 4. 5 hour ischemia groups.

ischemia


Input: The prevalence of PFO was significantly higher in migraine patients with aura and the homozygous variant of the MTHFR gene.

MTHFR gene

aura


Input: This issue was examined in a model of ischemia-reperfusion stress when cultures of endothelial cells (EC) from human umbilical vein were infected with virus-based vectors expressing Hsp70 or Hsp27, or Hsp56, or green fluorescent protein (GFP) and exposed to 20 hours of hypoxia followed by reoxygenation.

hypoxia


Input: The constitutive androstane receptor (CAR) may participate in insulin resistance in pregnancy, and sex steroids, estradiol (E (2)) and progesterone, may also be involved.

constitutive androstane receptor

insulin resistance


Input: Thus, allogeneic Th1 CD4 (+) cells generated during GVHD traffic to hematopoietic sites and induce bone marrow failure via IFNγ-mediated toxicity.

bone marrow failure


Input: Because in the muscle of patients with sporadic inclusion body myositis (sIBM) clonally expanded CD8 + T cells invade major histocompatibility complex (MHC) class I-expressing muscle fibres, we investigated ICOS. ICOS-L interactions and correlated their expression with perforin, a marker for cytotoxic effector function by autoinvasive CD8 + T cells.

sporadic inclusion body myositis


Input: WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism.

progressive pseudorheumatoid dysplasia

progressive pseudorheumatoid dysplasia


Input: It also suggests that the genetic effect of ADH2 * 1 plays an important role in alcohol drinking behavior and in the occurrence of liver injury, but the effect is so mild that it does not influence the glucose-insulin axis or prevalence of diabetes.

mild


Input: Using gene-specific primers in semi-quantitative reverse-transcriptase polymerase-chain-reaction experiments we found elevated expression of eotaxin-and RANTES-mRNA but no MCP-3-mRNA in non-atopic and atopic nasal polyps when compared to normal nasal mucosa.

RANTES

atopic


Input: Pure autosomal dominant spastic paraplegia (SPG) is a genetically heterogeneous neurodegenerative disorder of the central nervous system clinically characterized by progressive spasticity mainly affecting the lower limbs.

SPG

progressive spasticity


Input: For EDNRA, we found a weak association of the exon 8 variant with HT (p = 0. 019) and association of the 5'-UTR variant with elevation in systolic and diastolic blood pressure (BP) (p = 0. 038 and 0. 0031, respectively).

EDNRA

diastolic blood pressure


Input: Our results suggest that genetic variation in TNF may contribute to childhood asthma and that associations may be modified by parental smoking.

TNF

smoking


Input: The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.

Kjellin syndrome

Kjellin syndrome


Input: HLA-A * 6801-02 and DRB1 * 1601-1606 frequencies appeared elevated in a subset of patients with serositis and DRB1 * 0401-1122 frequency was elevated in those displaying neurologic disorder.

HLA-A

serositis


Input: Limited epidemiological evidence suggests that genetic polymorphisms of drug-metabolizing enzymes such as cytochrome P450 (CYP), glutathione S-transferase (GST) and N-acetyltransferase (NAT) may be involved in tobacco-related hepatocarcinogenesis.

NAT

hepatocarcinogenesis


Input: Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

alveolar capillary dysplasia

alveolar capillary dysplasia


Input: The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE genotypes predisposing to iron overload (p. Cys282Tyr + and p. His63Asp +/+; p = 0. 01), and the p. 736Val variant was negatively associated with hepatic iron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait (OR 0. 59, 0. 39-0. 88).

beta-thalassemia


Input: Moreover, overexpression of calpastatin or knockdown of AIF expression conferred neuroprotection against cell death in neuronal cultures and in hippocampal CA1 neurons after transient global ischemia.

ischemia


Input: Because progerin also accumulates during physiological ageing, our results provide an in vitro iPSC-based model to study the pathogenesis of human premature and physiological vascular ageing.

progerin

ageing


Input: Although the mouse model does not display the full pathology of PAH, the inhibition of miR-145 by modified ASOs is promising for prevention and reversion of vascular remodeling.

vascular remodeling


Input: Killing effect of Ad5/F35-APE1 siRNA recombinant adenovirus in combination with hematoporphrphyrin derivative-mediated photodynamic therapy on human nonsmall cell lung cancer.

adenovirus


Input: We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent.

PEB

PEB


Input: Circulating levels of interleukin-6 (IL-6), soluble IL-6 receptor (sIL-6R), tumor necrosis factor-alpha-receptor (TNF-RII), and soluble intercellular adhesion molecule (sICAM) did not differ between those with and without depression.

tumor necrosis factor-alpha-receptor

depression

tumor necrosis factor-alpha-receptor

depression


Input: We investigated the effect of short hair pin ribonucleic acid (RNA) specific for human telomerase reverse transcriptase messenger RNA on the expression of the proteins c-myc (the transcription factor c-myc is a shortlived nuclear phospho-protein involved in cell proliferation and differentiation, belongs to the myc family), proliferating cell nuclear antigen and Caspase-3 in nasopharyngeal carcinoma cells.

telomerase reverse transcriptase

pin


Input: Thus, we investigated the time course of mRNA expression of cytokines known as causative factors in a model of RIF in rats before and on day 10 after unilateral ureteral obstruction (UUO), when first signs of fibrosis were visible, as well as during progressive RIF.

RIF

fibrosis


Input: Hence EWS should not be used as an internal control for the RNA quality in a RT-PCR based test for the presence of the translocation.

EWS

translocation


Input: We investigated 18 adrenals with APA and 15 with non-functioning adrenal incidentaloma (NFAI) for expression of Disabled-2 and GIRK4, two markers of zona glomerulosa (ZG), and 77 adrenals with APA with known mutational status for GIRK4 expression.

APA

adrenal incidentaloma


Input: High-dose paclitaxel with granulocyte colony-stimulating factor in patients with advanced breast cancer refractory to anthracycline therapy: a European Cancer Center trial.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


Input: Overexpression via adenovirus-mediated gene transfer and siRNA-mediated gene silencing established that hepatocyte nuclear factor 4 (HNF-4) is an important regulator of apoM gene transcription in hepatic cells.

hepatocyte nuclear factor 4

adenovirus


Input: Because smoking and obesity are known and suspected pancreas cancer risk factors, and have been associated with DNA damage and oxidative stress in target tissues, we estimated odds ratios (ORs), interaction contrast ratios (ICRs), and 95% confidence intervals for the combined effects of XRCC1 genotype and smoking or body mass index (in kg/m (2)).

smoking


Input: ADAM9, 12 and 15 are implicated in the malignant growth of GC cells, perhaps via the interaction with adhesion molecules, or the proteolytic' shedding' of signaling molecules and the consequent transactivation of their receptors, such as the epithelial growth factor receptor and its ligands.

adhesion


Input: STAT3 and STAT1 mediate IL-11-dependent and inflammation-associated gastric tumorigenesis in gp130 receptor mutant mice.

inflammation


Input: Moreover, two inhibitors of anoctamin ion channels, tannic acid and a more selective inhibitor of anoctamin 1, significantly inhibited PLC cyst growth and cyst enlargement in an embryonic kidney cyst model.

PLC

enlargement


Input: We further showed that the FGF2/FGFR pathways may play a role in the directional movement of MSC to the Rif-1 fibrosarcoma.

MSC

fibrosarcoma


Input: In this case control genetic association study, we genotyped four functional polymorphisms in low-affinity FcγRs, including FCGR2A 131H/R, FCGR3A 158F/V, FCGR3B NA1/NA2, and FCGR2B 232I/T, in 117 patients with cryptococcal meningitis and 190 healthy controls by multiplex SNaPshot technology.

cryptococcal meningitis


Input: We quantified urinary mRNA levels of interleukin (IL) 9, IL-10, IL-22, and their corresponding transcription factors in 73 patients with active lupus nephritis, 13 patients with hypertensive nephrosclerosis (HTN), and 25 healthy subjects.

lupus nephritis


Input: Compared to DAF-sufficient littermate controls, DAF-deficient female MRL/lpr mice developed exacerbated lymphadenopathy and splenomegaly, higher serum anti-chromatin autoantibody levels, and aggravated dermatitis.

