Input: Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

RING-B-box-Coiled-coil protein

mulibrey nanism

RING-B-box-Coiled-coil protein

mulibrey nanism


Input: The deleted are encompassed the p27KIP1 gene locus in 10 cases, but inactivation of the remaining allele by deletion, translocation, or mutation was never observed.

translocation


Input: FIGO stage (P = 0. 014), residual disease (P = 0. 042), histological grade (P = 0. 028), Ang-1/Ang-2 gene expression ratio (P = 0. 010), and combination of Ang-1/Ang-2 gene expression ratio and VEGF gene expression (P = 0. 019), were found to be significantly associated with a poor prognosis in univariate Cox regression analysis.

VEGF

residual disease


Input: To explore a possible relationship between this phenotype and BRCA1 mutations, we first compared 32 BRCA1-BCs and 200 consecutive cases of breast cancer without familial history for the prevalence of typical medullary breast carcinoma (TMC) using the criteria given by Ridolfi et al.

TMC

breast cancer


Input: Manipulation of Hopx function in murine models is associated with cardiac hypertrophy, dilation and fibrosis.

Hopx

dilation


Input: In South Asia, as the transmission of VL is anthroponotic, PKDL patients are the proposed disease reservoir, thus assuming epidemiological significance, its eradication being linked to the control of leishmaniasis.

PKDL

leishmaniasis


Input: These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility.

BP

BP


Input: Patients with deregulated HMGA2 mRNA expression were significantly more likely to show splenomegaly, high serum lactate dehydrogenase values, and methylation of the CDKN2A promoter compared with other patients without deregulation of HMGA2.

splenomegaly


Input: Our results suggest that B-FABP expression in malignant glioma lines is determined by the extent of NFI phosphorylation which, in turn, is controlled by a phosphatase activity specific to B-FABP (+) lines.

NFI

malignant glioma


Input: We specifically demonstrate that loss of CTCF at a domain boundary permits a constitutive enhancer to interact aberrantly with the receptor tyrosine kinase gene PDGFRA, a prominent glioma oncogene.

CTCF

glioma


Input: Thus, our data uncovered CCN5 as a novel transcriptional repressor that plays an important role in regulating tumor progression functioning, at least in part, by inhibiting the expression of genes involved in the TGF-β signaling cascade that is known to promote EMT.

EMT

tumor progression


Input: Next, we tested the in vitro effect of hypoxia and vascular endothelial growth factor (VEGF) on the expression of CXCR4 in glioma cell lines and in human brain microvascular endothelial cells (HBMECs).

VEGF

hypoxia


Input: ERBB2-induced inflammation in lung carcinogenesis.

inflammation


Input: Conclusively, the establishment of MO-LAS, a novel angiosarcoma cell line bearing lymphatic characters, strongly suggests the entity of lymphangiosarcoma.

LAS

angiosarcoma


Input: This further highlights the importance of EPLIN in regulating prostate cancer cell growth and aggressiveness, and suggests a possible connection between EPLIN and paxillin.

EPLIN

aggressiveness


Input: Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


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

ovarian cancer

ovarian cancer


Input: We have analyzed the effect of solute carrier family 2 (facilitated glucose transporter), member 1 polymorphisms on 2-[fluorine-18]-fluoro-2-deoxy-D-glucose-uptake with a combination of polymorphisms of hypoxia-inducible factor 1 alpha, apurinic/apyimidinic endonuclease, and vascular endothelial growth factor A in a hypoxia-related pathway.

vascular endothelial growth factor A

hypoxia


Input: PTI-1 may be a member of oncogenes that could affect protein translation and contribute to carcinoma development in human prostate.

PTI

carcinoma


Input: OTX015 displayed higher antiproliferative effects compared to its analog JQ1, with GI50 values of approximately 0. 2 & #181; M. In addition, C-MYC and CDKN1A mRNA levels increased transiently after 4 h-exposure to OTX015, while BRD2, SESN3, HEXIM-1, HIST2H2BE, and HIST1H2BK were rapidly upregulated and sustained after 24 h. Studies in three additional GBM cell lines supported the antiproliferative effects of OTX015.

GBM

GBM


Input: Beside MLL translocations, fluorescence in situ hybridization analysis demonstrated monosomy or trisomy of MLL in 8-10% of the quercetin-exposed CD34 (+) cells.

trisomy


Input: Twelve of 27 UUT tumors were MMR-deficient and showed microsatellite instability.

