Input: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.

calcium-sensing receptor

familial hypocalciuric hypercalcemia

calcium-sensing receptor

familial hypocalciuric hypercalcemia


Input: Aggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia.

TRIOBP

schizophrenia


Input: PDE10A has been implicated in the pathophysiology of psychosis.

psychosis

psychosis


Input: Brain-derived neurotrophic factor (BDNF) has been reported to protect retinal neurons against ischemia and light-induced damage.

BDNF

ischemia


Input: Since the frequency of several of the manifestations, their sporadic presentations, and the presence of keloid formation differ from the X-linked form of this condition we propose de novo autosomal dominant acting mutations in a gene functionally related to FLNA, underpin this disorder.

FLNA

sporadic


Input: The hypothesis that trazodone may be effective in treating MEI, at least in cases that are steroid-dependent or resistant to ACTH, appears highly interesting.

ACTH

MEI

ACTH

MEI


Input: Missense mutations in the valosin-containing protein (VCP) gene on chromosome 9p13. 3-p12 cause inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320).

frontotemporal dementia


Input: Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure.

HPT

renal failure


Input: In our cohort of 104 untreated patients carrying + 12, NOTCH1 mutations occurred in 24% of cases and were associated to unmutated IGHV genes (P = 0. 003) and + 12 as a sole cytogenetic abnormality (P = 0. 008).

cytogenetic abnormality


Input: These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients.

MTP

ABL

MTP

ABL


Input: Increased expression of receptor phosphotyrosine phosphatase-& #946;/& #950; is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes.

phosphotyrosine phosphatase

schizophrenia

phosphotyrosine phosphatase

schizophrenia


Input: In vitro, using serum starvation-refeeding experiment, our results suggested that SYF2 was upregulated in proliferating HCC cells, and was positive correlated with the expression of PCNA and Cyclin D1.

HCC

starvation


Input: We focused on genes important in vascular autonomic physiology, and/or activated by hypoxia; hypoxia inducible factor 1-alpha (HIF 1-alpha), 2 splicing variants of vascular endothelial growth factor (VEGF); VEGF-121, VEGF-165, and phosphoglycerate kinase 1 (PGK 1).

VEGF

hypoxia


Input: Other smoking-related variables (ie, age at initiation, total duration, average number of cigarettes smoked per day, cumulative pack-years, and induction period) were also associated with MSI-high, CIMP-positive, and BRAF mutation-positive tumor subtypes.

BRAF

smoking


Input: The t (8; 21) (q22; q22) translocation, which fuses the ETO gene on human chromosome 8 with the AML1 gene on chromosome 21 (AML1-ETO), is one of the most frequent cytogenetic abnormalities associated with acute myelogenous leukemia (AML).

translocation


Input: Orexin A gene expression was statistically significantly correlated with the Satisfaction with Life Scale (r =-0. 28, p = 0. 018), a visual analogue scale of craving (r = 0. 734, p = 0. 000) and three subscales of the World Health Organization Alcohol, Smoking and Substance Involvement Screening Test, i. e. nicotine consumption (r = 0. 388, p = 0. 001), alcohol consumption (r = 0. 354, p = 0. 002) and cannabis consumption (r = 0. 783, p = 0. 000).

Orexin

cannabis

Orexin

cannabis


Input: Eight compounds were shown to inhibit VEGF expression in hypoxic cells at subtoxic concentrations.

VEGF

hypoxic


Input: SASH1, a member of the SLY-family of signal adapter proteins, is a candidate tumor suppressor in breast and colon cancer.

SLY

colon cancer


Input: Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.

PBD-ZSD

PBD-ZSD


Input: In pancreatic cancer cells constitutively expressing mda-7/IL-24 mRNA, a single treatment with arsenic trioxide, HPR or NSC656240 induces apoptosis, which correlates with production of MDA-7/IL-24 protein.

HPR

pancreatic cancer


Input: Except for BCL6, we confirmed protein expression of FRA2, JUND, CCR4, MYB, and MDM2 in CTCL skin lesions.

skin lesions


Input: In contrast, IgD deficiency appears not to contribute to increased infections and appears to be a dominant trait determined by a gene or genes on the extended major histocompatibility complex (MHC) haplotype [HLA-B 18, S042, DR2] (but probably not on type II C2-deficient haplotypes) similar to those previously identified on [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3].

infections


Input: The frequency of radiographic signs of sacroiliac joint involvement (greater than or equal to 2 and greater than or equal to 3 according to the New York criteria) was significantly higher in 28 HLA-B27 positive patients with classical seropositive rheumatoid arthritis (RA), than in 28 B27 negative RA controls.

rheumatoid arthritis


Input: PC-1/PrLZ gene overexpression has been identified to be associated with prostate cancer progression.

PrLZ

prostate cancer

PrLZ

prostate cancer


Input: Applying immunohistochemistry, we further validated expression of cyclin I and GDI2 in additional pancreatic carcinomas.

cyclin I

carcinomas


Input: Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue.

NDP

Coats' disease

NDP

Coats' disease


Input: We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency.

MPO

MPO deficiency

MPO

MPO deficiency


Input: As in other metabolic disorders, the distinction between " normal " and " disease " in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing.

ACADM

MCAD deficiency

ACADM

MCAD deficiency


Input: In HIF-1alpha knockdown DLD-1 colon cancer cells (DLD-1 (HIF-kd)), the hypoxic induction of vascular endothelial growth factor (VEGF) was only partially blocked.

VEGF

hypoxic


Input: Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer.

ERG

abnormalities


Input: Accumulating evidence indicates that a role for the IGF-pathway in mammographic density and breast cancer development.

IGF

mammographic density


Input: In order to determine the prevalence and clinical significance of mutations in the basal core promoter (BCP) and precore (pC) regions among inactive carriers, the nucleotide sequences from 41 inactive carriers were analyzed and compared with those from 29 individuals with chronic active hepatitis.

BCP

chronic active hepatitis


Input: Progressive caseation of pulmonary granulomas never occurred in alphabeta TCR-KO, IL-12-KO, and IFN-gamma-KO mice and was reduced in CD4-KO mice.

IFN

granulomas


Input: This translocation creates a fusion protein consisting of the acute myeloid leukemia-1 transcription factor and the eight-twenty-one corepressor (AML1 ETO), which represses transcription through AML1 (RUNX1) DNA binding sites and immortalizes hematopoietic progenitor cells.

translocation


Input: The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population.

schizophrenia

schizophrenia


Input: TRO activates two parallel pathways: I] EGFR/MEK1/2/ERK1/2 and II] NHE1 inhibition/cellular acidosis.

EGFR

acidosis


Input: The pathogenicity of the translocation may rest on collaborations among JAK2V617F-induced constitutive activation of JAK2, the oncogenic property of HMGA2, and disrupted pathways, such as alteration in DJ-1 expression, resulting from the impact of EFCAB6 abrogation.

translocation


Input: Also, FUS has been found in neuronal cytoplasmic inclusions in sporadic forms of ALS, suggesting that FUS has an important role in the neurodegeneration occurring in sporadic disease.

FUS

sporadic


Input: The upregulation of cyclin D1 gene expression and the downregulation of p57 (Kip2), accompanied by increased cyclin D/CDK4-dependent phosphorylation of pRb, acting as a checkpoint for G1/S phase transition, suggest abnormal cell cycle re-entry in postmitotic oligodendrocytes in SZ.

SZ

SZ


Input: Rearrangement of the BCL-2 gene is the molecular consequence of the t (14; 18) chromosomal translocation, which is found in approximately 60-90% of follicular lymphomas.

BCL-2 gene

chromosomal translocation


Input: MBL2 gene polymorphisms are associated with quantitative and qualitative MBL abnormalities in the serum.

MBL

abnormalities


Input: Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy.

cardiac hypertrophy

cardiac hypertrophy


Input: C-C chemokine receptor 5 (CCR5) regulates leukocyte chemotaxis and activation, and its deficiency exacerbates development of nephritis.

nephritis

nephritis


Input: This technique has provided a powerful tool for direct analysis of the Btk gene for the diagnosis of XLA and carrier detection.

Btk

XLA

Btk

XLA


Input: The 2 most frequent human MLL hematopoietic malignancies involve either AF4 or AF9 as fusion partners; each has distinct biology but the role of the fusion partner is not clear.

hematopoietic malignancies


Input: Tumor suppressor microRNA-31 inhibits gastric carcinogenesis by targeting Smad4 and SGPP2.

carcinogenesis


Input: Therefore, the aim of the present study was to analyze different single nucleotide polymorphisms (SNPs) in order to test the possibility that genetic variation in NPY or three of its receptor genes (NPY1R, NPY2R, and NPY5R) may explain some of the variation in AO of HD motor manifestations, in a comprehensive cohort of 487 German HD patients.

NPY

motor manifestations


Input: The aim of this study was to determine whether parathyroidectomy (PTx) would modify hypertension secondary to adrenocorticotrophin (ACTH) administration.

ACTH

hypertension secondary


Input: Two haplotype-tagging SNPs in IGF1, rs1520220 and rs2946834, showed a strong association with mammographic density.

mammographic density


Input: Knockdown of noggin in esophageal cancer cell line EC109, which expresses BMP6 strongly and SOST weakly, enhanced the non-adherent growth of the cells.

esophageal cancer


Input: The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T.

Tangier disease

Tangier disease


Input: The genome types of B19 from the fetuses and leukemia patients were similar to the types from patients with aplastic crisis and an asymptomatic individual.

asymptomatic


Input: The increased expression of receptors for IL-12 in granulomatous diseases such as pulmonary tuberculosis and sarcoidosis provides evidence supporting the commitment of lymphocytes to a Th1-type cytokine profile in vivo.

sarcoidosis


Input: It appears unlikely the R4/5 genotype plays a major role in the pathogenesis of CAD, as it was not associated with stenosis and atherosclerosis in RCA and LCX.

LCX

atherosclerosis


Input: The transcriptional activity of deletional mutants of 2. 5 kilobases of the 5'-flanking regulatory region of the rat P450scc gene cloned into a luciferase reporter gene was assessed in mouse adrenocortical Y-1, mouse Leydig MA-10, rat C6 glioma, rat GC somatotrope, and mouse GT1-7 neurosecretory cell lines.

glioma


Input: This is the first report describing a PAX6 gene mutation in aniridia cases from India and highlights the variable expressivity in phenotypes due to haploinsufficiency.