DAF

splenomegaly


Input: -308G/A TNF-alpha and + 874A/T INF-gamma genes polymorphisms probably do not play important role in pancreatic diseases.

TNF-alpha

pancreatic diseases


Input: Based on these data, it appears that OPG may have tumor-promoting roles in the pathogenesis of lymphangioleiomyomatosis, perhaps acting as both autocrine and paracrine factors.

OPG

lymphangioleiomyomatosis


Input: In heterozygous Dll1 mutant mice endothelial Notch activation and ephrin-B2 induction after hindlimb ischemia were absent, arterial collateral growth was abrogated and recovery of blood flow was severely impaired, but perivascular vascular endothelial growth factor and EphB4 expression was unaltered.

ischemia


Input: Because the new RET alleles described here involve cysteine residues in a region of protein previously associated with FMTC and MEN2A, it is very likely that they represent mutations that predispose to the development of MTC.

RET

FMTC

RET

FMTC


Input: Inactivation of the effectors of replicative senescence, i. e. genes encoding one or more elements of the p16/pRB and/or ARF/p53/p21 anti-proliferative pathways, is required for telomerase depression leading to immortalization.

ARF

depression

ARF

depression


Input: We examined 124 untreated primary breast cancer patients comprising 100 sporadic and 24 familial cases including 56 age-matched healthy controls for the presence of BRCA1, BRCA2 and the p53 gene mutations using PCR-SSCP and direct nucleotide sequencing.

p53 gene

sporadic


Input: Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men.

follicle-stimulating hormone receptor

infertile


Input: BACKGROUND: Mutational loss of tumor suppressor phosphatase and tensin homologue deleted on chromosome ten (PTEN) is associated with malignant progression in many cancers, including colorectal cancer (CRC).

tensin

cancers


Input: Three hundred Chinese (91 normal weight subjects, 209 overweight/obesity subjects) were genotyped for the UCP3 gene-55 (C > T) by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

UCP3 gene

overweight


Input: We found no association between MGMT expression and the somatic mutation spectrum at APC, beta-catenin, K-ras, or p53, but decreased MGMT expression was weakly associated with the presence of a G: C > A: T change at any one of these loci.

MGMT

somatic mutation


Input: We describe the neuropathological and biochemical autopsy findings in 3 patients with autosomal dominant adult neuronal ceroid lipofuscinosis (ANCL, Parry type; MIM 162350), from a family with 6 affected individuals in 3 generations.

MIM

adult neuronal ceroid lipofuscinosis


Input: RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome.


Input: For this purpose, we have investigated the menin gene mutations in 21 sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, and 1 malignant VIP (vasoactive intestinal polypeptide) oma with WDHA (watery diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand conformation polymorphism analysis and DNA sequencing.

VIP

watery diarrhea


Input: Th17 cells, a subset of IL-17-producing T cells distinct from Th1 or Th2 cells has been described as key players in inflammation and autoimmune diseases as well as cancer development.

inflammation


Input: We applied immunohistochemistry to identify, and double-labeling to colocalize, IL-4 and IL-5 to distinct inflammatory cells in resected bronchi from (1) 11 asymptomatic smokers (AS), (2) 11 smokers with CB, and (3) 10 smokers with CB and AO.

asymptomatic


Input: This study investigated the efficacy and safety of vorinostat, a deacetylase (HDAC) inhibitor, in the treatment of laser-induced corneal haze following photorefractive keratectomy (PRK) in rabbits in vivo and transforming growth factor beta 1 (TGFβ1)-induced corneal fibrosis in vitro.

HDAC

corneal haze


Input: Expression of RANTES, eotaxin-2, ICAM-1, LFA-1 and CCR-3 in chronic rhinosinusitis patients with nasal polyposis.

nasal polyposis


Input: Both AP1 and NF-kappaB, transcription factors that regulate IL-2 gene expression, were activated in vivo in sarcoid pulmonary CD4 (+) T lymphocytes.

sarcoid


Input: Our study revealed that ccRCC tumors exhibited a 56% decrease in THRB and a 37% increase in DNA methyltransferase 1 (DNMT1) expression when compared with paired non-neoplastic control samples.

THRB

non-neoplastic


Input: Biotin-responsive basal ganglia disease maps to 2q36. 3 and is due to mutations in SLC19A3.

Biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease


Input: Sibpair analyses performed on i49 multiplex French families with type 2 diabetes excluded MAPK8IP1 as a major diabetogenic locus.

type 2 diabetes

type 2 diabetes


Input: Cisplatin chemotherapy, a mainstay of SCC treatment, promotes dissociation of p63 and HDAC from the PUMA promoter, leading to increased histone acetylation, PUMA activation, and apoptosis.

dissociation


Input: When the expression constructs were injected two days before transient forebrain ischemia, the loss of CA1 hippocampal neurons observed seven days later was significantly reduced on the injected side compared with controls.

ischemia


Input: It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.

dyskerin

X-linked dyskeratosis congenita

dyskerin

X-linked dyskeratosis congenita


Input: In preimplantation embryos, the incidence of chromosomal abnormalities due to a previous aneuploid miscarriage after either NC or ART is significantly higher than in the control group.

ART

miscarriage


Input: The controversial role of Sirtuins in tumorigenesis-SIRT7 joins the debate.

tumorigenesis


Input: To address whether the deficiency in autologous tumor recognition might be related to a deficiency in Ag presentation, we screened for the presence of TAP1 and TAP2 transcripts by polymerase chain reaction, Southern blotting, and scanning densitometry using sequence-specific primers and probes.

tumor


Input: Previous studies suggest that NOLC1 is crucial for normal cell growth, and plays a role in the regulation of tumorigenesis of nasopharyngeal carcinoma (NPC) and demonstrate that both NOLC1 and tumor protein 53 work synergistically to activate the MDM2 promoter in NPC cells.

tumorigenesis


Input: Finally, we investigated whether a period of drug withdrawal for a further 7 days affected the neuroprotection produced by the PPARγ agonists.

PPARγ

drug withdrawal


Input: These findings indicate that the natural 385A SNP in the human FAAH gene produces a mutant enzyme with reduced cellular stability, thus fortifying a potential link between functional abnormalities in the endocannabinoid system and drug abuse and dependence.

FAAH gene

abnormalities


Input: We found that all 21 normal esophageal tissues had unmethylated MGMT; however, among 119 ESCC, 46 (38. 7%) had hypermethylated MGMT.

MGMT

esophageal


Input: Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients.

neurofibromatosis type 1

neurofibromatosis type 1


Input: Airway wall inflammation, IL-4, and mucus hypersecretion are thought to be associated.

inflammation


Input: Human breast carcinoma (MCF7-MLNr) cells resistant to the bifunctional drugs L-phenylalanine mustard (L-PAM, 5-fold resistance), mechlorethamine (9-fold), cisplatin (3-fold), and BCNU (3-fold) were used to investigate the role of DNA repair in the development of resistance to alkylating agents.

MLNr

breast carcinoma


Input: Clinically amyopathic dermatomyositis (C-ADM) is also reported to be complicated with A/SIP, especially in those patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibody.

ADM

amyopathic dermatomyositis


Input: In melanoma, RHAMM mRNA expression was detected in metastases (80%) but not in primary tumors.

RHAMM

melanoma


Input: CRP and SAP are produced primarily in the liver while PTX3 is produced in a variety of tissues during inflammation.

inflammation


Input: As part of the Genetic Epidemiology Network of Arteriopathy study, hypertensive non-Hispanic White sibships were screened using 471 single nucleotide polymorphisms (SNPs) to identify genes influencing coronary artery calcification (CAC) measured by computed tomography.