MMR

microsatellite instability


Input: Our results show that expression of a chimeric transcription factor encoded by the tumor related chromosomal translocation (8; 21) involving the AML1 and ETO loci is sufficient to cause reorganization of PML domains.

chromosomal translocation


Input: A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a gain of function mutation in MSX2.

coronal synostosis


Input: Here we show that vascular endothelial growth factor (VEGF; also known as vascular permeability factor) probably functions as a hypoxia-inducible angiogenic factor.

VEGF

hypoxia


Input: At 1. 3 to 1. 7 percent residual moisture of fibrinogen, the infectivity of B19 was reduced dramatically by 3. 3 to 5. 1 log for 1 and 2 hours of dry-heat treatment, respectively.

fibrinogen


Input: The resulting VHL gene silencing leads to induction of hypoxia-regulated genes including vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: After adjustment for drinking and smoking, the analysis showed significantly increased cancer risk for alcoholics with either ADH2 * 1/2 * I (OR = 2. 03) or ALDH2 * 1/2 * 2 (OR = 12. 76).

smoking


Input: However, fluorescence in situ hybridization studies revealed the involvement of chromosome 21 in the translocation and presence of the AML1-ETO chimeric gene.

translocation


Input: To investigate the role of TL1A and DR3 in the functioning of macrophage/foam cells in relation to atherogenesis, we have analyzed cellular events mediated by TL1A and DR3 in a human macrophage-like cell line, THP-1.

foam cells


Input: Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.

IBS

IBS


Input: siRNA-induced inhibition of neovascularization required a minimum length of 21 nucleotides, a bridging necessity in a modelled 2: 1 TLR3-RNA complex.

neovascularization


Input: With the exception of the Gly16Arg polymorphism in the ADRB2 gene in men (P = 0. 04) and women (P = 0. 05), and the Lys109Arg polymorphism in the LEPR gene in women, no statistically significant differences in the genotype and allele frequencies were observed between weight gainers and non-weight gainers.

LEPR gene

weight


Input: Of particular interest, one boy had a 240 kb deletion in Xq28 encompassing CXorf6 (formerly F18), MTM1 and MTMR1 but was not accompanied by hypogenitalism.

hypogenitalism


Input: The frequency of EGFR mutations was significantly higher in well to moderately differentiated adenocarcinomas from non-smoking female patients.

EGFR

smoking


Input: Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer.

MASPIN

breast cancer

MASPIN

breast cancer


Input: The pathogenesis of primary carcinoma of the fallopian tube (PCFT) is poorly understood.

PCFT

primary carcinoma


Input: All patients and 200 asymptomatic control subjects were genotyped for TLR-4 substitutions using polymerase chain reaction-restriction fragment length polymorphism.

asymptomatic


Input: Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup (17) (p11. 2p11. 2) syndrome.

neuropathy


Input: These findings correlated with a high LT viral load, strong p24 expression, and an effacement of LT immunoarchitecture with a low number of CD4 + cells.

viral load


Input: SelN-devoid myotubes showed also Ca (2 +) homeostasis abnormalities suggesting dysfunction of the redox-sensor Ca (2 +) channel ryanodine receptor type 1.

SelN

abnormalities


Input: We induced HLJ1 overexpression or knockdown in human lung adenocarcinoma CL1-5 cells and analyzed cell proliferation, anchorage-independent growth, in vivo tumorigenesis, cell motility, invasion, and cell cycle progression.

lung adenocarcinoma


Input: These results may provide a mechanism for PTTG-induced tumorigenesis whereby PTTG mediates aneuploidy and subsequent cell transformation.

PTTG

aneuploidy


Input: Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.

alcohol dependence

alcohol dependence


Input: Several studies have demonstrated that IL-17F plays a pivotal role in allergic airway inflammation and induces several asthma-related molecules such as CCL20.

inflammation


Input: After anesthesia, modified Schirmer tests were performed on IRP rats and Sprague Dawley (SD) rats to measure tear function.

IRP

anesthesia


Input: Apolipoprotein E (apoE) was decreased in lipoprotein fractions in NS, but not in analbuminemia.

