Input: Based on these data we hypothesize that DCD may play a role in tumorigenesis by means of enhancing cell growth and survival in a subset of breast carcinomas.

DCD

tumorigenesis


Input: The differential diagnoses of SC include acinic cell carcinoma (ACCA) and cystic hypersecretory carcinoma (CHC), as well as invasive ductal carcinoma (IDC).

ACCA

acinic cell carcinoma


Input: This study investigated the regulation of several genes and proteins involved in the activation of key signaling pathways promoting muscle hypertrophy, including GH/STAT5, IGF-1/Akt/GSK-3beta/4E-BP1, and muscle atrophy, including TNFalpha/SOCS-3 and Akt/FKHR/atrogene, in muscle biopsies from 13 young (20 +/-0. 2 years) and 16 older (70 +/-0. 3 years) males.

muscle hypertrophy


Input: The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting.

CFD

CFD


Input: Renal ischemia/reperfusion, however, can function as a third hit, triggering rapid cyst development in kidneys with Pkd1 inactivation induced in adult life.

hit


Input: We propose endogenous TNFalpha as a key player in cancer-related heat hyperalgesia and nociceptor sensitization that generates TRPV1 upregulation and sensitization via TNFR2.

TNFalpha

hyperalgesia

TNFalpha

hyperalgesia


Input: We also performed scanning for coronary artery calcification (CAC) in 1018 of these individuals.

CAC

coronary artery calcification


Input: Western blot and real-time PCR results indicated that the expression of heparanase and VEGF was increased under hypoxic conditions, and the increase of VEGF was inhibited by PI-88.

heparanase

hypoxic


Input: Thus, DNMT3A joins an emerging group of epigenetic DNA-and histone-modifying genes associated with both developmental growth disorders and hematological malignancies.

growth disorders

growth disorders


Input: To investigate whether peptidyl arginine deiminase type IV gene (PADI4) polymorphisms contribute to rheumatoid arthritis (RA) susceptibility in Egyptians, whether they influence disease severity and activity, and whether they affect anti-mutated citrullinated vimentin antibodies (anti-MCV) level.

IV gene

arthritis


Input: The objective of the study was to assess the association of a family history (FH) of premature coronary heart disease (CHD) with coronary artery calcification (CAC) in asymptomatic individuals and to compare the effects of sibling or parental FH on the risk of subclinical atherosclerosis.

CAC

coronary artery calcification


Input: To determine whether changes in GABA activity played a role in decreased hypersensitivity after SCI and p65/p50 targeted decoy, we counted gamma-aminobutyric acid (GABA)-containing neurons in laminae 1-3.

hypersensitivity


Input: Genetic ablation of miR-145 in hypoxic mice led to improved hemodynamic and vascular remodeling parameters.

vascular remodeling


Input: The TGFB1 Ex5-73C > T variant was positively associated with TGCT (CT/TT versus CC: odds ratio, 1. 73; 95% confidence interval, 1. 01-2. 95; P (trend) = 0. 05); additionally, haplotypes of the assessed TGFB1 SNPs (-509C > T, 327C > T, Ex1-282C > G, and Ex5-73C > T) differed in frequency between cases and controls (all TGCT, P 0. 07; seminoma, P 0. 04; nonseminoma, P 0. 11).

nonseminoma


Input: Additionally, increased MCP-1 in both intact L4 and injured L5 DRG neurons may contribute to neuropathic pain hypersensitivity following L5 SNL.

SNL

hypersensitivity


Input: Differential regulation of the response to DNA damage in Ewing' s sarcoma cells by ETS1 and EWS/FLI-1.

sarcoma


Input: Our results revealed that, in addition to the enhancement of Fas-L expression, PEDF increased the sensitivity of A549 and Calu-3 cells to Fas-L-mediated apoptosis by triggering the translocation of Fas protein to the plasma membrane in a p53-and FAP-1-dependent manner.

Calu

translocation


Input: In studies to elucidate the mechanism by which ATRA alters Rb2/p130 stability in ovarian cancer cells, it was determined that PP2A, a serine/threonine phosphatase, binds and dephosphorylates Rb2/p130.

ovarian cancer

ovarian cancer


Input: The AG + AA genotypes of CTLA-4/rs3087243 statistically and antagonistically interacted with soybeans, pork and alcohol intake and were associated with CRC risk.

alcohol intake


Input: High expression of GCLC is associated with malignant melanoma of low oxidative phenotype and predicts a better prognosis.

GCLC

malignant melanoma


Input: TRAIL expression and infiltration by CD11c + cells was abundant in perilesional vitiligo skin.

TRAIL

vitiligo


Input: Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.

OCa

OCa


Input: In conclusion, STAT5b activation enhanced HCC aggressiveness by induction of EMT, which was possibly mediated by HBX activation.

HCC

aggressiveness


Input: We previously showed that SP and its cognate receptor NK-1 (SP/NK1-R) signaling modulates the basal phosphorylation of HER2 and EGFR in BC, increasing aggressiveness and drug resistance.

aggressiveness


Input: In light of these observations, we propose that ischemia-reperfusion and oxidant stress, in vivo, may be simulated by anoxia-hyperoxia induced stress in vitro, and that this stress may act as a stimulus for the production of IL-8.

hyperoxia


Input: C-fos expression after icv CRF has been considered a useful tool in mapping areas involved in stress and in seizure activity.

CRF

seizure

CRF

seizure


Input: In the present study we have examined the MATA1 gene of eight hypermethioninemic individuals, including the two with demyelination of the brain.

demyelination

demyelination


Input: METHODS: C57BL/6 oxygen-induced retinopathy (OIR) mice and human retinal microvascular endothelial cells (HRECs) were treated with the hypoxia mimetic agent cobalt chloride (CoCl₂), and in the presence of the heparanase inhibitor phosphomannopentaose sulfate (Muparfostat, PI-88).

heparanase

hypoxia


Input: We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.

SKI

Shprintzen-Goldberg syndrome

SKI

Shprintzen-Goldberg syndrome


Input: The SPRY4 intronic transcript 1 (SPRY4-IT1) is a 708-bp lncRNA on chromosome 5 with a potential functional role in tumorigenesis.

tumorigenesis


Input: In PC-3 xenografts in vivo the dl1102 mutant significantly prolongs time to tumor progression that is further enhanced in combination with docetaxel.

tumor progression


Input: Functional evaluation of the autoimmunity-associated CTLA4 gene: the effect of the (AT) repeat in the 3' untranslated region (UTR).

UTR

autoimmunity


Input: Pathways that have emerged as having critical roles in both cancer and neurodegenerative disease include those involving genes such as PARK2, ATM, PTEN, PTPRD, and mTOR.

PTPRD

neurodegenerative disease


Input: Human tumor necrosis factor receptor (p55) and interleukin 10 gene transfer in the mouse reduces mortality to lethal endotoxemia and also attenuates local inflammatory responses.

endotoxemia


Input: X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis.

PRD

gliosis


Input: The peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor (PPIF: previously known as cyclophilin 3) is a protein that is part of the mitochondrial permeability transition pore, the activation of which is involved in the induction of necrotic and apoptotic cell death.

cyclophilin 3

necrotic


Input: In the present study, we established that this polymorphism is located at position-1024 relative to the ATG translation initiation codon, and investigated whether it confers a genetic predisposition to atopic conditions and the Th1 condition multiple sclerosis (MS) in Caucasian subjects.

atopic


Input: Menin' s interaction with mixed-lineage leukemia protein-containing histone methyl transferase (MLL-HMT) complex mediates tissue-selective tumor-suppressing and tumor-promoting effects of menin, and as such could be decisive for the predisposition of individual tissues to MEN1-associated tumorigenesis.

MLL

tumorigenesis


Input: We explored the predictive significance of BRCA1, TXR1 and TSP1 expression in non-small-cell lung cancer (NSCLC) patients treated with docetaxel in association with cisplatin or gemcitabine.

lung 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: Recombinant adenovirus Ad-AShcox-2 was constructed and transfected into human HCC cell lines SMMC7402 and SMMC7721, and its effects on COX-2 expression, cell apoptosis and cell cycle were analyzed by flow cytometry.

HCC

adenovirus


Input: Frequent inactivation of RAMP2, EFEMP1 and Dutt1 in lung cancer by promoter hypermethylation.

lung cancer

lung cancer


Input: XNP mutation in a large family with Juberg-Marsidi syndrome.

XNP

Juberg-Marsidi syndrome

XNP

Juberg-Marsidi syndrome


Input: The present study addressed expression of DBCCR1 in gliomas, specifically in astrocytomas, using semi-quantitative RT-PCR on 25 tumours of different malignancy grade and on 5 control brain tissue samples.

gliomas


Input: The older patients demonstrated advanced foveal atrophy and punched-out foveal hypofluorescence with discrete borders on FAF imaging corresponding to the area of outer retinal cavitation on OCT. Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis.

FAF

foveal atrophy


Input: The FOXO3A rs2802292 G-allele associates with improved peripheral and hepatic insulin sensitivity and increased skeletal muscle-FOXO3A mRNA expression in twins.

insulin sensitivity


Input: A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

Bethlem myopathy

Bethlem myopathy


Input: Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.

pancreatic cancer


Input: Univariate analysis showed no significant association of gelatinase A and matrilysin mRNAs with the classical prognostic markers (age, menopausal status, stage, size, nodal status, vascular infiltrate, necrosis, steroid receptors, metastasis and survival).

gelatinase A

necrosis


Input: Resveratrol attenuates angiotensin II-induced interleukin-6 expression and perivascular fibrosis.

angiotensin II

fibrosis

angiotensin II

fibrosis


Input: The antibody titer against AnxA2 may be a potentially useful new diagnostic surrogate marker for asbestos-related lung cancer and malignant mesothelioma.

lung cancer

lung cancer


Input: These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice.

dwarfism

dwarfism


Input: We found that the combination of both a vaccine consisting of 4-1BBL-expressing RM-1 cells and CTLA-4 blockade resulted in regression of RM-1 tumors and a significant increase in survival of the tumour cell recipients, compared to that of either treatment alone.

regression


Input: When the expression of RasGRF1 was down-regulated in ARMS cells by an shRNA strategy, these RasGRF1-kd RMS cells did not respond to stimulation by SDF-1, HGF/SF, Igf-2 or insulin by phosphorylation of p42/44 MAPK and AKT and lost their chemotactic responsiveness; however, their adhesion was not affected.

AKT

adhesion


Input: The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.