CAC

coronary artery calcification


Input: To further validate the role of PIN1 in hepatocarcinogenesis, PIN was suppressed by RNA interference (siRNA) in the HCC cell line PLC/PRF/5.

hepatocarcinogenesis


Input: However, JAK2 mutations also occur in about 60% of patients with ET, which underlines the need for BM examination in distinguishing JAK2-mutated ET from PV when the hemoglobin/hematocrit level is diagnostically equivocal (ie, as in " masked " PV).

hemoglobin


Input: The levels of various chemokines (MIP-1α, MCP-1, IL-8 and IP-10) and chemokine receptors (CXCR1, CXCR2 and CCR1) in neutrophils from healthy individuals and pulmonary tuberculosis patients were studied following infection with Mycobacterium tuberculosis strains (clinical--S7 and S10 and laboratory--H37Rv).

pulmonary tuberculosis


Input: Selenium status also modifies the effect of the mitochondrial superoxide dismutase (SOD2) SNP Ala16Val on prostate cancer risk.

prostate cancer

prostate cancer


Input: HbAlc, insulin requirements, body weight, and parameters of the IGF-IGF-binding protein axis were assessed before and during treatment.

IGF

body weight


Input: Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy.

lamin A/C

DCM

lamin A/C

DCM


Input: NEDD4L is involved in the regulation of plasma volume and blood pressure by controlling cell surface expression of the kidney epithelial Na (+) channel.

blood pressure


Input: The results showed ANXA1 down-regulation in dysplastic, tumourous and metastatic lesions and provided evidence for the progressive migration of ANXA1 from the nucleus towards the membrane during laryngeal tumorigenesis.

tumorigenesis


Input: Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).

ADH

alcoholic steatohepatitis


Input: Firm conclusions on the potential interaction between lactobacillus colonization and genetic variations in DC-SIGN in association with the development of allergic disorders cannot be drawn, given the limited power of our study.

DC-SIGN

allergic disorders


Input: Plasma soluble HLA-G is a potential biomarker for diagnosis of colorectal, gastric, esophageal and lung cancer.

HLA-G

esophageal


Input: Another mutant that produces a mild renal phenotype (G47R) was capable of performing all functions of wild-type barttin but bound to ClC-K channels less effectively.

barttin

mild


Input: There was also a significant difference between the current smoking and nonsmoking groups in the allele frequency of the CCK-45C/T polymorphism.

CCK

smoking


Input: These results suggest that the BGP foci may play a very important role in the' de novo' colorectal carcinogenesis from the frequent genetic alterations of p53, and that there may be two major pathways, i. e., the p53-APC pathway and the p53 alone pathway, from the chain of genetic alterations between BGP foci and' de novo' carcinoma.

BGP

carcinogenesis


Input: Microarray and bioinformatics analysis suggested that overexpression of AKR1C3 in PC-3 cells modulates estrogen and androgen metabolism, activates insulin-like growth factor (IGF)-1 and Akt signaling pathways, as well as promotes tumor angiogenesis and aggressiveness.

IGF

aggressiveness


Input: We examined 52 SNPs within the SIRT genes (11 in SIRT1, 7 in SIRT2, 14 in SIRT3, 7 in SIRT4, 9 in SIRT5, and 4 in SIRT6) in 3 independent Japanese populations with type 2 diabetes (study 1: 747 cases (overt proteinuria), 557 controls; study 2: 455 cases (overt proteinuria) and 965 controls; study 3: 300 cases (end-stage renal disease) and 218 controls).

end-stage renal disease


Input: PHEX is predominantly expressed in bones and teeth and in the parathyroid gland of patients with chronic renal failure and tertiary hyperparathyroidism.]

PHEX

chronic renal failure


Input: Screening for HPE-associated genes in humans suggests the involvement of NODAL or SHH signaling, or both.

NODAL

HPE

NODAL

HPE


Input: Store-operated Ca2 + current in prostate cancer epithelial cells. Role of endogenous Ca2 + transporter type 1.

prostate cancer


Input: Overexpression of Nm23H1 but not H2 also inhibited tumorigenesis by human cervical cancer HeLa cells with p53 deficiency.

tumorigenesis


Input: Laboratory markers of low activity of tPA/plasmin were analyzed in 70 schizophrenia adults (DSM-IV), and 98 age-matched controls, consecutively selected at university hospitals.

plasmin

schizophrenia

plasmin

schizophrenia


Input: In contrast, the adhesion avidity of the strains was narrow, normally distributed for high, moderate, or low adhesion reference saliva or pure gp340 regardless of the sequence type.

adhesion


Input: GADD45B inhibits MKK7-induced cardiac hypertrophy and the polymorphisms of GADD45B is associated with inter-ventricular septum hypertrophy.

cardiac hypertrophy


Input: Multifocal occurrence, potential malignancy, genetic aspects, possible coincidence of thyroid carcinoma, and hormone production have to be considered in patients with head and neck PGLs.

PGLs

carcinoma


Input: However, it was reported that traditionally oncolytic adenovirus lack the HCC specificity.

HCC

adenovirus


Input: The presence of a translocation of chromosomal material encoding the Testis-Determining Factor from Y to another chromosome has been one of the hypothesis to explain testicular development in XX sex-reversed patients.

Testis-Determining Factor

translocation


Input: This study establishes the role of both FHC and pHLA in modulating NK cell cytokine secretion and adhesion functions by interacting with KIR3DL1.

adhesion


Input: She had no TEF/EA or heart defects.

TEF

heart defects


Input: Combined prenatal and postnatal expression produced increased aggression and enhanced response to psychostimulants in male mice along with increased linear density of dendritic spines on neurons of the dentate gyrus of the hippocampus, and lower levels of endogenous DISC1 and LIS1.

aggression


Input: Therefore, we have examined the prevalence of TTV in various types of chronic hepatitis in Japan.

TTV

chronic hepatitis


Input: We previously showed that p53 is a major player in cisplatin hypersensitivity and therefore investigated whether Oct-4 may directly affect p53 activity.

hypersensitivity


Input: We studied the PEX26 genotype in fibroblasts of eight CG8 patients--four with the ZS phenotype, two with NALD, and two with IRD.

NALD

NALD


Input: These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.

fibrochondrogenesis

fibrochondrogenesis


Input: Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: This paper reports a summary of our comparative analysis of the uterine expression of interleukin-23 (IL-23), IL-27 and TWEAK in the CBA/J femalexDBA/2 male mouse mating combination, a model of immune-mediated early pregnancy loss.

early pregnancy loss


Input: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.

MRI

neurofibromas


Input: Importantly, a particular mucin gene expression pattern was observed in ileal mucosa close to the ulcer margins in ulcer associated cell lineage, with the appearance of MUC5AC and MUC6 mRNAs and peptides, which are normally restricted to the stomach (MUC5AC and MUC6) and duodenum (MUC6), and disappearance of MUC2.

ulcer


Input: In the presence of a family history of hypertension and detection of 90 kDa ACE, we noted a maximal flow mediated dilation of 12. 1 +/-5. 0 vs 16. 1 +/-6. 0% in those without a previous history of hypertension and lacking urinary 90 kDa ACE (P < 0. 05).

ACE

dilation


Input: Overexpression of Rap1GAP did not enhance the dissociation of cell aggregates nor did it impair the accumulation of β-catenin and E-cadherin at cell-cell contacts.

dissociation


Input: Recently, it was reported that CTF translocated into the nucleus, binding with Fe65 and CP2, and in turn, affected transcription of genes including glycogen synthase kinase-3beta, which results in the induction of tau-rich neurofibrillary tangles and subsequently cell death.

neurofibrillary tangles


Input: Additionally, xenografts derived from HSulf-1-expressing stable clones of carcinoma cells showed reduced vessel density, marked necrosis, and apoptosis, indicative of inhibition of angiogenesis.

necrosis


Input: The expression of CD80, CD86, CD83, and S-100 proteins was assessed in esophageal carcinoma tissues using immunohistochemical method.

esophageal carcinoma


Input: WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.