Apolipoprotein E

analbuminemia


Input: 1337 African-Americans and 1645 Whites from the CARDIA study were genotyped for 22 and 15 EPHX2 single nucleotide polymorphisms (SNPs), respectively, to examine the associations of common EPHX2 haplotypes and genotypes with presence of coronary artery calcified plaque (CAC).

CAC

plaque


Input: Over-expression of miR-22 inhibits HIF-1α expression, repressing vascular endothelial growth factor (VEGF) production during hypoxia.

VEGF

hypoxia


Input: These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important.

CD25 deficiency

CD25 deficiency


Input: Role of LKB1 as a major actor of the AMPK/mTOR pathway connecting cellular metabolism, cell growth and tumorigenesis has been extensively studied probably to the detriment of other functions of equal importance.

tumorigenesis


Input: SCF (JFK) is a bona fide E3 ligase for ING4 and a potent promoter of the angiogenesis and metastasis of breast cancer.

JFK

metastasis


Input: There were no significant differences in mRNA and protein levels of MARCKS between suicide subjects and controls.

MARCKS

suicide


Input: We observed a significant increase in the number subjects carrying the NAT1 * 10 allele of the N-acetyl transferasel (NAT1) gene in controls with a MAST-R score of & gt; or = 4 and in subjects with drug and/or alcohol dependence (p = 0. 003), compared with controls with a MAST-R & lt; 4.

MAST

alcohol dependence

MAST

alcohol dependence


Input: The unexpected opposing cell biological effects of EGFR-RasGRP1 and EGFR-SOS1 signals in the same cell shed light on the intricacy of EGFR-Ras signalling in normal epithelium and carcinoma.

carcinoma


Input: The higher interaction between GR and HSP70 and the disturbances in the relations among heat shock response parameters and GR as observed in our BD patients may provide novel insights into the contribution of these factors in BD aetiopathogenesis.

BD

BD


Input: Relative frequencies of fresh CD4 + and CD8 + T cells that bound annexin V, an early indicator of programmed cell death, or propidium iodide, an indicator of cell necrosis, were greater in XCIDL--> Q271 T cells than in normal fresh T cells.

annexin V

necrosis


Input: However, expression of TIM-1 and-3 is not restricted solely to T cells and the presence of TIM-3 in resident CNS cells may indicate a role for this molecule in the interaction between the nervous and immune systems.

nervous


Input: GKT137831 attenuated hypoxia-induced H (2) O (2) release, proliferation, and TGF-β1 expression and blunted reductions in PPARγ in HPAECs and HPASMCs in vitro.

PPARγ

hypoxia


Input: These findings point to EIF2AK4 as the major gene that is linked to PVOD development and contribute toward an understanding of the complex genetic architecture of pulmonary hypertension.

pulmonary hypertension

pulmonary hypertension


Input: These findings support a suppressor role for TSSC3 in osteosarcoma development by regulating apoptosis.

osteosarcoma

osteosarcoma


Input: Activation of this HO-1-MnSOD axis may play an important role in the pathogenesis of Alzheimer disease, Parkinson disease and other free radical-related neurodegenerative disorders.

neurodegenerative disorders

neurodegenerative disorders


Input: Riluzole' s therapeutic potential for treating mood disorders may involve GLT-1 and BDNF, and we suggest this protocol could be used to further characterize its precise long-term biochemical mechanisms of action in animal models of depression.

depression

depression


Input: Our results showed that reintroduction of the MMAC/PTEN gene into human glioma U251 and U87 cells modified their phenotype and growth characteristics.

glioma


Input: We used morpholino antisense oligomers to downregulate human MK expression in human prostate (PC-3) and colon carcinoma (SW620) cells, and determined the practical advantages of this anticancer therapeutic.

colon carcinoma


Input: Inhibition of REST did not affect EWS-FLI-1, but significantly suppressed tumor growth in vivo, reduced the tumor vessel pericyte markers α-smooth muscle actin (SMA) and desmin, increased hypoxia and apoptosis in tumor tissues, and decreased the expression of delta-like ligand 4 (DLL4) and Hes1.

hypoxia


Input: We found that the diabetic mice receiving NGF gene transfer via either AAV2 or AAV9 were spared the progressive deterioration of cardiac function and left ventricular chamber dilatation observed in β-Gal-injected diabetic mice.