TLS

lipoma


Input: Our results define the extent of allelic heterogeneity and the types (41% missense; 59% truncating) and distribution (35% in exons 10, 12, 14) of HMBS mutations, for AIP in the United Kingdom.

HMBS

AIP

HMBS

AIP


Input: Physicians should be aware of the association between interferon-alpha 2a and ribavirin use for hepatitis C infection and the development of Harada disease.

interferon-alpha 2a

Harada disease

interferon-alpha 2a

Harada disease


Input: Severity of CD18 (hypo) PL/J psoriasiform dermatitis correlated with a loss of skin-resident Vγ5 (+) T cells and concurrent skin infiltration with IL-17 (+), IL-22 (+), and TNF-α (+) γδTCR (low) cells preceded by increases in Vγ4 (+) T cells in local lymph nodes.

psoriasiform dermatitis


Input: In order to examine the sensitivity of learning and memory to circadian disruption, we altered normal lighting phases by an 8 h shortening of the dark period every 3 days (jet lag) in the APPSwDI NOS2-/-model of AD (AD-Tg) at a young age (4-5 months), when memory is not yet affected compared to non-transgenic (non-Tg) mice.

jet lag


Input: We isolated and characterized an HUCB-derived population of progenitors (HUCBNP), differentiated toward neuronal phenotype by human neuroblastoma-conditioning medium (CM) and nerve growth factor (NGF), which have been found to confer neuroprotection toward hypoxia-mediated neuronal injury.

NGF

hypoxia


Input: The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t (8; 22) (q24. 13; q11. 21) in a young girl with dysgerminoma.

translocation


Input: Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.

CHOP

fatty liver

CHOP

fatty liver


Input: miR-21/DDAH1 pathway regulates pulmonary vascular responses to hypoxia.

hypoxia


Input: LOH at 8p21. 3-p22 was observed mainly from the invasive SCC and metastatic carcinoma.

metastatic carcinoma


Input: We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A--> C, K751Q), XPG (exon 15 G--> C, D1104H), XPC (exon 15 A--> C, K939Q), XRCC1 (exon 10 G--> A, R399Q) and XRCC3 (exon 7 C--> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.

chromosomal aberrations


Input: Arsenic-related BCCs express p53 less often and at a lower intensity than sporadic BCCs (P =. 001; 2-tailed test).

sporadic


Input: To compare the copy number intensities of genes associated with GAD67 regulation in the stratum oriens of sectors CA3/2 and CA1 in patients with schizophrenia, patients with bipolar disorder, and healthy controls.

schizophrenia


Input: Inactivating mutations of the FSH receptor (FSHR) are known to cause ovarian failure with amenorrhea and infertility in women.

FSHR

infertility


Input: The aim of this study was to detect and characterize the choline transporter-like 1 (CTL1/SLC44A1) protein in CNS tissues and the hybrid neuroblastoma x glioma cell line NG108-15, which synthesizes acetylcholine and has high affinity choline transport but does not express the cholinergic high affinity choline transporter 1.

choline transporter

neuroblastoma


Input: This study demonstrates that Purkinje cell loss and astrocytosis in FAD in the cerebellum are greater than in SAD, indicating that the cerebellum is more affected in FAD than in SAD.

FAD

astrocytosis


Input: Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D.

LCA

LCA


Input: High-molecular-weight DNAs from 43 human primary tumor tissues were examined by Southern blot hybridization for possible rearrangement and/or amplification of the following protooncogenes: the c-myc, c-erbB-1, N-myc, c-mos and c-fos genes.

N-myc

weight


Input: 90% of reattenders fulfilled European Spondyloarthropathy Study Group criteria; 73. 5% showed MRI inflammation despite clinical improvement (median BASDAI 5. 65 to 3. 05; p < 0. 009).

MRI

inflammation


Input: Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based diagnostic methods can detect 95% of the G6Pase mutant alleles in Japanese patients with GSD-Ia, and remaining mutations can be identified and characterized by the direct sequencing of genomic DNA and/or the analysis of ectopically expressed mRNA.

GSD-Ia

GSD-Ia


Input: In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.

LHRH

hypertension

LHRH

hypertension


Input: T-cell immunoglobulin-and mucin-domain-containing molecule 3 (TIM-3) has been established as a negative regulatory molecule that plays a critical role in controlling inflammation.

inflammation


Input: Collectively, these results suggest that insulin resistance is responsible for GRK4 overexpression and GRK2 translocation leading to hyperphosphorylation of D (1A) receptors and their uncoupling from G (s) proteins as rosiglitazone treatment corrects these defects in OZRs.

translocation


Input: Loss of these two tumor suppressors is a frequent event in endometrial tumorigenesis, and ZFHX3 defects are associated with poor outcome.

tumorigenesis


Input: Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4. 1% for this group.

X-ALD

X-ALD


Input: The novel mutation identified in TPM1 is associated with the clinical features of cardiac hypertrophy in all but one genetically affected member of this large family.

cardiac hypertrophy


Input: Four SNPs of the FUT2 gene (rs281377, rs1047781, rs601338, and rs602662) from 1200 non-cancer controls and 700 oral squamous cell carcinoma (OSCC) patients were analyzed by real-time polymerase chain reaction (PCR).

FUT2 gene

squamous cell carcinoma


Input: Together, these results strongly implicate a new c-Src-dependent link between CHKA and EGFR, which contributes to the regulation of cell proliferation and tumorigenesis.

CHKA

tumorigenesis


Input: In TP53wt patients with high or intermediate risk cytogenetic aberrations, the MDM2 (SNP309) conferred an impaired outcome, with patients carrying the alternative G-allele having shorter OS compared with T/T patients (median 9 vs. 50 months, P = 0. 020).

cytogenetic aberrations


Input: The translocation results in the fusion of the transcription factor TFE3 to one of several different fusion partners including PRCC, PSF, NONO, ASPL or CTLC with consecutive overexpression of the chimeric protein.

PSF

translocation


Input: Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency


Input: Eighteen of these tumors were from eight patients with known MSH2 germline mutations, two tumors were from a patient with a germline mutation in MLH1, and eight microsatellite stable sporadic skin tumors served as controls.

sporadic


Input: A " three-pronged " binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.

XLP

XLP


Input: The ic-STZ-injected rats did not have elevated blood glucose levels, and pancreatic architecture and insulin immunoreactivity were similar to control, yet their brains were reduced in size and exhibited neurodegeneration associated with cell loss, gliosis, and increased immunoreactivity for p53, active glycogen synthase kinase 3beta, phospho-tau, ubiquitin, and amyloid-beta.

neurodegeneration


Input: The ERCC1 (excision repair cross complementation group 1) and ERCC2 (excision repair cross complementation group 2) genes are important in repairing DNA damage and genomic instability in germ cells, and are essential for normal spermatogenesis.

genomic instability


Input: Differential regulation of IRS1 and IRS2 and of their downstream effectors AKT1 and AKT2 is consistent with upregulation of FOXO1 and may justify the paradoxical state of insulin resistance relative to the glucoregulatory pathway and augmented insulin sensitivity of the liporegulatory pathway typical of steatosis and the metabolic syndrome in obese patients.

insulin sensitivity


Input: In 40 unrelated patients presenting with MODY5 phenotype, TCF2 was screened for mutations by sequencing.


Input: Investigation of the candidate genes for proteinuria in adults from the general population provided support for a region on chromosome 15 near RSL24D1/UNC13C/RAB27A.

proteinuria


Input: We have shown, using the Cre/loxP system, that cardiac-specific disruption of SRF gene in the embryonic heart results in lethal cardiac defects.

SRF gene

cardiac defects


Input: ST7 suppressed growth of PC-3 prostate cancer cells inoculated subcutaneously into severe combined immunodeficient mice, and increased the latency of tumor detection from 13 days in control tumors to 23 days.

prostate cancer


Input: The activation of FGFR3 might be a common feature in the tumorigenesis in seborrhoeic keratosis, although the activation does not induce a typical oncogenic signal in keratinocytes.

tumorigenesis


Input: It is flanked by two genes ASZ1 [ankyrin repeat, SAM (sterile alpha-motif) and basic leucine zipper] and CTTNBP2 (cortactin-binding protein 2), which have very different expression profiles.

cortactin-binding protein 2

sterile


Input: The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-& #946; signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.

SKI

SGS

SKI

SGS


Input: These results reinforce the notion that mutations in the XDH gene are the underlying cause of classical xanthinuria type I.

XDH

classical xanthinuria type I

XDH

classical xanthinuria type I


Input: Young (15-28) and aged (61-77) HDF were heat pre-conditioned (42 degrees C, 1 h) and after recovery (1, 2, or 20 h) treated with carbonyl-cyanide-m-chlorophenylhydrazone (hypoxic stress) or with hydrogen peroxide (oxidative stress) for 1 h. HSP70 levels were determined by Western blot.

hypoxic


Input: Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients.

cystinuria

cystinuria


Input: For type II cancer, positive associations were due to supplemental, rather than dietary, intake of these nutrients: supplemental folate (RR = 1. 80 for > 228. 6 versus 0 μg/day; P trend = 0. 027) and vitamins B2 (RR = 1. 94 for > 1. 70 versus 0 mg/day; P trend = 0. 011), B6 (RR = 2. 08 for > 2. 00 versus 0 mg/day; P trend = 0. 012), and B12 (RR = 2. 10 for > 3. 43 versus 0 μg/day; P trend = 0. 0060).

cancer


Input: ACAT inhibitors cannot only prevent atherosclerosis formation, but may also induce its regression in animals.

ACAT

regression


Input: Synaptic depression via mGluR1 positive allosteric modulation suppresses cue-induced cocaine craving.

depression

depression


Input: Single nucleotide polymorphisms (SNPs) in IL6, IFNG, IL1B, and IL1RN were genotyped in the Lung Health Study and correlated with rate of decline of forced expiratory volume in 1 second (FEV (1)) over 5 years, baseline FEV (1), serum protein levels, cardiovascular disease, and interactions with smoking.

smoking


Input: The HGF-messenger RNA (mRNA) level in the liver rose in the fulminant hepatitis phase, fell in the chronic hepatitis phase, and was intermediate or high during the hepatoma phase.

HGF

fulminant hepatitis


Input: Methylated DNA bases are removed by base excision repair initiated by the alkyladenine-DNA glycosylase, the family of AlkB homologs proteins, and the suicide enzyme O (6)-methylguanine-DNA methyltransferase (MGMT), which is the main focus of this review.

MGMT

suicide


Input: Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family.