WISE

asymptomatic


Input: To gain further information on this topic, we compared TPO levels and platelet counts in two series of patients hospitalized for acute illnesses: one with strong elevation of both erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), and the other with normal values.

TPO

erythrocyte sedimentation rate


Input: Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200).

OPG

gliomas


Input: Although the pattern was similar to the DBP response, alpha (1A)-AR Cys347 allelic carriers had only a moderately increased systolic blood pressure (SBP) response at the 2 time points.

DBP

systolic blood pressure


Input: We tested the following hypotheses for HASMCs: 1) smoking with or without airway obstruction modulates IL-8, GM-CSF, and VEGF release; and 2) corticosteroids, but not resveratrol, fail to inhibit cytokine release in COPD.

GM-CSF

smoking


Input: SNAP-25 gene polymorphisms and weight gain in schizophrenic patients.

weight gain


Input: The aim of this study was to analyse whether HLA-DR alleles play a role in the resistance or susceptibility to streptococci-related disorders including rheumatic heart disease (RHD) as a sequela of ARF and recurrent streptococcal pharyngitis in Turkish patients.

ARF

streptococcal pharyngitis


Input: To determine whether patients with schizophrenia and bipolar disorder have different thalamic expression patterns of 2 homeobox genes, DLX1 and SHOX2 (alias OG12X or SHOT) compared with psychiatric and nonpsychiatric control subjects.

homeobox

bipolar disorder

homeobox

bipolar disorder


Input: Plasma NGAL may play a role in the development of insulin resistance in GDM, and the high levels of NGAL expression in SAT in overweight women with GDM suggests that NGAL in SAT is associated with obesity in women with GDM.

NGAL

overweight


Input: Combining adenosine deaminase with propranolol further reduced peak conductance and the hyperemia volume compared with enzyme pretreatment alone.

adenosine deaminase

hyperemia

adenosine deaminase

hyperemia


Input: The ACT polymorphism was analysed in 218 sporadic late-onset AD patients and 101 healthy control subjects from Eastern Finland.

ACT

sporadic


Input: In advanced atherosclerotic lesions, TIMP4 was detected around necrotic lipid cores, whereas TIMP3 and caspase 3 resided within and around the core regions, indicating different roles for TIMP3 and TIMP4 in inflammation-induced apoptosis and in matrix turnover.

caspase 3

necrotic


Input: The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Kniest dysplasia

Kniest dysplasia


Input: The aggressiveness of human gliomas appears to be correlated with the upregulation of interleukin 6 (IL-6) gene.

aggressiveness


Input: Mosquito salivary gland extracts induce EBV-infected NK cell oncogenesis via CD4 T cells in patients with hypersensitivity to mosquito bites.

hypersensitivity


Input: Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.

SMP

hypersensitivity


Input: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

X-linked Cornelia de Lange syndrome

X-linked Cornelia de Lange syndrome


Input: The pathogenesis of the drug-induced valvulopathy is considered FGFR1c-mediated, based on the specificity of the mAbs and FGFR1 mRNA expression in the heart valves.

valvulopathy

valvulopathy


Input: Regarding WASP function in cytoskeletal organization, we investigated whether these platelet abnormalities could be due to a defect in proplatelet formation or in megakaryocyte (MK) migration.

WASP

platelet abnormalities


Input: We report on a secreted protein found in mammalian cochlear outer hair cells (OHC) that is a member of the carcinoembryonic antigen-related cell adhesion molecule (CEACAM) family of adhesion proteins.

carcinoembryonic antigen

adhesion


Input: The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.

bipolar disorder

bipolar disorder


Input: Depression of MAD2 inhibits apoptosis of gastric cancer cells by upregulating Bcl-2 and interfering mitochondrion pathway.

Depression

Depression


Input: Amplification of the HER-2 receptor tyrosine kinase has been implicated in the pathogenesis and aggressive behavior of approximately 25% of invasive human breast cancers.

aggressive behavior


Input: The birth weight lowering effect of the C-allele of rs900400 located near LEKR1 and CCNL1 was replicated in the Danish population.

birth weight


Input: In addition, some studies indicated that MTA1 participated in invasion, metastasis, and survival of cancer cells by regulating cell migration, adhesion and proliferation.

adhesion


Input: Polymorphisms in intron 2, exon 3, and the 3'-UTR were in statistically significant linkage disequilibrium with diabetes in the case-control group (P = 0. 006), but not the sibling pairs (P = 0. 097).

UTR

diabetes


Input: By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line.

lung cancer


Input: A critical role for PKR complexes with TRBP in Immunometabolic regulation and eIF2α phosphorylation in obesity.

TRBP

obesity


Input: Cx43 siRNA, but not mismatch siRNA, alleviated mechanical hypersensitivity in SNL rats.

SNL

hypersensitivity


Input: Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.

NF2 gene

sporadic


Input: Methylation-dependent activation of CDX1 through NF-κB: a link from inflammation to intestinal metaplasia in the human stomach.

inflammation


Input: In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical.

pancreatic aplasia


Input: We have identified six nucleotide changes in the cystatin B gene of non-Finnish EPM1 families from northern Africa and Europe.

cystatin B

cystatin B


Input: In this study we have examined the effect of single-gene deletions for interferon (IFN)-gamma, interleukin (IL)-4, IL-6 or CD28 in B10. S (H-2 (s)) mice on heavy metal-induced autoimmunity.

autoimmunity


Input: We have shown previously that " sporadic " MMP + colon cancers exhibit a paradoxical low incidence of somatic mutations in the p53 tumor suppressor gene and the c-K-ras proto-oncogene.

p53 tumor suppressor gene

sporadic


Input: In this study, we show how Ras activation causes aberrant nuclear localization of phosphorylated mitogen-activated protein (MAP)/extracellular signal-regulated kinase (ERK; MEK) MEK1/2 to drive neoplastic transformation.

neoplastic transformation


Input: Arginase type II (ARG2), ethylmalonic encephalopathy 1 (ETHE1), transmembrane protein 176A (TMEM176A) and TMEM176B genes were significantly confirmed in the validation set.

ethylmalonic encephalopathy


Input: Non-allele-specific ALK RT-qPCR revealed ALK overexpression and 5' RACE PCR revealed that the patient' s lymphoma expressed a TRAF1-ALK fusion.

RACE

lymphoma


Input: KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function.


Input: Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.

Myoclonus-dystonia syndrome

Myoclonus-dystonia syndrome


Input: In comparison with UCP3-55CC carriers, children carrying-55CT and TT showed a significant reduction in the risk of overweight (OR, 0. 67; 95% CI, 0. 46-0. 98; P = 0. 039).

overweight


Input: The association between SNPs and plasma PTX3 levels was tested across genotypes in a subset of recipients with idiopathic pulmonary fibrosis.

idiopathic pulmonary fibrosis


Input: Selective GPR55 antagonism reduces chemoresistance in cancer cells.

cancer

cancer


Input: Higher perilipin 2, angiopoietin-like 4 and fatty-acid binding protein 4 mRNA levels in OP suggest activation of other transcription factors or hypoxic conditions in OP bone.

perilipin 2

hypoxic


Input: The expression pattern of genes known to be involved in the pathogenesis of sporadic CRC was assessed immunohistochemically: E-cadherin, beta-catenin, deleted in colon cancer (DCC), and p53.

sporadic


Input: Efficient cross-presentation of disulfide-rich antigens requires a complex pathway involving GILT-mediated reduction, unfolding, and partial proteolysis, followed by translocation into the cytosol for proteasomal processing.