NGF gene

dilatation


Input: We conclude that the chromosomal translocation t (11; 14) leads to an abnormal protein expression of cyclin D1 in the tumor cells of MCL and induces a consecutive downregulation of cyclin D3.

cyclin D3

chromosomal translocation


Input: The down-regulation of the neuropilin-1 transcripts by short interfering RNA caused spontaneous synoviocyte apoptosis, which was associated with both the decrease in Bcl-2 expression and the increase in Bax translocation to mitochondria.

translocation


Input: Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.

FOP

FOP


Input: To investigate the alteration of plasma and lung tissue homogenate urotensin II (U-II), nitric oxide (NO) and C-type natriuretic peptide (CNP) levels in rats with hypoxia-induced pulmonary hypertension (HPH) and to study the role of these factors and oxygen treatment in the development of HPH.

CNP

pulmonary hypertension


Input: Our results provide evidence that Rsf-1 expression is primarily confined to high-grade serous carcinoma, the most aggressive ovarian cancer.

serous carcinoma


Input: The t (12; 21) translocation resulting in TEL/AML1 gene fusion is present in approximately 25% of patients with precursor B-lineage pediatric acute lymphoblastic leukemia (ALL).

translocation


Input: Taken together, our data suggest that CLU may regulate EMT and aggressive behaviour of human lung adenocarcinoma cells through modulating ERK signalling and Slug expression.

CLU

aggressive behaviour


Input: Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.

Depression

Depression


Input: We examined 42 adult patients with B-cell lineage ALL and 13 adult patients with lymphoblastic transformation of chronic myeloid leukemia (CML) to detect TEL/AML1 fusion genes using the reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blotting, but no translocation was detected.

translocation


Input: Detection of germline DICER1 gene mutations in familial MNG with and without SLCT.

SLCT

SLCT


Input: dementia risk conferred by apolipoprotein-E (APOE) and angiotensin-1-converting enzyme (ACE) polymorphisms have been reported for the MRC Cognitive Function and Ageing Study (CFAS) at 6-year follow-up.

MRC

dementia


Input: Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD).

ERG

cognitive dysfunction


Input: Our data demonstrate that HMGB1 binds to Gadd45a and may be involved in DNA demethylation in CD4 (+) T cells during lupus flare.

lupus flare


Input: To test this hypothesis, metallothionein promoter-driven, human growth hormone-releasing hormone (MT-hGHRH) transgenic mice, that exhibit somatotrope hyperplasia before 9 months of age and subsequent adenoma formation with 30-40% penetrance, were crossbred with p27 +/-mice for two successive generations to produce p27 +/+, p27 +/-and p27-/-mice that expressed the hGHRH transgene.

hyperplasia


Input: In a syngeneic aortic transplantation model in which wild-type or AIP1-knockout mouse aortas were transplanted into IFN-γR-deficient recipients and in which neointima formation was induced by intravenous administration of an adenovirus that encoded a mouse IFN-γ transgene, donor grafts from AIP1-knockout mice enhanced IFN-γ-induced VSMC proliferation and neointima formation.

adenovirus


Input: IGF-I and IGF-II resistance was present in DLB but not PD frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity.

glial fibrillary acidic protein

PD

glial fibrillary acidic protein

PD


Input: In this direction, a systematic revision of these data should shed more light on the role of this polymorphism in chronic liver diseases and HCC.

HCC

liver diseases


Input: To elucidate the etiological role of the STK11 gene in sporadic gastric carcinoma tumorigenesis, we analyzed 28 gastric carcinomas (22 of intestinal type and 6 of diffuse type) for STK11 gene mutations.

STK11 gene

tumorigenesis


Input: Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

pituitary hormone deficiency


Input: We present a case of TNHP caused by & lt; i & gt; TRPV6 & lt;/i & gt; gene mutations.

TNHP

TNHP


Input: These findings demonstrate that JNK1 translocates to the nucleus during ischemia without activation and is then activated during reperfusion, probably by SEK1 in the nucleus.

ischemia


Input: Our findings suggest that patients with MNGIE who have normal thymidine levels should be tested for RRM2B mutations.

MNGIE

MNGIE


Input: Consistently, the expression of PICK1 correlated with histological grade, lymph node metastasis, Her-2/neu-positivity, and triple-negative basal-like breast cancer.

lymph node metastasis


Input: METHODS: Six EGF family peptides and a truncated EGF receptor splice variant (p110/EGFR) were examined using immunohistochemistry in the trophoblast of placentas (N = 76) from women with preeclampsia, and compared to placentas from women of similar gestational age (GA) with preterm labor (PTL) or small for gestational age (SGA) fetuses, as well as normal term placentas.

