Input: In this study, 94 unrelated familial prostate cancer cases from the University of Michigan Prostate Cancer Genetics Project (n & #160; = & #160; 54) and Johns Hopkins University (n & #160; = & #160; 40) were subjected to targeted next-generation sequencing of the exons, including UTRs, of NBN.

NBN

familial prostate cancer

NBN

familial prostate cancer


Input: Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

HGSNAT

Sanfilippo syndrome type C

HGSNAT

Sanfilippo syndrome type C


Input: Their sensitivity and specificity to detect HPV in LBC, their predictive values of histopathologic CIN2-3 in follow-up punch biopsies and CIN2-3 regression in the subsequent cones was assessed.

LBC

regression


Input: Promoter hypermethylation of the RIZ1 gene was found in 31 (69%) of 45 gastric carcinoma tissues and in 3 (21%) of 14 corresponding non-neoplastic mucosae, the incidence being significantly different (p = 0. 002).

non-neoplastic


Input: This may be due to upregulation of VEGF under hypoxia, as treatment of cells with the VEGF receptor antagonist CPO-P11 attenuated hypoxia-induced nestin expression.

VEGF

hypoxia


Input: The risk for thromboembolic disease in lupus anticoagulant patients due to pathways involving P-selectin and CD154.

P-selectin

lupus anticoagulant


Input: To test the association between insulinlike growth factor 2 (IGF2) ApaI and IGF2 receptor (IGF2R) Gly1619Arg gene polymorphisms and idiopathic male infertility.

male infertility


Input: We conclude that elevated sCD40L promotes platelet-leukocyte activation and recruitment and neointima formation after arterial injury, potentially through enhancement of platelet P-selectin and leukocyte Mac-1 expression and oxidative activity.

arterial injury


Input: The present study shows that ERBB3 does not play a major role in conferring susceptibility to schizophrenia in the Japanese population.

schizophrenia

schizophrenia


Input: Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.

axial hypotonia

axial hypotonia


Input: Histochemical examination of the tumors revealed that AAV-HGFK1 + Ad-p53 combinatorial treatment not only induced necrosis and apoptosis in the tumors but also suppressed tumor angiogenesis.

AAV

tumor angiogenesis


Input: While the majority of carcinoma patients were anemic, no relationship between the level of colon tissue ferritin and TfR1 and the systemic parameters of iron metabolism was evident.

carcinoma


Input: Our data suggest that CLU may regulate aggressive behavior of human CRCC cells through modulating ERK1/2 signaling and MMP-9 expression.

CLU

aggressive behavior


Input: Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.

CFNS

CFNS


Input: Patients with the N34S mutation presented with earlier symptom onset and more dilatation of the main pancreatic duct, followed by more frequent surgical and/or endoscopic intervention and pancreatic cancer development than those without SPINK1 mutations.

dilatation


Input: In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse.

HGPPS

HGPPS


Input: Here we review recent advances in the role of ABCA1 and ABCG1 in HDL metabolism, macrophage cholesterol efflux, inflammation, and atherogenesis.

inflammation


Input: METHODS: The expression levels of Dicer, Drosha, and Exportin 5 were determined using Real-Time qPCR in 40 patients with urothelial carcinoma of the bladder.

Exportin 5

carcinoma of the bladder


Input: The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction.

autism

autism


Input: We screened PAX4 coding sequences in 46 MODY probands without mutation in known MODY genes and in 74 nondiabetic controls using PCR-single-stranded conformational polymorphism analysis followed by direct sequencing.

MODY

MODY


Input: In addition, blockade of phosphatidylinositiol 3-kinase (wortmannin) or MAPK pathways with PD 98059 or UO 126 (selective for MAPK kinse 1 and 2) prevented the steroid-induced translocation of Ser-P-ANXA1 to the cell surface.

translocation


Input: cIAP-2 is an important regulator of apoptosis in bladder cancer and its overexpression may make tumours less susceptible to therapy involving apoptosis.

bladder cancer

bladder cancer


Input: The present study investigated the possible relationships between the genotypes of COMT Val158Met and MAOA-uVNTR polymorphisms and personality traits measured by the Temperament and Character Inventory (TCI).

COMT

personality traits


Input: The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ.

psychosis

psychosis


Input: We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

psychosis

psychosis


Input: Indeed, NONO-deficient mice exhibit impaired glucose tolerance and lower hepatic glycogen and lipids.

NONO

impaired glucose tolerance

NONO

impaired glucose tolerance


Input: Early small-molecule FASN inhibitors such as cerulenin, C75 and orlistat have been shown to induce apoptosis in several cancer cell lines and to induce tumor growth delay in several cancer xenograft models but their mechanism is still not well understood.

FASN

tumor

FASN

tumor


Input: Expression of selenium-binding protein 1 characterizes intestinal cell maturation and predicts survival for patients with colorectal cancer.

selenium-binding protein 1

colorectal cancer

selenium-binding protein 1

colorectal cancer


Input: To further understand the molecular basis of Wnt signaling pathway and E-cadherin in brain tumorigenesis, the expression of four Wnt genes (Wnt1, Wnt5a, Wnt10b and Wnt13) and E-cadherin were analyzed by reverse transcriptase-polymerase chain reaction.

tumorigenesis


Input: Finally, we determined the Bcl-xl and phosphorylated c-Met expression levels in mesothelioma patient samples; these data suggest a strong correlation between Bcl-xl and phosphorylated c-Met levels.

Bcl-xl

mesothelioma


Input: We suggest that MAO-A-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced myopathy and a potential target for therapeutic intervention.

MAO-A

myopathy

MAO-A

myopathy


Input: Up to date, nucleotide substitutions, insertions, small deletions, one de novo translocation, and one 240 kb deletion of the coding region of the PAX2 gene have been described to be responsible for RCS.

RCS

translocation


Input: A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).


Input: Supporting the notion of akna as a CC susceptibility gene, we found two polymorphisms associated with squamous intraepithelial lesion (SIL) and CC; moreover, we identified an association between high akna expression levels and CC and SIL, but its direction differs in each disease stage.

akna

squamous intraepithelial lesion


Input: Inhibition of FGF receptor-1 (FGFR1) signaling by infusion of a sulfonic acid polymer or infection with a dominant-negative FGFR1 adenovirus inhibited Rap2 upregulation and collateral vessel growth.

adenovirus


Input: Interleukin (IL)-17A and IL-17F are inflammatory cytokines, which play a critical function in inflammation.

inflammation


Input: Exogenous VEGF and, to a lesser extent, exogenous prostaglandins partly reversed the NSAIDs inhibition of hypoxia-induced angiogenesis.

VEGF

hypoxia


Input: Broncho Alveolar Lavage fluid, lung parenchyma, heart and brain were screened for markers of inflammation (cell counts, cytokines, ET-1, HO-1, MPO, iNOS), cytotoxicity (LDH, ALP, Hsp70, Caspase8-p18, Caspase3-p17) for a putative pro-carcinogenic marker (Cyp1B1) and for TLR4 pathway activation.

inflammation


Input: FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients.

sporadic


Input: Our results confirm an association between loss of MMR protein expression, presence of activating BRAF mutation, expanding growth, and PTL reaction as well as between tumor budding, infiltrative growth pattern, and tumor aggressiveness; however, there was no such association between the presence of an activating KRAS or BRAF mutation and a distinct invasion pattern or tumor aggressiveness in CRC.

PTL

aggressiveness


Input: Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation.

translocation


Input: We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families.

PJS

PJS


Input: The sonic hedgehog-induced type 3 deiodinase facilitates tumorigenesis of basal cell carcinoma by reducing Gli2 inactivation.

tumorigenesis


Input: Our study suggests that inhibition of HMGN5 may be a potential strategy for improving effectiveness of ESCC treatment.

ESCC

ESCC


Input: Silencing of MYCL1 in SCLC cell lines that had the RLF-MYCL1 fusion decreased cell proliferation.

SCLC

SCLC


Input: In the present study, we investigated the effects of 14-3-3β inhibition in human glioma U87 cells using specific targeted small interfering RNA (siRNA).

glioma


Input: Prodynorphin and kappa opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders.

Prodynorphin

affective disorders

Prodynorphin

affective disorders


Input: One case with IGH @translocation showed a BCL2 translocation partner.

translocation


Input: These data suggest that mutated SMAD4 proteins undergo rapid degradation in acute myelogenous leukemia cells via SCF (beta-TrCP1) E3 ligase-mediated protein ubiquitination (or ubiquitylation) and subsequent proteasomal degradation.

acute myelogenous leukemia


Input: All the hints suggest that GSN is a novel candidate gene in occurrence of schizophrenia.

GSN

schizophrenia

GSN

schizophrenia


Input: HRG-alpha and HRG-beta mRNA levels were significantly higher in gastric ulcer tissue than in normal gastric mucosa.

HRG

gastric ulcer


Input: Both of these nuclear factor kappa B (NF-κB)-activated, 22 nucleotide small non-coding RNAs (sncRNAs) target the mRNA of the key, innate-immune-and inflammation-related regulatory protein, complement factor-H (CFH; chr 1q32), resulting in significant decreases in CFH expression (p < 0. 01, ANOVA).

CFH

inflammation


Input: The importance of UCHL1 in hepatic fibrosis was investigated in CCl4 and bile duct ligation injured mice using a pharmacological inhibitor (LDN 57444).

hepatic fibrosis


Input: Functional annotation linked most of the pro-metastatic genes to epithelial mesenchymal transition (EMT) process and three intertwining EMT-driving pathways (hypoxia, TGFB and Wnt), whereas most of the anti-metastatic genes to interferon signaling pathway.

TGFB

hypoxia


Input: To study the role of NaV1. 8 mRNA in the pathogenesis of SNE-induced painful neuropathy, NaV1. 8 shRNA vector was delivered by subcutaneous injection of cationized gelatin/plasmid DNA polyplex into the rat hindpaw and its subsequent retrograde transport via sciatic nerve to DRG.

NaV1. 8

neuropathy


Input: The increased expression of N-myc downstream regulated gene-1 was detected only in poorly differentiated colon cancer cells, Colo-320 cell line.