PAX6 gene

variable expressivity


Input: Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

brittle cornea syndrome

brittle cornea syndrome


Input: Pituitary insufficiency other than isolated diabetes insipidus is a rare finding of HPE, and occurs most frequently in patients with GLI2 mutations (the phenotype of which typically does not include frank neuroanatomic anomalies such as HPE); ours is the only described patient with a ZIC2 mutation and both anterior and posterior pituitary dysfunction.

diabetes insipidus


Input: In vivo, JQ1 abrogated experimental renal inflammation in murine models of unilateral ureteral obstruction, antimembrane basal GN, and infusion of Angiotensin II.

Angiotensin II

inflammation

Angiotensin II

inflammation


Input: This study challenges the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures.

PLP

seizures


Input: Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population.

aldehyde dehydrogenase 2

smoking


Input: The most effective approach in this study used the Grp78 promoter in glucose-starvation stress conditions.

starvation


Input: We investigated the involvement of RFK in cisplatin resistance using human prostate cancer PC3 cells.

RFK

prostate cancer

RFK

prostate cancer


Input: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11. 21.

autosomal recessive hereditary spastic paraplegia


Input: Thus, while induction of cardiac hypertrophy is a multifaceted process, inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote compensatory cardiac hypertrophy.

AKAP-Lbc

cardiac hypertrophy


Input: Transactivation response DNA-binding protein 43 (TDP-43) proteinopathies are classified based upon the extent of modified TDP-43 and include a growing number of neurodegenerative diseases such as amyotrophic lateral sclerosis, frontotemporal lobar degeneration with ubiquitin-immunoreactive, tau-negative inclusions and frontotemporal lobar degeneration with motor neuron disease.

DNA-binding protein

amyotrophic lateral sclerosis


Input: 300 min after the proinflammatory insult, plasma concentrations of IL-1β and IL-6 in the plasma remain considerably lower after CLI compared to endotoxemia.

CLI

endotoxemia


Input: The COX-2 selective inhibitor-independent COX-2 effect on colon carcinoma cells is associated with the Delta1/Notch1 pathway.

colon carcinoma


Input: A majority of the PCR-negative cases (75%) contained an IGH/BCL2 translocation with FISH methods, suggesting the presence of other BCL2 breakpoints.

translocation


Input: Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of alpha and/or beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene.

GNPTAB

ML) II alpha/beta

GNPTAB

ML) II alpha/beta


Input: The levels of serum IgG to CK19 were significantly higher in the TDI asthma group than in groups 2 and 3 (P =. 008).

asthma

asthma


Input: Ucn2 has marked and beneficial hemodynamic, hormonal, and renal effects in experimental HF.

HF

HF


Input: Three novel RUNX1 translocation partner genes on 1q21. 2 (ZNF687), 1p35 (YTHDF2), and 4q31. 3 (SH3D19) were identified using a panhandle polymerase chain reaction and the 3' rapid amplification of cDNA ends method.

translocation


Input: Epithelial-mesenchymal transition (EMT) involving down-regulation of E-cadherin is known to play an important role in tumour progression.

EMT

tumour progression


Input: Immunohistochemical evaluation of p16 and p53 expression aids in the differential diagnosis of squamous cell alterations of the vulva.

aids


Input: Dysfunction of Paneth and goblet cells in the intestine contributes to inflammatory bowel disease (IBD) and colitis-associated colorectal cancer (CAC).

CAC

bowel disease


Input: We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance.

BDMR

BDMR


Input: DHFR and RFC1 expression was lower in initial osteosarcoma biopsy specimens than in metastases (P =. 024 and P =. 041, respectively).

DHFR

metastases

DHFR

metastases


Input: Expression of miR-301a-3p was measured by qRT-PCR in tumor tissue samples from 111 patients with primary breast carcinoma and in mammospheres representing in vitro model of cancer stem-like cells.

breast carcinoma

breast carcinoma


Input: FLG mutations may predispose to skin disease in young children including urticaria, and rash not recognized as atopic dermatitis although equally frequent.

FLG

rash


Input: Our data imply that urinary Smad1 might be a representative diagnostic marker for mesangial matrix expansion in diabetic nephropathy.

diabetic nephropathy


Input: We used Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and immunohistochemical analysis to detect the expression of DC-LAMP and DC-SIGN in 33 samples representing plaque lesions of psoriasis vulgaris and 11 normal skin samples from healthy volunteers.

DC-SIGN

plaque


Input: As type 2 diabetes does not alter sKlotho levels, sKlotho does not seem to play a major role in the pathogenesis of MVD in type 2 diabetes.

MVD

type 2 diabetes


Input: Thus, we implicated a specific gene on chromosome 6 in the etiology of melanoma metastasis and identified potential up-stream regulators of KISS1 and TXNIP.

TXNIP

melanoma


Input: Cytogenetic and molecular studies in the patient and her parents showed a de novo translocation 46, X, t (X; 15) (q27. 1; p11. 2) in the patient, indicating a possible break near the factor IX gene.

factor IX

translocation


Input: They include the calcium sensor gene visinin-like 1 (VSNL1) and the ionotropic AMPA glutamate receptor subunit (GRIA2), which were found to be down-regulated in the same cortical tissue from the schizophrenia group.

schizophrenia

schizophrenia


Input: CMV vector and VACM-1 cDNA stably transfected T47D breast cancer-derived cells were treated with resveratrol and cell growth and VACM-1 protein concentrations were measured.

breast cancer

breast cancer


Input: All patients underwent laboratory investigations including: red cell count, hemoglobin, white cell count, platelets, bilirubin, alanine aminotransferase (ALT), aspartate aminotransferase (AST), and viremia.

AST

hemoglobin


Input: The cost-effectiveness of using MRI and mammography in combination to screen for breast cancer in BRCA1/2 mutation carriers is finely balanced.

MRI

breast cancer


Input: We propose that BTG3-dependent CHK1 ubiquitination contributes to its chromatin localization and activation and that a defect in this regulation may increase genome instability and promote tumorigenesis.

tumorigenesis


Input: The sudden death of MCAP patients was previously attributed to CTH, convulsion, or arrhythmia.

CTH

sudden death


Input: Using linear and stepwise regression procedures, we found that those with PHI demonstrated a greater degree of cognitive decline overall during the years following recovery from injury compared with a control group of uninjured Vietnam veterans.

PHI

regression


Input: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.

anemia


Input: Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches.

MMD

cerebrovascular disease


Input: We enrolled seventy-five glioblastoma patients that had presented with enlarged contrast-enhanced lesions on magnetic resonance imaging (MRI) one month after completing concurrent chemoradiotherapy and undergoing MGMT promoter methylation testing.

MRI

glioblastoma


Input: We hypothesized that gene therapy with CFTR would improve the pulmonary hypoplasia associated with congenital diaphragmatic hernia (CDH).

CFTR

diaphragmatic hernia

CFTR

diaphragmatic hernia


Input: Despite sequence comparisons that predict that SET1 family enzymes should only monomethylate their substrates, mono-, di-, and trimethylation of H3K4 has been attributed to SET1 family complexes in vivo and in vitro.

mono


Input: Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal-high serum ferritin, and increased hepcidin.

hepcidin

hypochromic microcytic anemia


Input: Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-proliferative effect in hepatoma carcinoma cells.

adenovirus


Input: Increases in airway eosinophilia and a th1 cytokine during the chronic asymptomatic phase of asthma.

asthma


Input: We systematically examined the role of CD97 and its closest relative, EMR2, in normal and malignant gastric, esophageal, and pancreatic tissue.

esophageal


Input: In subcutaneous xenograft models of human cancer, administration of RNase1 but not DNase decreased tumor volume and weight.

weight


Input: The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected.

MMD

MMD


Input: We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia.

FLNB

boomerang dysplasia

FLNB

boomerang dysplasia


Input: She was not suspected of having T2 deficiency during her childhood, but she was diagnosed as T2 deficient at the age of 25 years by enzyme assay using fibroblasts.

T2 deficiency

T2 deficiency


Input: On the other hand, mutations were identified in genes linked to other ophthalmic phenotypes, some inclusive of glaucoma, highlighting conditions that might phenotypically overlap with primary congenital glaucoma (SLC4A4, SLC4A11, CPAMD8, and KERA).

glaucoma

glaucoma


Input: More importantly, IL-21-secreting GL D2-60 cells or 1 microg of rIL-21 protein stereotactically injected into established GL D2-60 tumors were able to trigger glioblastoma rejection in 90 and 77% of mice, respectively.

glioblastoma


Input: In order to investigate the validity of these results and to estimate how broadly applicable they are, we performed a linkage study between bipolar affective disorder and two DNA markers (D21S171 and PFKL) from 21q22. 3 using 60 bipolar pedigrees from three European centres and Brazil.

PFKL

bipolar affective disorder

PFKL

bipolar affective disorder


Input: The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date.

JPS

JPS


Input: These results support the idea that Cdk5 activity is involved in altered gene expression after chronic exposure to cocaine and hence impacts the long-lasting changes in neuronal function underlying cocaine addiction.

cocaine addiction

cocaine addiction


Input: Polymerase chain reaction analysis with T-cell receptor γ-chain gene rearrangement (TCR-γR) was performed on the original lymph node and new skin lesions.

T-cell receptor γ-chain gene

skin lesions


Input: However, malignant gliomas express high levels of VEGF in both hypoxic perinecrotic and vital tumor areas.

VEGF

hypoxic


Input: Significant associations were found for: LPL genetic polymorphic variant and abdominal obesity (p = 0. 013), APO epsilon4 allele and hypercholesterolemia (p = 0. 003), and ESR1-TA long allele and hypercholesterolemia (p = 0. 011).

abdominal obesity


Input: A glycogen synthase kinase 3-beta promoter gene single nucleotide polymorphism is associated with age at onset and response to total sleep deprivation in bipolar depression.

glycogen synthase kinase 3-beta

sleep deprivation


Input: However, in an in vitro inflammasome activity assay with PBMC, IL-1 & #946; protein secretion and the IL-1 & #946;/IL-1Ra protein ratio were similar in MS patients and HC.

MS

MS


Input: Sonic hedgehog might play a pivotal role during tumorigenesis of pancreatic adenocarcinoma, and high Shh expression might be associated with the malignant potential of pancreatic cancer.

Sonic hedgehog

tumorigenesis


Input: Our results suggested that Tiam1 signaling contributed to the invasion and metastasis of the human giant-cell lung carcinoma cells.

giant


Input: The results described here demonstrate that transcriptional up-regulation of the INSR locus is correlated with the t (1; 19) translocation found in human pre-B ALL cell line 697.