EGFR

small for gestational age


Input: The epithelial-to-mesenchymal transition (EMT) is the most critical mechanism implicated in tumor progression that is controlled by the inflammatory microenvironment.

EMT

tumor progression


Input: Inhibition of dysregulated Ras/Raf/ERK signaling may be useful in reversing vascular remodeling in PAH.

ERK

vascular remodeling


Input: Notably, NRF2-inhibited cancer cells failed to accumulate HIF-1α protein under hypoxic conditions, limiting expression of VEGF and other HIF-1α target genes.

VEGF

hypoxic


Input: Androgen induces expression of the multidrug resistance protein gene MRP4 in prostate cancer cells.

prostate cancer

prostate cancer


Input: Severe hypoxia (0. 2% O2), but not moderate hypoxia (5% O2) raised VEGF mRNA expression and protein secretion in 7/9 and 5/9 cell lines, respectively.

VEGF

hypoxia


Input: Placenta samples (n = 72) derived from common gestational diseases, including pre-eclampsia (PE), HELLP, intrauterine growth restriction (IUGR), intrahepatic cholestasis of pregnancy and gestational diabetes, were assessed for their ABCA1 and ABCG1 expression levels and compared to age-matched control placentas with qRT-PCR and immunohistochemistry.

intrahepatic cholestasis of pregnancy


Input: We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.

GALT

GALT deficiency

GALT

GALT deficiency


Input: Mutation analysis followed by a complementation study in yeast permitted us to ascribe the COX deficiency to a homozygous missense mutation in the COX10 gene.

COX deficiency

COX deficiency


Input: Catalepsy, hypermotility, increase of striatal acetylcholine release induced by morphine and Met-enkephalin as affected by prolonged hydrocortisone and ACTH treatment.

Met-enkephalin

Catalepsy

Met-enkephalin

Catalepsy


Input: The transcriptional potential of the oncostatin M-activated Stat molecules was demonstrated in two glioma cell lines (U87-MG, SNB-19) by transient transfection experiments using a Stat-responsive reporter plasmid.

glioma


Input: Grade of ITPA deficiency was not associated with RbvDR (no deficiency: 60%, mild: 58%, moderate: 67%; p = ns), EPO use (no deficiency: 65%, mild: 58%, moderate: 56%; p = ns) or need for blood transfusion (no deficiency: 27%, mild: 17%, moderate: 33%; p = ns).

EPO

mild


Input: Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

Golabi-Ito-Hall syndrome

Golabi-Ito-Hall syndrome


Input: There was no association between levels of methylation in tumour and non-neoplastic skin for the genes MGMT and p16.

MGMT

non-neoplastic


Input: The c. C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA.

ADOA

ADOA


Input: Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

lateral meningocele syndrome

lateral meningocele syndrome


Input: Collectively, these results reveal for the first time that interactions between AT (1) and 5-HT (2B) receptors coexpressed by noncardiomyocytes are limiting key events in adrenergic agonist-induced, angiotensin-dependent cardiac hypertrophy.

5-HT (2B

cardiac hypertrophy

5-HT (2B

cardiac hypertrophy


Input: While a few recent reports have emerged analyzing ectopic HGFL overexpression of in cancer cells, no studies have examined host-produced HGFL in tumorigenesis.

HGFL

tumorigenesis


Input: We analysed polymorphisms in APOA5, hepatic lipase and PPARγ genes and investigated their association with birth weight and serial changes in BMI.

birth weight


Input: Polymorphisms in FLNB/CRTAP are associated with bone mineral density (BMD) in Chinese.

FLNB

bone mineral density


Input: METHODS: The expression of SNCG, MAP2, SDF-1 and CXCR4 was detected by SP immunohistochemical method in 225 cases of gastric adenocarcinoma and 105 cases of nonneoplastic adjacent gastric tissue.

SNCG

gastric adenocarcinoma


Input: Together, these data suggest that Perrault syndrome in this family was caused by reduction of HARS2 activity.