N-myc

colon cancer


Input: Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI.

NBCIE

NBCIE


Input: The four GPI-anchored cell adhesion molecules that exemplify the IgLON family are most highly expressed in the nervous system and associate to form up to six different heterodimeric' Diglons' that can modify cell adhesion and inhibit axon migration.

GPI

nervous system


Input: Following DNA microarray, Northern blot and quantitative real-time PCR were employed to confirm FGFR3 expression difference in HCC tissues and surrounding non-neoplastic liver tissue.

HCC

non-neoplastic


Input: After induction by TAMs or hypoxia, the vasohibin-1 and vasohibin-2 expressions correlated with that of VEGF-A.

VEGF-A

hypoxia


Input: We found that expression of FAP-associated TTR V30M mutant in the nervous system resulted in reduced lifespan and in reduced climbing ability indicating neurological impairment, whereas expression of TTR wt showed a milder phenotype.

TTR

nervous system


Input: New alleles at exon 16 were detected in three (14%) of 22 RER + tumours; no new alleles were detected in RER-or ulcerative colitis associated cancers.

RER

ulcerative colitis


Input: SIRT1 acts as a modulator of neointima formation following vascular injury in mice.

neointima formation


Input: Thus, these data clearly show that LRP is the major cell-surface receptor responsible for t-PA. PAI-1 complex binding and endocytosis on human hepatoma HepG2 cells and extend the multifunctional nature of LRP as an endocytosis receptor for several structurally and functionally distinct ligands.

LRP

hepatoma


Input: To compare the sensitivity and specificity of 4 methods of breast cancer surveillance (mammography, ultrasound, MRI, and CBE) in women with hereditary susceptibility to breast cancer due to a BRCA1 or BRCA2 mutation.

MRI

breast cancer


Input: We propose the existence of SOX2-expressing ovarian CSCs as a mechanism of tumor aggressiveness and therapy resistance in human SOC.

aggressiveness


Input: Genetic deficiency of CACT in humans is accompanied by a constellation of metabolic and toxicity phenotypes including hypoketonemia, hypoglycemia, hyperammonemia, and impaired neurologic, cardiac and skeletal muscle performance, each of which is apparent in mice lacking SRC-3 expression.

hyperammonemia


Input: An increased ratio of KLF6SV1/wt KLF6 is present in a subset (6/33, 18%) of the HBV-related HCCs compared to matched ST. Reconstituting KLF6 in HepG2 cells by retroviral infection decreased proliferation and related markers including cyclin D1 and beta-catenin, increased cellular differentiation based on induction of albumin, E-cadherin, and decreased alpha fetoprotein.

cyclin D1

retroviral infection


Input: We found that GPNMB expression, which is regulated by MiTF, was greatly elevated in renal cancer cells harboring either TFE3 translocations or FLCN inactivation.

GPNMB

renal cancer


Input: In parallel, genes involved in tissue remodeling and inflammation eg, CTGF, VCAM-1, IL-1beta, MMP7, and VEGF were up-regulated.

CTGF

inflammation


Input: These results suggest that phosphorylation and functional suppression of TRPC6 underlie prevention of pathological hypertrophy by PDE5 inhibition.

hypertrophy

hypertrophy


Input: We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known.

metaphyseal anadysplasia

metaphyseal anadysplasia


Input: The expression of DNMT1 protein has been detected in 61 out of 100 (61%) esophageal squamous carcinoma cases, including 41 cases in the above 45 methylated samples of RASSF1A gene promoter, and none in adjacent tissues.

esophageal


Input: If arsenite produces exencephaly by inactivating the Pax3 protein, then the fact that the exencephaly rate was increased in Sp/Sp embryos with no functional Pax3 indicates that arsenite may either induce this defect through additional pathways, or may alter the response via modifier genes.

exencephaly

exencephaly


Input: In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia.

substance P

amnesia

substance P

amnesia


Input: A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.

TGF-beta

chondrodysplasia


Input: We show that an identical missense mutation within exon 5, resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed.

LPL

LPL deficiency

LPL

LPL deficiency


Input: Here we have identified truncating mutations in TARBP2 (TAR RNA-binding protein 2), encoding an integral component of a DICER1-containing complex, in sporadic and hereditary carcinomas with microsatellite instability.

TAR RNA-binding protein 2

sporadic


Input: Patients without MFRP gene function exhibit no correction of refractive error during childhood, which suggests that this gene is essential for emmetropization, a complex process by which vision regulates axial growth of the eye.

MFRP gene

refractive error


Input: Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abnormalities.


Input: In this article, we describe fluorescence in situ hybridization (FISH) results on detection of MYCN amplification in formalin-fixed, paraffin-embedded samples of 25 neuroblastoma and 20 nonneuroblastoma pediatric tumors.

FISH

neuroblastoma


Input: These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema.

congenital lymphedema

congenital lymphedema


Input: To investigate the role of the HS1, 2 enhancer polymorphisms as a new candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.

rheumatoid arthritis


Input: Frequently overexpressed genes (tumor/normal ratio > 2) were COL1A1 (percentage of cases with overexpression, 78. 3%), CDH17 (73. 9%), APOC1 (67. 4%), COL1A2 (58. 7%), YF13H12 (52. 2%), CEACAM6 (50. 0%), APOE (50. 0%), REGIV (47. 8%), S100A11 (41. 3%), and FUS (41. 3%).

tumor


Input: Unexpectedly, ZP-PTH also produced an early increase in hip bone mineral density, an effect not observed with the injection.

PTH

bone mineral density


Input: Here, we investigated the association between AD and HMGCR rs3846662, a polymorphism known to be involved in the regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mixed North American populations of converting mild cognitively impaired (MCI) subjects (Alzheimer' s disease Cooperative study (ADCS) and Alzheimer' s disease Neuroimaging Initiative (ADNI) cohorts).

HMGCR

mild


Input: The systemic administration of UK1 purified from pichia expression (10 and 50 mg/kg/day intraperitoneally for 25 days) led to suppress the growth of a U87 human glioma xenograft, implanted into the brains of male BALB/cSlc nude mice, by 35% and 80%, respectively.

glioma


Input: In cell mixing experiments, mixing of MMP-poor cell lines transfected with GALV M40 constructs with the MMP overexpressing untransfected U87 glioma cells led to partial restoration of fusion.

glioma


Input: In an effort to develop a new therapy for prostate cancer (PCa) bone metastases, we have created Ad. dcn, a recombinant oncolytic adenovirus carrying the human decorin gene.

decorin gene

adenovirus


Input: Analysis of the GFAP gene revealed a heterozygous missense mutation, c. 827G & gt; T, p. R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX.

GFAP

ALX

GFAP

ALX


Input: Together, our results suggest that therapies using cannabinoid receptor ligands will have efficiency in reducing tumor burden in malignant lymphoma overexpressing CB1 and CB2.

malignant lymphoma


Input: A differential diagnosis with other conditions can be made on the basis of marked autofluorescence changes in combination with an absent light rise on the EOG that outweighs the full-field ERG abnormalities, which point to the BEST1-related hereditary nature of the disease.

abnormalities


Input: Individuals with a history of gangrenous appendicitis demonstrated ability to increased IL-10 and IFN-gamma production.

appendicitis

appendicitis


Input: A role for c-Myc in the hypoxic induction of VEGF was demonstrated by site-directed mutagenesis of the VEGF promoter and silencing of c-Myc by small interfering RNA.

VEGF

hypoxic


Input: PIB VR typing avoids limited monoclonal antibody availability, interlaboratory variation, and the requirement for culture-based surveillance associated with gonococcal serotyping, and provides useful information about the molecular epidemiology of individual por gene VRs.

por gene

gonococcal


Input: APP administration dampened the mRNA expression of IL-1β, TNF-α, IL-6, IL-17, IL-22, CXCL9, CXCL10, CXCL11, and IFN-γ in the colons of mice with colitis.

colitis


Input: To study whether abnormal secretion of islet amyloid polypeptide is involved in the development of insulin resistance and impaired insulin secretion in Type 2 (non-insulin-dependent) diabetes mellitus, we measured islet amyloid polypeptide concentrations in 56 first-degree relatives of Type 2 diabetic subjects and in 10 healthy control subjects.

islet amyloid polypeptide

insulin resistance


Input: These behavioural and neurochemical abnormalities in NK1R-/-mice, together with their atypical response to psychostimulants, echo attention deficit hyperactivity disorder (ADHD) in humans.

abnormalities


Input: Because DPM1 deficiency, like other subtypes of CDG-I, impairs the assembly of N-glycans, this novel glycosylation defect was named CDG-Ie.

CDG-Ie

CDG-Ie


Input: Expression of bax gene appears to distinguish adrenal cancer from benign adrenal tumors.

bax gene

adrenal cancer


Input: Our objective was to determine whether gems and/or nuclear FUS levels in skin derived fibroblasts from sporadic ALS patients are consistently reduced and thus could constitute a novel and readily available biomarker of the disease.

FUS

sporadic


Input: Removal of BAX expression by homologous recombination reduces apoptosis in vitro and in vivo but allows a lower level of cell death via a predominantly necrotic mechanism.

BAX

necrotic


Input: Chronic liver diseases with concurrent HCC showed higher methylation frequencies of the tested genes, and a higher number of methylated genes than those without concurrent HCC.

HCC

liver diseases


Input: The PPI group had a significantly increased PGE (2) and decreased LTB (4) levels in comparison to the H (2) blocker group during the ulcer-healing stage.

LTB

ulcer


Input: Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS).

TLS

sporadic


Input: Four single nucleotide polymorphisms (SNPs) in the BMP2 gene, 2 SNPs in BMP4, and 16 SNPs in BMP7 were tested for association with measures of VC using CT (coronary and carotid arteries, abdominal aorta), and BMD was measured using DXA (lumbar spine, hip, and distal radius) and quantitative CT (QCT; thoracic and lumbar spine) in 920 European Americans from 374 Diabetes Heart Study families: 762 with type 2 diabetes.