INSR

translocation


Input: These lesions include hyperplastic-type aberrant crypt foci, hyperplastic polyps, sessile serrated adenomas, admixed polyps and serrated adenomas, and constitute the so-called' serrated pathway', which is distinct from both the conventional adenoma-carcinoma pathway and the mutator pathway of hereditary non-polyposis CRC and is characterized by early involvement of oncogenic BRAF mutations, excess CpG island methylation (CIM) and subsequent low-or high-level DNA microsatellite instability (MSI).

BRAF

aberrant crypt foci


Input: Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere' s disease.

Meniere' s disease

Meniere' s disease


Input: SNORD50A and SNORD50B snoRNAs thus directly bind and inhibit K-Ras and are recurrently deleted in human cancer.

cancer

cancer


Input: To date, mutations in COG1, COG4, COG7 and COG8 genes have been associated with diseases, which range from severe multi-organ disorders to moderate forms of neurological impairment.

neurological impairment


Input: CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.

CENPJ

Seckel syndrome

CENPJ

Seckel syndrome


Input: Inhibition of spinal CRTC1 expression reduced bone cancer pain.

cancer pain


Input: Total IRP binding to an iron responsive element (IRE) mRNA probe was increased several fold by hypoxia in HEK 293 cells, maximally at 4-8 h. An earlier and more modest increase (1. 5-to 2-fold, peaking at 2 h and then declining) was seen in HepG2 cells.

IRP

hypoxia


Input: Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

PPOX

porphyria, variegate

PPOX

porphyria, variegate


Input: These data represent the first experimental evidence about a nonredundant role of the FGF/FGFR system in the modulation of the EMT process in melanoma and indicate that PTX3 or its derivatives may represent the basis for the design of novel therapeutic approaches in FGF/FGFR-dependent tumors, including melanoma.

melanoma


Input: These mutations did not occur in three other unrelated MPS VI patients or in 120 ASB alleles from normal individuals, indicating that they were not polymorphisms.

ASB

MPS VI

ASB

MPS VI


Input: The expression of PSAT1 in 64 surgical resections from esophageal carcinogenesis patients was examined by quantitative RT-PCR and immunohistochemistry and the results were compared with clinicopathological factors.

esophageal


Input: AAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression.

GFAP

AxD

GFAP

AxD


Input: Anti-IL-6 antibody added to HOBIT or POB CM dose-dependently inhibited the CM-induced cell proliferation and PSA expression in these CaP cell lines.

CaP

CaP


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

NBCIE

NBCIE


Input: Drug treatments targeting CTGF, TNFR1, and IκB signaling each prohibited the EMT and tumor progression.

EMT

tumor progression


Input: Clonal immunoglobulin gene rearrangement was detected in 97% of PFL cases, but fluorescence in situ hybridization analysis showed an absence of the BCL2/IGH @translocation in all cases tested.

translocation


Input: Expression levels of TNF-α, IFN-γ in the hyperplasia group have a positive correlation to bone loss, whereas expression levels of TGF-β, IL-4 in the necrosis group have a positive correlation to the bone formation.

TGF-β

necrosis


Input: Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

SOST

van Buchem disease

SOST

van Buchem disease


Input: CD163 (+) TAMs in oral premalignant lesions coexpress CD163 and STAT1, suggesting that the TAMs in oral premalignant lesions possess an M1 phenotype in a Th1-dominated micromilieu.

premalignant


Input: This study aimed at investigating the roles of the 5-HT (1B) R, and its adapter protein p11, in emotional memory and object recognition memory processes by the use of p11 knockout (p11KO) mice, a genetic model for aspects of depression-related states.

5-HT (1B) R

depression

5-HT (1B) R

depression


Input: We have hypothesized that the extracellular matrix protein reelin is involved in the pathogenesis of major depression.

reelin

major depression

reelin

major depression


Input: MRI and breast cancer: role in detection, diagnosis, and staging.

MRI

breast cancer


Input: Intracellular cytokine staining for IFN-γ, IL-2, and TNF-α revealed mono-, dual-, as well as triple-positive CD8 (+) T cells, indicating these M. tuberculosis peptide-specific CD8 (+) T cells were (poly) functional.

IFN

mono


Input: However, the mechanism underlying cardioprotection of Hsp20 and especially the role of its phosphorylation in regulating ischemia/reperfusion-induced autophagy, apoptosis, and necrosis remain to be clarified.

ischemia


Input: Disorders that disturb ubiquitin regulatory signaling include at least two subtypes of Fanconi anemia, the BRCA1 and BRCA2 forms of breast and ovarian cancer susceptibility, incontinentia pigmenti, and cylindromatosis.

incontinentia pigmenti


Input: In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.

abnormalities


Input: The results demonstrate that a mutated type I procollagen gene based on the model of procollagen suicide can be used to produce a severe phenotype of osteogenesis imperfecta that is genetically transmitted.

type I procollagen

suicide


Input: Genotyping of Ser311Cys, the DRD2 intron 2 STR, and the Taq1A marker in 459 subjects, including 373 sib-pairs and 15 Cys311/Cys311 homozygous individuals, revealed no association to alcoholism, substance use disorders, or schizophrenia.

STR

substance use disorders


Input: Cytogenetic analysis revealed a balanced translocation involving chromosomal band 21q22, which disrupts the RUNX1 gene, and 10q22, with the following karyotype: 45, X,-X, t (10; 21) (q24; q22) [cp16]/46, XX [4].

RUNX1 gene

translocation


Input: To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: In the present study, we investigated the effect and mechanisms of quinidine, a commonly used voltage-gated K + channel blocker, on cell proliferation and apoptosis of human glioma U87-MG cells.

glioma


Input: The physiologic properties of the normal cellular prion protein (PrP (C)) have not been established fully, although recent evidence showed its upregulation in cerebral ischaemia.

prion protein

cerebral ischaemia


Input: In conclusion, SNPs in SLC30A3 showed a gender-specific association with schizophrenia in this East UK cohort, which merits further investigation in other population samples.

schizophrenia

schizophrenia


Input: Using an ex vivo model of vascular calcification, γ-carboxylated GRP but not undercarboxylated GRP was shown to inhibit calcification and osteochondrogenic differentiation through α-smooth muscle actin upregulation and osteopontin downregulation.

smooth muscle actin

vascular calcification


Input: These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.

monomelic amyotrophy

monomelic amyotrophy


Input: We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.

WWOX

LOAD

WWOX

LOAD


Input: GBA mutation status, APOE4 genotype, LB pathological findings (assessed according to the third report of the Dementia With Lewy Body Consortium), and Alzheimer plaque and tangle pathological findings (rated by criteria of Braak and Braak, the Consortium to Establish a Registry for Alzheimer Disease, and the National Institute on Aging-Reagan Institute).

GBA

plaque


Input: We show that renal cyst formation is accompanied by a drastic defect in the transcriptional activation of Umod, Pkhd1 and Pkd2 genes, whose mutations are responsible for distinct cystic kidney syndromes.

Umod

renal cyst


Input: Cdkn1c encodes a potent negative regulator of fetal growth that also regulates placental development, consistent with a proposed role for CDKN1C in these complex childhood growth disorders.

growth disorders


Input: To evaluate interactions between expressions of tumor suppressor gene p53 and angiogenic factors vascular endothelial cell growth factor (VEGF) and interleukin-8 (IL-8) and their effect on tumor angiogenesis and patient prognosis in non--small-cell lung cancer (NSCLC).

endothelial cell growth factor

tumor angiogenesis


Input: In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5).

neurotrophin 4

mental retardation

neurotrophin 4

mental retardation


Input: To compare the circulating levels of matrix metalloproteinase (MMP)-2, MMP-9, tissue inhibitors of metalloproteinase (TIMP)-1, TIMP-2, and the MMP-9/TIMP-1 and MMP-2/TIMP-2 ratios in preeclampsia and gestational hypertension with those found in normotensive pregnancies.

TIMP

preeclampsia


Input: Here we show that podoplanin promotes tumorigenesis of oral squamous cell carcinoma (OSCC) and precancerous cells both in vitro and in vivo, and the ErbB3-binding protein-1 (Ebp1) can be activated in oral tumorigenesis and can serve as a transcriptional activator to drive podoplanin expression in the malignant progression.

squamous cell carcinoma


Input: In addition, we demonstrate that mCRP is generated on the surface of necrotic retinal pigment epithelial cells and that this newly formed mCRP colocalizes with the cell damage marker annexin V. Bound to the cell surface, Factor H-mCRP complexes allow complement inactivation and reduce the release of the proinflammatory cytokine TNF-α.

annexin V

necrotic


Input: The objective of the present study was to examine the potential impact of a T--> C substitution at codon Leu (338) of the type I (HSD3B1) 3 beta-HSD gene on obesity, circulating hormones, and estimates of insulin, glucose, and lipid metabolism as well as blood pressure in 284 unrelated Swedish men born in 1944.

obesity


Input: To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.

SLC26A4 gene

sporadic


Input: We hypothesized that the SLF-derived MCP-1 plays a role in inner ear inflammation secondary to OM that is responsible for hearing loss and dizziness.

SLF

ear inflammation


Input: Exome-seq revealed intensive genomic instability in a cell line with MLH1 homozygous deletion, indicated by a dramatically elevated rate of somatic substitutions, small insertions/deletions (indels), as well as indels in microsatellites.

genomic instability


Input: These findings indicate that polymorphism of the DRD2 gene may be one genetic factor that affects body height in childhood, acting through the hypothalamus (GH-releasing hormone)--pituitary (GH)--IGF-I axis.

DRD2 gene

body height


Input: Importantly, among the transcripts regulated by NAP were key genes associated with proconvulsant properties and with long-lasting changes that underlie the epileptic state, including activin A receptor (associated with apoptosis), neurotensin (associated with proper neurotransmission) and the Wolfram syndrome 1 homolog (human, associated with neurodegeneration).

NAP

neurodegeneration


Input: Augmented EGFR signaling contributes to abnormalities of vascular tone and renal sodium handling as well as vascular remodeling and myocardial hypertrophy through various intracellular mechanisms, in particular extracellular signal-regulated kinases (ERK) and phosphoinositide 3-kinase (PI3K).

ERK

vascular remodeling


Input: Overall, the present study demonstrated that overexpression of the HGF gene attenuated brain ischemic injury in a rat model, without cerebral edema, through angiogenic and neuroprotective actions.

HGF gene

cerebral edema


Input: In vitro, serum starvation-refeeding experiment and SYF2-siRNA transfection assay demonstrated that the expression of SYF2 was promoted in the proliferative progression of EOC cells, while knockdown of SYF2 expression decreased and inhibited cell growth rate of EOC cells.

starvation


Input: In order to evaluate possible mechanisms mediating this, we investigated if the TGFB1 polymorphism was associated with the severity of mucositis induced by CRT.