Perrault syndrome

Perrault syndrome


Input: LMO7b phosphorylation was blocked by exposing the cells to the JNK inhibitor SP600125 and by infecting cells with dominant-negative JNK or AMPK adenovirus.

adenovirus


Input: The following genes exhibited moderate changes in methylation: O-6-methylguanine-DNA methyltransferase (MGMT) (20%, 13/65), mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (hMLH1) (18%, 12/65), cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (p16 (INK4a)) (10%, 10/65), methylated in tumor 1 (MINT1) (15%, 10/65), methylated in tumor 31 (MINT31) (11%, 7/65).

colon cancer


Input: Death ligands such as tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) and certain forms of CD95L are attractive therapeutic options for metastatic melanoma.

TRAIL

metastatic melanoma


Input: The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).

translocation


Input: Haplotype analysis of five FOXP3 polymorphisms identified a haplotype CTTGA associated with endometriosis and ACTAG associated with idiopathic infertility.

infertility


Input: The aim of this study was to localize expression and biological activity of PAR-1 and PAR-2 in normal and pathological cutaneous scars.

scars


Input: Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) account for 4-5% of familial cases of amyotrophic lateral sclerosis (ALS).

RNA-binding protein

sarcoma


Input: The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration.

Walker-Warburg syndrome

Walker-Warburg syndrome


Input: Taken together, these data demonstrate a selective and robust reduction in anxiety-and depression-related behavior in NMDA receptor NR2A subunit KO mice.

depression

depression


Input: Few cases of asymptomatic cholesteryl ester storage disease (CESD) due to low enzymatic activity of human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) have been reported thus far in adults Here, we describe a 51-year-old man with a long clinical history of mixed hyperlipoproteinemia and severe premature atherosclerosis, but with no signs of hepatomegaly, liver dysfunction, or splenomegaly.

lysosomal acid lipase

asymptomatic


Input: This study presents PTP1B as a mechanism-based therapeutic target for RTT, validating a unique strategy for treating the disease by modifying signal transduction pathways with small-molecule drugs.

RTT

RTT


Input: This translocation generated four RUNX1/LPXN and one LPXN/RUNX1 chimeric transcripts.

translocation


Input: The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1.


Input: These results led us to propose that osteoclasts play a part in CFA-induced inflammatory pain through an activation of the acid-sensing receptors including ASICs and TRPV1 by creating acidosis.

acidosis


Input: TLR2 and TLR4 surface expression were assessed on CD14 (+) monocytes, CD4 (+) and CD8 (+) T cells in treatment naïve patients with chronic HCV infection with fibrosis, without fibrosis, co-infected with human immunodeficiency virus (HIV), and in healthy controls.

fibrosis


Input: The protective effect of r-OPN was associated with significantly rescued neuronal cells in the peri-hematoma region as well as a decrease in the Stat1 phosphorylation, iNOS induction, MMP-9 activation, and ZO-1 degradation.

OPN

hematoma


Input: We have recently reported that bcl-2 overexpression and hypoxia synergistically interact to modulate vascular endothelial growth factor (VEGF) and in vivo angiogenesis in tumour cells through VEGF mRNA stabilization and hypoxia-inducible factor 1-mediated transcriptional activity.

VEGF

hypoxia


Input: To determine the adaptive changes in several molecules regulating muscle hypertrophy and atrophy after unloading, we examined whether unilateral lower limb suspension changes the mRNA and protein levels of SRF-linked (RhoA, RhoGDI, STARS and SRF), myostatin-linked (myostatin, Smad2, Smad3 and FLRG) and Foxo-linked (P-Akt, Foxo1, Foxo3a and Atrogin-1) mediators.

STARS

muscle hypertrophy


Input: Genetic variants in TGFB2, TGFBR2, and SMAD3 and their haplotypes were consistently and reproducibly associated with KD susceptibility, coronary artery aneurysm formation, aortic root dilatation, and intravenous immunoglobulin treatment response in different cohorts.

coronary artery aneurysm


Input: MiRP2 forms potassium channels in skeletal muscle with Kv3. 4 and is associated with periodic paralysis.

Kv3. 4

periodic paralysis


Input: Thus, KCNK1 suppresses phenobarbital-induced hyperplasia.

hyperplasia

hyperplasia


Input: The mutation frequency of MT-RNR1 m. 1555A > G in familial probands was significantly higher than in sporadic patients (χ (2) test, P = 0. 000), while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups (χ (2) test, P > 0. 05).

sporadic


Input: We performed full-gene mutational analysis of both PTCH1 and SUFU in three familial medulloblastoma pedigrees and 83 individuals with sporadic non-familial medulloblastoma.