TARDBP

anarthria


Input: To determine the effect of pigment epithelium-derived factor (PEDF) in a mouse model of ischemia-induced retinal neovascularization and on vascular endothelial growth factor (VEGF)--induced migration and growth of cultured microvascular endothelial cells.

PEDF

retinal neovascularization


Input: Eighty-two Caucasian males grouped into normozoospermic healthy controls (n = 30) and infertile OAT males (n = 52).

OAT

infertile


Input: Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.

Lynch syndrome

Lynch syndrome


Input: We also identified six genes driving malignant tumor progression and a new human CRC tumor-suppressor gene, ZNF292, that might also function in other types of cancer.

CRC

CRC


Input: Activation of the human FP prostanoid receptor disrupts mitosis progression and generates aneuploidy and polyploidy.

FP prostanoid receptor

aneuploidy


Input: Glycosylphosphatidylinositol-specific phospholipase D is expressed by macrophages in human atherosclerosis and colocalizes with oxidation epitopes.

Glycosylphosphatidylinositol-specific phospholipase D

atherosclerosis


Input: These breaks activate the G2/M checkpoint protein, Chk1, and induce near-tetraploid aneuploidy, commonly observed in human cancer, consequently elevating the transformation frequency.

aneuploidy


Input: In this sample of healthy families, plasma levels of IL-6 and TNF-alpha were differently affected by biological parameters including age, gender and smoking, and the impact of their respective polymorphisms was influenced by gender, age and BMI.

TNF-alpha

smoking


Input: However, whether PKR is involved in the progress of periodontitis is not clear.

PKR

periodontitis


Input: Therefore, using the sensitive and quantitative ACB-PCR approach, we quantified KRAS codon 12 GGT → GAT and GGT → GTT mutant fraction (MF) in 20 normal thyroid tissues, 17 primary PTC, 2 metastatic PTC, and 1 anaplastic thyroid carcinoma.

GGT

anaplastic thyroid carcinoma


Input: Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death.

congenital contractures

congenital contractures


Input: Patients with autoimmune diabetes showed a clinical phenotype significantly different from that of type 2 diabetes, including higher fasting glucose and A1C, lower BMI and uric acid, lower prevalence of metabolic syndrome and its components, and higher frequency of TPO antibodies.

TPO

metabolic syndrome


Input: IL-6 was strongly associated with markers of inflammation (C-reactive protein, fibrinogen, white cell count); plasma viscosity; elevated markers of coagulation (fibrin D-dimer, FVIII, FIX); markers of endothelial dysfunction (von Willebrand factor, tissue plasminogen activator); and to a smaller extent with platelet count, APC ratio and gamma glutamyltransferase.

FVIII

fibrinogen


Input: In addition, all of the adhesion molecules studied (ICAM-1, LFA-3, VLA-1, CD11a, CD11b, and CD11c) were detected on the cell surface.

adhesion


Input: The long-term restriction of BCAA intake in diets and orthotopic liver transplantation have proven effective in controlling plasma BCAA levels and mitigating some of the above neurological manifestations.

BCAA

neurological manifestations


Input: Three hundred and four severely obese patients (mean +/-SEM age, 42 +/-1 years; 245 women and 59 men; mean +/-SEM body mass index, 43. 9 +/-0. 3 kg/m2) followed prospectively for at least 3 years after surgery were genotyped for the GNB3 C825T, G814A, and GNAS1 T393 polymorphisms.

body mass index


Input: Nevertheless, the loss of Pdcd4 early in cancer progression may have an important role in the increased sensitivity of cancer cells to hypoxia through increased LOX activity and concomitant enhanced invasiveness.

LOX

hypoxia


Input: Furthermore, exposure to hypoxia reduced CTGF synthesis in response to TGF-beta.

CTGF

hypoxia


Input: The transfection of constitutively active MEK1 or pretreatment with SB202190 (p38 MAPK inhibitor) abolished the caffeine effect on MKP-1 and PP2Acα expression.

caffeine


Input: Our data suggest that miR-221 may contribute to the development of the insulin resistance that typically accompanies obesity, by affecting PPAR signalling pathways and by directly downregulating ADIPOR1 and ETS1.

obesity


Input: Tau gene mutation K257T causes a tauopathy similar to Pick' s disease.

Tau

Pick' s disease

Tau

Pick' s disease


Input: Thirty-four SMAD3 gene mutation carriers coming to our centre were identified and 16 relatives were considered affected because of aortic surgery or sudden death (total 50 subjects).

SMAD3 gene

sudden death


Input: Hypoxic mice treated with miR-21 inhibitors and DDAH1 transgenic mice showed elevated lung DDAH1, increased cGMP levels and attenuated pulmonary hypertension.

pulmonary hypertension


Input: The CD5 + B cell subset may be expanded in non organ-specific autoimmune diseases, such as rheumatoid arthritis, primary Sjögren' s syndrome, systemic lupus erythematosus.

autoimmune diseases


Input: NRG1, ERBB3, and NGFR show expression changes during the years of greatest risk for the development of schizophrenia.

NGFR

schizophrenia

NGFR

schizophrenia


Input: In conclusion, the high expressions of Nnat were found to be associated with good prognoses in neuroblastoma, which might indicate tumor differentiation, and its suppressions in unfavorable tumors are considered to be under epigenetic control.

Nnat

neuroblastoma

Nnat

neuroblastoma


Input: These results suggest that HOXB13 is a novel candidate tumor suppressor gene in RCC and that its inactivation may play an important role in both RCC tumorigenesis and progression.

tumorigenesis


Input: Mutations in the gene (SCN5A) encoding the alpha-subunit of the cardiac Na + channel cause congenital long QT syndrome (LQT-3).


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

depression

depression


Input: Subsequent real-time PCR assays confirmed 16 of these targets, and 9 of these genes (ARHGAP29, CDC25A, CDKN2AIP, CX3CL1, ELF4, GNAL, KDELR1, POU4F2, and THRA) have a known role in tumorigenesis.

tumorigenesis


Input: A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

luteinizing hormone/choriogonadotropin receptor

male-limited precocious puberty

luteinizing hormone/choriogonadotropin receptor

male-limited precocious puberty


Input: Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.

vitamin D-binding protein

lung tumor

vitamin D-binding protein

lung tumor


Input: In PCOS patients, visceral HSD11B1 expression correlated positively with waist circumference (p = 0. 001), BMI (p = 0. 002), plasma insulin (p < 0. 05), systolic blood pressure (p = 0. 003), and lipoprotein lipase (LPL), hormone-sensitive lipase (LIPE) and peroxisome-proliferator activated receptor γ gene expression.

systolic blood pressure


Input: These data confirm a previously suggested role for ALCAM in the regulation of adherens junctions, and also suggest a mechanism by which ALCAM might differentially enhance or decrease invasiveness, depending on the type of cadherin adhesion complexes present in tissues surrounding the primary tumor, and on the cadherin status of the tumor cells themselves.

ALCAM

adhesion


Input: We examined the association between mammographic density and single-nucleotide polymorphisms (SNPs) in genes encoding CYP1A1, CYP1B1, aromatase, 17beta-HSD, ESR1, and ESR2 in pre-and early perimenopausal white, African-American, Chinese, and Japanese women.

mammographic density


Input: These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.

fundus albipunctatus

fundus albipunctatus


Input: UCP1-3826A/G and ADRB3 Trp64Arg polymorphisms may have a combined effect in the modulation of overweight/obesity and HDL-C levels in type 2 diabetes mellitus (T2DM) Caucasian-Brazilian patients.

overweight


Input: Patients with hemolysis, despite elevated plasma bilirubin levels, had mean BSP K (1) values similar to the normal subjects.

BSP

hemolysis


Input: To study the effects of interleukin-10 (IL-10) on the expression of alpha-smooth muscle actin (alpha-SMA), nuclear factor-kappa B (NF-kappa B) and Fas/Fas ligand (FasL) in hepatic stellate cells of experimental rats with hepatic fibrosis.

Fas ligand

hepatic fibrosis


Input: Similarly, a synthetic peptide mimicking the C-terminus of the fibrinogen γ' chain, which binds thrombin and inhibits its activities, greatly increased the APC sensitivity of normal and FV Leiden plasma, likely due to its ability to inhibit thrombin-mediated activation of FV and FVIII.

FVIII

fibrinogen


Input: Sonograms of 233 breast masses, including 33 BRCA-associated malignant masses (BRCA1, 15; BRCA2, 18), 148 sporadic malignant masses, and 52 benign masses, were reviewed by consensus by 2 radiologists according to American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) terminology.

sporadic


Input: However, multivariable Cox regression revealed that patients with higher than median PMP22 gene expression have a 3. 47 times higher risk to die of cancer compared to patients with equal values on clinical covariables but lower PMP22 expression.

regression


Input: Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.

infantile glaucoma

infantile glaucoma


Input: It is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with SRY translocation, which is responsible for gonadal differentiation.

SRY

translocation


Input: TLR4 bone marrow chimeric mice revealed an equal contribution of TLR4 on nonparenchymal and parenchymal cells in the pathogenesis of PH as determined by measuring right ventricular (RV) systolic pressure and RV hypertrophy.

systolic pressure


Input: Association between an intronic apolipoprotein E polymorphism and bone mineral density in Singaporean Chinese females.

apolipoprotein E

bone mineral density


Input: Third, using a statistical simulation method (miRHub) applied to the gene expression data, we identified candidate master miRNA regulators of pathways controlling cholesterol homeostasis in chronic viral hepatitis and HCC, including miR-21, miR-27, and miR-33.

chronic viral hepatitis


Input: DDAH1, but not DDAH2, mRNA levels were reduced, whereas miR-21 levels were elevated in lung tissues from patients with pulmonary arterial hypertension and mice with pulmonary hypertension exposed to 2 weeks of hypoxia.

hypoxia


Input: The patient harboring the c. 249-1G > A mutation exhibited isolated growth hormone deficiency at diagnosis and a gradual loss of ACTH, whereas the patient with the p. V75I mutation exhibited multiple pituitary hormone deficiency.

ACTH

pituitary hormone deficiency


Input: A multi-insult rat model of ARF combining the application of contrast medium with nitric oxide synthase (NOS) and cyclooxygenase (COX) inhibition was used to study chronology and distribution of the oxygen regulated HIF isoforms HIF-1alpha and HIF-2alpha in comparison with the hypoxia-marker pimonidazole between 10 minutes and 48 hours after injury induction.