GILT

translocation


Input: The effect of early intervention with a peroxisome proliferator-activated receptor-gamma (PPARgamma) agonist on skeletal muscle GLUT4 translocation and insulin signaling was examined in intrauterine (IUGR) and postnatal (PNGR) growth-restricted pregestational female rat offspring.

peroxisome proliferator-activated receptor-gamma

translocation


Input: At preoperative evaluation, 54% of the study group had a well-differentiated HCC, 42% had AFP mRNA in the blood, 40% had a tumor larger than 5 cm and 56% had more than one nodule.

HCC

nodule


Input: METHODS: We evaluated the methylation status of four genes (TGFB2, SLIT2, HS3ST2, and TMEFF2) in biopsies of four groups of patients: 60 patients with sporadic CRC, 32 patients with IBD-associated neoplasia, 85 patients with IBD without associated neoplasia (20 at high risk and 65 at low risk), and 28 healthy controls.

sporadic


Input: NIK-and IKKβ-binding protein promotes colon cancer metastasis by activating the classical NF-κB pathway and MMPs.

NIK

colon cancer


Input: Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

fumarylacetoacetase

tyrosinemia type 1

fumarylacetoacetase

tyrosinemia type 1


Input: Notch3 and Notch4 are not expressed in normal liver and in chronic hepatitis surrounding HCC.

HCC

chronic hepatitis


Input: Among pulmonary tuberculosis patients (PTB), Esp1 (3/11) and Esp6 (5/11) were recognized.

pulmonary tuberculosis


Input: We compared the density of neurofibrillary tangles (NT) and neuritic (senile) plaques (NP) in 10 cortical areas, the amygdala, the hippocampus, the parahippocampal gyrus, and the cerebellum in patients with familial (FAD) and sporadic (SAD) Alzheimer' s disease with early (< 55 years), intermediate (55-70 years) and late (> 70 years) ages of onset of dementia and age-matched controls.

FAD

sporadic


Input: Since HCC develops mainly in patients with chronic hepatitis or cirrhosis induced by viral or inflammatory factors, understanding the role of LECT2 in liver carcinogenesis is of interest and may lead to new therapeutic perspectives.

HCC

chronic hepatitis


Input: There is still controversy over the role of TTV in chronic hepatitis.

TTV

chronic hepatitis


Input: Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.

Mas

thrombosis

Mas

thrombosis


Input: Three hundred and eight unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions.


Input: We also observed that CST6, CXCL14, DHRS3, and SPP1 were associated with PTC lymph node metastasis, with CST6, CXCL14, and SPP1 being positively correlated with metastasis and DHRS3 being negatively correlated.

lymph node metastasis


Input: These observations indicate that IL-21 amplifies an inflammatory milieu that promotes CAC, and suggest that IL-21 blockade may be useful in reducing the risk of UC-associated colon cancer.

CAC

colon cancer


Input: In AMI patients with in-hospital complications (n = 15; pump failure in ten, recurrent myocardial infarction in one, malignant ventricular arrhythmia in three and cardiac death in one), spontaneous and stimulated levels of TACE and TNF-alpha were higher than in patients without complications (P < 0. 01).

TNF-alpha

cardiac death


Input: In conclusion, transplantation of normal hepatocytes prevented fulminant hepatitis, reduces chronic inflammation, and improved 6-month survival in LEC rats.

LEC

fulminant hepatitis


Input: Whereas the involvement of the NF1 gene in neurofibroma development in NF1 patients has been fairly well characterized, the significance of inactivation of this gene in sporadic neurofibromas remains less well investigated.

NF1 gene

sporadic


Input: We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype.

ARCI

ARCI


Input: It acts via two distinct receptors, ET-A and ET-B, and is involved in inflammation and atherogenesis.

ET-A

inflammation


Input: Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c. 811delA; p. Ser271fs) in & lt; i & gt; KRT83 & lt;/i & gt;, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin.

keratin 83

PSEK

keratin 83

PSEK


Input: A total of 102 SCD patients underwent biomicroscopical and retinal examination, in addition to evaluations of haemoglobin (Hb) and haematocrit (Ht) levels, fetal haemoglobin (HbF) estimations, serum creatinine and albuminuria levels, glomerular filtration rate (GFR) values, phenotypes, beta-globin gene haplotypes and alpha-thalassaemia.

GFR

albuminuria


Input: Methylation analysis in four genes (MDR1, IL8, RARB, TGFBR2) previously linked to HNSCC or inflammation shows significantly increased methylation in tumor samples compared with normal oral mucosa.

inflammation


Input: Notably, cDNA sequencing of Wnt/beta-catenin pathway regulatory genes, including adenomatous polyposis coli, GSK3beta, axin 1, beta-catenin, lymphoid enhancer factor-1, cyclin D1, and c-myc, revealed a novel in-frame splice deletion of the GSK3beta kinase domain in the GMP of BC samples that was not detectable by sequencing in blasts or normal progenitors.

GMP

adenomatous polyposis coli


Input: Associations between PITX2 methylation and biochemical recurrence were assessed using the log rank test and Cox regression controlling for prostate cancer features.

regression


Input: Polypeptide YY (PYY) cells and tissue levels of PYY, SP and VIP were significantly decreased in the IL-2-/-mice during the course of bowel inflammation compared with the healthy IL-2 +/-and IL-2 +/+ controls.

inflammation


Input: Proviral DNA coding for the Tax protein was found by polymerase chain reaction amplification in DNA extracted from lesions of every patient with TSP/HAM or HTLV-I-associated polymyositis.

TSP

polymyositis


Input: Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum.

X linked hydrocephalus

X linked hydrocephalus


Input: For the second aim, we performed CDY1-DAZ gene dosage in 229 infertile patients and 263 normozoospermic controls.

DAZ

infertile


Input: Moderately immunogenic HPV16-associated tumours TC-1 (MHC class I +, HPV16 E6/E7 +, G12V Ha-ras +) and MK16/1/IIIABC (MK16, MHC class I-, HPV16 E6/E7 +, G12V Ha-ras +), both of the H-2b haplotype and transplanted in syngeneic mice, were used to examine the effects of local IL-2 and GM-CSF cytokine or gene therapy in the treatment of minimal residual tumour disease.

residual tumour


Input: Possible future targeting for " hypoxic " glioma cells includes the targets for the AP-1 transcription factor complex (FOS), as well as blockade of the enzyme AKR1C3 with nonsteroidal anti-inflammatory drugs.

FOS

hypoxic


Input: Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE (SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.

XP group D

XP group D


Input: In addition, strong expression of SAA mRNA and protein was found in the ovarian carcinoma cell line OVCAR-3.

SAA

ovarian carcinoma


Input: Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).

MTR

microsatellite instability


Input: SAT1 cortical expression levels were also found to be significantly lower in an independent sample of German subjects with major depression who died by suicide in comparison with controls.

major depression

major depression


Input: Thus TSP-1 might mediate AGE-induced distal renal tubule hypertrophy.

hypertrophy


Input: Here, we show that caveolin-1 protein expression is consistently reduced in a panel of lung and cervical cancer derived cell lines and that this reduction is not due to hyperactivation of p42/44 MAP kinase (a known negative regulator of caveolin-1 transcription).

cervical cancer


Input: Long-term antidepressant treatment restores clonidine' s effect on growth hormone secretion in a genetic animal model of depression.

growth hormone

depression

growth hormone

depression


Input: At low nanomolar concentrations, BPA, TBBPA, and TCBPA decreased chemerin expression and secretion only in granulosa cell tumor COV434 cells by both peroxisome proliferator-activated receptor & #947; and estrogen receptor signaling pathways.

chemerin

granulosa cell tumor

chemerin

granulosa cell tumor


Input: The efficacy of CHK1 inhibitors is not altered by hypoxia, but is enhanced after reoxygenation.