SUFU

sporadic


Input: K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.

K-Ras gene

esophageal


Input: Ileal mucosal thickness, villus height, and crypt depth in GH treatment rats were obviously increased compared with those of ANP rats.

ANP

height


Input: Age-related hearing impairment (ARHI), or presbycusis, is a common condition of the elderly that results in significant communication difficulties in daily life.

ARHI

presbycusis


Input: Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.

TRAIL

malignant peripheral nerve sheath tumor


Input: Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D.


Input: In the ALDH2 deficient genotype, however, we could not evaluate interactions of smoking and alcohol drinking on colorectal polyp development because of the small sample size of heavy alcohol drinkers.

smoking


Input: AST also suppressed the induction of HIF-1α and VEGF under CoCl2-mimicked hypoxia.

VEGF

hypoxia


Input: Three novel mutations of the proto-oncogene KIT cause human piebaldism.

KIT

piebaldism

KIT

piebaldism


Input: The early-onset dysthymics showed a higher number of persons who had never married, who presented a more traumatic and frustrating childhood background, and who had a higher rate of DST non-suppressors and blunted TSH responses after TRH administration during the period of their double depression.

TRH

depression

TRH

depression


Input: Clostridium spiroforme produces the binary actin-ADP-ribosylating toxin CST (C. spiroforme toxin), which has been proposed to be responsible for diarrhea, enterocolitis, and eventually death, especially in rabbits.

ADP

enterocolitis


Input: DNA damage recognition subunits such as DDB2 and XPC protect the human skin from ultraviolet (UV) light-induced genome instability and cancer, as demonstrated by the devastating inherited syndrome xeroderma pigmentosum.

genome instability


Input: To determine susceptibility to kuru and its role in the spread and elimination of the epidemic, we analyzed the PRNP gene coding sequences in 5 kuru patients; no germline mutations were found.

PRNP

kuru

PRNP

kuru


Input: Knockdown of c-Myc inhibited colon cancer cell proliferation largely through downregulating GCN5 transcription, which can be fully rescued by the ectopic GCN5 expression.

colon cancer


Input: On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD.

merosin

fibrosis


Input: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

tumor-necrosis-factor receptor-associated periodic syndrome

tumor-necrosis-factor receptor-associated periodic syndrome


Input: In skeletal muscle, the reduced GLUT4 expression in severe insulin resistance was associated with decreased ubiquitin-conjugating enzyme 9 (UBC9) expression while expression of GLUT1, TBC1D1 and AS160 was not significantly different among type 2 diabetic patients and matched controls.

insulin resistance


Input: Genistein (5-50 muM) significantly inhibited the growth of human umbilical vein endothelial cells (HUVECs) in control media when stimulated by supplemental VEGF or when cultured in hypoxia-exposed PC-3 prostate adenocarcinoma cell conditioned media.

VEGF

hypoxia


Input: In 1993, another neuropathy-known as hereditary neuropathy with liability to pressure palsies (HNPP)-has been shown to be caused by a 17p11. 2--p12 deletion.

hereditary neuropathy with liability to pressure palsies


Input: Both mammographic density and circulating IGF-I levels appear to be partly heritable traits.

IGF-I

mammographic density


Input: In response to artery injury using a carotid artery ligation model, Tsc2 (+/-) mice significantly increased neointima formation compared with the control mice, and the neointima formation was inhibited by treatment with rapamycin.

neointima formation


Input: MicroRNA-30c-2 * expressed in ovarian cancer cells suppresses growth factor-induced cellular proliferation and downregulates the oncogene BCL9.

ovarian cancer

ovarian cancer


Input: Finally, these results provide additional evidence that BCL2-IGH translocation measurements could be a measure of acquired genetic instability in relation to genotoxic exposure in a gene directly relevant in term of lymphomagenesis.

translocation


Input: Thus the formation of malignant neurofibrosarcomas may result from several independent genetic events including mutation of the NF1 gene, whose mechanism of tumorigenesis remains uncertain, and subsequent loss of a " tumor suppressor " gene on 17p, most likely p53.

NF1 gene

tumorigenesis


Input: Sequencing analysis of the entire coding region revealed mutations changing the p53 amino acid composition in all six endometrial carcinoma cell lines tested (Ishikawa, Hecl-A, Hecl-B, KLE, RL95-2, and AN-3).