BMP2 gene

thoracic


Input: A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

osteoporosis-pseudoglioma syndrome

osteoporosis-pseudoglioma syndrome


Input: The sera from 59 out of 111 (53%) Japanese alopecia patients were positive for anti-nuclear antibody (ANA), as compared to the sera of 16 out of 105 (15%) healthy controls (p < 0. 001).

ANA

alopecia


Input: A mouse model of the human 5q-syndrome has been generated by large-scale deletion of the Cd74-Nid67 interval (containing Rps14) and the crossing of these' 5q-mice' with p53-deficient mice ameliorated the erythroid progenitor defect.


Input: X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show < 2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported.

BTK

recurrent infections


Input: CRCs in which the DNA MMR function was deficient as evidenced by high level microsatellite instability and/or loss of expression of MMR gene product by immunostaining were excluded.

MMR

microsatellite instability


Input: In a separate group of six mild atopic asthmatics, there was an increased proportion of BAL cells positive for IL-10 mRNA 24 h after allergen inhalation challenge compared with diluent challenge BAL from the same subjects (24% versus 10%; P < 0. 005).

mild


Input: The " top hit " was an interaction between maternal ENPP1 rs1044498 and fetal SLC2A2 rs6785233 (interaction OR = 3. 65, 95% CI: 2. 32-5. 74, p = 2. 09 × 10 (-8), q = 0. 001), which was confirmed in step 2 (p = 0. 00004).

hit


Input: The peritoneal fluid CCL22 concentrations were significantly higher in epithelial ovarian cancer (EOC) patients than in patients with benign tumors-serous cystadenoma (n = 32).

serous cystadenoma


Input: Taken together, the low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.

RET

HSCR

RET

HSCR


Input: These observations are the first to show changes in the dynamics of CART and nesfatin/NUCB2 expressions in the midbrain of drug-free depressed suicide victims vs. controls.

suicide


Input: Echocardiography was used for evaluation of left ventricular mass and mass index and polymerase chain reaction-for identification of alleles and genotypes of polymorphic markers of ACE, NOS3, PPARA, PPARG2 genes.

ACE

left ventricular mass


Input: Moreover, a recent human study unravelled gene × environment interactions between TCF4 risk alleles and smoking behaviour that were specifically associated with disrupted early information processing.

smoking


Input: To determine the effectiveness of adrenocorticotropic hormone (ACTH) for acute gouty arthritis and pseudogout in a population of patients with multiple coexisting medical problems.

adrenocorticotropic hormone

gouty arthritis

adrenocorticotropic hormone

gouty arthritis


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: In conclusion, mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic LVNC and DCM.

1p36 deletion syndrome

1p36 deletion syndrome


Input: Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1).

superoxide dismutase 2

optic atrophy 1


Input: The identification of antigenic regions and corresponding seroreactivity in asymptomatic and persistently B19-infected patients is important for the understanding of B19-pathogenesis and for the development of B19 vaccine candidates.

asymptomatic


Input: The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system.

transmembrane glycoprotein

nervous system


Input: Moreover, we considered TN and non TN (NTN), 21 BRCA-related and 27 sporadic BCs.

NTN

sporadic


Input: An impaired MMR function during replication introduces infidelity in DNA sequence and leads to ubiquitous mutations at simple repetitive sequences (microsatellites), causing microsatellite instability (MSI).

MMR

microsatellite instability


Input: In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

ARP

parkinsonism


Input: We have elucidated the role of maspin RCL on adhesion, migration, and invasion by transfecting the highly invasive human breast carcinoma MDA-MB-231 cell line with pcDNA3. 1-His/FLAG containing wild-type maspin, ovalbumin, or maspin/ovalbumin RCL chimeric mutants in which maspin RCL is replaced by ovalbumin (MOM) and vice versa (OMO).

RCL

adhesion


Input: Human pre-B acute lymphocytic leukemia (ALL) cell line 697 contains a disease-specific chromosomal translocation, t (1; 19), near the insulin receptor locus (INSR).

INSR

chromosomal translocation


Input: This finding demonstrates that a SMARCB1 mutation may be the initial " hit " (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors.

SWI

schwannomas


Input: Surfactant protein B is important in the intracellular processing and production of surfactant protein C. Although surfactant protein C-deficient mice are viable and survive to adulthood without obvious pulmonary abnormalities, their lung have reduced viscoelasticty.

Surfactant protein B

abnormalities


Input: No association was found between promoter methylation of DAPK and Helicobacter pylori infection, whereas a close association was observed with the presence of gastric atrophy and DAPK promoter methylation (P = 0. 015).

DAPK

gastric atrophy


Input: E-cadherin and P-cadherin expression increased in polyps, whereas a significant decrease in their expression was observed in CCA (p < 0. 001) while E-cadherin expression significantly increased in CCA compared to NM (p < 0. 001), no such difference was observed in P-cadherin expression.

P-cadherin

polyps


Input: We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg (140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.


Input: Together, our results support the critical potential of MBD3 in HDI-induced cancer-selective cell death via cancer differential gene expression.

cancer


Input: Being a non-smoker was significantly associated with the prevalence of epidermal growth factor receptor mutations, but the prevalence of KRAS mutations was significantly associated with smoking.

epidermal growth factor receptor

smoking


Input: PTHrP mRNA detection correlated positively with LC stage, presence of bone metastasis, and squamous cell carcinoma, and LUNX mRNA detection correlated with lymph node involvement.

LUNX

bone metastasis


Input: Methylation of the MLH1 gene promoter region is an underlying cause of colorectal cancer (CRC) with high microsatellite instability (MSI-H) diagnosed in persons without a germ line mutation in a mismatch repair (MMR) gene (non-Lynch Syndrome CRC).

MMR

microsatellite instability


Input: PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

congenital ichthyosis

congenital ichthyosis


Input: In addition to ruling out abnormalities of the V (D) J recombinase in AT, BS, and DNA ligase I mutant cells, these studies suggest that DNA ligase I is unlikely to be required for signal or coding end joining in the V (D) J recombination reaction.

DNA ligase I

abnormalities


Input: The null GSTT1 genotype was found to be associated with increased risk of cerebral stroke after Bonferroni correction and adjusting for confounding variables such as gender, blood pressure, body mass index, and antihypertensive medication use (odds ratio 1. 51 95% CI 1. 09-2. 07, P = 0. 01).

body mass index


Input: Among different functions assigned to NGFR, it is also involved in apoptosis induction and tumorigenesis processes.

NGFR

tumorigenesis


Input: We initiated EPO at the onset of therapy to maintain the hemoglobin between 12 and 15 g/dL.

EPO

hemoglobin


Input: On the contrary, only silent mutations in sporadic cancers correlate with SF2/ASF motifs in p53.

sporadic


Input: Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.

HNPCC

Muir-Torre syndrome

HNPCC

Muir-Torre syndrome


Input: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

nephronophthisis-like nephropathy

nephronophthisis-like nephropathy


Input: The methylation-specific polymerase chain reaction (MSP) with primers for methylated (M-MSP) and unmethylated (U-MSP) alleles of the p21, p27, and p57 genes was used to study five leukemic cell lines, 50 acute myeloid leukemia (AML) samples, and 25 acute lymphoblastic leukemia (ALL) samples.

MSP

acute lymphoblastic leukemia


Input: In this study, we performed a meta-analysis to clarify the association of FTO gene polymorphisms with overweight/obesity risk among children and adolescents.

FTO gene

overweight


Input: The aim of this study was to identify metabolic changes associated with cell growth during hyperplasia and HCC.

HCC

hyperplasia


Input: Hereditary and sporadic CRC with MMR defect can be detectable by microsatellite instability (MSI) test or immunohistochemical analysis among general CRCs.

MMR

microsatellite instability


Input: A large number of cells within the specimens of proliferative hemangiomas revealed localized gene expression of basic fibroblast growth factor and vascular endothelial growth factor messenger RNA (626 +/-129 and 1660 +/-371 cells/mm2, respectively).

hemangiomas


Input: In this study, the ETV6-RUNX1 translocation was sequenced by next-generation sequencing (NGS) in 26 patients with ETV6-RUNX1-positive ALL and re-sequenced by using the Sanger method.

translocation


Input: Gene copy number gain of CCND1, TRAF4, CDC6 and MTDH was seen in > 40% of the male breast cancer cases, with also frequent amplification.

MTDH

male breast cancer


Input: Twenty-three patients with ALMS (age, 1-52 years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS) of height, weight, BMI), GH secretion by growth hormone-releasing hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI).

MRI

height


Input: One MLH1 SNP, rs1800734, located in the MLH1 CpG island at-93 from the translation start site, was significantly associated with MLH1 methylation as were age at diagnosis and patient body mass index.

body mass index


Input: The apelin/APJ system may be involved in retinal neovascularization during the development of proliferative diabetic retinopathy.

APJ

retinal neovascularization


Input: To investigate the therapeutic potential of decorin for keloids, human dermal fibroblasts (HDFs) and keloid-derived fibroblasts (KFs) were transduced with decorin-expressing adenovirus (dE1-RGD/GFP/DCN), and we examined the therapeutic potential of decorin-expressing Ad for treating pathologic skin fibrosis.

DCN

adenovirus


Input: In addition, we demonstrate for the first time that rHuEpo reduces considerably hippocampal neurodegeneration following SE. rHuEpo may thus supplement astroglial induction of Epo to promote enhanced hippocampal neuronal survival following SE.

Epo

SE

Epo

SE


Input: Furthermore, increased expression of cPLA (2) alpha, assessed by anti-phospho-cPLA2alpha antibody, was observed in the skin lesions of mite-antigen-induced dermatitis.

cPLA (2) alpha

dermatitis

cPLA (2) alpha

dermatitis


Input: VEGFC and VEGFR1 mRNA overexpression is of prognostic value, dependent on HER2 status, in patients with high-risk early breast cancer undergoing adjuvant treatment.