hypoxia


Input: The next best SNP was rs12201676 located at 6q15 (p = 2. 67 & #215; 10 (-4), 2. 12 & #215; 10 (-5), 3. 88 & #215; 10 (-8) for schizophrenia, bipolar disorder and meta-analysis, respectively), near two flanking genes, GABRR1 and GABRR2 (15 and 17kb away, respectively).

bipolar disorder

bipolar disorder


Input: The present findings are the first to disclose an association between the pro-ghrelin and GHS-R1A genes and heavy alcohol use, further strengthening the role of the ghrelin system in addictive behaviors and brain reward.

heavy alcohol use

heavy alcohol use


Input: Methylation-specific PCR (MSP) analysis showed that four of 13 ovarian cancer cell lines and two of 17 primary ovarian cancers had methylated SFRP1, while an immortalized ovarian epithelial cell line, HOSE, and seven ovarian endometrial cyst samples did not.

endometrial cyst


Input: Follicular thyroid carcinoma but not adenoma recruits tumor-associated macrophages by releasing CCL15.

tumor


Input: CLPTM1L expression was required in vitro for morphologic transformation by H-RasV12 or K-RasV12, anchorage-independent growth, and survival of anoikis of lung tumor cells.

lung tumor

lung tumor


Input: In this study, the clinical value of reverse transcription-polymerase chain reaction (RT-PCR) to amplify mRNA for tyrosine hydroxylase (TH) and magnetic resonance imaging (MRI) during the clinical course of patients with advanced neuroblastoma, was evaluated.

MRI

neuroblastoma


Input: NAT are polymorphic in the population and metabolize important carcinogenic products directly involved in the tumor initiation process.

NAT

tumor initiation


Input: The males bearing alcoholism-susceptible homozygotes at both loci (inactive ADH1B Arg/Arg and active ALDH2 Glu/Glu genotypes) have a 10 times greater risk for suicide compared with the males bearing alcoholism-protective homozygotes at both loci.

suicide


Input: This comprehensive analysis of literature-based candidate genes suggests that SNPs in several candidate genes, including TGFB1, IL1RL1, IL18R1, and DPP10, might contribute to childhood asthma susceptibility in a Mexican population.

asthma susceptibility


Input: GRIP1 (-/-) embryos develop abnormalities of the dermo-epidermal junction, resulting in extensive skin blistering around day 12 of embryonic life.

abnormalities


Input: Comparing genotypes for measures of poor lung function, inflammation, and admission to intensive care, these authors identified three variants of the SP-A gene SFTPA2 that positively correlated with flu severity.

SP-A

flu


Input: Among some SAD patients, it is possible that the sustained ingestion of high-fat diet will rather activate the transcription of the neuropeptide Y gene than deactivate it, indicating a defect in macronutrient selection.

neuropeptide Y

SAD

neuropeptide Y

SAD


Input: And higher expression of SPRY4-IT1 was found in renal cancer cell lines compared with the normal human proximal tubule epithelial cell line HK-2.

renal cancer


Input: On the contrary, DOK1 was found to be strongly overexpressed in serous EOC tumors as compared to normal tissue and importantly, DOK1 overexpression significantly correlated with improved progression-free survival (PFS) values of serous EOC patients.

tumors


Input: Finally, T cells from low-IFN-response patients exhibited functional abnormalities, including decreased expression of activation markers CD69, CD25, and CD71; TH1 cytokines interleukin-2, IFN-gamma, and tumor necrosis factor alpha, and reduced survival following stimulation with anti-CD3/CD28 antibodies compared to controls.

abnormalities


Input: Thus, altered SERT activity represents a potential contributor to serotonergic abnormalities in TD.

SERT

abnormalities


Input: C57Bl/J6 mice were treated with vehicle, CoPP (20 mg/kg), CoPP plus the HO-1 inhibitor tin protoporphyrin (SnPP; 20 mg/kg) or SnPP alone for 18 h. Intravital microscopy was used to quantitate thrombus formation in cremaster arterioles in response to laser ablation of the endothelium.

HO

thrombus

HO

thrombus


Input: Several transgenic mouse models of Hippo pathway members (Nf2, Mob1, LATS1 and YAP1 mutants) develop various types of sarcoma.

sarcoma


Input: The IGF-1R-expression correlated positively with the MIB-1 index in neurofibroma (r = 0. 372, p = 0. 021, N = 38).

neurofibroma


Input: The patients who developed impotence were maintained on higher doses of sulpiride and exhibited higher prolactin levels in comparison to the potent patients.

prolactin

impotence

prolactin

impotence


Input: The persistently expanded TCR-beta chain sequences of CD4 + peripheral blood T cells were identifiable in genomic DNA isolated from archival tissue of intestine from subjects with Crohn' s disease and ulcerative colitis by Southern blotting and direct DNA sequencing.

ulcerative colitis


Input: We have shown that MM cells express the cell surface adhesion molecules CD29/CDw49d (VLA-4), CD18/CD11a (LFA-1) and CD44, and may localize to marrow via specific adherence to both extracellular matrix proteins and to bone marrow stromal cells (BMSCs).

adhesion


Input: MRI performed at 4 months of age showed tight posterior fossa, bilateral perisylvian polymicrogyria, enlargement of the straight sinus, and a thickened corpus callosum.

MRI

enlargement


Input: LOX affects the EMT of gastric cancer cells in hypoxic conditions.

LOX

hypoxic


Input: Excessive CD14 mRNA expression may enhance synthesis and release of TNF-alpha stimulated by endotoxin translocation, and the interaction between CD14 and TNF-alpha may play an important role in mediating multiple organ damage secondary to major burns.

TNF-alpha

translocation


Input: However, little is known about the effects of nuclear HMGB1 on cardiac hypertrophy and heart failure.

cardiac hypertrophy


Input: However, reduced expression of SOCS3 occurred not only in HCC but also in nontumor regions, and this reduction was stronger as the fibrosis grade increased.

HCC

fibrosis


Input: The CCR5 chemokine receptor directs the immune response to a Th1 pattern and the mutant allele of this genotype (Δ32/Δ32) results in a less effective response, thus leading to a milder inflammation.

inflammation


Input: We have extended previous studies to investigate the expression of a comprehensive range of CT genes (MAGE-A1,-A3,-A6,-A12, BAGE, GAGE, HAGE, LAGE-1, NY-ESO-1 and RAGE) for their expression in a cohort of acute and chronic myeloid leukaemia patient samples.

chronic myeloid leukaemia


Input: APOA1 + 83 M2 (+/-) and APOC3 SstI polymorphisms were not associated with gallstone disease.

gallstone disease


Input: These observations point to a cardiovascular protective effect of PTX3 potentially associated with the ability of tuning inflammation and favor the hypothesis that the increased levels of PTX3 in subjects with cardiovascular diseases may reflect a protective physiological mechanism, which correlates with the immunoinflammatory response observed in several cardiovascular disorders.

inflammation


Input: The role of TBX2 and TBX4 in pulmonary hypertension warrants investigation.

pulmonary hypertension


Input: Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.

CEL

CEL


Input: These observations suggest a major role for nm23-H1 and nm23-H2 in tumorigenesis of unfavorable neuroblastomas.

tumorigenesis


Input: In this study, we determined the methylation frequency of 5 genes, including p16, Runx3, MGMT, DAPK, and RASSF1A, by methylation-specific polymerase chain reaction, in a series of formalin-fixed paraffin-embedded tissues including normal gastric mucosa (n = 20), intestinal metaplasia (n = 14), gastric epithelial dysplasia (n = 27), and early gastric adenocarcinoma (n = 16).