COX

hypoxia


Input: We assessed the occurrence of several prothrombotic states (factor V Leiden, prothrombin G20210A, deficiencies in protein S, protein C and antithrombin, lupus anticoagulant, anticardiolipin antibodies, elevated factor VIII, resistance to activated protein C) and classical risk factors for venous thrombosis in 57 adult patients with cryptogenic stroke and patent foramen ovale and in 104 matched controls.

protein C

patent foramen ovale


Input: Our results show that fusion of the NUP98 and LEDGF genes is a new recurrent translocation in AML.

translocation


Input: Rosiglitazone attenuates age-and diet-associated nonalcoholic steatohepatitis in male low-density lipoprotein receptor knockout mice.

low-density lipoprotein receptor

nonalcoholic steatohepatitis

low-density lipoprotein receptor

nonalcoholic steatohepatitis


Input: PXR is a key regulator of pregnancy induced glucuronidation capacity in addition to modulating the severity of neonatal jaundice.

PXR

neonatal jaundice

PXR

neonatal jaundice


Input: As exemplified by the transcription factor signal transducer and activator of transcription 3 (STAT3), we show that a single gene can have a plethora of effects in various cell types of the gut.

plethora


Input: The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.

glyceraldehyde-3-phosphate dehydrogenase

ACS

glyceraldehyde-3-phosphate dehydrogenase

ACS


Input: Transgenic mice (TG) with cardiac specific over-expression of Hsp27 and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce HF.

HF

HF


Input: Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD.

MIM

syndactyly


Input: The identified loss-of-function mutations in NFKBIA leading to protein truncation contributed to the altered NF-& #954; B activity, which is critical for NPC tumorigenesis.

NFKBIA

NPC

NFKBIA

NPC


Input: In the present study, we have analyzed 16 MPNSTs, including 11 from patients with NF1 and 5 sporadic cases, for mutations in the coding sequence of the TP53 gene (exons 2-11).

TP53 gene

sporadic


Input: In this study, we detected cyclin D1 expression in esophageal carcinomas from southern China 61% and 35% cases showed increased expression of cyclin D1 in esophageal carcinomas and the adjacent epithelia, respectively.

cyclin D1

esophageal


Input: Dual abnormalities of INI-1 loss and V600E BRAF mutation were identified in a cell culture line established from cerebrospinal fluid metastatic tumor cells.

INI

abnormalities


Input: SST promoter hypermethylation is a common event in human esophageal carcinomas and is related to early neoplastic progression in Barrett esophagus.

SST

esophageal


Input: One month after treatment, TTP patients showed a significant decrease in plasma TM levels, and a significant increase in plasma TFPI levels, but plasma levels of TF antigen were not significantly increased.

TF

TTP

TF

TTP


Input: Thus, we hypothesize that as a major ligand for VEGFR1, placental growth factor (PLGF) may also play a role in the neovascularization and tumorigenesis of OH.

PLGF

tumorigenesis


Input: Activation of PPARγ by rosiglitazone significantly reduced the incidence and severity of lung metastasis in an orthotopic HCC mouse model.

PPARγ

lung metastasis


Input: A significant positive correlation was found between 11β-HSD-1 expression in EA tissue and waist hip ratio and 11β-HSD-1 expression in AA tissue and body mass index, while a negative correlation was found between 11β-HSD-1 expression in EA tissue and HDL.

body mass index


Input: Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers.

CYBA

inflammation


Input: Our aim was to perform a case-control replication study in order to assess the possible association of childhood obesity and overweight with the above-mentioned ENPP1 SNPs, and with the QdelTG haplotype, in the Italian population.

overweight


Input: In cell lines from advanced lung cancer, breast cancer, and melanoma, endogenous tensin-3 contributes to cell migration, anchorage-independent growth, and tumorigenesis.

tensin

lung cancer


Input: Here, we address whether or not intermittent hypoxia (IH) or restraint (R) or a combination of both (IH + R) during gestation would result in differential alteration of the HPA axis and behavior of the adult male offspring.

HPA

hypoxia


Input: In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G & gt; T) was found.

ICP

ICP


Input: We performed mutational analysis of 20 exons from 9 genes (EGFR, CDKN2A, MET, KIT, RAS, BRAF, PI3KCA, HER-2 and PDGFR-alpha) on biopsy material from 25 patients who underwent primary surgery for uterine sarcoma between October 1995 and October 2003.

BRAF

uterine sarcoma


Input: The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, PDGFR-alpha, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in MC.

PDGFR-alpha

MC

PDGFR-alpha

MC


Input: We also found SRSF2, as well as another tau splicing factor, TRA2B, to be increased in brains of PSP patients.

PSP

PSP


Input: This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15.

Cousin syndrome

Cousin syndrome


Input: At concentrations found at sites of allergic inflammation, PGD2 preferentially elicited the production of IL-4, IL-5, and IL-13 by human Th2 cells in a dose-dependent manner without affecting the level of the anti-inflammatory cytokine IL-10.

inflammation


Input: However, he suffered from a mild neurological impairment, which is an uncommon feature that extends the phenotype associated with PGM1-CDG.

mild


Input: p53 tumor suppressor gene mutations predict decreased survival of patients with sporadic colorectal carcinoma.

p53 tumor suppressor gene

sporadic


Input: This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge.

Farber disease

Farber disease


Input: A survey of enzymes related with H3K9 methylation indicated that KDM3A/JMJD1A, a demethylase for H3K9me1 and me2, gradually increases during cancer transformation and is elevated in patient tissues.

cancer


Input: None of the markers p53, Hsp70, Ki67, and CD34 demonstrated prognostic significance for 5-year survival in patients with squamous cell carcinoma of the tongue.

squamous cell carcinoma of the tongue


Input: Fibroblast growth factor receptor-3 (FGFR3) is a receptor tyrosine kinase implicated in the tumorigenesis of multiple malignancies, including bladder and other urothelial cancers, multiple myeloma, and cervical cancer.

tumorigenesis


Input: Plasma lipids were measured enzymatically, lipoprotein subclasses were assessed by nuclear magnetic resonance, and coronary artery calcification (CAC) was quantified by electron beam computed tomography.

CAC

coronary artery calcification


Input: In the DNA of one small cell carcinoma, an extra c-myc and N-myc cross-hybridizing restriction fragment was observed, possibly owing to an amplification of a yet uncharacterized myc-related gene.

N-myc

small cell carcinoma


Input: Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients.

cystinuria

cystinuria


Input: In addition to EWS/FLI, variant translocation fusions belonging to the TET/ETS family have been identified in Ewing' s sarcoma.

EWS

translocation


Input: Vesicular glutamate transporter 1, netrin-G2, and netrin-G1d and G1f were increased in bipolar disorder but not in schizophrenia.

bipolar disorder

bipolar disorder


Input: Tissue specificity of PARP-DBD expression in human tumor cells was confirmed using the PSA-producing (LNCaP) and PSA-negative (PC-3) prostate cancer cells, as well as cells of nonprostate origin, Ewing' s sarcoma (A4573 cells).

PSA

sarcoma


Input: We postulated that DNA sequence variation in PPAR gamma (PPARG) co-activator 1 alpha (PPARGC1A), a gene encoding a co-activator of the LCPUFA-sensing PPARG-retinoid X receptor (RXR) transcription complex, may influence neovascularization (NV) in age-related macular degeneration (AMD).

neovascularization


Input: Thioredoxin (Trx) is an antioxidant that prevents oxidative stress-induced cell death, suggesting a potential therapeutic role in bronchopulmonary dysplasia.

Thioredoxin

bronchopulmonary dysplasia

Thioredoxin

bronchopulmonary dysplasia


Input: CCN3/nephroblastoma overexpressed belongs to the CCN family of genes that encode secreted proteins associated with the extracellular matrix (ECM) and exert regulatory effects at the cellular level.

ECM

nephroblastoma


Input: The growth, clone formation rate (CFR) ((5. 33 +/-1. 53)%) of the primary lung cancer cells transfected with the WWOX gene, tumor size and weight were significantly lower than those of the non-transfected lung cancer cells (CFR: (14. 33 +/-1. 53)%) and the primary lung cancer cells transfected with blank plasmids (CFR: (11. 00 +/-1. 73)%, P < 0. 05).

WWOX gene

weight


Input: The consistent results from both linkage and association studies strongly implicate the GGC repeats in the AR as a prostate cancer susceptibility gene.

GGC

prostate cancer susceptibility


Input: We evaluated the role of myeloperoxidase (MPO) in determining the sensitivity of leukemia cells to PTL-induced apoptosis.

PTL

leukemia


Input: Epigenetic silencing of the proapoptotic gene BIM in anaplastic large cell lymphoma through an MeCP2/SIN3a deacetylating complex.

large cell lymphoma


Input: Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity.

vision impaired


Input: Using a focal cerebral ischemia model in rats, brain ischemia-induced changes in expression levels of mRNA and protein, and activities of proprotein convertase 2 (PC2) in the cortex were examined.

brain ischemia


Input: Genomic and phenotypic analysis reveals a key role for CCN1 (CYR61) in BAG3-modulated adhesion and invasion.

adhesion


Input: Comparison of three genotypes revealed significant interaction between smoking and the IL6-634C/G genotype manifested by CRP concentrations (p = 0. 007) after the adjustments cited above.

smoking


Input: In addition, no significant interaction was observed after adjusting for multiple testing between genetic variants and pack-years of smoking, intake of red meat or HAAs (PhIP, MeIQx, Di-MeIQx or total HAAs) or NAT2 genotype (Rapid versus Slow or Intermediate).

smoking


Input: It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.

malformation


Input: This study suggests that the Ile164 polymorphism of the beta2-adrenoceptor does not have a major impact on outcome in individuals with heart failure, although it' s potential interaction with beta-blockers requires further examination.

heart failure


Input: Bioinformatic analysis identified putative downstream effectors of tumor protein 53 (p53) that were consistently repressed in gonadotrope pituitary tumors, including RPRM, P21, and PMAIP1, with concomitant inhibition of the upstream p53 regulator, PLAGL1 (Zac1).

pituitary tumors


Input: PLTP activity and apoE were measured in patients with type 2 diabetes from the DALI (Diabetes Atorvastatin Lipid Intervention) Study, a 30-week randomized double-blind placebo-controlled trial with atorvastatin (10 and 80 mg daily).

DALI

blind


Input: Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact.