CRT

mucositis


Input: An IGF-I promoter polymorphism modifies the relationships between birth weight and risk factors for cardiovascular disease and diabetes at age 36.

IGF-I

birth weight


Input: We localized HSC70 to 11q23. 3, a region deleted in 40% of sporadic breast and other cancers.

sporadic


Input: We tested the angiogenic potential of 9 cell lines of pancreatic ductal carcinoma origin by screening mRNA and protein expression of VEGF and bFGF and the release of VEGF into culture medium under normoxic and hypoxic (5% or 0. 2% O2) conditions.

VEGF

hypoxic


Input: In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.

NPY

body weight


Input: Furthermore, rhapontigenin reduced vascular endothelial growth factor (VEGF) secretion in hypoxic PC-3 cells as well as suppressed tube formation in human umbilical vein endothelial cells (HUVECs) treated by the conditioned media of hypoxic PC-3 cells.

VEGF

hypoxic


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

mammalian target of rapamycin

plethora


Input: In the presence of lisinopril (ACE inhibitor), but not candoxatril (NEP inhibitor) or apstatin (APP inhibitor), bradykinin also elicited hypotension.

bradykinin

hypotension

bradykinin

hypotension


Input: The polycomb group genes Bmi1 polycomb ring finger oncogene (Bmi1) and enhancer of zeste homolog 2 (EZH2) function as transcriptional repressors involved in gene silencing and in the malignant transformation and biologic aggressiveness of several human carcinomas.

aggressiveness


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: A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).

proinsulin

hyperproinsulinemia

proinsulin

hyperproinsulinemia


Input: The frequencies of stx2c, stx2d, and stx2e among 96 STEC isolates from asymptomatic subjects were comparable to those among isolates from patients with diarrhea.

asymptomatic


Input: Although VEGF gene expression is mainly stimulated by hypoxia, we have measured lower VEGF levels in cerebrospinal fluid (CSF) from hypoxaemic patients with amyotrophic lateral sclerosis (ALS) than in CSF from normoxaemic patients with ALS.

VEGF

hypoxia


Input: The intracellular localization of the Wilson disease gene product, ATP7B, was recently identified as the late endosomes.

Wilson disease

Wilson disease


Input: Simvastatin inhibited NOR-1 expression induced by LDL in VSMC and by hypercholesterolemia in the abdominal aorta of hyperlipemic pigs.

hypercholesterolemia

hypercholesterolemia


Input: FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Postaxial Polydactyly

Postaxial Polydactyly


Input: Cell culture experiments using CHO-HIRc-myc-GLUT4eGFP cell lines stably expressing insulin receptor and myc-GLUT4eGFP protein, as well as L6 skeletal muscle cells stably expressing rat GLUT4 with a Myc epitope (L6-GLUT4myc), showed that NO, nitrite, and GSNO stimulate GLUT4 translocation independent of insulin, which is inhibited by NEM.

insulin receptor

translocation


Input: Thus, GPIbalpha contributes to arterial thrombosis by important adhesion mechanisms independent of the binding to VWF.

GPIbalpha

adhesion


Input: Therefore, we examined RAR and RXR subtypes in DCIS (58 cases), atypical ductal hyperplasia (ADH) (32 cases), and proliferative disease without atypia (PDWA) (32 cases) to study the status of these RARs and RXRs.

RAR

atypical ductal hyperplasia


Input: Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.

colorectal cancer

colorectal cancer


Input: N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.

mucopolysaccharidosis type VI

mucopolysaccharidosis type VI


Input: The expression levels of miR-199a in 11 pairs of matched HCC neoplastic and adjacent non-neoplastic tissues, 5 HCC cell lines and liver cell line L02 were examined by quantitative real-time PCR analysis.

HCC

non-neoplastic


Input: We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD.

PRNP

CJD

PRNP

CJD


Input: Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product.

WT1 gene

desmoplastic


Input: EGF induced rapid phosphorylation of c-Src and PKCdelta and concomitant translocation of PKCdelta as well as SphK1 to the plasma membrane.

translocation


Input: We identified 25 genes, including hypoxia-related genes (e. g., MIF, SCD1, P4HA1, ENO1, and STAT1) and cell cycle-and DNA repair-related genes (e. g., TACC3, PRDX1, PRKDC, and H2AFY).

hypoxia


Input: eEF2K is also regulated by a plethora of other inputs, including inhibition by signalling downstream of anabolic signalling pathways such as the mammalian target of rapamycin complex 1.

mammalian target of rapamycin

plethora


Input: Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness.

MAC

retinal dystrophies


Input: The objective of this study was to investigate the potential relation of megalin receptor injury with nuclear factor-kappa B (NF-& #954; B) upregulation in acute kidney injury rat model.

megalin

acute kidney injury

megalin

acute kidney injury


Input: LL homocygotes in NPY had a greater reduction in glucose, triglycerides, and LDL cholesterol whereas in resistin carriers of the G allele had a greater reduction in weight and triglycerides.

NPY

weight


Input: Blood samples were obtained retrospectively from a total 55 PUPs who were investigated for the spectrum of FVIII gene mutations responsible for their haemophilia.

FVIII

haemophilia

FVIII

haemophilia


Input: A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.

leptin receptor

pituitary

leptin receptor

pituitary


Input: Clinical and immunologic features of an atypical intracranial mycobacterium avium complex (MAC) infection compared with those of pulmonary MAC infections.

MAC

infections


Input: Human prostate adenocarcinoma cell lines, TSU-PR1 and PC3, were grown in serum-free media containing 4-HPR.

prostate adenocarcinoma


Input: Thus the phenotypic spectrum of CHKB mutations ranges from a congenital muscular dystrophy with intellectual disability to a later-onset non-progressive muscular weakness with normal cognition.

CHKB

normal cognition


Input: Higher BDNF methylation status was independently associated with prevalent, persistent and particularly with incident PSD, and with worsening depressive symptoms over follow-up but not with baseline severity.

PSD

depressive symptoms


Input: Our data confirm that a specific pattern of genomic instability characterizes BRCA1/2-related cancers and that this pattern has implications for the biology of these cancers.

genomic instability


Input: These results indicate that the XLRS1 protein appears not to affect photoreceptor function directly for most XLRS males, and that ERG signaling abnormalities occur in both the ON-and OFF-pathway components that originate in the proximal retina.

ERG

abnormalities


Input: We measured levels of IL-17 in SF specimens from children with enthesitis-related arthritis (ERA) and polyarticular JIA (poly-JIA), and studied the ability of IL-17 to produce matrix metalloproteinases (MMP) and cytokines by fibroblast-like synoviocytes (FLS) from patients with ERA.

enthesitis-related arthritis


Input: This study did not demonstrate a difference in the cumulative incidence of BM over time between the two cohorts (EGFR/ALK cohort competing risk regression [CRR] coefficient of 0. 78 [95% CI 0. 44-1. 39], p = 0. 41).

EGFR

regression


Input: In the current study, for the first time we demonstrated that proteasome inhibitors downregulated 14-3-3ε and 14-3-3θ/τ in U87 and SF295 glioma cells.

glioma


Input: Since the Tyr-Trp-Thr-Asp beta-propeller domain of LDLR has been shown to be involved in the dissociation of bound LDL via intramolecular competition at low pH, we studied whether it also plays a role in HRV infection.

LDLR

dissociation


Input: We conclude that bcl-2 is an important regulator of photoreceptor cell death in retinal degenerations.

retinal degenerations

retinal degenerations


Input: In PCOS patients, variables of body composition (body mass index (BMI), waist to hip ratio, dual-energy X-ray-absorptiometry fat mass) and of insulin resistance were correlated with IL-6 or CRP, while parameters of hyperandogenism were not.

CRP

waist to hip ratio


Input: Increased expression of uteroglobin associated with tubal inflammation and ectopic pregnancy.

uteroglobin

ectopic pregnancy


Input: These results suggest that MOPs play an important facilitatory role in emotional responses to stress, including anxiety-and depression-like behavior and corticosterone levels.

MOP

depression

MOP

depression


Input: Forty Caucasian patients with extrahepatic CCA and 40 age-and sex-matched healthy white Caucasians were genotyped to elucidate putative associations between clinical outcome and genotypes of the three following SNPs: G protein beta 3 (GNB3) 825C > T, B-cell-lymphoma-2 (Bcl-2)-938C > A, and myeloid cell leukemia-1 (Mcl-1)-386C > G.

leukemia


Input: We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.

HEXB

Sandhoff disease

HEXB

Sandhoff disease


Input: These findings extend the body of evidence that mutations in CYLD are involved in Brooke-Spiegler syndrome and provide additional information for phenotype-genotype correlation.

CYLD

Brooke-Spiegler syndrome

CYLD

Brooke-Spiegler syndrome


Input: To investigate the prevalence of the microsatellite instability related to mismatch repair (MMR) gene defects using a panel of six microsatellite markers, as recommended by a recent workshop on microsatellite instability in colon cancer, because it is still unclear whether abnormalities in DNA MMR genes are involved in transitional cell carcinoma (TCC) of the bladder.

MMR

microsatellite instability


Input: NPY induced significant increases in food intake (75%), body weight (9%), plasma insulin (150%) and plasma leptin levels (300%) as compared to the i. c. v.

NPY

body weight


Input: Patients who had histological evidence of FL involving concurrent BM biopsy specimens had moderate to high levels of bcl-2/JH in both PB and BM aspirate samples, allowing unequivocal determination of translocation status (median bcl-2/JH to cyclophilin level was 8. 014%).

translocation


Input: Tumour cells formed the major source of VEGF expression, with a minor contribution from mononuclear cells in the tumour stroma and enhanced expression in tumour cells around necrotic regions.

VEGF

necrotic


Input: Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified.

Denys-Drash syndrome

Denys-Drash syndrome


Input: We investigated the association of FLG mutations with self-reported food allergy, symptoms of oral allergy syndrome (OAS), and alcohol sensitivity.

FLG

alcohol sensitivity

FLG

alcohol sensitivity


Input: Frequencies of methylated RASSF1A, CDH13, CACNA1A, HIN-1, and sFRP5 genes in OCCA tissues were significantly higher than those in non-OCCA cancerous tissues and benign endometriotic cysts.

cysts


Input: Correlating with this, high psoriasin expression in human IBC is associated with increased angiogenesis and worse clinical outcome, and psoriasin mRNA levels are coordinately regulated with VEGF and other genes related to hypoxia and mitochondrial reactive oxygen species (ROS).