MGMT

epithelial dysplasia


Input: Our findings indicate that miR-204/miR-211 downregulation accounts at least partially for the Hmx1 upregulation and the miR-204/miR-211-Hmx1 signaling axis may contribute to immune-suppression in the host thereby the Candidemia-induced kidney dysfunction.

kidney dysfunction


Input: In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.

retinal degeneration


Input: This is the first study to provide a direct demonstration that p53 dysfunction can arise in a sporadic tumor by a mechanism that does not involve TP53 mutation.

sporadic


Input: In hippocampus, neurons in the CA1 region are more susceptible to ischemia-induced neuronal death than neurons in the CA3 region, and in response to transient forebrain ischemia a family of calcium-dependent receptors for alpha-latrotoxin is differentially expressed in the two regions.

ischemia


Input: Essential requirement of toll-like receptor 4 expression on CD11c + cells for locoregional immunotherapy of malignant ascites using a streptococcal preparation OK-432.

malignant ascites


Input: For multivariate analysis risk factors, such as gender, age at diagnosis, history of urinary tract infection, reflux grade and ACE genotype, were analyzed in logistic regression model.

ACE

reflux


Input: Patient genotypes for CYP2B6 (* 6 & * 11), CYP3A5 (* 3, * 6 & * 7) and ABCB1 c. 4046A > G, baseline biochemistries and CD4 and viral load change from baseline were determined.

viral load


Input: Here we report the characterization of a human NK cell subset located in mucosa-associated lymphoid tissues, such as tonsils and Peyer' s patches, which is hard-wired to secrete interleukin (IL)-22, IL-26 and leukaemia inhibitory factor.

leukaemia


Input: In the present study, we examine the effects of 1R-Chl on transcription of other members of the H4 gene family, with the result that mRNA transcription of most genomic copies of H4 are down-regulated by 1R-Chl in a human pancreatic cancer cell line (MIA PaCa-2), but not in a cell line of non-cancerous origin (HEK293 cells).

H4 gene

pancreatic cancer


Input: In the Avon Longitudinal Study of Parents and Children, rapid infancy weight gain was associated with increased risk of obesity at 5 and 8 years, with evidence of insulin resistance, exaggerated adrenarche and reduced levels of sex hormone binding globulin (SHBG).

SHBG

insulin resistance


Input: Successful treatment of acute promyelocytic leukemia with a t (X; 17) (p11. 4; q21) and BCOR-RARA fusion gene.

BCOR

acute promyelocytic leukemia

BCOR

acute promyelocytic leukemia


Input: We explored the effect of CYP1B1 genotype on breast cancer risk in subgroups defined by body mass index, family history, smoking and catechol-O-methyl transferase genotype, but found no convincing evidence for interaction.

smoking


Input: Previously, the vacuolar H (+)-ATPase subunit gene ATP6V0A1 was found within the confidence interval for linkage with catestatin secretion in a genome-wide study, and its 3'-UTR polymorphism T + 3246C (rs938671) was associated with both catestatin processing from CHGA and population blood pressure.

blood pressure


Input: Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

uroporphyrinogen III synthase

Congenital erythropoietic porphyria

uroporphyrinogen III synthase

Congenital erythropoietic porphyria


Input: The relationship between smoking and colorectal cancer risk and whether such effect is modified by variations in the NAT2 genotype is investigated.

smoking


Input: MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.

MYB

angiocentric glioma

MYB

angiocentric glioma


Input: The relationship between Helicobacter pylori infection and gastric antrum adenocarcinoma (GAA) has previously been demonstrated and supported with strong epidemiological evidence.

GAA

adenocarcinoma


Input: Proteinuria, histopathology, polymorphonuclear (PMN) influx, expression of tubulointerstitial markers for oxidative stress 4-hydroxy-2-Nonenal (HNE) and fibrosis (α-smooth muscle actin), proximal tubular damage (Kim-1), Peroxisome Proliferator-Activated Receptor γ (PPAR γ) and inflammatory cytokines [Monocyte Chemotactic Protein-1, tumor necrosis factor-alpha (TNF-α) and Transforming growth factor beta (TGF-β)] were analyzed.

HNE

fibrosis


Input: These findings demonstrate that 1) FISH is an effective and economical method to reveal cryptic abnormalities of band 4q22-q24 resulting in TET2 deletions; 2) in these patients, TET2 deletion is the unifying genetic event; and 3) the different breakpoints within the 4q22-q25 region suggest that deletions are not mediated by repetitive sequences.

abnormalities


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

depression

depression


Input: Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Camurati-Engelmann disease

Camurati-Engelmann disease


Input: This study was performed to evaluate the methylation status of p16INK4a and p14ARF genes, as well as its association with p16 and p53 expression, microsatellite instability (MI) status, and various clinicopathologic parameters in sporadic colorectal cancer.

sporadic


Input: Low grade B-cell non-Hodgkin' s lymphomas (B-NHL) represent a markedly heterogeneous group of lymphoproliferative disorders, including B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CCL/SLL), lymphoplasmacytoid lymphoma (LPL), follicular lymphoma (FL), mucosa-associated lymphoid tissue lymphoma (MALTL), and splenic lymphoma with villous lymphocytes (SLVL).

LPL

follicular lymphoma


Input: The metastatic liver tumors showed focal, negative or sporadic positive appearances of p53, however, Ki-67 LI were scattering among them.

sporadic


Input: The NPPA T2238C and SCNN1A A663T were associated with decreased fasting insulin levels after adjusting for body mass index (P = 0. 015 and 0. 028).

body mass index


Input: Furthermore, one of the BFPP-associated mutations, L640R, does not affect collagen III-induced lipid raft association of GPR56.

BFPP

BFPP


Input: HDAC9, TWIST1 and FERD3L gene expression in asymptomatic stable and unstable carotid plaques.

asymptomatic


Input: At baseline, after 2 and 4 months, and every 6 months thereafter, GFR (51Cr-EDTA-clearance), albuminuria and 24-h blood pressure were determined.

GFR

albuminuria


Input: In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals.

osteoporosis

osteoporosis


Input: In multiple linear regression models including adjustment for age, sex, smoking and genotype, the adjusted relative risks (and 95% confidence intervals) were 1. 18 (0. 98-1. 41) and 0. 84 (0. 69-1. 00) for carriers of XRCC1 codon 280 and BLHX codon 1450 variant alleles, respectively.

smoking


Input: In the replication, two of these 18 SNPs showed nominal significance: the VDBP rs12512631 T > C was associated with a better DSS [combined hazards ratio (HR) = 0. 66]; and the same for RXRA rs7850212 C > A (combined HR = 0. 38), which were further confirmed by the Fine and Gray competing-risks regression model.

RXRA

regression


Input: The HGF + G-CSF group exhibited improved left ventricular systolic and diastolic function and experienced less adverse ventricular remodeling, as manifested by decreased left ventricular dilatation and increased border zone wall thickness.

HGF

ventricular remodeling


Input: Fourier-domain 3D OCT was performed in a number of symptomatic and asymptomatic subjects from these two pedigrees.

OCT

asymptomatic


Input: Family members of an apparently sporadic case of atrial standstill underwent genetic screening of SCN5A and atrial-specific genes including Cx40.

atrial standstill


Input: Schizophrenia subjects showed significant decreases in mRNA levels of GAD (67), GAD (65), GAT-1, mGluR2, and neuronal nitric oxide synthase.

Schizophrenia

Schizophrenia


Input: We present a haplotype-phenotype correlation study of CAPN10 haplotypes in 148 women showing ecographically detected polycystic ovaries (PCO) combined with one or more of these clinical symptoms: amenorrhea or severe oligomenorrhea, hyperandrogenism, and anovulatory infertility, as well as 93 unrelated controls.

amenorrhea


Input: However, analysis of the concurrence of the double genotypes of the TAP-1 polymorphism at codon 333 and the LT-alpha genes showed differences between controls and atopic patients (P < 0. 02).

TAP

atopic


Input: These results raise the possibility that mutation of the SOD1 is responsible for FALS with broader pathological involvement.

FALS

FALS


Input: These findings suggest that loss of PBRM1 or BAP1 are key events in ccRCC, whereas other pathways may support tumorigenesis in non-ccRCC subtypes.

tumorigenesis


Input: By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.