TGFA

tooth agenesis


Input: The aim of this study was to establish the importance of p57 (Kip2), a unique cyclin-dependent kinase inhibitor, in the oncogenesis of bladder carcinoma.

cyclin-dependent kinase inhibitor

bladder carcinoma


Input: We conclude that EPG5-related Vici syndrome defines a novel group of neurodevelopmental disorders that should be considered in patients with suggestive features in whom mitochondrial, glycogen, or lysosomal storage disorders have been excluded.

Vici syndrome

Vici syndrome


Input: Using multiple linear regression analysis, an equation was developed (adjusted R² = 0. 73; p < 0. 0001) that included positive [preoperative LVM, microRNA-133a, serum response factor (SRF, which is known to be a transactivator of miR-133) and age] and negative [body mass index (BMI), Wolf-Hirschhorn syndrome candidate-2 (WHSC2, which is a target for repression by miR-133a), β-myosin heavy chain, myosin light chain-2, diabetes mellitus, and male gender] independent predictors of LVM reduction.

body mass index


Input: Genes examined included the retinoblastoma susceptibility gene (Rb-1); cyclins D1, D2, A, and E; the CDK inhibitors p18, p19, and p27; CDK2 and CDK6; transcription factors E2F-4, E2F-5, and DP-1; and the neurofibromatosis type 2 gene.

neurofibromatosis type 2


Input: X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

X-linked adrenal hypoplasia

X-linked adrenal hypoplasia


Input: To search for cytogenetic events associated with metastasis in regional or distant lymph nodes in BCA, we investigated 8 primary BCA and their lymph node metastases and compared them with 18 nonmetastatic BCA.

BCA

metastasis


Input: Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations.

hereditary prostate cancer

hereditary prostate cancer


Input: After a logistic regression fit, a best-subsets variable-selection procedure using model performance and predictive ability measures was applied to find a best predictor to distinguish BRCA1-associated tumors from non-BRCA associated tumors.

fit


Input: We have recently identified a polymorphism within the RANTES promoter (-403 G--> A) and have examined its role, using a PCR-RFLP assay, in the development of atopy and asthma in 201 Caucasian subjects.

RANTES

atopy


Input: The diagnosis was established after sequencing a panel of genes associated with cataracts, which revealed compound heterozygous SC5D mutations: c. 479C & gt; G p. (Pro160Arg) and c. 630C & gt; A p. (Asp210Glu).

cataracts

cataracts


Input: We demonstrate here for the first time that miR-21 is positively regulated via an AKT-dependent pathway, which is depressed during prolonged hypoxia.

hypoxia


Input: Analyses based on haplotypic genotypes (diplotypes), constructed with SNPs that differentiate common extant haplotypes extending across IDE, provided compelling evidence of association with fasting insulin levels (P = 0. 0009), 2-h insulin levels (P = 0. 0027), homeostasis model assessment of insulin resistance (P = 0. 0001), and BMI (P = 0. 0067), with effects exclusively evident in men.

IDE

insulin resistance


Input: The authors sequenced all eight exons and flanking regions in CTRC in 584 CP patients (497 TCP, 87 idiopathic CP) and 598 normal subjects and analysed the significance of association using & #967; (2) test.

CTRC

TCP

CTRC

TCP


Input: Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.

IFN

vasculitis


Input: We investigated the activation of FGFR3 and OIS by mutation and immunohistochemical analysis in skin tumours, including seborrhoeic keratosis, actinic keratosis (AK), Bowen' s disease (BD), basal cell carcinoma (BCC) and squamous cell carcinoma (SCC).

basal cell carcinoma


Input: Interestingly a germline p53 mutation increased the incidence of DMH-induced colon, lung, hepatic, and uterine tumors, while having limited effects on OHBBN-induced bladder tumors.

DMH

bladder tumors


Input: Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

keratin 3

Meesmann corneal dystrophy

keratin 3

Meesmann corneal dystrophy


Input: This suggests a dysfunction of the HPA-axis in HR participants that predates the development of alcoholism and a dissociation between plasma ACTH and cortisol levels as a function of family history of alcoholism.

HPA

dissociation


Input: Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.

breast cancer

breast cancer


Input: 14-DAG mediated activation of adenylate cyclase-cAMP signaling leading to up-regulation of cNOS may provide a promising approach in the prevention of liver diseases during chronic alcoholism.

DAG

liver diseases


Input: We addressed the in vivo function of DAF in a knockout mouse model and describe here that deletion of DAF exacerbates autoimmune disease development in MRL/lpr mice, a model for human systemic lupus erythematosus.

DAF

systemic lupus erythematosus


Input: The genes implicated, which replicated genes previously shown to be associated with alcoholism were: cadherin 11, collagen type 11 & #945; 2, neuromedin U receptor 2, exportin7, and semaphorin-associated protein 5A.

cadherin 11

alcoholism

cadherin 11

alcoholism


Input: We also observed an inverse correlation between the miR-124-3p levels and PIM1 protein or mRNA levels in astrocytoma samples.

astrocytoma


Input: The second gene fusion event, a translocation between the CLPTM1L and GLIS3 genes, generates a transcript whose product also promotes cancer phenotypes in HCC cell lines.

translocation


Input: To determine (1) whether the A (-2518) G polymorphism of CCL-2, the gene encoding monocyte chemoattractant protein-1 (MCP-1), is associated with disease, MCP-1 concentration, nephritis, or coronary artery calcification (CAC) in systemic lupus erythematosus (SLE); and (2) whether MCP-1 and homocysteine (Hcy) concentrations are correlated.

CAC

coronary artery calcification


Input: MiR-19a was upregulated in epithelia of severe asthmatic subjects compared with cells from mild asthmatics and healthy controls.

mild


Input: Thyroid hormone receptor alpha 1 (c-erb A alpha 1) suppressed transforming phenotype of nasopharyngeal carcinoma cell line.

hormone receptor

nasopharyngeal carcinoma


Input: We evaluated a strategy for anti-MCP-1 gene therapy against hepatic fibrosis by transfecting an amino-terminal deletion mutant, lacking the amino-terminal codons 2 to 8 of the human MCP-1 gene and designated 7ND, into skeletal muscle in a rat experimental model of dimethylnitrosamine (DMN)-induced fibrosis.

DMN

fibrosis


Input: We developed a nonallele-specific adeno-associated virus (AAV)-based RNAi knockdown strategy to rescue the retina degeneration caused by GCAP1 mutations.

retina degeneration


Input: Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.

ectodysplasin-A

hypohidrotic ectodermal dysplasia

ectodysplasin-A

hypohidrotic ectodermal dysplasia


Input: The role of Dkk1 in response to acid-mediated epithelial injury was analyzed by cellular assays in vitro utilizing squamous esophageal epithelial cell lines (EPC1-hTERT, EPC2-hTERT, and HEEC).

esophageal


Input: We have therefore investigated the restriction fragment length polymorphisms of the human GR gene locus (GRL) and have sought associations of specific alleles with anthropometric measurements and indices of insulin secretion and resistance in obesity.

GRL

obesity


Input: Indeed, inhibitors of ephrin-B2 binding to endogenous EphB4 did not influence cell substrate adhesion.

adhesion


Input: Furthermore, prognostic significance of GCLC expression was investigated in patients (n = 28) with advanced malignant melanoma.

GCLC

malignant melanoma


Input: The methylation patterns of the genes p16 (INK4a) (p16), tissue inhibitor of metalloproteinase 3 (TIMP3), p15 (INK4b) (p15), E-cadherin (ECAD), death-associated protein kinase (DAPK), p73, RAS-association domain family 1A (RASSF1A), p14, O (6)-methylguanine DNA methyltransferase (MGMT), and retinoid acid receptor beta2 (RARbeta) were determined in patients with monoclonal gammopathy of undetermined significance (MGUS; n = 29), smoldering multiple myeloma (SMM; n = 5), multiple myeloma (MM; n = 113), or plasma cell leukemia (PCL; n = 7) by methylation-specific polymerase chain reaction analysis.

plasma cell leukemia


Input: We report here that VPA treatment disrupts the AML1/ETO-HDAC1 physical interaction, stimulates the global dissociation of AML1/ETO-HDAC1 complex from the promoter of AML1/ETO target genes, and induces relocation of both AML1/ETO and HDAC1 protein from nuclear to perinuclear region.

dissociation


Input: Systemic injection of NaIO (3) was used to ablate the retinal pigment epithelial (RPE) layer in C57Bl6 mice and initiate neural retinal degeneration.

RPE

retinal degeneration


Input: TMPRSS6 inhibition via decreased STAT5 phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin expression to regulate iron homeostasis and immunity.

inflammation


Input: SAG silencing selectively inhibited cancer cell proliferation, suppressed in vivo tumor growth, and sensitized radiation-resistant cancer cells to radiation.

SAG

resistant cancer


Input: These phenotypes often present in elderly individuals who do not carry peripherin/RDS gene mutations and are associated with retinal pigment epithelium alterations and increased risk for choroidal neovascularization.

peripherin

choroidal neovascularization


Input: Twenty-four-hour DBP and MBP, LVM, LVM: height ratio, insulin level, insulin: glucose ratio and PRA were significantly higher in subgroup A than in subgroup B. Fasting blood sugar level, 24-h DBP and MBP, insulin level, insulin: glucose ratio, PRA, noradrenaline, adrenaline and plasma aldosterone levels were significantly higher in subgroup C than in subgroup D. Multivariate analysis also indicated that 24-h MBP and PRA levels were significantly influenced by the association between a positive family history of hypertension and obesity.

DBP

height


Input: We also showed that overexpression of Sirt3 using adenovirus inhibited HCC cell growth (two cell lines: HepG2 and HuH-7 cells) and induced apoptosis, which was evidenced by the increase of LDH leakage, enhancement of TUNEL-positive cells number and promotion of AIF translocation to nuclei.

HCC

adenovirus


Input: Clear cell sarcoma of soft tissue (CCS-ST) is a rare malignant neoplasm characterized by a tumor-defining translocation [t (12; 22) (q13; q12)], resulting in the EWS-ATF1 gene fusion.

EWS

translocation


Input: In vitro studies showed that CRA treatment downregulated the mRNA levels of MCP-1, and inhibited monocyte adhesion and migration, together with suppression of NF-κB signaling pathway.

NF-κB

adhesion


Input: Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

DCMA

DCMA


Input: Hypoadiponectinemia of 1. 7 microg/ml was also revealed, which may, in part, account for the insulin resistance and decreased LPL activity.

LPL

insulin resistance


Input: Local recurrence could be mostly averted by anatomic hepatectomy, although specific epithelial-mesenchymal transitions signaling might regulate the biologic aggressiveness of HCC.