VEGFC

breast cancer

VEGFC

breast cancer


Input: As the pattern of expression of bcl-2 in hematopoietic cells is still unclear, we have measured the level of the corresponding messenger RNA (mRNA) in a variety of myeloid and lymphoid cell malignancies not usually associated with the t (14; 18) translocation.

translocation


Input: Most t (14; 18) translocation breakpoints cluster within a narrow region of a 5. 4 kb exon that contains a long 3'-untranslated region of the bcl-2 mRNA.

translocation


Input: The activity of nuclear factor-kappaB (NF-kappaB), a nuclear transcription factor, influences both critical tumor promotion and host-tumor interactions.

NF-kappaB

tumor promotion


Input: Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.

hereditary persistence of fetal hemoglobin

hereditary persistence of fetal hemoglobin


Input: No patient had 2 attacks of aplasia and no patient nor control had 2 attacks of B19 infection.

aplasia


Input: We show that physiology in mice transgenic for genomic segments harboring wild-type (TgWnk4 (WT)) or PHAII mutant (TgWnk4 (PHAII)) Wnk4 is changed in opposite directions: TgWnk4 (PHAII) mice have higher blood pressure, hyperkalemia, hypercalciuria and marked hyperplasia of the distal convoluted tubule (DCT), whereas the opposite is true in TgWnk4 (WT) mice.

DCT

hyperplasia


Input: Treatment of the cells with PPARα agonists, but not a PPARγ agonist, prior to hypoxia diminished hypoxia-induced HIF-1α expression and activity, and addition of a PPARα antagonist attenuated the suppression of HIF-1α signaling.

PPARγ

hypoxia


Input: In both human U87MG glioma cells and human umbilical vein EC, SEMA3F induced rapid cytoskeletal collapse, suppressed cell contractility, decreased phosphorylation of cofilin, and inhibited cell migration in culture.

glioma


Input: Association of toll-interacting protein gene polymorphisms with atopic dermatitis.

toll-interacting protein

atopic dermatitis


Input: Taken together, our data suggest a central role of p53, through which it can inhibit VPF/VEGF expression by regulating the transcriptional activity of Sp1 and also by down-regulating the Src kinase activity, under both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: Colonization rates of H. pylori, degree of gastric inflammation and other pathological changes including atrophic gastritis and metaplasia, serum levels and mRNA transcripts of various mouse cytokines and chemokines, and NF-kappaB binding activities, and finally the presence of gastric adenocarcinoma were compared between H. pylori infected group (HP), and H. pylori infected group administered with long-term rebamipide containing pellet diets (HPR) or nimesulide mixed pellets (HPN).

HPR

atrophic gastritis


Input: We performed methylation specific PCR on DNA isolated from primary tumors, metastatic lymph nodes, and negative lymph nodes from twenty vulvar cancer patients using the following genes: P16INK4a, MGMT, TWIST1, CADM1, TERT, and TFPI2.

vulvar cancer


Input: Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.

blast phase


Input: We previously conducted a proteomic analysis to investigate tumor-specific protein expression in gastric cancer, and PPase was identified as a potential gastric tumor-specific marker; it was therefore selected for further study.

PPase

gastric tumor


Input: The aim of this study was to compare 11beta-HSD1 mRNA expression and CYP2D6 metabolizer status in pharyngeal tissues of patients with oropharyngeal carcinoma and controls.

oropharyngeal carcinoma


Input: Small hidden interstitial insertions resulting in an AML1/ETO rearrangement were detected in five (8. 5%) of the 59 patients, whereas the sixth patient showed a cryptic three-way translocation.

translocation


Input: There were no differences in alphav, beta1 and beta3 levels among the three melanoma lines, and PCR products for alphaIIb, alpha2, CD36, or ICAM-2 were not detected.

melanoma


Input: Zinc induces expression of the BH3-only protein PUMA through p53 and ERK pathways in SH-SY5Y neuroblastoma cells.

BH3-only protein

neuroblastoma


Input: Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.

MCI

schizophrenia


Input: We treated female rats subjected to renal hypertension, increased hemodynamic stress, and estrogen deficiency for 3 months with the mineralocorticoid receptor blocker eplerenone (30 or 100 mg/kg per day) or vehicle (vehicle control).

mineralocorticoid receptor

renal hypertension


Input: Moreover, the effects of YXM110 were associated with several characteristics of autophagy, including accumulation of autophagic vacuoles, elevation of Atg12-Atg5 and light chain 3 (LC3)-II, and levels of GFP-LC3 puncta.

autophagic vacuoles


Input: Except for the patients with Burkitt' s-like translocation, none of the patients harboring 8q abnormalities, including balanced translocations or duplications of MYCC band, identified both by G-banding and SKY, showed differential expression levels of MYCC.

SKY

translocation


Input: It is well established that the hypoxic induction of VPF/VEGF is in large part an increase in the stability of its mRNA.

VEGF

hypoxic


Input: The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP.

CDSP

CDSP


Input: Initial studies have reported strong associations of variants in the plant homeodomain zinc finger protein 11 (PHF11) gene with serum IgE levels, asthma, airway hyper-responsiveness and childhood atopic dermatitis.

airway hyper-responsiveness


Input: Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism.

serotonin transporter

overgrowth


Input: Two melanoma cells A2058 or DM6 were tested for their sensitivity to agonistic anti-Fas antibody (CH-11); adenovirus expressing FKHRL1/TM (Ad-FKHRL1/TM) was assessed for its capability to induce activation of the caspase pathway; the role of Fas-L in the Ad-FKHRL1/TM mediated-cell death was also assessed in vitro.

adenovirus


Input: Using isolation by size of epithelial tumor cells (ISET) filtration and filter-adapted-fluorescence in situ hybridization (FA-FISH), ROS1 rearrangement was examined in CTCs from four ROS1-rearranged patients treated with the ROS1-inhibitor, crizotinib, and four ROS1-negative patients.

FISH

epithelial tumor


Input: Pre-B cell colony enhancing factor induces Nampt-dependent translocation of the insulin receptor out of lipid microdomains in A549 lung epithelial cells.

insulin receptor

translocation


Input: Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.

ATRX

cryptorchidism

ATRX

cryptorchidism


Input: We demonstrate that abrogation of p53 function drives the early transcriptome changes responsible for cell proliferation, EMT and survival, while further transcriptome changes that occur during in vivo tumor progression are mechanistically linked to the development of CIN leading to a more invasive and metastatic breast cancer phenotype.

EMT

tumor progression


Input: Stable expression of ERG and Tmprss2: ERG variants promoted cell migration/invasion, induced a block of proliferation and induced a senescence-like state, suggesting a role for these variants in the prostate tumorigenesis process.

tumorigenesis


Input: The mechanisms underlying this abnormal glycosylation are not well understood, but reduced expression of the enzyme core 1, β1, 3-galactosyltransferase 1 (C1GALT1) may contribute.

abnormal glycosylation


Input: We also show that the p. Gly114Arg variant has a strong inhibitory effect on splicing in HeLa cells, evidence that homozygozity for p. Gly114Arg causes acephalic spermatozoa syndrome through loss of SUN5 function.

acephalic spermatozoa syndrome

acephalic spermatozoa syndrome


Input: Thus, in renal cancer cell lines expressing HIF-2alpha, this protein plays a role in regulating the levels of the TRAIL receptor DR5.

renal cancer


Input: Taken together, our results demonstrate for the first time that LPS up-regulates ICAM-1 expression in breast cancer cells via a MyD88-BLT2-ERK-linked signaling cascade, leading to the increased adhesion of breast cancer cells to monocytes.

adhesion


Input: Moreover, our data also show that the intracellular increase of TRIP-Br1 protein resulting from serum starvation seems to occur in part through the blockage of PI3K/AKT signaling pathway.

starvation


Input: PGRN is located 1. 7 Mb centromeric of MAPT on chromosome 17q21. 31 and encodes a 68. 5-kDa secreted growth factor involved in the regulation of multiple processes including development, wound repair and inflammation.

MAPT

inflammation


Input: Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

facioscapulohumeral muscular dystrophy

facioscapulohumeral muscular dystrophy


Input: These results confirm and extend our previous observation that the OCRL phenotype results from loss of function of the ocrl1 protein and that mutations are generally heterogeneous.

OCRL

OCRL


Input: Moreover, similar results were observed in HaCaT cells infected with adenovirus-based small interfering RNAs targeting Gab1 and/or Gab2.

adenovirus


Input: Involvement of RhoA and RalB in geranylgeranyltransferase I inhibitor-mediated inhibition of proliferation and migration of human oral squamous cell carcinoma cells.

RalB

squamous cell carcinoma


Input: These functional observations were strengthened by genetic evidence: somatic loss-of-function mutations in PPARG, encoding PPARgamma, in sporadic colorectal carcinomas and somatic translocation of PAX8 and PPARG in follicular thyroid carcinoma.

sporadic


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: The discs L2/L3-L5/S1 were evaluated on MRI, using decreased signal intensity of the nucleus pulposus, posterior disc bulges, and decreased disc height as signs of disc degeneration.

MRI

height


Input: Herein, we further explore the expression of the cancer-testis antigens MAGEA1, ACRBP, PRAME, and SSX2 in myxoid and round-cell liposarcoma by immunohistochemistry in addition to determining mRNA levels of CTAG2 (LAGE-1), PRAME, and MAGEA3 by quantitative real-time PCR.

liposarcoma


Input: Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.

microsatellite instability


Input: Fluorescence in situ hybridization (FISH) and molecular studies localized the breakpoints on Xp22. 3 in the immediate vicinity of the KAL gene demonstrating deletions of steroid sulfatase (STS), arylsulfatase E (ARSE), and short stature homeo box (SHOX) genes.

FISH

short stature


Input: Pre-treatment of glioblastoma cell lines with GDNF but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1, 3-bis (2-chloroethyl)-1-nitrosourea (BCNU).

GDNF

glioblastoma

GDNF

glioblastoma


Input: To better understand their functional roles during inflammation we have here studied the in vivo expression of receptors for the chemokines CCL3/CCL5/CCL7 (MIP-1alpha/RANTES/MCP-3) and CX3CL1 (fractalkine), CCR1 and CX3CR1, respectively, in rat myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis.

myelin oligodendrocyte glycoprotein

inflammation


Input: Mature CD22 + and CD3 + lymphocytes did not have the chromosomal aberrations.

chromosomal aberrations


Input: The abnormal pregnancy hydatidiform mole (HM) can be classified as complete (CHM) or partial (PHM) on the basis of both morphology and genetic origin.