VEGF

hypoxia


Input: To evaluate whether (a) Wnt5a expression in pancreatic cancer and malignant melanoma cells might be associated with constitutive levels of Toll-like receptor 3 (TLR3) and/or TLR3 signaling; (b) phenylmethimazole (C10), a novel TLR signaling inhibitor, could decrease constitutive Wnt5a and TLR3 levels together with cell growth and migration; and (c) the efficacy of C10 as a potential inhibitor of pancreatic cancer and malignant melanoma cell growth in vivo.

pancreatic cancer


Input: One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.

major depressive episode

major depressive episode


Input: The deletion of STOP/MAP6 protein in mice triggers highly altered mood and impaired cognitive performances.

altered mood

altered mood


Input: Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized.

FISH

asymptomatic


Input: Given the normal stability and lack of tendency to dissociation of the mutant enzyme, it appears likely that the dramatic reduction in the level of OTC protein is due to inefficient conversion of the mutant OTC precursor polypeptide (pOTC) into the correctly localized, appropriately folded, mature enzyme trimer, suggesting degradation of pOTC in transit to the mitochondria.

OTC

dissociation


Input: Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients with Sanfilippo syndrome type B from six unrelated families was carried out, and six disease-causing mutations were found.

alpha-N-acetylglucosaminidase

Sanfilippo syndrome type B

alpha-N-acetylglucosaminidase

Sanfilippo syndrome type B


Input: Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).

sporadic


Input: Three apoptosis-related genes (NOD2, DUSP1, and ADM) and 8 genes overexpressed in AD skin lesions (CCDC109B, CCL5, CCL8, IFI35, LYN, RAB31, IFITM1, and IFITM2) were induced by IFN-γ in primary keratinocytes.

skin lesions


Input: These results indicated that miR-483-5p might play an important role in reducing insulin resistance, and that miR-486-5p might promote cumulus cell proliferation through activation of PI3K/Akt.

insulin resistance


Input: Reduced PTEN expression relates to aggressiveness of bladder tumors but seems not to have enough specificity for clinical use in the management of superficial bladder cancer.

PTEN

aggressiveness


Input: Our objective was to study an allele carrying the variant * 13 G > A in the 3' UTR of the CYP21A2 gene identified in some patients with a mild form of NC-CAH in order to verify the possible implication of this variation with the phenotype observed.

CYP21A2 gene

mild


Input: Sox17 has emerged as an important factor in vascular remodeling because of the potential linkage with Wnt/β-catenin, Notch, and the inflammatory pathway.

β-catenin

vascular remodeling


Input: In summary, VEGF and Notch signaling pathway molecules were overexpressed in lung cancer, which positively correlates with hypoxia (HIF1a) and angiogenesis (CD31).

VEGF

hypoxia


Input: Characterization of the unique chromosomal translocation identified loss of p16 and upregulation of MDR-1 at protein level.

chromosomal translocation

chromosomal translocation


Input: This previously unreported rearrangement yields a fusion of RUNX1 with the antisense strand of the SV2B gene, a new translocation partner of RUNX1, resulting in the expression of out-of-frame mRNA chimeric transcripts and the production of putative truncated RUNX1 isoforms.

translocation


Input: CONCLUSIONS: SKA2 methylation may index a general propensity to experience stress-related psychopathology, including internalizing disorders and suicidal thoughts and behaviors.

suicidal thoughts


Input: Using mouse and human cell lines, we find that FTO levels are not influenced by serum starvation.

FTO

starvation


Input: In total, 14 cryptic chromosome rearrangements were detected, including a balanced t (2; 4) (p24. 3; q34. 3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN.

MYCN

translocation


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.

ERG

abnormalities


Input: Mutations in the genes coding for connexin 26 (Cx26), connexin 30 (Cx30), and connexin 31 (Cx31) are the main cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSNHL).

nonsyndromic sensorineural hearing loss


Input: The spectrum of abnormalities observed in th (tk-)/th (tk-) mice and the ability of AAPD to correct the behavioral deficits consistent with human psychosis suggests that midbrain 5-HT2A-controlling systems are important loci of therapeutic action.

abnormalities


Input: Reactivity on RIBA-2 or-3, greater age, mean ALT levels in the upper range of normal, higher S: CO ratio on second-generation enzyme-linked immunosorbent assay, and higher gamma globulin levels were predictive of viremia.

RIBA

viremia


Input: In accordance, PARP inhibition may prove beneficial not only in preventing atherogenesis but also in promoting regression of preexisting plaques.

PARP

regression


Input: TrkB and BDNF expression might play a significant role in the early events in tumorigenesis of cervical SCC.

BDNF

tumorigenesis


Input: Here, we demonstrate that diverse RNA viruses trigger exportin 1 (XPO1/CRM1)-dependent Drosha translocation into the cytoplasm in a manner independent of de novo protein synthesis or the canonical type I IFN system.

Drosha

translocation


Input: Activation of PAR-1 leads to cell signaling and up-regulation of genes involved in adhesion, invasion, and angiogenesis.

adhesion


Input: Hepatocyte nuclear factor 1 (HNF1) is a transcription factor involved in the regulation of a large set of hepatic genes, including albumin, beta-fibrinogen, and alpha1-antitrypsin.

fibrinogen


Input: These novel transgenic mice develop many age-related pathological and biochemical changes reminiscent of human amyotrophic lateral sclerosis including ubiquitinated transactive response DNA-binding protein 43-positive inclusions, transactive response DNA-binding protein 43 cleavage fragments, intermediate filament abnormalities, axonopathy and neuroinflammation.

DNA-binding protein

amyotrophic lateral sclerosis


Input: These data support the role of DCs in differential regulation of CCR3 and CCR4 on CD4 + T cells from HDM-sensitive and non-atopic asthmatics after Der p 1 exposure.

atopic


Input: Low Cav-1 expression was associated with features of plaque instability such as large lipid core, thrombus formation, macrophage infiltration, high IL-6, IL-8 levels and elevated MMP-9 activity.

plaque


Input: Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.

bipolar affective disorder

bipolar affective disorder


Input: Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.

heart defect


Input: We found a statistically significant increase in proepithelin messenger RNA expression in bladder cancers vis-à-vis non-neoplastic tissues, and this was associated with pathologic and prognostic parameters.

proepithelin

non-neoplastic


Input: Surprisingly, MK2 played only a minor role in skin inflammation, indicating that modulation of cell signaling gives different results depending on the models of inflammation and target organs that are studied.

skin inflammation


Input: Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

Fas

autoimmune lymphoproliferative syndrome

Fas

autoimmune lymphoproliferative syndrome


Input: UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Schnyder corneal dystrophy

Schnyder corneal dystrophy


Input: Expression and biological function of N-myc down-regulated gene 1 in human cervical cancer.

N-myc

cervical cancer


Input: Significant clinical correlates of MCP-1 levels were age, cigarette smoking, triglycerides, body mass index, and waist-to-hip ratio.

waist-to-hip ratio


Input: In summary, we identify a novel pathogenic role for KLF11 in preventing de novo disease-associated fibrosis in endometriosis.

fibrosis


Input: We then examined expression of menin, caspase 8 and cyclin-dependent kinase inhibitors p27 (Kip1) and p15 (Ink4b) by Western blotting in human parathyroid tumors surgically resected from patients with MEN1 and those with non-hereditary primary hyperparathyroidism.

primary hyperparathyroidism


Input: We will discuss how and under what circumstances oncogenes and epigenetic factors modify CLU expression, with important consequences for mammalian tumorigenesis.

CLU

tumorigenesis


Input: Following the release of Huh7 cells from serum starvation, the expression of TFIIB was upregulated.

starvation


Input: Glioblastoma multiforme expressed higher levels of Angl, but not to the same degree as pseudopalisading astrocytoma cells around necrotic and hypoxic zones expressed VEGF, as shown in previous studies.

VEGF

necrotic


Input: These phenotypes support partial penetrance, variable polydactyly, midline facial defects, and pituitary hormone deficiencies, including diabetes insipidus, conferred by heterozygous frameshift or nonsense GLI2 mutations.

diabetes insipidus


Input: Expression of VEGF and regulation by hypoxia were assessed in three human HCC cell lines using a quantitative competitive reverse transcription-polymerase chain reaction, ELISA, and a series of 5' deletion reporter gene constructs of the human VEGF promoter in transient transfection assays.

VEGF

hypoxia


Input: Nephritic factors are autoantibodies that bind to the C3b-dependent convertase and render it resistant to dissociation by factor H. Although nephritic factors are currently considered epiphenomena, their role in the pathogenesis of membranoproliferative glomerulonephritis should be reconsidered based on the evidence that circulating convertase is nephritogenic.

factor H

dissociation


Input: Therefore, this study examines the effect of SP on capsaicin-induced mucosal hyperemia and mast cells.

SP

hyperemia

SP

hyperemia


Input: RESULTS: Immunohistochemistry showed FAK overexpression was significantly associated with positive lymph node metastasis and more advanced disease stage of NSCLCs and adenocarcinoma subtype; real-time PCR also indicated a statistically significant correlation between increased FAK mRNA level and the presence of nodal metastases.

FAK

lymph node metastasis


Input: This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6.

dystonia 6

dystonia 6


Input: CMM reflect dysfunctions and structural abnormalities of the motor network and are mainly inherited in an autosomal-dominant fashion.

CMM

abnormalities


Input: Taken together with the findings in our recent report we determined the responsible mutations in a total of 7 Japanese patients with USS with a uniform clinical picture of severe neonatal hyperbilirubinemia, and in their family members, based on ADAMTS13 gene analysis.

USS

USS


Input: The study aim was to investigate NOS3 VNTR, NOS3 G894T, EDN1 C8002T, ACE I/D, AGT M235T and AGTR1 A1166C in nonobese and obese T2DM patients, and their interaction with the incidence of microangiopathy.

microangiopathy


Input: The mean value of the last 6 months' monthly evaluated laboratory values (C-reactive protein, hemoglobin, iron indices, PTH, and albumin) and clinical findings (rHuEPO requirement, cumulative iron supplementation doses, and body weight) were analyzed retrospectively excluding patients with chronic inflammation, hemolytic anemia, or active blood loss such as gastrointestinal bleeding.

PTH

gastrointestinal bleeding


Input: Hypoxia-induced recruitment of α (6) β (4) toward raft-located C4. 4A, MT1-MMP, and TACE allows for a shift from adhesion to motility, which is supported by laminin degradation.

TACE

adhesion


Input: Present results indicate that SHOX plays an important role also in short stature of unknown cause, and FISH analysis appears as an easy, appropriate, and inexpensive method for the detection of SHOX deletion.