IFN

hyperplasia


Input: The expression of estrogen receptor (ER), progesterone receptor (PR), tumor suppressor oncogene p53, and Ki-67 was compared in uterine smooth muscle tumors, including leiomyosarcoma (LMS), tumor of uncertain malignant potential (UMP), cellular leiomyoma (CL), bizarre leiomyoma (BL), and usual leiomyoma (UL).

cellular leiomyoma


Input: ERT improves CAC and endothelial function and thus may attenuate development of cardiovascular disease in the long term in this patient population.

ERT

cardiovascular disease


Input: Recent studies reported that SPOP may be a tumor suppressor gene (TSG) and somatic mutation of SPOP was detected in prostate cancer (PCA).

TSG

prostate cancer


Input: Recently, an IL6 promoter polymorphism (G/C) at position-174 was found to be associated with measures of insulin sensitivity.

insulin sensitivity


Input: Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects.

MTOR

FCDII

MTOR

FCDII


Input: We generated HLA-DR3. Abetao and HLA-DQ8. Abetao transgenic mice in NOD and HLA-DQ8. Abetao in B10 background to study spontaneous autoimmunity.

autoimmunity


Input: The p53 mutations detected in hereditary tumors included rare single nucleotide deletions and unusual double-base substitutions compared to the typical ultraviolet light induced missense mutations found in sporadic tumors.

sporadic


Input: In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization.

PPARG

translocation


Input: We found that overexpression of GRK2 through recombinant adenovirus transduction inhibits the growth of human HCC cells.

HCC

adenovirus


Input: We found that EMMPRIN-2 overexpression and Cathepsin B down-regulation significantly inhibited the invasion, migration and adhesion of Tca8133 cells, suggesting that Cathepsin B is required for EMMPRIN-2 enhanced cell migration and invasion in head and neck cancer.

Cathepsin B

adhesion


Input: Logistic regression identified the following as predictors of albuminuria: GG genotype: P = 0. 003 (OR 4. 2; CI 1. 61-10. 96); low GFR: P = 0. 003 (OR 0. 97; CI 0. 95-0. 99); and high plasma adiponectin: P = 0. 012 (OR 1. 07; CI 1. 01-1. 14).

GFR

albuminuria


Input: The presence of multiple, low-molecular-weight, insulinlike growth factor (IGF)-binding proteins in lung tumor cell-conditioned medium and lung cancer patient serum has been recently reported.

IGF

weight


Input: Compared with Wistar-Kyoto (WKY) rats, there were marked increases in systolic blood pressure and profilin-1 expression and reduced ACE2 and peroxisome proliferator activated receptor-γ (PPARγ) levels in aorta of SHR, associated with elevated extracellular-signal regulated kinase 1/2 (ERK1/2) and c-Jun N-terminal kinase (JNK) phosphorylation signaling and aortic hypertrophy characterized with increased media thickness, which were strikingly reversed by telmisartan.

JNK

hypertrophy


Input: Strikingly, TCR ligation in activated T cells triggered increased recruitment of SAP to NTB-A, dissociation of the phosphatase SHP-1, and colocalization of NTB-A with CD3 aggregates.

NTB-A

dissociation


Input: Loss of striatal cannabinoid CB1 receptor function in attention-deficit & #8202;/& #8202; hyperactivity disorder mice with point-mutation of the dopamine transporter.

attention-deficit

attention-deficit


Input: Mutation of the PI3' kinase gene in a human colon carcinoma cell line, HCC2998.

colon carcinoma


Input: Because monocyte activation and differentiation influence retroviral transcription and replication, we investigated the contribution of these processes to the expression of four HERV families (HERV-W, HERV-K, HERV-E, and HERV-H) in human monocytes, and autopsied brain tissue from patients with brain diseases associated with increased macrophage activity.

HERV-W

brain diseases


Input: Nonproliferative fibrocystic lesions showed variable expression of p68, with high levels seen within foci of apocrine metaplasia and low levels in cystically dilated terminal duct units.

apocrine metaplasia


Input: TRIF (-/-) mice infected with K. pneumoniae showed impaired survival and reduced bacterial clearance, neutrophil influx, histopathologic evidence of inflammation, and TNF-alpha, IL-6, KC, MIP-2, but not LIX, expression in the lungs.

LIX

inflammation


Input: K8-and K18-overexpressing pancreata were histologically similar to WT, whereas K8/K18 pancreata displayed age-enhanced vacuolization and atrophy of the exocrine pancreas and exhibited keratin hyperphosphorylation.

atrophy


Input: Small interfering RNA (siRNA) targeting LOX was used to silence LOX expression of hypoxic NSCLC cells, SPCA1 and A549.

LOX

hypoxic


Input: This study aims to investigate whether NRP-1 expression is associated with the clinicopathology of gastric cancer, and involved in the growth and metastasis of gastric cancer cells.

NRP

gastric cancer


Input: The P50 of the stripped hemolysis was normal.

hemolysis


Input: Point mutations on the human skeletal muscle Ca2 + channel give rise to hypokalemic periodic paralysis and malignant hyperthermia.

malignant hyperthermia


Input: DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.

tumorigenesis


Input: TMP treatment can inhibit such increase and even make the adhesion probability lower than the resting state.

TMP

adhesion


Input: Antisense significantly reduced (by about 50%) the volume of water drunk in response to intracerebroventricular (icv) renin or isoproterenol but did not reduce drinking in response to the physiological challenge of icv angiotensin II, icv carbachol, intravenous hypertonic saline, water deprivation or subcutaneous injection of polyethylene glycol.

renin

drunk

renin

drunk


Input: Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis.

PDGFRA

abnormalities


Input: p53 hypersensitivity is the predominant mechanism of the unique responsiveness of testicular germ cell tumor (TGCT) cells to cisplatin.

hypersensitivity


Input: Several polymorphisms of the Pitx3 gene have been linked with sporadic and early-onset forms of PD, but different studies have given conflicting or inconsistent findings.

Pitx3 gene

sporadic


Input: Our result illustrates the repertoire of KRT9 mutation underlying the occurrence of EPPK in a Japanese family and is an important contribution to the investigation of the genotype/phenotype correlation.

EPPK

EPPK


Input: To explain the observations in the context of chlamydial infection and trachoma we propose a two-stage model of response and disease that balances the cytolytic response of KIR expressing NK cells with the ability to secrete interferon gamma, a combination that may cause pathology.

KIR

trachoma


Input: Interactome analysis identified four PR-genes in signaling pathways whose dysregulation is correlated directly with pathogenesis: GRK5 and KLK6 in Alzheimer' s disease; FGF14 in craniosynostosis, mental retardation and FLT1 in neuroferritinopathy.

neuroferritinopathy


Input: Our results suggest that 17 SNPs within GRIA1, GRIA2 and GRIA4 may not be associated with the development and treatment outcomes in BD.

BD

BD


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

LIPC

smoking


Input: Our findings implicate MST1 as a key determinant of neurodegeneration in ALS.

neurodegeneration


Input: Patients with nephrotic-range proteinuria show a significant increase in tubulointerstitial expression of IL-10, whereas the immunoreactivity for TNF-alpha reflects the extent of interstitial fibrosis.

proteinuria


Input: According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population.

major depression

major depression


Input: All five pancreatic cancer cell lines showed DR5 protein expression and varying sensitivity to TRA-8-mediated cytotoxicity.

pancreatic cancer

pancreatic cancer


Input: A subset of human MPNSTs, both NF-1-related and sporadic, overexpress EGFR via true genomic amplification of the short arm of chromosome 7 (7p12).

EGFR

sporadic


Input: SAA-positive hepatocellular neoplasms/nodules showed significantly more extensive sinusoidal dilatation, inflammatory reaction, abnormally thick arteries and cellular atypia than FNH-like nodules (P < 0. 05).

SAA

dilatation