PHM

hydatidiform mole


Input: To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH (4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).

PAH

PAH deficiency

PAH

PAH deficiency


Input: Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola disease, which is characterized by bone abnormalities and dementia.

abnormalities


Input: EPLIN-α expression in human oesophageal cancer and its impact on cellular aggressiveness and clinical outcome.

EPLIN

aggressiveness


Input: The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred.

PLP

PMD

PLP

PMD


Input: The testicular tumors, seminomas and embryonal carcinomas, also expressed TGFB4 (ebaf) mRNA.

ebaf

testicular tumors


Input: An in vitro mimic of inflammation decreased the expression of NM23-H2 in SMCs, which was restored on addition of estrogen and dependent on the estrogen receptor.

inflammation


Input: To determine whether polymorphisms in the 3' untranslated region (UTR) of the NRAMP1 gene are associated with susceptibility to tuberculosis in Koreans.

UTR

susceptibility to tuberculosis


Input: Seroprevalence to HERV-K10 Env or Gag was 17 of 27 testicular cancer patients (63%) around the time of diagnosis, compared to 4 of 77 controls (5%; P < 0. 0001).

testicular cancer


Input: An understanding of the mechanisms of white matter oedema in MLC is emerging.

MLC

oedema


Input: The consequence of the translocation is fusion of the helix-loop-helix domain of TEL, an ETS-like putative transcription factor, to the DNA-binding and transactivation domains of the transcription factor AML1.

translocation


Input: Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia.

vascular endothelial growth factor

dyschondroplasia

vascular endothelial growth factor

dyschondroplasia


Input: In lipoma, twenty-two cases (22. 4%) were associated with either HMGA2-LPP or LPP-HMGA2, while neither TLS-CHOP nor EWS-CHOP transcript was detectable.

EWS

lipoma


Input: Sonographic, CCT or MRI yielded the following results: 4 of the patients had a cavum septum pellucidum, 3 patients had hypoplasia of the cerebellum, 1 aplasia of the corpus callosum and 1 aplasia of the fornix.

MRI

aplasia


Input: The IGH translocation partner could be identified in four cHL and involved BCL2 and BCL3 in two cases each.

translocation


Input: Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.

mild


Input: Moreover, in an in vitro study, ACE2 activation prevented the hypoxia-induced cell death and upregulation of HMGB1 in adult cardiomyocytes.

hypoxia


Input: These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals.

NFNS

NFNS


Input: The efficacy of adeno-associated virus carrying HGFK1 (AAV-HGFK1) in osteolytic bone metastasis was then evaluated using an in vivo bone metastasis model.

AAV

bone metastasis


Input: A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease.

Darier disease

Darier disease


Input: Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.

pituitary hormone deficiency


Input: Our data suggest that polymorphisms in APH-1a/b coding regions are not linked with higher risk for sporadic AD in our Italian population sample.

sporadic


Input: Heterozygosity for a null GHRHR mutation is not associated with reduction in adult stature or in serum IGF-I but is associated with changes in body composition and possibly an increase in insulin sensitivity.

GHRHR

insulin sensitivity


Input: AIM: To determine the association of functional single nucleotide polymorphisms in genes of the pro-inflammatory cytokines tumour necrosis factor-α, interleukin-1β, interleukin-8 and interleukin-12B with the development of two clinical forms of apical periodontitis (AP): acute suppurative and chronic nonsuppurative.

AIM

apical periodontitis


Input: Baseline airway inflammation of intrinsic and extrinsic asthma is characterized by eosinophilic inflammation and the Th1 cytokine, IFN-gamma.

extrinsic asthma


Input: The involvement of promoter methylation in suppression of TIMP3 expression in choriocarcinoma was examined using methylation-specific PCR (MSP) and demethylation treatment.

MSP

choriocarcinoma


Input: Sonic hedgehog expression in gastric cancer and gastric adenoma.

Sonic hedgehog

gastric adenoma


Input: In this study, we investigated the contribution of Akt2 to experimental renal EMT and fibrosis using the well-established model of unilateral ureteral obstruction (UUO).

EMT

ureteral obstruction


Input: Here we report the first description of a child with mild intellectual disability and a submicroscopic duplication at Xp22. 12 identified by MLPA with a P106 MRX kit (MRC-Holland, Amsterdam, Netherlands) and further confirmed and characterized with a custom 244-k oligo-array, fluorescence in situ hybridization, quantitative polymerase chain reaction (qPCR), and immunoblotting.

MRC

mild intellectual disability


Input: Human Thy-1 (CD90) has been shown to mediate adhesion of inflammatory cells to activated microvascular endothelial cells via interaction with Mac-1 (CD11b/CD18) in vitro.

adhesion


Input: We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease.

moyamoya disease

moyamoya disease


Input: Molecular genetic analysis showed that the translocation in all cases resulted in a fusion transcript including the 5'-part of ACTB and the 3'-part of GLI.

GLI

translocation


Input: Finally, ABCR-mediated retinal degeneration may result from " poisoning " of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.

ABCR

retinal degeneration


Input: This study was designed to investigate whether IL-17 can regulate the expression of the MMP/TIMP system, the OPG/RANK/RANKL system, or type-I and type-III collagen fibers in a rat model of isoproterenol-induced heart failure (HF).

RANKL

heart failure


Input: Partially purified B cells from ataxia telangiectasia (A-T) patients and normal individuals were stimulated with Staphylococcus aureus Cowan I organisms (SAC).

SAC

telangiectasia


Input: Furthermore, clofibrate inhibition of humanized TAS1R3 in the genetic background of Tas1r3 (-/-), Gnat3 (-/-) doubly null mice led to inducible male sterility.

male sterility

male sterility


Input: A blind evaluation was carried out in two stages: first, under experimental conditions on convenience samples comprising 20 negative specimens, 44 smear-and culture-positive respiratory specimens, and 11 sputa inoculated with various mycobacterium-related organisms; and second, in the routine workflow of 566 fresh respiratory specimens (4. 9% acid-fast bacillus [AFB] smear positives, 7. 6% MTC positives, and 1. 8% nontuberculous mycobacteria [NTM] culture positives) from two Mycobacterium laboratories.

NTM

blind


Input: Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2.

P protein

P protein


Input: To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and & #197; land island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease.

AIED

AIED


Input: To report a case of ENPP1 loss-of-function novel mutation presenting with HR and very early onset and severe hearing loss.

severe hearing loss


Input: In this study, we compared the gene expression profiles of CS, EC, and uterine sarcoma (US) and evaluated the role of EMT and chromosomal aberrations in CS tumor formation.

EMT

chromosomal aberrations


Input: This study focused on the potential contributions of abnormalities in the HCN2 isoform and their role in FS.

abnormalities


Input: FHH was identified in 72 (20. 1%) children; 212 (59. 2%) children had at least one CVRF, where low high-density lipoprotein (HDL)-cholesterol (36. 3%), elevated waist circumference (WC) (29. 3%), and hypertriglyceridemia (28. 8%) were the most frequent; high-blood pressure (HBP) and hyperglycemia were recognized in 10 (3. 3%) and 1 (0. 3%) children.

HBP

waist circumference


Input: Epithelial-mesenchymal transition (EMT) is an essential step for tumor progression, although the mechanisms driving EMT are still not fully understood.

EMT

tumor progression


Input: The methylation of CpG islands in E-Cadherin and COX-2 genes in periodontitis patients occurs more frequently in periodontitis patients than in the control subjects, but occurs less frequently than in the breast cancer patients.

E-Cadherin

periodontitis


Input: We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25.

HNA

HNA


Input: Core specimens were obtained before neoadjuvant chemotherapy from sixty cases of primary breast cancer of the following four subgroups: luminal breast cancer (LBC) with pathological complete response (pCR), LBC with stable disease, triple-negative breast cancer (TNBC) with pCR and TNBC with poor response.

LBC

triple-negative breast cancer


Input: At the same time, overexpression of cyclin D1, Cdk4, and Rb was found in the corresponding lesion in adjacent esophageal sections.

esophageal


Input: Interestingly, upregulation of VEGF was not mediated by hypoxia-inducible transcription factor-1 (HIF-1) as indicated by only a weak expression of the oxygen-sensitive alpha-subunit of HIF-1 in the skin of SSc patients.

VEGF

hypoxia


Input: The transcription factor Sp1 has been implicated in cell-type-specific activation of transforming growth factor-beta (TGFbeta) target genes in normal epithelial cells as well as in aberrant gene activation by TGFbeta in epithelial tumor cells.

transcription factor Sp1

epithelial tumor


Input: Gene expression of differentiation-specific keratins (K4, K13, K1 and K10) in oral non-dysplastic keratoses and lichen planus.

lichen planus


Input: Constitutional mutations of the RET proto-oncogene have been identified in multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) families.

RET proto-oncogene

multiple endocrine neoplasia type 2A (MEN 2A

RET proto-oncogene

multiple endocrine neoplasia type 2A (MEN 2A


Input: Susceptibility for chronic chlamydial infection of PBMC in CAD patients appears associated with the CD14-159C > T promoter polymorphism encoding for enhanced CD14 expression.

chlamydial infection


Input: A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: Forced expression of the S1P (1) in low-expressor cell lines (U87, U251) resulted in decreased cell growth and led to suppressed tumor growth in transplanted gliomas in vivo.

gliomas


Input: Pro12Ala polymorphism was genotyped by TaqMan-based assay in genomic DNA of 1, 119 consenting patients from BErgamo NEphrologic DIabetic Complications Trial (BENEDICT)-a prospective, randomized trial evaluating ACE inhibition effect on new-onset microalbuminuria (albuminuria 20-200 microg/min in at least two of three consecutive overnight urine collections in two consecutive visits) in hypertensive type 2 diabetes with albuminuria < 20 microg/min at inclusion.