HCC

aggressiveness


Input: In a murine model of stroke, using middle cerebral artery occlusion (MCAO), we found that C5a levels in the brain increased; this also occurred in cerebral slice cultures exposed to OGD.

middle cerebral artery occlusion


Input: SKP2 is frequently overexpressed in a variety of cancers.

cancers

cancers


Input: In the present study we assessed the potential role of miR-21 in the regulation of hypoxia-induced changes in ADMA metabolism in vitro and in vivo.

hypoxia


Input: CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

CASR

autosomal dominant hypocalcemia

CASR

autosomal dominant hypocalcemia


Input: We undertook combined genetic and epigenetic analysis of CHEK2 in sporadic primary breast, ovarian, and colon tumors [all exhibiting chromosome 22q loss of heterozygosity (LOH)] and cancer cell lines.

sporadic


Input: The number of P-STAT1 observed correlated significantly with the body mass index (BMI; p = 0. 03) and homeostatic model assessment (p = 0. 007).

body mass index


Input: The Th1 T cell-rich myocarditis plays a pivotal role in CCC pathogenesis.

myocarditis


Input: XIAP, Smac/DIABLO, and XAF1 expression was found in all non-neoplastic gastric mucosa samples and all adenocarcinomas.

non-neoplastic


Input: We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.

basal cell carcinoma


Input: Our findings identify Gal-9 as a novel component of the first wave of the cytokine storm in acute HIV infection that is sustained at elevated levels in virally suppressed subjects and suggest that Gal-9: Tim-3 crosstalk remains active in elite controllers and antiretroviral (ARV)-suppressed subjects, potentially contributing to ongoing inflammation and persistent T cell dysfunction.

inflammation


Input: For example, the odds ratio (OR) for developing early wheeze related to early maternal smoking was 2. 4 [95% confidence interval (CI) 1. 6-3. 7] in children with a wild-type CC homozygote genotype of the TNF-857 SNP, while no tobacco-related risk was seen in children carrying the rare T allele.

TNF

smoking


Input: In this study, the relative concentrations of breast cancer-associated lncRNA RP11-445H22. 4 were investigated in a total of 136 serum samples by real-time quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR).

RP11-445H22. 4

breast cancer


Input: Polymorphisms of FCGR2A and FCGR3A, which have been suggested to influence the activity of rituximab as a single agent, did not affect time to treatment failure in the pooled analysis of the three FOLL05 treatment arms that combined rituximab with chemotherapy (P = 0. 742, P = 0. 252, respectively).

arms


Input: Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

Kir2. 1

autism


Input: During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.

status epilepticus


Input: Clinical features include hypertension, hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis.

PRA

alkalosis


Input: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

X-linked hydrocephalus

X-linked hydrocephalus


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: RERs are rarely associated with carcinogenesis in human primary HCC, and RER-related genetic alterations may be associated with a part of HCC with multiple primary cancers.

RER

carcinogenesis


Input: These studies showed that, like in the mouse, human PAP7 is highly expressed in steroidogenic tissues, where it follows the pattern of PRKAR1A expression, suggesting that it participates in PRKAR1A-mediated tumorigenesis and hypercortisolism.

tumorigenesis


Input: Thus, a potential therapeutic role for CCK-A antagonists in the treatment of ethanol abuse and for CCK-B antagonists in the treatment of cocaine abuse is proposed.

CCK-A

ethanol abuse

CCK-A

ethanol abuse


Input: Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations.

SDHD

familial cancer


Input: This study provides empirical evidence for the gene-environment interactions between TNIP1/ANXA6 and alcohol use, CSMD1 and cigarette smoking, highlighting the importance of gene-environment interactions in the pathogenesis of psoriasis.

alcohol use


Input: We conclude that GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy.

central areolar choroidal dystrophy

central areolar choroidal dystrophy


Input: The analysis showed that more than 50% of these genes, particularly AKT1, BDNF, CAPON, CCKAR, CHRNA7, CNR1, COMT, DNTBP1, GAD1, GRM3, IL10, MLC1, NOTCH4, NRG1, NR4A2/NURR1, PRODH, RELN, RGS4, RTN4/NOGO and TNF, are subject to regulation by hypoxia and/or are expressed in the vasculature.

hypoxia


Input: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

mental retardation

mental retardation


Input: This study identified a mutation in the CRYAA gene causing autosomal dominant nuclear cataracts and some patients show nystagmus or small blepharophimosis clinical features.

CRYAA gene

blepharophimosis


Input: We have recently found that nonselective endothelin ETA/ETB receptor blockade markedly improves survival rate and ameliorates end-organ damage in male homozygous rats transgenic (TGR) for the mouse Ren-2 renin gene without lowering blood pressure.

renin gene

blood pressure


Input: We also observed a negative association between ADCC responses and viral load in those who carry the HLA-A * 30/B * 13/Cw * 06 haplotype.

HLA-A

viral load


Input: A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

type B Niemann-Pick disease

type B Niemann-Pick disease


Input: Over 20% of the mutations were observed in nonfamilial XLH patients, who represented de novo occurrences of PHEX mutations.

PHEX

XLH

PHEX

XLH


Input: The same HLA-DR6 subtype found at increased frequency in our patients has previously been associated with the development of a CD8 lymphocytic host response to HIV-1, termed diffuse infiltrative lymphocytosis syndrome (DILS), which resembles autoimmune Sjogren' s disease and is associated with prolonged survival.

diffuse infiltrative lymphocytosis syndrome


Input: Mutations in FGFR1/FGF8/PROKR2 contributed to 7. 8% of our patients with CPHD/SOD.

SOD

SOD


Input: In cerebrovascular diseases, heart diseases and acute digestive diseases, significant differences of EC-SOD were not observed.

EC-SOD

digestive diseases


Input: CD137 (ILA/4-1BB) is a member of the tumor-necrosis-factor receptor family.

necrosis


Input: Our data indicate that epigenetic inactivation of NORE1 due to aberrant promoter hypermethylation is a frequent event in colorectal tumorigenesis and might be implicated in the malignant progression of colorectal tumors.

tumorigenesis


Input: The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

gigaxonin

giant axonal neuropathy

gigaxonin

giant axonal neuropathy


Input: Because HLA class II molecules are predominantly expressed on hematopoietic cells, mHag-specific CD4 (+) T cells may selectively mediate graft versus leukemia (GvL) reactivity without graft versus host disease (GvHD).

leukemia


Input: In inflamed mucosa a specific expression pattern of epithelial IDO was found where epithelial cells flanking ulcers or bordering crypt abscesses showed high IDO expression.

IDO

ulcers


Input: It is possible that genetic variants of the NPY1R gene affect the NPY-NPY receptor type Y1 signaling system in the brain, which may result in susceptibility to methamphetamine dependence or the development of methamphetamine psychosis, but the present findings need to be confirmed on replication.

psychosis

psychosis


Input: Western blot analysis showed that IL-4, LPS and hypoxia increase the ALOX15B protein expression, whereas IL-13 has no effect on the protein levels.

hypoxia


Input: Our previous studies have found that rat bone marrow-derived mesenchymal stem cells (rBMSCs) transduced with a mutant caveolin-1 (F92A-Cav1) could enhance endothelial nitric oxide synthase (eNOS) activity and improve pulmonary vascular remodeling, but the potential mechanism is not yet fully explored.

endothelial nitric oxide synthase

vascular remodeling


Input: We studied expression patterns of Maspin in pTa/pT1 urothelial carcinoma of the bladder and compared them with microvessel density (MVD) for two vascular markers (CD34 and CD105) and correlated the findings with clinical outcome.

carcinoma of the bladder


Input: Cytogenetic analysis of a lumbar soft tissue Ewing sarcoma (ES) in a 7-month-old female child showed a t (17; 22) (q21; q12), a rare translocation leading to an EWSR1-ETV4 chimeric transcript.

translocation


Input: Repeated subcutaneous injections of parathyroid hormone-related protein into the hind-paw also induced hyperalgesia with increased osteoclastic bone resorption.

parathyroid hormone-related protein

bone resorption

parathyroid hormone-related protein

bone resorption


Input: Mice null for retinoic acid receptor gamma (RAR gamma) exhibit axial defects, including homeosis of several vertebrae, therefore establishing a role for this receptor in normal axial specification RAR gamma null mutants are also completely resistant to RA-induced spina bifida, which occurs in wildtype embryos treated at 8. 5-9. 0 dpc, suggesting that this receptor specifically transduces at least a subset of the teratogenic effects of retinoids.

retinoic acid receptor gamma

spina bifida


Input: When combined with Pten (phosphatase and tensin homologue) loss, double-mutant mice were prone to invasive cancer development.

tensin

cancer


Input: In order to analyze involvement of major histocompatibility complex class I chain-related gene A (MICA) and tumor necrosis factor a (TNFa) microsatellite polymorphisms as well as TNFB gene in juvenile idiopathic arthritis (JIA), we studied 128 patients divided into groups according to clinical features [monoarthritis (n = 14), oligoarthritis (n = 58), polyarthritis (n = 50), and systemic (n = 6)], and 114 age-and sex-matched healthy controls from Latvia.

MICA

monoarthritis


Input: Logistic analysis revealed that the rs12304647A > C SNP was associated with a significant protective effect against HCC in patients with chronic hepatitis (odds ratio [OR] = 0. 70, P = 0. 005 in a codominant model; OR = 0. 73, P = 0. 03 in a dominant model; OR = 0. 31, P = 0. 004 in a recessive model), and in the patients with cirrhosis (OR = 0. 63, P = 0. 0009 in a codominant model; OR = 0. 66, P = 0. 01 in a dominant model; OR = 0. 25, P = 0. 001 in a recessive model).

HCC

chronic hepatitis


Input: In both men and women, mean BMI and body weight were not significantly different among APOA4 genotypes.

body weight


Input: Carboxypeptidase 4 (CPA4) is a zinc-dependent metallocarboxypeptidase on chromosome 7q32 in a region linked to prostate cancer aggressiveness.

aggressiveness


Input: Moreover, the administration of furosemide in vivo decreased the blood pressure and increased the urine output and natriuresis in MHS rats demonstrating the actual involvement of NKCC2 activity in the pathogenesis of hypertension in this strain of rats.

blood pressure


Input: Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

cone-rod dystrophy

cone-rod dystrophy


Input: Treatment with MIB led to an induction of miR-210 expression, a hypoxia-related miRNA.