FISH

short stature


Input: Polymorphisms in both N-acetyltransferase genes, NAT1 and NAT2, have been associated with an increased risk of colorectal tumors.

colorectal tumors


Input: TRAIL deficiency and MID1 silencing with small interfering RNA reduced esophageal eosinophil and mast cell numbers and protected against esophageal circumference enlargement, muscularis externa thickening, and collagen deposition.

TRAIL

enlargement


Input: The aim of the study was to investigate the distribution of C-60G polymorphism of HSL gene and alleles in fertile and infertile males living in Hamadan, Iran.

HSL

infertile


Input: The effect of CHOP on the translocation and sequestration of Bcl-2 in the nucleus, which requires the binding of Bcl-2 to ASPP2, is also critical for ASPP2-induced autophagic apoptosis.

translocation


Input: Each proband with fundus albipunctatus in two families (family A' s case was atypical with sectorial retinitis pigmentosa, while family B' s case was typical), and 2 obligate carriers underwent molecular analysis of their RDH5 gene.

B' s

retinitis pigmentosa


Input: Increased levels of the lysosomal marker LAMP1 was detected in FAD and CBD, and in addition Cathepsin D was diffusely spread in the cytoplasm in all tauopathies suggesting an impaired lysosomal integrity.

FAD

tauopathies


Input: In the second case, a resected pulmonary metastasis had the karyotype 43-47, XX, + mar1, + mar2 [6]/43-46, XX, + del (7) (p10) [3], + mar2 [1] [cp3]/46, XX [10].

pulmonary metastasis


Input: ], which all bound HLA-A2. 1 with high (IC50 < 50 nM) affinity, were able to sensitize HLA-A2 + C1R/A2 cells to be recognized by the gastric cancer-specific CTLs, demonstrating the immunodominance of these epitopes.

gastric cancer


Input: We examined the expression of rck/p54 in 29 cases of HCV-related chronic hepatitis and eight cases of hepatocellular carcinoma by immunohistochemistry and Western blot analysis.

chronic hepatitis


Input: ETV6-JAK2, PCM1-JAK2, BCR-JAK2) mutations have respectively been described in acute megakaryocytic leukemia and acute leukemia/chronic myeloid malignancies.

BCR

acute megakaryocytic leukemia


Input: The etiology of chronic idiopathic urticaria (CIU) is attributed to autoantibodies directed against the alpha-chain of the high-affinity IgE receptor (FcepsilonRIalpha) or IgE on mast cells in 30-60% of patients.

alpha-chain

chronic idiopathic urticaria


Input: White blood cells, IL-6, hsCRP, and ESR were positively correlated with the neurological deficit of the patients (p < 0. 05).

neurological deficit


Input: In newly diagnosed APL patients, Gli2 expression was significantly positively correlated with Gli1 (R = 0. 57, p & lt; 0. 001) and Smo (R = 0. 56, p & lt; 0. 001) and the expression of Hh pathway components was significantly higher in the high WBC group (p & lt; 0. 05).

APL

APL


Input: IkappaBalphaM suppressed the expression of hypoxia-induced HIF-1alpha gene in vivo, but hypoxic stress induced the expression of COX-2 after 72 h. VEGF induction followed after 96 h of hypoxia in IN500deltaM cells.

VEGF

hypoxia


Input: Patients were screened for: germline allele-specific expression (ASE), nucleotide variants, rearrangements and promoter methylation of mismatch repair (MMR) genes; germline EPCAM rearrangements; tumor microsatellite instability (MSI) and immunohistochemical (IHC) MMR protein expression.

MMR

microsatellite instability


Input: These results suggest that osteoclastic ClC7 Cl (-) channels are activated under extracellar acidification and suppressed in Clcn7 mutant associated with ADO II during bone resorption.

bone resorption


Input: Instead, we identified several indications of autophagy: electron microscopy showed typical autophagic vacuoles; acridine orange staining revealed acidic vesicular organelles; acidification of acidic vesicular organelles was prevented using bafilomycin A1; cells displayed arrest in G2/M; increased processing of LC3 occurred; vacuolation was prevented by the autophagy inhibitor 3-methyladenine; no caspase activation was detected.

autophagic vacuoles


Input: The objective of the investigation was to assess whether circulating adhesion molecules, von Willebrand factor (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of hypertension.

von Willebrand factor

essential hypertension


Input: The expression of p53, p16 and RB proteins and their clinicopathologic correlation were investigated in 15 cases of primary gastric adenosquamous carcinoma and 2 cases of squamous cell carcinoma of the stomach.

gastric adenosquamous carcinoma


Input: The Glu298Asp polymorphism of the NOS3 may modulate angiogenesis and influence individual susceptibility to endometriosis.

endometriosis


Input: We analyzed its expression at protein, mRNA, and cellular levels using autopsy, biopsy, or operation LV samples from patients with failing hearts caused by acute (AMI) or old (OMI) myocardial infarction and idiopathic dilated cardiomyopathy (DCM) and also examined functional biochemical responses of failing hearts to Ang II.

OMI

myocardial infarction


Input: In conclusion, PLD1 and PLD2 expressions were strongly enhanced both in rat and human heart hypertrophy, which may be responsible for the coincident potentiation of the PLD activation by alpha-adrenoceptor and protein kinase C stimulation.

heart hypertrophy

heart hypertrophy


Input: Recently, three (-243 A > G, + 61450 C > A, and + 83897 T > A) single nucleotide polymorphisms (SNPs) within glutamate decarboxylase 2 (GAD2) were found to be associated with class III obesity (body mass index > 40 kg/m2).

body mass index


Input: K (ATP) channel (Kir6. 2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM.

abnormalities


Input: We previously showed that FABP7 is associated with schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: Tissue microarray analysis of NIK expression reveals that dysplastic nevi (n = 22), primary (n = 15) and metastatic melanoma (n = 13) lesions showed a statistically significant elevation in NIK expression when compared with benign nevi (n = 30).

NIK

nevi


Input: New translocations in a case of atypical B-cell chronic lymphocytic leukemia: involvement of ATM, MLL, and TP53 genes.

B-cell chronic lymphocytic leukemia

B-cell chronic lymphocytic leukemia


Input: Herein, two mutations of the Toll-like receptor (TLR)-4 gene (Asp299Gly and Thr399Ile) resulting in impaired lipopolysaccharide signaling, the-159C/T promotor polymorphism of the CD14 gene, polymorphisms of the lipopolysaccharide binding protein gene and the bactericidal permeability increasing protein gene were evaluated in 102 patients with Crohn' s disease, 98 patients with ulcerative colitis and 145 healthy controls.

lipopolysaccharide binding protein gene

ulcerative colitis


Input: Engrafted MSC survival and localization of TNF-alpha protein in infarction myocardium were evaluated.

MSC

infarction


Input: The expression of VEGF mRNA was significantly higher in epithelial cells of NP than in IT exposed to pro-inflammatory cytokines or hypoxia (P < 0. 01).

VEGF

hypoxia


Input: Associations between polymorphisms and UAT cancer were assessed by odds ratios and 95% confidence intervals using conditional logistic regression models that adjusted for age, sex, smoking, drinking, and ALDH2.

smoking


Input: The t (8; 21) (q22; q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases, generates the AML1/ETO fusion protein.

translocation


Input: The transcription rate of the MAT2A gene remained unchanged during l-methionine starvation; however, its mRNA half-life was significantly increased (from 100 min to more than 3 h).

MAT2A gene

starvation


Input: While in vitro, following release from serum starvation of HuH7 HCC cell, the expression of Nek6 was upregulated.

starvation


Input: This study evaluated three mononucleotide microsatellites, BAT-25, BAT-26 and BAT-40 (a polymorphic mononucleotide microsatellite) in RER + acute myeloid leukaemia (AML).

RER

acute myeloid leukaemia


Input: These results suggest expression of TGF-alpha and its localization might be linked to cell proliferation and play a role in malignant progression of mouse HBs.

TGF-alpha

HB

TGF-alpha

HB


Input: A total of 113 subjects from 88 families (56 with familial DCM (FDC) and 32 with sporadic DCM) were screened for LAP2 mutations using denaturing high-performance liquid chromatography and sequence analysis.

FDC

FDC


Input: Our aim was to investigate the influence of genetic variants in CRHR1, CRHR2, CRH-BP and FKBP5 genes on both the vulnerability for depression and the response to antidepressant treatment.

CRH-BP

depression

CRH-BP

depression


Input: One healthy individual with homozygous plg gene polymorphism 504W studied so far exhibited low normal plg antigen and slightly decreased plg activity, suggesting that this polymorphism is associated with (mild) hypoplasminogenemia.

plg gene

mild


Input: Unlike sporadic MSI-H CRCs, MSI-H IBD-Ns presented with heterogeneous mismatch repair defects involving MLH1, MSH2, MSH6, or PMS2, and a low frequency of MLH1 promoter methylation.

sporadic


Input: Mutation screening of RYR1 has led to the identification of two previously undescribed mutations in different CCD pedigrees.

CCD

CCD


Input: Here we demonstrate that TBX2 is a strong cell-autonomous inducer of the epithelial-mesenchymal transition (EMT), a latent morphogenetic program that is key to tumor progression from noninvasive to invasive malignant states.

EMT

tumor progression


Input: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

15-hydroxyprostaglandin dehydrogenase

primary hypertrophic osteoarthropathy

15-hydroxyprostaglandin dehydrogenase

primary hypertrophic osteoarthropathy


Input: A greater understanding of the host immune response to MAC organisms will provide a foundation to develop novel therapies for these recalcitrant infections.

MAC

infections


Input: Association of granulomatosis with polyangiitis (Wegener' s) with HLA-DPB1 * 04 and SEMA6A gene variants: evidence from genome-wide analysis.

granulomatosis with polyangiitis

granulomatosis with polyangiitis


Input: The median plasma concentration of c split product of C3 (C3c) in normals was 2 mg X 1 (-1), in patients with Crohn' s disease 20 mg X 1 (-1) and in patients with ulcerative colitis 3 mg X 1 (-1).

ulcerative colitis


Input: This work is the first to generate MsrB3 knockout mice to elucidate the possible pathological mechanisms of hearing loss observed in DFNB74 patients.


Input: Nonmuscle myosin IIA is associated with poor prognosis of esophageal squamous cancer.

Nonmuscle myosin IIA

esophageal


Input: Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.

sporadic


Input: Moreover, hypoxia triggered a significant decrease of Notch 1 and Notch 2 mRNA and protein expression, with subsequent downregulation of Notch-mediated signaling, as shown by reduced levels of the Notch target genes, Hes1 and Hey1.

hypoxia


Input: It is characterized by the presence of both an activating MYC chromosomal translocation and a simultaneous additional oncogenic translocation, often of the BCL2 gene.