ACE

microalbuminuria


Input: Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations.

Citrullinemia type 1

Citrullinemia type 1


Input: Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family.

CMM

mesothelioma


Input: We propose that the circadian gene CRY2 is associated with rapid cycling in bipolar disorder.

bipolar disorder

bipolar disorder


Input: As mutations in several genes cause axonal degeneration in CMT type 2, mutations in mitofusin 2 (MFN2) account for approximately 90% of the most severe cases, making it the most common cause of inherited peripheral axonal degeneration.

peripheral axonal degeneration


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

porcn

natal teeth


Input: The data of RT-PCR showed that mRNA levels of ADM, IMD/ADM2 and RAMP2 in hypoxia group increased by 155. 1% (P < 0. 01), 80. 9% (P < 0. 01) and 52. 9% (P < 0. 05), respectively, compared with those in the control group.

ADM

hypoxia


Input: Our observations reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis.

chorein

neurodegeneration


Input: Intraperitoneal injection of 6 microg Abeta (1-40) into 18-days-old rat fetuses (approximately 3 g body weight) resulted after 24 h in the appearance of the peptide in various fetal organs including brain where it enhanced the levels of glutathione (GSH), glutathione reductase, glutathione peroxidase, and stimulated the levels of pro-survival signaling activities such as Akt serine/threonine kinase, extracellular signal-regulated kinase (ERK) and protein kinase C enzymes.

serine/threonine kinase

body weight


Input: Female estrogen receptor knockout mice develop glomerulosclerosis at 9 months of age due to excessive ovarian testosterone production and secretion.

estrogen receptor

glomerulosclerosis

estrogen receptor

glomerulosclerosis


Input: Transfection of cultured cells originally derived from high grade gliomas (U87-MG and SK-MG1) with ASIC2 abolished basal amiloride-sensitive sodium conductance; this inhibition was reversed by dialysis of the cell interior with Munc-18, a syntaxin-binding protein that typically blocks the interaction of syntaxin with other proteins.

gliomas


Input: Solo ECs subjected to hypoxia demonstrated upregulated expression of the same 16 genes, including VEGF and HIF1.

VEGF

hypoxia


Input: Common genetic variation near MC4R is associated with risk of adiposity and insulin resistance.

insulin resistance

insulin resistance


Input: Cyclin-dependent kinase inhibitor p27Kip1 controls growth and cell cycle progression in human uterine leiomyoma.

Cyclin-dependent kinase inhibitor

uterine leiomyoma


Input: We examined DNA damage responses and repair in four human glioma cell lines (A7, U87, T98G, and U373) and normal human astrocytes (NHAs) after clinically relevant radiation doses to establish whether we could identify differences among them that might suggest new approaches to selective radiosensitization.

glioma


Input: Sequence analysis of DNA samples from patients representing different Alexander disease phenotypes revealed that most cases are associated with non-conservative mutations in the coding region of GFAP.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Furthermore, the overexpression of src in p53 mutant zebrafish also caused hyperplasia, HCC, and sarcomatoid HCC, which were accompanied by increased levels of the signaling proteins p-erk, p-akt, myc, jnk1 and vegf.

HCC

hyperplasia


Input: The human homolog for the sorbin and SH3-domain-containing-1 gene, termed SORBS1, might play a role in human disorders with insulin resistance.

insulin resistance


Input: Here, we study TP53 wild-type (EW7, CADO-ES1 and TC32) and TP53-deleted (SK-N-MC) Ewing sarcoma cell lines to investigate the potentiating effect of p53 reactivation by Nutlin-3 on treatment with YK-4-279 to block transcriptional activity of EWSR1-FLI1 protein.

sarcoma


Input: Moreover, selective blockage of A2B receptor or knockdown of PAP or A2B on hypoxic GSCs results in significant reduction of phosphorylation of Akt and Erk-1/2.

PAP

hypoxic


Input: H19 overexpression in breast adenocarcinoma stromal cells is associated with tumor values and steroid receptor status but independent of p53 and Ki-67 expression.

breast adenocarcinoma


Input: Molecular epidemiology of EGFR and KRAS mutations in 3, 026 lung adenocarcinomas: higher susceptibility of women to smoking-related KRAS-mutant cancers.

EGFR

smoking


Input: Genotypic analysis showed that there is a statistical significance between c. 94C > A variant on ITPA gene with non response to AZA treatment (p = 0. 005) and arthralgia (OR 8. 2353; 95% CI 1. 752-38. 87, p = 0. 0041), as well as between mutant TPMT alleles and myelosuppression (OR 7. 5; 95% CI 1. 4456-38. 91, p = 0. 0304).

ITPA gene

myelosuppression


Input: In the present study, we established six mesothelioma cell lines possessing two allele deletions of the p16 (INK4A) gene and one allele deletion of the neurofibromatosis type 2 gene, MM16, MM21, MM26, MM35, MM46 and MM56, from pleural effusion fluids or surgically resected tumors of Japanese patients.

neurofibromatosis type 2


Input: Effect of antenatal glucocorticoid administration on insulin-like growth factor I and II levels in hypoplastic lung in nitrofen-induced congenital diaphragmatic hernia in rats.

insulin-like growth factor I

diaphragmatic hernia

insulin-like growth factor I

diaphragmatic hernia


Input: Additionally, HGF mRNA was induced in PBMC of a control subject cultured with the sera of recurrent cancer patients.

HGF

recurrent cancer


Input: The interacting proteins were creatine kinase, Gardner feline sarcoma v-FGR oncogene product, telethonin, SNC73 protein, ferritin light chain, peripheral benzodiazepine receptor, and immunoglobulin C (mu) and C (delta) heavy chain.

telethonin

sarcoma


Input: Screening of ABCC8 and KCNJ11 for mutations revealed abnormalities in the ABCC8 gene in three patients out of 13: homozygosity for the 155del1 mutation, compound heterozygosity for T267--> G/A4612-2--> G, and compound heterozygosity for G4310--> A/R1494Q.

ABCC8 gene

abnormalities


Input: Increased expression of CD4 + and CD8 + and decreased expression of Foxp3 and IL-17 were detected in nasal polyps compared with control tissue.

nasal polyps


Input: In CRC, MR activation may significantly decrease angiogenesis by directly inhibiting dysregulated VEGFA and hypoxia-induced VEGFA mRNA expression.

VEGFA

hypoxia


Input: Cultured human metastatic melanoma cells (A375, G361, LOX) were sensitive to DHA-induced apoptosis with upregulation of cellular oxidative stress, phosphatidylserine externalization, and activational cleavage of procaspase 3.

LOX

metastatic melanoma


Input: Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

Btk

X-linked agammaglobulinemia

Btk

X-linked agammaglobulinemia


Input: Associations of F2RL3 methylation and smoking with lung cancer incidence/mortality during a median follow-up of 10. 9 years were assessed by Cox regression, controlling for potential confounders.

regression


Input: SIRT1 overexpression was associated with CIMP-high (> or = 6 of 8 methylated CIMP-specific promoters, P = 0. 002) and microsatellite instability (MSI)-high phenotype (P < 0. 0001).

microsatellite instability


Input: MYBPH was for the first time assessed as a candidate hypertrophy modifying gene.

MYBPH

hypertrophy


Input: We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions.

Perry syndrome

Perry syndrome


Input: These findings suggest that adverse intrauterine environments leading to low birth weight also seem to exacerbate the effects of certain DAT1 variants on depression.

depression


Input: In vitro functional studies in HEK293 cells showed that this mutant gene enhanced the activity of the TG and TPO gene promoters (1. 5-fold and 1. 7-fold respectively vs. wild type FOXE1; p & lt; 0. 05), unlike the five mutations previously reported in Bamforth-Lazarus syndrome.

Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome


Input: Interestingly, 18 (81. 8%) out of 22 colorectal carcinoma specimens expressed a higher level of cripto mRNA than that in normal mucosas.

cripto

colorectal carcinoma


Input: These findings support a modest role of the DRD3 gene in susceptibility to cocaine dependence.

cocaine dependence

cocaine dependence


Input: We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America.

BSP

primary blepharospasm


Input: The t (17; 22) (q22; q13. 1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP.

PDGFB

translocation


Input: C-myc mRNA expression was studied by RT-PCR in peripheral blood of 25 tongue cancer patients and 24 controls.

C-myc

tongue cancer


Input: In patients with hepatocellular cholestasis, primary biliary cirrhosis, haemochromatosis and non-alcoholic steatohepatitis, using real-time RT-PCR, an enhanced hepatic expression of both SLC23A1 and SLC23A2, but not other organic anions transporters, such as OATP1A2, OATP1B1 and OATP1B3, was found.

haemochromatosis


Input: A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.

Denys-Drash syndrome

Denys-Drash syndrome


Input: Furthermore, analysis of the chromatin landscape of the telomerase promoters reveals dynamic recruitment of a transcriptional complex involving the hypoxia-inducible factor-1 transcription factor, p300, RNA polymerase II and TFIIB, to both promoters during hypoxia, which traffics along and remains associated with the hTERT gene as transcription proceeds.

TFIIB

hypoxia


Input: Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one.

PROP1 gene

pituitary hormone deficiency


Input: Considering the presence of bilateral 2nd-3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family.

BCOR

toe syndactyly


Input: The pattern and degree of VEGF-D expression was measured in normal tissue and invasive carcinomas, and expression was correlated with clinicopathological parameters, hypoxia markers, and survival.

VEGF-D

hypoxia


Input: We investigated whether hypoxia in vitro and an in vivo model of ischemic stroke would up-regulate IL-20 expression.

hypoxia


Input: A headache questionnaire that assessed the prevalence of significant headaches and diagnosis of migraine and aura by ICHD-2 criteria was administered to 27 individuals at risk for FAD.

FAD

migraine


Input: To identify molecular markers of tumor hypoxia and potential therapeutic targets in glioblastoma (GBM), we investigated the hypoxia-related expression of osteopontin (OPN), carbonic anhydrase 9 (CA9), erythropoietin (EPO), vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1alpha (HIF-1alpha) in vitro in human GBM cell lines and in vivo in human tumor samples of GBM, compared to low-grade astrocytoma (LGA).