MIB

hypoxia


Input: This study also sequenced PRRT2 in 29 sporadic cases affected with PKC and identified mutations in 10 cases, including six with the c. 649dupC mutation.

sporadic


Input: On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype.

STXBP1 gene

poor eye contact


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

inflammation


Input: We established in vitro and in vivo hypoxic models to investigate the expression of beta-catenin in hypoxic HCC cells and its role in hypoxia-induced aggressiveness.

HCC

aggressiveness


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

depression

depression


Input: These data indicate that elevated concentrations of PEDF inhibit VEGF-induced retinal endothelial cell growth and migration and retinal neovascularization.

PEDF

retinal neovascularization


Input: In addition to these features of sporadic cancers, some individuals inherit mutant forms of p53 and consequently suffer from Li-Fraumeni syndrome, showing genetic predisposition to certain malignancies.

Li-Fraumeni syndrome

sporadic


Input: The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.

stature


Input: Mutation analysis at the A9 tract in exon 17 and loss of heterozygosity analysis at the EphB2 gene locus were carried out in 13 sporadic EphB2-negative gastric cancers.

sporadic


Input: Because oxidative stress inhibits the LKB1/AMPK signaling axis to promote abnormal cell growth in cancer cells, we investigated whether oxidative stress associated with hypertension also results in the inhibition of this kinase circuit to contribute to left ventricular hypertrophy.

ventricular hypertrophy


Input: Without Rb1 gene function, chromosomal aberrations are observed in retinoblastoma cells.

Rb1 gene

chromosomal aberrations


Input: Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to syncope among KCNQ1 G325R mutation carriers.

absence of symptoms


Input: However, in a previous study, DAT knockout mice were reported to self-administer cocaine, generating much debate regarding the importance of the DAT in cocaine' s abuse-related effects.

DAT

cocaine' s abuse

DAT

cocaine' s abuse


Input: Effects of mutation: Kcn1a heterozygous mice subjected to P6 hypoxia exhibited increased susceptibility to flurothyl-induced seizures at P50 as compared to Normoxia heterozygote littermates, and to wild-type Hypoxia and Normoxia mice.

hypoxia


Input: Loss of BUB3 function could contribute to chromosomal instability.

chromosomal instability


Input: Putative ATP1A1-NKCC2 gene interaction was tested by comparing hypertensive patients (blood pressure [BP] > 165/95 mm Hg) with normotensive controls age > 60 years with BP < 140/85 mm Hg.

blood pressure


Input: NDI is a disorder in which patients are unable to concentrate their urine despite the presence of AVP.

AVP

unable to concentrate


Input: These included the chemokines Cxcl9, Ccl12, Ccl8, Ccrl2, Cxcl10 and Ccl5, adhesion molecules Cd40, Cd74, and antiviral and antibacterial genes Rsad2, Mx1, Oasl1, Gbp5, Nos2, Batf2 and Tnfrsf11a.

adhesion


Input: In previous studies of associations of variants in the genes UCP2, UCP3, PPARG2, CART, GRL, MC4R, MKKS, SHP, GHRL, and MCHR1 with obesity, we have used a case-control approach with cases defined by a threshold for BMI.

GRL

obesity


Input: In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.

Ollier disease

Ollier disease


Input: Activation-induced cytidine deaminase (AID) produces widespread somatic mutation in mature B cells; however, the extent of " off-target " DSB formation and its role in translocation-associated malignancy is unknown.

AID

somatic mutation


Input: Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL.

B-CLL

B-CLL


Input: We sought to analyse the expression of the sodium (SCN5A) and potassium (KCND3) channels as well as the fibrosis content in the ventricles of human HF and of non-diseased hearts under different post-mortem intervals.

fibrosis


Input: Sildenafil and FDP-Sr, but not testosterone, attenuated the cardiac dysfunction in diabetic cardiomyopathy, without changing the metabolic abnormalities, which may results from inhibiting oxidative and inflammatory cytokines and improving calcium homeostasis.

FDP

diabetic cardiomyopathy


Input: Indeed, serum HGF concentration was significantly correlated with blood pressure, suggesting that HGF secretion might be elevated in response to high blood pressure as a counter-system against endothelial dysfunction.

HGF

blood pressure


Input: To investigate the association of XRCC1 Arg399Gln polymorphism, smoking and drinking with the risk of prostate cancer (PCa) in the population of Han nationality in Jiangsu and Anhui.

smoking


Input: These results establish a strong link between c-ROS promoter demethylation and gain of c-ROS expression and function in glioma.

ROS

glioma

ROS

glioma


Input: Secreted phospholipase A2 group X (sPLA2-X) plays a key role in regulating eicosanoid formation and the development of inflammation and AHR in murine models.

phospholipase A2 group X

inflammation


Input: PP2A-Bgamma subunit and KCNQ2 K + channels in bipolar disorder.

bipolar disorder

bipolar disorder


Input: The objective of this study was to establish a classification of meiotic disorders by detection of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and cyclin A1 mRNA in patients presenting with non-obstructive azoospermia.

cyclin A1

non-obstructive azoospermia


Input: Role of the pentanucleotide (tttta) (n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism.

hirsutism


Input: However, there is significant evidence of heterogeneity of risk between families; a much better fit to the data is obtained by assuming two BRCA1 alleles, one conferring a breast cancer risk of 62% and an ovarian cancer risk of 11% by age 60 years, the other conferring a breast cancer risk of 39% and an ovarian cancer risk of 42%, with the first allele representing 71% of all mutations (95% CI 55%-87%).

fit


Input: Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

gray platelet syndrome

gray platelet syndrome


Input: Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.

factor VIII

lamellar ichthyosis


Input: In hypoxia, mRNA expression of OXCT1, ACAT1, BDH1 and 2 was downregulated.

hypoxia


Input: We investigated the role of genetic variation in CD40 and CD40L genes in subclinical atherosclerosis assessed by coronary artery calcification (CAC) and carotid intima-media thickness in 620 individuals from 230 families in the DHS.

coronary artery calcification


Input: The objective of this study was to determine differential expression of POSTN, IL-4, and IL-13 genes in the mucosa and polyps of 63 patients with CRSwNP and 23 chronic rhinosinusitis (CRS) without nasal polyps (CRSsNP) when compared with patients with nasal septum deviation (n = 18) who were used as controls.

POSTN

nasal septum deviation


Input: In contrast, a range of c-jun, jun-B, and c-fos RNA transcript levels was detected in metastatic melanoma cell strains cultivated in medium with or without serum.

c-jun

metastatic melanoma


Input: Moreover, multivariate Cox-regression model showed the combined expression of S100P and HYAL2 as independent prognostic factor for PFS (P = 0. 001).

regression


Input: Although SAT RBP4 expression and the plasma RBP4 level demonstrated no significant relationship with body mass index or S (I), there was a strong positive correlation between RBP4 mRNA and adipose inflammation (monocyte chemoattractant protein-1 and CD68), and glucose transporter 4 mRNA.

monocyte chemoattractant protein-1

body mass index


Input: We hypothesized that brain aneurysms more prone to rupture may be identified on the basis of an individual' s genotype for endothelial nitric oxide synthase (eNOS), a critical vasomodulatory protein found to be increasingly relevant to the pathobiology of aneurysms.

endothelial nitric oxide synthase

aneurysms


Input: We describe a long-term non-progressive injecting drug user (IDU) who was infected with human immunodeficiency virus type-1 (HIV-1) in 1984, and has survived with stable CD4 + T-cell counts (> 800/microliters blood) without any acquired immune deficiency syndrome (AIDS) related illness.

non-progressive


Input: A total of 56 B-cell malignancies with a FISH-proven BCL3 involvement were identified with the translocation partners being IGH (n = 51), IGL (n = 2), IGK (n = 2) and a non-IG locus (n = 1).

translocation


Input: T-2 weighted magnetic resonance imaging (MRI) at 8 weeks showed increased signal intensity compatible with inflammation in several pelvic limb muscles.

MRI

inflammation


Input: In this study, we identified the mRNA of the basic helix-loop-helix transcription factor human achaete-scute homologue-1 (hASH1 or ASCL1), which is required for normal development of the nervous system and has been implicated in the formation of neuroendocrine tumors, as a new FMRP target.

FMRP

nervous system


Input: Taken together, our data suggest that some less severe or late-onset forms of X-ALD associated with splice mutations result from the production of small amounts of normal ALDP.

ALDP

X-ALD

ALDP

X-ALD


Input: In conclusion, we provide the first evidence that de-regulated Jak3/STAT3/STAT5 signalling in CTCL cells represses the expression of the gene encoding miR-22, a novel tumor suppressor miRNA.

CTCL

CTCL


Input: We also found that REDD1 levels are increased in the postmortem PFC of human subjects with MDD relative to matched controls.

MDD

MDD


Input: In the ACC 6 metallothionein genes were down-regulated in suicide (MT1E, MT1F, MT1G, MT1H, MT1X, MT2A) and three were down-regulated in the NAcc (MT1F, MT1G, MT1H).

suicide


Input: Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

fumarylacetoacetate hydrolase

Hereditary tyrosinemia type 1

fumarylacetoacetate hydrolase

Hereditary tyrosinemia type 1


Input: LDLR-deficient cells transduced by recombinant adenovirus containing human LRP5 exhibited increased binding of apolipoprotein E (apoE)-enriched beta-migrating very low density lipoprotein.

LDLR

adenovirus


Input: ALT showed significant positive correlations with body mass index, waist circumference, beta-cell function, insulin, homeostasis model assessment for insulin resistance, high-sensitivity C-reactive protein, total cholesterol, and triglycerides and increased with increasing number of metabolic syndrome components.

C-reactive protein

insulin resistance


Input: Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Birk Barel mental retardation dysmorphism syndrome

Birk Barel mental retardation dysmorphism syndrome


Input: Mice with EC deletion of BMPR2 develop hypoxia-induced pulmonary hypertension that, in contrast to non-transgenic littermates, does not reverse upon reoxygenation and is associated with reduced PA microvessels and lung EC p53, PGC1α and TFAM, regulators of mitochondrial biogenesis, and mitochondrial DNA.

TFAM

hypoxia


Input: Furthermore, MGMT hypermethylation was found in 5. 7% of normal esophageal smooth muscle tissue, in 20. 0% of esophageal squamous epithelium and in 61. 5% of nonneoplastic Barrett' s mucosa.