BCL2 gene

translocation


Input: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

ASIP

sporadic


Input: We propose that HRH1, NRP2, and STX1A can be used as prognostic biomarkers and therapeutic targets for basal and HER2-enriched breast cancer subtypes.

breast cancer


Input: Gender-specific role of the protein tyrosine phosphatase receptor type R gene in major depressive disorder.

protein tyrosine phosphatase receptor type R

major depressive disorder

protein tyrosine phosphatase receptor type R

major depressive disorder


Input: Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

leukoencephalopathy with vanishing white matter

leukoencephalopathy with vanishing white matter


Input: The aim of this study was to investigate the biological actions regulated by leptin, the obesity biomarker molecule, and its receptors in HCC and the correlation between leptin and human telomerase reverse transcriptase (hTERT), a known mediator of cellular immortalization.

telomerase reverse transcriptase

obesity


Input: Serum fasting blood sugar, total cholesterol and triglycerides levels, urinary excretion of sodium, immunoreactive fasting insulin, plasma ANF levels, plasma renin activity (PRA), plasma aldosterone level, plasma adrenaline and noradrenaline levels and echocardiographic total left ventricular mass (LVM) and LVM: height ratio were also calculated.

PRA

height


Input: We analyzed the involvement of Hh-interacting protein (HHIP) gene, a negative regulator of Hh signaling, in HCC.

HHIP

HCC

HHIP

HCC


Input: In single-marker-based analysis, the DRD2 rs4436578-C homozygous genotype was found to be associated with a significantly increased risk of BWG [P = 0. 001, adjusted odds ratio = 3. 36 (95% confidence interval = 1. 62-7. 00)].

BWG

BWG


Input: We report that RalA is activated in several human melanoma cancer cell lines harboring an oncogenic NRAS allele, an oncogenic BRAF allele or wild-type NRAS and BRAF alleles.

RalA

melanoma


Input: The study of 230 diabetic mothers along with their newborn babies has shown that foetal macrosomia is associated with two specific genomic sites: phosphoglucomutase locus 1 (PGM1)-Rhesus blood group (Rh) linkage group (chromosome 1) and HindIII restriction fragment length polymorphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromosome 12).

foetal macrosomia


Input: The aims of this work were to determine whether chronic obstructive sleep apnea (OSA) induces an atrial pro-arrhythmogenic substrate and to explore whether mesenchymal stem cells (MSC) are able to prevent it in a rat model of OSA.

MSC

obstructive sleep apnea


Input: Immunohistochemical analysis detected LIPH expression in most of the adenocarcinomas and bronchioloalveolar carcinomas tissue sections obtained from lung cancer patients.

LIPH

lung cancer


Input: Synergistic effect of polymorphisms in uncoupling protein 1 and beta3-adrenergic receptor genes on long-term body weight change in Finnish type 2 diabetic and non-diabetic control subjects.

body weight change


Input: The Xp; Yp translocation occurred within an 87-bp homologous segment of PRKX and PRKY in case 2, and between non-homologous regions with addition of an 18-bp sequence of unknown origin in case 4.

PRKX

translocation


Input: In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence.

alcohol dependence

alcohol dependence


Input: Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t (8; 19) (p12; q13. 3).

myeloproliferative disorder


Input: Remarkably, a single conserved LDHA exon 5 haplotype conferred increased risk for a paradoxical ventilatory response pattern to CO (2) inhalation which robustly separated well subjects at high risk for PD from low-risk control subjects.

LDHA

inhalation


Input: We previously found that a long non-coding RNA, the plasmacytoma variant translocation 1 (PVT1), increases plasminogen activator inhibitor 1 (PAI-1) and transforming growth factor beta 1 (TGF-β1) in mesangial cells, the two main contributors to ECM accumulation in the glomeruli under hyperglycemic conditions, as well as fibronectin 1 (FN1), a major ECM component.

ECM

translocation


Input: Discontinuation of this treatment resulted in worsening of the ataxia, cognitive decline, and severe depression. The older sister, who is 32 years old, has nonprogressive dysarthria and clumsiness from the age of 10 years and MRI reveals cerebellar atrophy. Exome sequencing identified compound heterozygosity for a known (p. Thr584delACC (c. 1750_1752delACC)) and a novel (p. P502R) mutation in the ACDK3 gene.

MRI

clumsiness


Input: PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level.

BDNF

seizure

BDNF

seizure


Input: Adenoviral gene transfer of uteroglobin, delivered intraluminally after arterial injury causes the production of uteroglobin protein and has an inhibitory effect on neointimal accumulation in the rat model.

uteroglobin

arterial injury


Input: " Severe AKI " had higher levels of plasma IL-10, MIF and IL-6 compared to " no AKI " and mild AKI (p < 0. 05 for each), with no difference in mHLA-DR at day 0.

MIF

mild


Input: We examined whether two GPR10 polymorphisms (G-62A and C914T) modify the association between PAEE and blood pressure in the MRC Ely study (N = 687).

blood pressure


Input: Previously we have shown that CREB (alphaDelta) mutant mice in a mixed genetic background show attenuated signs of physical dependence, as measured by the classic signs of withdrawal.

CREB

physical dependence


Input: We investigated the activity and expression of MMP-9 and-2 in ethanol-induced acute gastric ulceration in rats.

gastric ulceration

gastric ulceration


Input: In this study, the authors examine the expression of HIF-1alpha and VEGF in meningiomas, with a special emphasis on conditions of hypoxia, such as preoperative embolization, and on in vitro studies in cultured cells.

VEGF

hypoxia


Input: Monoamine oxidase A and B (MAOA and MAOB) appear to be involved in the pathogenesis of Major Depression, and vulnerability of Major Depression is associated with personality traits relating to positive and negative affect.

MAOB

personality traits


Input: GST profiling may be useful in the screening for thyroid nodule malignancy.

GST

nodule


Input: The expression of the VPF/VEGF receptor Flt-1 was selectively induced on dermal microvessels in skin explant cultures and in dermal endothelial cell monolayer cultures under hypoxic conditions.

VPF

hypoxic


Input: Immunoblot analysis of XPA proteins revealed that a typical group-A XP patient showed no XPA protein band, while a smaller, truncated XPA protein, which appears to be responsible for mid skin lesions and minimal neurological abnormalities, was detected in cells from three atypical group-A XP patients.

XPA

abnormalities


Input: Although the importance of microsatellite instability (MSI) and mismatch repair genes (MMR) is strongly established in colorectal cancer seen in the Lynch syndrome, its significance has not been fully established in Wilms tumor (WT).

MMR

microsatellite instability


Input: Accordingly, cisplatin and temsirolimus exerted synergistic inhibition of the mTOR downstream signals and enhanced growth inhibition and/or apoptosis induction in mesothelioma cell lines.

mTOR

mesothelioma

mTOR

mesothelioma


Input: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

BAAT

familial hypercholanemia

BAAT

familial hypercholanemia


Input: Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Propranolol dose-dependently reduced upregulated VEGF and decreased hypoxic levels of IGF-1 mRNA and HIF-1α.

VEGF

hypoxic


Input: The presence of the complement-derived anaphylatoxin peptides, C3a and C5a, in the lung can induce respiratory distress characterized by contraction of the smooth muscle walls in bronchioles and pulmonary arteries and aggregation of platelets and leukocytes in pulmonary vessels.

respiratory distress


Input: Finally, we also noted differential overexpression of several neural-or neuroectodermal-associated genes in synovial sarcomas relative to the comparison sarcoma group, including OLFM1, TLE2, CNTNAP1, and DRPLA.

sarcoma


Input: The relationship with the TT genotype was stronger in white patients with nonatopic asthma (OR = 4. 4 [95% CI = 1. 3-14. 8]) and patients with food allergy (OR = 5. 1 [95% CI = 1. 6-16. 2]), even adjusting for sex differences (OR = 3. 9 [95% CI = 1. 1-13. 5] and OR = 4. 6 [95% CI = 1. 4-14. 8], respectively).

asthma


Input: Recently, similar biochemical characteristics of HLA-B27 were reported in cells from HLA-B27/human beta2-microglobulin transgenic (HLA-B27 transgenic) rats, an animal model of spondyloarthritis, and correlated with disease susceptibility.

spondyloarthritis


Input: Ginkgolide B significantly reduced atherosclerotic lesions and P-selectin, PF4, RANTES, and CD40L expression in aortic plaque in ApoE-/-mice.

plaque


Input: In conclusion, HO-1 expression was distributed in overall human coronary atherosclerotic lesions, particularly in diabetic subjects, indicating that HO-1 expression is intimately associated with atherogenesis and may play an important role as an adaptive molecule in the inflammatory-repair process.

atherogenesis


Input: Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene.

arginine vasopressin

uropathy


Input: Rapid and similar change was present for all 3 cognitive measures in patients with dementia and in those with normal cognition and those with MCI who progressed clinically.

MCI

normal cognition


Input: Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.

Waardenburg syndrome type 1

Waardenburg syndrome type 1


Input: 223 incident papillary thyroid cancer cases and 513 controls recruited from Saudi Arabian population were analyzed for the association between polymorphisms in genes encoding folic acid metabolizing enzymes MTHFR and six xenobiotics-metabolizing enzymes including CYP1A1 T3801C, C4887A, GSTP1 A1578G, C2293T, GSTM1, GSTT1, NAT2 G590A, NQO * 1 C609T, using PCR-RELP.

papillary thyroid cancer


Input: GSPE treatment significantly attenuated the development of autoimmune arthritis in obese CIA model.

CIA

autoimmune arthritis


Input: Thus, Smac would sensitize tumor cells to chemotherapeutic drugs in part through promoting Bax translocation to mitochondria and bypassing Bcl-2 block.

translocation


Input: The protein expression of ERK1/2, zinc fifi nger E-box-binding homeobox 1 (ZEB1), Scrib and lethal giant larvae homolog 2 (Lgl2) was detected by Western blotting while the relative mRNA quantity of E-cadherin, N-cadherin, Occludin and junctional adhesion molecule-1 (JAM1) was measured by realtime fluorescent quantitative polymerase chain reaction (RT-qPCR).