EPO

astrocytoma


Input: Surprisingly, compared to WT, Tie2-CYP2C8 Tr hearts had significantly reduced LVDP recovery (from 21 to 14%) and increased infarct size after I/R (from 51 to 61%).

infarct


Input: Data show that Rai1-transgenic mice have growth retardation, increased locomotor activity, and abnormal anxiety-related behavior compared to wild-type littermates.

anxiety


Input: The Leu72Met (rs696217) polymorphism in GHRL modified the effect of moderate-to-vigorous PA on changes in weight and waist circumference, the-501A/C (rs26802) polymorphism in GHRL modified the effect of total and moderate-to-vigorous PA on change in high-density lipoprotein cholesterol, and the Lys109Arg (rs1137100) polymorphism in LEPR modified the effect of total PA on change in blood pressure.

LEPR

weight


Input: Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

Congenital erythropoietic porphyria

Congenital erythropoietic porphyria


Input: Women from non-BRCA1/BRCA2 hereditary breast cancer families had a higher age at menarche, but this was no longer significant after adjustment for other factors in a multivariate model.

age at menarche


Input: CD133 (+) liver tumor-initiating cells promote tumor angiogenesis, growth, and self-renewal through neurotensin/interleukin-8/CXCL1 signaling.

liver tumor


Input: Moreover, Crhr2-/-mice have elevated basal blood pressure, demonstrating that Crhr2 participates in cardiovascular homeostasis.

blood pressure


Input: We have performed a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies, including cancer of the skin (melanoma and nonmelanoma skin cancer), ovarian cancer, renal cell carcinoma, bladder cancer, non-Hodgkin lymphoma, leukemia, thyroid carcinoma, esophageal adenocarcinoma, hepatocellular carcinoma, sarcoma, head and neck and oral squamous cell carcinoma.

renal cell carcinoma


Input: We examined the expression and regulation of the Bcl-2/adenovirus EIB 19-kDa-interacting protein 3 (BNIP3), a pro-apoptotic gene regulated by nitric oxide (NO) in hepatocytes, in NEC.

adenovirus


Input: Using P504S, P63, or antikeratin 34beta E12 antibodies, we found it possible to define areas of transition from hyperplasia to carcinoma in 6 BPH nodules.

hyperplasia


Input: We found that hypoxia induced HIF-1alpha, CA IX and VEGF expression but not HIF-2alpha in NPC cells.

VEGF

hypoxia


Input: Family-wide loss-of-function analysis found that at least four Gbps--Gbp1, Gbp6, Gbp7, and Gbp10--conferred cell-autonomous immunity to listerial or mycobacterial infection within macrophages and gene-deficient animals.

mycobacterial infection


Input: Neither the FTO nor ADRB2 genotype had statistically significant effect on weight reduction or weight maintenance.

FTO

weight reduction


Input: A p. Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient.

RP1L1 gene

asymptomatic


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).

GCDH

cancers


Input: Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.

LAMA3 gene

atopic dermatitis


Input: Using a previously established HN3 cell line from a laryngeal carcinoma patient, we generated a chronically irradiated HN3R isogenic cell line.

laryngeal carcinoma


Input: In 30 cases of surgically resected sporadic thyroid cancer, the length of the THRA1 microsatellite was determined by DNA sequence analysis, and expression of thyroid hormone receptor-alpha1 was assessed immunohistochemically in thin sections cut from tumor blocks.

hormone receptor

sporadic


Input: It has been reported that PDT induces hypoxia and expression of the vascular endothelial growth factor (VEGF) via the hypoxia-inducible factor 1 (HIF1)-alpha pathway.

VEGF

hypoxia


Input: Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1.

FHIT

ataxia with oculomotor apraxia


Input: Multiple linear regression analysis identified age (beta = 0. 26, p = 0. 012), being a Kawasaki patient (beta = 0. 22, p = 0. 015), and MBL IL/LL genotype subgroup (beta = 0. 20, p = 0. 03) as significant determinants of arterial stiffness in the entire cohort.

MBL

arterial stiffness


Input: The GSTT1-and GSTM1-dependent risk for sporadic colorectal cancer (CRC) was studied in 247 incident CRC cases and 296 hospital-based controls.

sporadic


Input: For detection of chlamydial infection, HC2-RCS had a sensitivity and a specificity similar to those of PCR (P > 0. 5) and an improved sensitivity compared to that of culture (P = 0. 007).

chlamydial infection


Input: The two different translocation breakpoints in the AML1 gene with or without splicing out of AML1 exon 3 seemed to result in these four types of transcript in leukaemia samples.

translocation


Input: Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.

EVC

EVC


Input: In conclusion, our findings suggest that HGF modification promotes the amelioration of ischemia/reperfusion-induced rat renal injury via antiapoptotic and antiinflammatory mechanisms; thus, providing a novel therapeutic application for hucMSCs in AKI.

HGF

ischemia


Input: Lcn2 is a potential novel drug target for early intervention in schizophrenia.

schizophrenia

schizophrenia


Input: Therefore, vaccination strategies inducing such RHAMM-R3-directed effector T cells might be a promising approach to enhance specific immune responses against CML cells.

RHAMM

CML

RHAMM

CML


Input: We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families.

MTTP

abetalipoproteinemia

MTTP

abetalipoproteinemia


Input: Having a high IGF-I/IGFBP-3 ratio was associated with increased persistence of oncogenic HPV infection [that is, a lower rate of clearance; adjusted hazard ratio (AHR), 0. 14; 95% confidence interval (95% CI), 0. 04-0. 57], whereas IGFBP-3 was inversely associated with both the incident detection of oncogenic HPV (AHR, 0. 35; 95% CI, 0. 13-0. 93) and the incidence of oncogenic HPV-positive cervical neoplasia (that is, squamous intraepithelial lesions at risk of progression; AHR, 0. 07; 95% CI, 0. 01-0. 66).

AHR

squamous intraepithelial lesions


Input: Alveolar epithelial beta-adrenergic receptor (betaAR) activation accelerates active Na + transport in lung epithelial cells in vitro and speeds alveolar edema resolution in human lung tissue and normal and injured animal lungs.

beta-adrenergic receptor

edema


Input: To better define the abnormalities of parathyroid function in FBH and primary hyperparathyroidism (1 degree HPT), we used a two-site immunochemiluminometric assay for intact PTH to examine PTH suppressibility in normal individuals and patients having FBH or 1 degree HPT.

FBH

abnormalities


Input: In the present study, mangiferin notably restrained the proliferation and increased the apoptosis of the U87 glioma cells.

glioma


Input: TLR3/4 signaling is mediated via the NFκB-CXCR4/7 pathway in human alcoholic hepatitis and non-alcoholic steatohepatitis which formed Mallory-Denk bodies.

alcoholic steatohepatitis


Input: In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.

depression

depression


Input: The remaining Hspg2-/-mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities.

skeletal dysplasia

skeletal dysplasia


Input: TRIP6 regulates the membrane translocation and activation of AKT and facilitates AKT-mediated recognition and phosphorylation of p27 (KIP1) specifically at T157, thereby promoting the cytosolic mislocalization of p27 (KIP1).

AKT

translocation


Input: 131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical " Portuguese variant " axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits.

TTR

sensory loss


Input: Smad interacting protein 1 (SIP1) is an epithelial-mesenchymal transition (EMT)-inducible gene that plays a key role in tumor progression in various cancers.

EMT

tumor progression


Input: A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

Roussy-Levy syndrome

Roussy-Levy syndrome


Input: Elevated FGF23 concentrations are associated with hypophosphatemia in ADHR, and remission of the phenotype is associated with lower FGF23 concentrations.

ADHR

hypophosphatemia


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

glioblastoma multiforme

glioblastoma multiforme


Input: Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

corneal endothelial dystrophy

corneal endothelial dystrophy


Input: We have also previously reported that offspring of obese rat dams develop hepatic steatosis, mild hyperinsulinemia, and a lipogenic gene signature in the liver at postnatal day (PND) 21.

PND

hepatic steatosis


Input: Genomic deletion and duplication of TBX2 gene have been associated with cardiac defects.

TBX2 gene

cardiac defects


Input: In lymphoid cells, KOR-SA3544 was reactive with all of Ph1-positive ALL (26/26), a part of common ALL (5/38) and one case of early B precursor leukemia with 11q23 translocation, but not with peripheral lymphocytes.

KOR

translocation


Input: Gene expression analysis revealed upregulation of a set of immune-associated transcripts associated with inflammation and tumorigenesis in cells in which NQO1 was attenuated, with IL8 confirmed functionally in cell culture as one key NQO1-supported cytokine.

inflammation


Input: The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p. A307S) plus a novel splice site mutation.


Input: Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Atypical Rett syndrome

Atypical Rett syndrome


Input: The Balb/c strain exhibits a remarkable long lasting tolerance to alcohol injury for striatal and hippocampal cholinergic markers (choline acetyltransferase, high affinity choline uptake, muscarinic receptors affinity, acetyl cholinesterase), whereas C57Bl mice appear more sensitive to alcohol intoxication.

choline acetyltransferase

alcohol intoxication

choline acetyltransferase

alcohol intoxication


Input: Altered chromatin modifications in AML1/RUNX1 breakpoint regions involved in (8; 21) translocation.

translocation


Input: We have identified an association between the haplotype HLA-DRB1 * 1101, DQA1 * 0501, DQB1 * 0301 and atopic asthma that confers susceptibility to develop mite-sensitive asthma to atopics (relative risk, RR 8. 2), and to non-atopic controls (RR = 15. 8) that carry this haplotype.

atopic


Input: Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c. 40C & gt; T, c. 325G & gt; A, c. 1043A & gt; C, c. 1489C & gt; T, c. 1808C & gt; T, and c. 2101C & gt; T), two frameshift (c. 428_428delAinsCG and c. 1821delT), one splicing (c. 689 + 1G & gt; A), and three nonsense (c. 568C & gt; T, c. 649C & gt; T, and c. 1660C & gt; T).