MGMT

esophageal


Input: In vitro exposure of cardiac fibroblasts to hypoxia resulted in transdifferentiation to myofibroblasts (a scarring phenotype), as demonstrated on immunoblots and immunofluorescence by increased expression of smooth muscle actin (SMA), an effect not seen in lung fibroblasts.

smooth muscle actin

scarring


Input: Matrilysin mRNA was not detected in normal colorectal mucosa from patients with either sporadic or familial adenomas.

Matrilysin

sporadic


Input: Niemann-Pick disease, type C1 (NPC1), which arises from a mutation in the NPC1 gene, is characterized by abnormal cellular storage and transport of cholesterol and other lipids that leads to hepatic disease and progressive neurological impairment.

NPC1 gene

neurological impairment


Input: Upregulation of HO-1 by hemin, which is also a substrate attenuates thrombosis in rodent models, however, whether protection is due to HO-1 upregulation or to increased substrate availability is unknown.

HO

thrombosis

HO

thrombosis


Input: In this paper, we report the identification of a new OATP1B3 mRNA isoform expressed in human colon and lung cancer tissues, which we named cancer-type OATP1B3 (Ct-OATP1B3).

lung cancer

lung cancer


Input: TLR4-mediated inflammation is a key pathogenic event leading to kidney damage and fibrosis in cyclosporine nephrotoxicity.

fibrosis

fibrosis


Input: Because (Lys15, Arg16, Leu27) VIP1-7GRF8-27 (VPAC1 selective) but not Ro25-1553 (VPAC2 selective) inhibited specific 125I-VIP binding to mammary tumor membranes with high affinity, VPAC1 receptors predominate.

VIP

mammary tumor


Input: IFNAR (-/-) mice intraperitoneally inoculated twice with BoHV-4-A-IgK-VP2gDtm at different time points developed serum neutralizing antibodies against BTV and showed a strongly reduced viremia and a longer survival time when challenged with a lethal dose of BTV-8.

IgK

viremia


Input: ATP or UTP released from hypoxia-treated MDA-MB-231 cells induced HIF-1α expression and LOX secretion by the activation of P2Y2R, and this phenomenon was significantly reduced in P2Y2R-depleted MDA-MB-231 cells.

LOX

hypoxia


Input: In this review, we outline the function of PGC-1 coactivators in physiological and pathological conditions as well as the complex interplay of metabolic dysregulation and inflammation in obesity with special focus on skeletal muscle.

PGC

inflammation


Input: Thus increased expression of OPN may play a deleterious role during streptozotocin-induced diabetic cardiomyopathy with effects on cardiac fibrosis, hypertrophy, and myocyte apoptosis.

OPN

diabetic cardiomyopathy

OPN

diabetic cardiomyopathy


Input: Instead, beta-catenin is involved in N-cadherin-dependent adherence junctions, suggesting for the first time that leukemia-stroma interactions may be mediated via an N-cadherin-dependent mechanism.

N-cadherin

leukemia


Input: The mean +/-SD for 1-6 FucT activity was 78 +/-41 pmol/h/mg in normal control liver, 202 +/-127 pmol/h/mg in adjacent uninvolved liver tissues (chronic hepatitis: 181 +/-106 pmol/h/mg; liver cirrhosis: 233 +/-164 pmol/h/mg), and 195 +/-72 pmol/h/mg in HCC tissues.

HCC

chronic hepatitis


Input: When we looked for those genes progressively modulated through the evolving stages of monoclonal gammopathies, eight snoRNA showed a progressive increase while APAF1, VCAN and MEGF9 exhibited a progressive downregulation.

VCAN

monoclonal gammopathies


Input: The comparison between the two different populations did not show any significant difference regarding BRCA2 methylation but exhibited a trend in the decrease of BRCA2 promoter methylation in peripheral blood DNA of sporadic ovarian cancer.

sporadic


Input: In summary, we observed a point mutation in the signal peptide-encoding region of a preproPTH gene in one FIH kindred and demonstrated a functional defect caused by the mutation.

preproPTH

FIH

preproPTH

FIH


Input: Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.

psychosis

psychosis


Input: Instead, hypoxia-induced C4. 4A up-regulation promoted in vivo and in vitro wound healing, where increased migration on the C4. 4A ligands laminin-111 and-332 was observed after a transient period of pronounced binding.

C4. 4A

hypoxia


Input: Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson' s chorioretinal atrophy.

Sveinsson' s chorioretinal atrophy

Sveinsson' s chorioretinal atrophy


Input: These studies demonstrate that IFN-gamma is essential for control of chronic vascular pathology induced by gammaHV68 and suggest gamma-herpesviruses as candidate etiologic agents for human vasculitis.

IFN

vasculitis


Input: These results strongly indicate that CHRNA SNPs confer lung cancer susceptibility in a small subset of Japanese in a smoking-independent manner.

CHRNA

smoking


Input: Increased expression and activity of 12-lipoxygenase in oxygen-induced ischemic retinopathy and proliferative diabetic retinopathy: implications in retinal neovascularization.

retinal neovascularization


Input: From JAK2-V617F analysis, hemoglobin and hematocrit values were significantly higher and platelet count was lower in JAK2-V617F high allele burden group than JAK2-V617F middle allele burden group.

hemoglobin


Input: CTL from 20 day PR1 peptide-pulsed lymphocyte cultures showed 89% to 98% HLA-A2. 1-restricted colony inhibition of chronic myeloid leukemia targets.

chronic myeloid leukemia


Input: Further, the relation between breast cancer risk and SHBG rs6259 was found to vary by body mass index (weight (kg)/height (m) (2)) (P for interaction = 0. 003).

SHBG

body mass index


Input: The purpose [corrected] of this study was to investigate the relationship between bipolar disorder and the harm avoidance personality trait (HA), and the genetic contribution of the polymorphic DNA variation T102C in exon 1 of 5-HTR2a (chromosome 13q14-21) in bipolar disorder and HA personality trait.

personality trait


Input: The cyclin D1, referred to as PRAD-1, has been mapped to the 11q13 region, and its expression has been detected in squamous cell lines and several primary esophageal carcinomas.

cyclin D1

esophageal


Input: In autopsied brains from patients with psychosis and substance abuse, change in subcellular distribution of DISC1 is observed.

substance abuse


Input: Data about p53 condition in sporadic colorectal cancer and its impact on clinical features is controversial, and studies regarding N-myc gene in colorectal cancer are limited in number.

sporadic


Input: Although it did not alter the amino acid sequence, SREBP-1c-3' 322C/G was predictive of highly active antiretroviral therapy-related hyperlipoproteinaemia.

hyperlipoproteinaemia


Input: RCC4 and 786-O renal cancer cell lines transfected with either an empty vector or functional VHL and incubated in normoxia or hypoxia were examined for miR-210 expression.

renal cancer


Input: These data could suggest that abnormal myocardial LCFA metabolism seen in HCM patients may be related to abnormality of the CD36 molecule, and that abnormalities of this molecule may be linked to the cause of some types of HCM.

CD36 molecule

abnormalities


Input: Rs1800697 and rs1800797 in the IL6 gene, rs8192284 in the IL6R gene, and rs4073 in the IL8 gene were not associated with the development of delirium.

delirium

delirium


Input: These data are consistent with our previous findings linking NGF and APP signaling and suggest a causal relationship between altered synaptic connectivity, cholinergic tone depression and TrkA signaling deficit, and cognitive and neuromuscular decline in APP (YG/YG) mice.

NGF

depression

NGF

depression


Input: The LMNA Δ150 progerin transcript has also been found in trace quantities in tissues of healthy people and its implication in' natural' ageing has been proposed.

progerin

ageing


Input: Recent molecular biological studies have revealed that EPPK is caused by mutations of the keratin 9 gene in sequences mainly encoding the highly conserved 1 A rod domain.

keratin 9

EPPK

keratin 9

EPPK


Input: Therefore, BMP7-Smad4-Id2 signaling may play a significant role in the development of colorectal carcinoma.

colorectal carcinoma


Input: MS was defined as ≥ 3 abnormalities among 6 MSC measures: waist circumference, systolic and/or diastolic blood pressure, fasting insulin, triglycerides, HDL-cholesterol, and fasting and/or 2-h OGTT glucose.

MSC

abnormalities


Input: Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated.

PCOS

PCOS


Input: Activity (transcription) of the genes for MLH1, MSH2 and p53 in sporadic colorectal tumours with micro-satellite instability.

sporadic


Input: Anti-β (2) GPI peptide Abs induced activation of TLR4 and triggered interleukin-1 receptor-associated kinase phosphorylation and NF-κB translocation, promoting VCAM expression on endothelial cells and TNF-α release by monocytes.

TNF-α

translocation


Input: Cell enriched for high VEGFR1 expression showed increased VEGF production, tumor growth, tumor angiogenesis, and osteolysis in vivo.

osteolysis


Input: In this report, we identified a solid role for mda-7/IL-24 in invasion inhibition of human melanoma cancer LiBr cells, including decreasing of adhesion and invasion in vitro, blocking cell cycle, down-regulating the expression of ICAM-1, MMP-2/9, CDK1, the phosphorylation of ERK and Akt, NF-κB and AP-1 transcription activity.

NF-κB

adhesion


Input: The expression of HOXA10 was deregulated in endometrial carcinomas and up-regulated by sex hormones.

endometrial carcinomas

endometrial carcinomas


Input: This suggested translocation of the abnormally bound VWF from the platelet surface.

VWF

translocation


Input: Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

myotubularin

X-linked myotubular myopathy

myotubularin

X-linked myotubular myopathy


Input: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels.

sclerosis


Input: As another new mechanism underlying MSI, overexpression of miR-155 or miR-21 has been shown to downregulate the expression of the MMR genes.

MSI

MSI


Input: This cAMP-dependent Cl (-) conductance detected in homozygous NCC could be due to a residual CFTR activity and may explain the mild phenotypes observed in some (Delta) F508 homozygous patients.

NCC

mild


Input: We have reported an expanded pool of CD4 (+) CD25 (high) T (reg) cells in patients with chronic lymphatic leukemia (CLL), multiple myeloma (MM) as well as its premalignant precursor monoclonal gammopathy of undetermined significance (MGUS).

premalignant


Input: These data suggest that IL-10 limits the inflammatory hyperalgesia evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of IL-1 beta evoked PGE2 production.

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: The IL-4Rα, IL-13, IL-13Rα1, CD14, and CTLA4 polymorphisms were selected as the best model of increased total serum IgE levels in non-atopic and atopic asthma (asthma: accuracy = 0. 4726, CVC = 10/10; atopic asthma: accuracy = 0. 4573, CVC = 10/10).

atopic