N-cadherin

giant


Input: Also, patients with the MCP-1 and CCR-2 mutated alleles were more likely to continue to have an undetectable viral load following treatment (P = 0. 05).

viral load


Input: Indeed, PEA3 coupled with the liposome SN2 demonstrated therapeutic effects in mice bearing tumors induced by BT474M1.

tumors


Input: STAT3 is involved in esophageal carcinogenesis through regulation of Oct-1.

esophageal


Input: The high blood pressure of the Cx40 knockout mice was significantly reduced when Cx45 was knocked into the locus but remained mildly elevated compared to wild-type mice.

high blood pressure

high blood pressure


Input: The levels of retinal VEGF mRNA expression followed the hypoxia-induced pattern determined previously by conventional methods.

VEGF

hypoxia


Input: The modifying effect of GSTO2 * G/G genotype on individual susceptibility to TCC is more pronounced, when associated with smoking.

smoking


Input: Both genes involved, translocation ets like gene (or ETV6) on chromosome 12 and acute myeloid leukemia 1 gene (or CBF alpha) on chromosome 21 had been identified for several years previously, which facilitated the rapid development of molecular diagnostic assays and their implementation in therapy trials.

acute myeloid leukemia 1 gene

translocation


Input: Rapid acetylator NAT2 phenotype increased the risk of both T-cell lymphoma (OR = 3. 2; 95% CI: 1. 1-9. 5) and marginal zone lymphoma (OR = 3. 0; 95% CI: 1. 0-8. 7), though these results were based on a small number of cases.

marginal zone lymphoma


Input: Studies with neuroblastoma cells have indicated the presence of a hypoxia-driven vascular endothelial growth factor (VEGF)/VEGF receptor (VEGFR)-1 autocrine loop modulating hypoxia-inducible factor-1alpha (HIF-1alpha).

VEGF

hypoxia


Input: Integrin-linked kinase expression is elevated in human cardiac hypertrophy and induces hypertrophy in transgenic mice.

Integrin-linked kinase

cardiac hypertrophy


Input: Analyses of LD patient mutations define the mechanism by which subsets of mutations disrupt laforin function.

laforin

LD

laforin

LD


Input: In 21 of 28 (75%) cervical cancer cases, the lumican protein was strongly expressed in cancer cells, and accumulated particularly in cancer cells at the periphery of the cancer nests.

lumican

cervical cancer


Input: In contrast to AD, different CCL checkpoint proteins, which include p53, CHEK1 and BRCA1 were significantly downregulated in SZ.

SZ

SZ


Input: EBV has been reported to upregulate bcl-2 expression, but in this study the presence of bcl-2 protein did not correlate with the presence of the t (14; 18) translocation or EBV-LMP.

translocation


Input: Variants in IRF4 and SLC24A4, despite being strongly associated with pigmentation in our sample, did not modify CMM risk, but the other six did.

CMM

pigmentation


Input: The highest TGFBR16A allelic frequency was found among MMR-negative patients with tumors exhibiting no microsatellite instability (0. 211), and the lowest frequency was found among MMR-positive patients with tumors exhibiting microsatellite instability (0. 121); the difference was not statistically significant (P =. 17).

MMR

microsatellite instability


Input: Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.

Bladder Cancer

Bladder Cancer


Input: In the sporadic form, the HM phenotype is driven by an abnormal ratio of paternal to maternal genomes, whereas in the recurrent form, the HM phenotype is caused by maternal-recessive mutations, mostly in NLRP7, despite the diploid biparental origin of the HM tissues.

sporadic


Input: Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A.

benign familial neonatal-infantile seizures

benign familial neonatal-infantile seizures


Input: An increased frequency of adverse pregnancy outcome, including pregnancy loss, intrauterine growth restriction, and premature labor, has been observed in association with confined placental mosaicism (CPM), which is characterized by a discrepancy between the karyotype of the fetus and placenta.

CPM

premature labor


Input: Pulmonary hypertension (PH) is associated with reduced PPARγ expression, and hypoxia exposure regimens that cause PH reduce PPARγ expression.

PPARγ

hypoxia


Input: To our knowledge this is the first report to implicate DOCK9 or the Rho-GTPase pathway in the etiology of bipolar disorder.

bipolar disorder

bipolar disorder


Input: Importantly, sustained activation of TLR3/TLR4 due to environmental factors including infection and stress has been found to generate excessive reactive oxygen species (ROS)/reactive nitrogen species (RNS) as well as pro-inflammatory mediators during embryogenesis, which result into neuronal damage by necrosis/apoptosis.

necrosis


Input: We found significant loss of MMR proteins (known to be associated with microsatellite instability) in the stromal component of ETs.

MMR

microsatellite instability


Input: In the present report, using recombinant adenovirus encoding the wild-type or a dominant negative form of MITF, as well as stable cell lines expressing tetracycline inducible wild-type MITF, we reassessed the role of MITF in melanocyte differentiation and in the regulation of melanin synthesis.

MITF

adenovirus


Input: These results show that miR-145 suppresses Ets1 expression via the binding site in the 3'-UTR, thus inhibiting the invasion, metastasis, and angiogenesis of gastric cancer cells.

UTR

metastasis


Input: Gamma-aminobutyric acid transporter 1 negatively regulates T cell-mediated immune responses and ameliorates autoimmune inflammation in the CNS.

Gamma-aminobutyric acid transporter

inflammation


Input: NAGT, MIF1 and MIF2 do not alter the severity of kala-azar.

kala-azar


Input: Both leptin (LEP) and leptin receptor (LEPR) are important in the regulation of body weight.

LEPR

body weight


Input: Immunohistochemical staining of human carotid atherosclerotic plaques revealed a high-level expression of TL1A in regions rich in macrophage/foam cells.

foam cells


Input: Thus, SIVA enables tumorigenesis in a p53-independent manner, revealing a potential new cancer therapy target.

SIVA

tumorigenesis


Input: On the contrary our study demonstrated the specific association of HCV-4 with PKR expressed in hepatocellular carcinoma (HCC) tissues, leading to an increased gene expression of the kinase in comparison to chronic hepatitis tissues.

PKR

chronic hepatitis


Input: Topotecan counteracted hypoxic induction of VEGF and decreased angiogenic activity of conditioned medium from hypoxic cultures in vivo in the chick chorioallantoic membrane.

VEGF

hypoxic


Input: The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia.

GRN

extrapyramidal disorder


Input: In non-progressive cells, low levels of p53 were found by FACS, none was positive in the PAb240 ELISA and only one case showed a weak proliferative response to SAC/IL-2.

non-progressive


Input: Whereas Ldlr (-/-) Apobec1 (-/-) mice fed a western-type diet and injected with a control AAV8. null vector experienced a further 65% progression in atherosclerosis over 2 months compared with baseline mice, Ldlr (-/-) Apobec1 (-/-) mice treated with AAV8. mLDLR realized an 87% regression of atherosclerotic lesions after 3 months compared to baseline mice.

regression


Input: These results suggest that beta2-containing nAChRs are involved in the affective signs of nicotine withdrawal, whereas non-beta2-containing nAChRs are more closely associated with physical signs of nicotine withdrawal; thus, the nAChR subtype composition may play an important role in the involvement of specific subtypes in nicotine withdrawal.

nicotine withdrawal


Input: These data support the existence of a key molecular switching mechanism triggered by blocking peripheral CRF receptors with an antagonist to reset hair growth in a mouse model of alopecia associated with chronic stress.

CRF

alopecia

CRF

alopecia


Input: Our screening of 5q31-32 implicates three potential candidate genes for SZ: SMAD5, TGFBI and SPRY4.

SZ

SZ


Input: RAGE, CML, S100A12, and S100B immunoreactivity was observed in all sarcoid granulomas, although at different intensities.

sarcoid


Input: However, the majority of CD26-expressing cases clustered in the lymphoblastic lymphomas (LBL)/T-acute lymphoblastic leukemias (ALL; 12/23) and CD30 + anaplastic large-cell (ALC) lymphomas (5/8), whereas CD40L + lymphomas included a large fraction of mycosis fungoides (11/21 [52%]).

ALC

mycosis fungoides


Input: Male variant carriers (VCs) of the IGF-I promoter polymorphism had a 0. 2 kg lower birth weight than men with the wild type allele (p = 0. 009).

IGF-I

birth weight


Input: These findings confirm the importance of genetic factors in body weight change induced by long-term clozapine treatment in patients with schizophrenia, and indicate a role for the G protein beta3 subunit in body weight regulation during long-term clozapine treatment.

body weight change


Input: Angiogenic therapy with the vascular endothelial growth factor (VEGF) is a promising strategy to overcome hypoxia and its consequences.

VEGF

hypoxia


Input: Furthermore, the mean plasma PTH concentration was within the normal range in eight of 11 studied mutations, but mild to moderately elevated in families with the mutations p. C582Y, p. C582F, and p. G553R.

PTH

mild


Input: Overexpression of miR-145 dose-dependently down-regulated YTHDF2 expression in HCC cells at the levels of both mRNA and protein.

HCC

HCC


Input: Cell-free DNA was isolated from 1 ml serum from patients with bladder cancer (BCA, n = 84), renal cell carcinoma (RCC, n = 33), and prostate cancer (CaP, n = 23), and compared with healthy individuals (n = 79).

BCA

renal cell carcinoma


Input: The biologic characteristics of the two human giant-cell lung carcinoma strains with high (strain D) and low metastatic potential (strain C) were studied, including karyotype of chromosome, intracellular free calcium ([Ca2 +] i), morphologic changes of cell surface and the expression of nm23-H1, p53, ras, c-myc, c-erbB2, bcl-2 genes and PCNA.

giant


Input: To investigate whether vascular endothelial growth factor (VEGF) gene 5'-UTR-460 polymorphism could be used as a marker of susceptibility to endometriosis.

UTR

endometriosis


Input: In this study we show that human melanoma cells with different metastatic potency, which do not express beta2 or beta3 integrins, express the VCAM-1 receptor alpha4beta1.

melanoma


Input: Epidemics of WEE, EEE, VEE, and SLE viruses have been recorded at periodic intervals, but prevalence of infections with LAC and CTF viruses typically are constant, related to the degree of exposure to infected vectors.

LAC

infections


Input: GFAP mutations were identified in 95. 46% of Chinese children with clinically diagnosed type I AxD.

GFAP

AxD

GFAP

AxD


Input: Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone.

pituitary hormone deficiency


Input: On calculating the ratios of these elevated cytokines to IL-10, however, only IL-12p70/IL-10 and TNF-alpha/IL-10 ratios were significantly elevated under hypothermic conditions.

TNF

hypothermic

TNF

hypothermic


Input: In each, there was an identical band corresponding to the minor cluster region breakpoint of the bcl-2 oncogene, indicating the presence of a 14; 18 translocation.

translocation


Input: Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer' s disease.

Cholesterol 25-hydroxylase

sporadic