CDAII

CDAII


Input: In miR-34a mimics group, human U87 glioma cells were transfected with miR-34a mimics by using lipofectamine 2000.

glioma


Input: Initial univariate analysis of the IL-6-174G > C polymorphism and carotid plaque showed no association in the whole sample.

plaque


Input: NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study.

HLA-DQB1 gene

susceptibility to tuberculosis


Input: Herein, we show that negative SMARCB1/INI1 expression (11% of CRCs) associates with loss of CDX2, poor differentiation, liver metastasis and shorter patients' survival regardless of the MMR status or tumor stage.

liver metastasis


Input: The improved cognitive functions could be attributed to increased synaptic connections and plasticity, which was confirmed by the modulation of the γ-aminobutyric acid receptor system and the elevated expression of microtubule-associated protein 2, synaptophysin and Slc17a7 (vesicle glutamate transporter, Vglut1), as well as by the inhibition of Cdh2 cleavage.

vesicle


Input: On the other hand we didn' t find any difference between the two groups concerning the ACE gene polymorphism as well as any relation of ACE gene and thickness of interventricular septum and interventricular left ventricular mass.

ACE gene

left ventricular mass


Input: Moreover, current-smoking was found to be a significant risk factor for an increased peak CK level in the ALDH2 * 2 allele carriers (B 2220. 2IU/L, p = 0. 008), but not the non-carriers.

smoking


Input: We report on a female patient with XY sex reversal with clitoromegaly, neonatal male testosterone and AMH levels, and a normal urine steroid profile.

AMH

sex reversal


Input: In an analysis of 151 white patients with mild, moderate, or severe asthma (Global Initiative for Asthma criteria), a significant association was found between mild asthma and the low-expression, 5-CATT MIF allele.

MIF

mild


Input: Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

DTDST

Autosomal recessive multiple epiphyseal dysplasia

DTDST

Autosomal recessive multiple epiphyseal dysplasia


Input: In contrast, necrosis of gene-modified tumor cells abrogates costimulation of T cells by CD80-expressing cells.

necrosis


Input: This protein-protein interaction is likely to be relevant for the development of Ewing' s sarcoma because mutations in NR0B1 that disrupt the interaction have transcriptional consequences and also abrogate oncogenic transformation.

sarcoma


Input: Our results link the ETO chromosomal translocation in AML with modifications in the intranuclear trafficking of the key hematopoietic regulatory factor, AML1.

chromosomal translocation


Input: To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration.

retinal degeneration


Input: Across mice from different transgenic lines, the density of SYN-IR presynaptic terminals correlated inversely with Abeta levels but not with hAPP levels or plaque load.

SYN

plaque


Input: Eight of the eyes underwent in situ hybridization with a specific VEGF mRNA probe to locate tumor and retinal cells that may produce this hypoxia-induced angiogenic factor.

VEGF

hypoxia


Input: Several transcription factors have emerged in recent years that induce EMT, with important implications for tumour progression.

EMT

tumour progression


Input: Herein, we describe a pyrosequencing-based approach to IDH1 and IDH2 mutation testing and its application to 139 neoplastic and non-neoplastic central nervous system specimens.

non-neoplastic


Input: The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7; 13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf.

chromosomal translocation


Input: The incidence of PAP overexpression was significantly higher in pancreatic cancer than in the other pancreatic diseases (P < 0. 01).

PAP

pancreatic diseases


Input: Proinflammatory cytokines, IL-1 and IL-6, have been shown to play essential roles in developmental stages of coronary artery plaque formation.

plaque


Input: Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia.

PRODH

HPI

PRODH

HPI


Input: YB-1 inactivation in human sarcoma cells dramatically reduces G3BP1 and SG formation in vitro.

sarcoma


Input: Pretreatment with adenovirus-mediated antisense GRP94 (AdGRP94AS) led to reduced viability of SY5Y cells after being subjected to H/R compared with wild-type cells or cells with adenovirus-mediated overexpression of GRP94 (AdGRP94S).

adenovirus


Input: PBMCs of patients newly diagnosed with metastatic melanoma were incubated with different doses of recombinant human IL-15 and tested against autologous tumor cells, LAK sensitive cell lines (i. e., FMEX and Daudi), as well as the natural killer-sensitive cell line K562, in a 15-h 51Cr release assay.

metastatic melanoma


Input: We conclude that the G--& gt; A substitution at position-119 of the AFP gene is the mutation causing HPAFP in this family.

AFP

HPAFP

AFP

HPAFP


Input: The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).

Leber congenital amaurosis

Leber congenital amaurosis


Input: We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families.

DMC

DMC


Input: Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.

IFN

granulomas


Input: In humans, MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and the nervous system.

nervous system


Input: Among the peripheral blood mononuclear cells (PBMCs) of vitiligo patients, CD8 + cytotoxic T lymphocytes (CTLs) that express IFN-γ exhibited significant expansion, which suggests that activated CTLs are the main source of increased IFN-γ in progressive vitiligo.

progressive vitiligo


Input: No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.

prodynorphin

major depression

prodynorphin

major depression


Input: We examined whether adrenomedullin, a vasoactive peptide expressed in the heart, modulates the increase in blood pressure, changes in systolic and diastolic function, and left ventricular hypertrophy produced by long-term administration of ANG II or norepinephrine in rats.

ANG

ventricular hypertrophy


Input: Our results demonstrate that exposure to hypoxia (10% O2) for 3-weeks increased levels of miR-27a and ET-1 in the lungs of C57BL/6 mice and reduced PPARγ levels.

PPARγ

hypoxia


Input: Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies. Genet Med advance online publication 09 March 2017.

BCD syndrome

BCD syndrome


Input: This cross-sectional analysis examined the relation between mammographic density and the CYP1A2 * 1F and COMT Val58 Met polymorphisms among 332 breast cancer cases and 254 controls in the Hawaii component of the Multiethnic Cohort.

mammographic density


Input: We conclude that highly proliferative renal cell carcinomas outgrow their vascular supply and develop chronic hypoxia inducing a decrease of proliferation and an increase of VEGF expression.

VEGF

hypoxia


Input: We found significant changes in the expression of NF-L in DLPFC, and PSD-95 and PSD-93 in ACC; increased transcript expression was associated with decreased protein expression, suggesting abnormal translation and/or accelerated protein degradation of these molecules in schizophrenia.

NF-L

schizophrenia

NF-L

schizophrenia


Input: Promoter methylation status of the MGMT, hMLH1, and CDKN2A/p16 genes in non-neoplastic mucosa of patients with and without colorectal adenomas.

MGMT

non-neoplastic


Input: Tetraspanin protein CD151 is overexpressed in a wide variety of cancer types, including lung cancer, and is closely associated with metastasis and poor prognosis of carcinoma.

carcinoma


Input: Urinary COL1A1 mRNA level correlates with proteinuria, glomerular and interstitial fibrosis, and inversely with estimated glomerular filtration rate (GFR); urinary fibronectin mRNA level significantly correlates with glomerular and interstitial fibrosis, and inversely with estimated GFR.

proteinuria


Input: This study compares the histologic phenotype of juvenile polyps with a SMAD4 or BMPR1A germline mutation and sporadic juvenile polyps.

sporadic


Input: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Martsolf syndrome

Martsolf syndrome


Input: RUNX3 expression enhanced serum starvation-induced apoptosis in HCC cell lines.

HCC

starvation


Input: Examine the relationships between allelic variants of the catechol-O-methyltransferase (COMT) gene, NS personality traits, and age of onset of drug use in heroin-dependent subjects in China.

COMT

personality traits


Input: We sought to define the mutation spectrum of the CASR gene in a Danish FHH population and to establish genotype-phenotype relationships regarding the different mutations.

CASR

FHH

CASR

FHH


Input: Genes expressed more abundantly in R + cells are associated with (1) tumour growth and metastasis including, betaigH3, mts1, igfbp5 protease, and mystique; (2) cell division, including cyclin A1 and cdk1; (3) signal transduction, including pkcdeltabp and lmw-ptp; and (4) metabolism including ATPase H + transporter and ferritin.

ptp


Input: Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.

AD

AD


Input: By using a murine model of bacteria-induced typhlocolitis, we investigated the role of IL-17A, IL-17F, and IL-22 in cecal versus colonic inflammation.

inflammation


Input: It is also uncertain how plasma PTH levels are related to the severity of biochemical abnormalities in FBH.

FBH

abnormalities


Input: Cells were cultured under normoxic (21% O (2)) or hypoxic (5% O (2)) conditions for up to 48 h. The accumulation of BNP, atrial natriuretic peptide (ANP), and vascular endothelial growth factor (VEGF) was then measured.

VEGF

hypoxic


Input: We also screened the CSX/NKX2-5 gene in sporadic and familial cases of other cardiopathies.

NKX2-5 gene

sporadic


Input: IR-ACTH, IR-gamma MSH, and IR-beta END were detected in all six pheochromocytomas and all 12 lung tumors (six squamous cell carcinomas, five adenocarcinomas, and one small cell carcinoma) we examined, as well as in a squamous cell carcinoma of the larynx.

END

small cell carcinoma


Input: The frequency of MAT1 overexpression was 100% (7/7) in primary ovarian carcinoma with metastasis but only 38. 5% (5/13) in those without metastasis (P = 0. 0103).

metastasis


Input: These results suggest that VEGF is one of the principal factors produced by hypoxic myocytes that is responsible for the induction of endothelial cell COX-2 expression.

VEGF

hypoxic


Input: Functional and co-immunoprecipitation experiments demonstrated the existence of a multiprotein complex (Sp1. Smad3. HIF-1) on the endoglin promoter, mediating the cooperation between the hypoxia and TGF-beta pathways.

TGF-beta

hypoxia


Input: Immunohistochemical and flow cytometric analyses characterized surface expression of c-Kit on mast cells in tissues obtained from patients with idiopathic pulmonary fibrosis, systemic sclerosis, sarcoidosis, and lymphangioleiomyomatosis, thus identifying a unique immunophenotype not shared by normal lung mast cells.

c-Kit

sarcoidosis