Hecl

endometrial carcinoma


Input: Because the expression of two well-characterized mucin antigens, MUC1 and MUC2, in colorectal adenocarcinomas (CRCs) has been correlated with the aggressiveness of CRCs, we evaluated the prognostic value of the expression of MUC1 and MUC2 in CRCs collected from African-American and Caucasian patients.

aggressiveness


Input: Following B19 infection, serial specific IgG concentrations remained high after 5 years in only 45% of SS patients, although the rarity of recurrent aplasia suggests lifelong immunity.

aplasia


Input: Short-term (30 min) pretreatment with forskolin (FSK; 10 muM), a direct activator of adenylyl cyclase, in combination with the cyclic nucleotide phosphodiesterase inhibitor isobutylmethylxanthine (IBMX; 200 muM), attenuated CCE in PASMC from normal subjects, patients without pulmonary hypertension (NPH), and patients with IPAH.

cyclic nucleotide phosphodiesterase

pulmonary hypertension


Input: The APE1/Ref-1-141T/G polymorphism was analyzed in a case-control study including 766 glioma patients (among them 241 glioblastoma, 284 astrocytomas except for glioblastoma and 241 other gliomas) and 824 cancer-free controls from eastern China.

astrocytomas


Input: The most important extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD) in terms of debilitating injury and premature death is the development of intracranial aneurysms (IAs) and other vascular complications, resulting in subarachnoid hemorrhage (SAH).

SAH

autosomal dominant polycystic kidney disease


Input: Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.

body mass index


Input: Methylated CpG island amplification coupled with representational difference analysis (MCA-RDA) was performed on 3 couples of endometriosis-associated ovarian carcinoma (EAOC) fresh samples to identify differentially methylated candidate genes related to malignant transformation of ovarian EMS; Methylation-specific PCR (MSP) and immunohistochemistry were performed in 30 EAOC samples to detected the methylation status and protein expression of RASSF2 gene to verify the reliability of MCA-RDA results.

RASSF2 gene

ovarian carcinoma


Input: Many of these silent varieties (beta + thalassemia due to the-101 C--> T mutation; alpha + thalassemia from a deletion or point mutation of an alpha gene; alpha alpha alpha triplication) are quite frequent in the overall group of thalassemias.

alpha gene

thalassemias


Input: We documented inhibition of phosphorylation of p190 by EGFR-TKI treatment in lung adenocarcinoma cell lines.

lung adenocarcinoma


Input: The clinical consequences of SALL4-SOX2 association suggest a possible functional interaction between these factors in regulation of ESCC maintenance and aggressiveness and introduce these regulators of stemness state as potentially interesting therapeutic targets to bring new opportunities for onco-therapeutic modalities.

aggressiveness


Input: Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.

hypoxanthine-guanine phosphoribosyltransferase

Kelley-Seegmiller syndrome

hypoxanthine-guanine phosphoribosyltransferase

Kelley-Seegmiller syndrome


Input: The tumor cells are diffusely reactive for CD34 and characterized by a translocation involving chromosomes 17 and 22 or a supernumerary ring chromosome that results in the fusion of exon 2 of platelet-derived growth factor beta (PDGFβ; 22q13) to various exons of collagen type 1 alpha 1 (COL1A1; 17q22).

translocation


Input: The gene for ataxia-telangiectasia (A-T: MIM: #208900), ATM, spans about 150 kb of genomic DNA and is composed of 62 coding exons.

MIM

telangiectasia


Input: Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Seizures

Seizures


Input: Significant clinical data support the use of formoterol in combination with ICSs for the treatment of asthma, with studies demonstrating improved pulmonary function and symptom scores and decreased need for maintenance ICSs and short-acting beta2-adrenergic agonists (SABAs) as relief medication.

pulmonary function


Input: MyD88 KO mice developed a Th2-dominant whereas wild-type mice developed a Th1/Th17-dominant immune response after chlamydial infection.

chlamydial infection


Input: The aim of the present study was to investigate the role of adrenomedullin (ADM) as a hypoxia-inducible marker of clinically relevant tIssue hypoxia in acute birth asphyxia of term newborn infants.

ADM

hypoxia


Input: These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.

pendrin

Pendred syndrome

pendrin

Pendred syndrome


Input: Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.

depression

depression


Input: Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG.

FRG

FRG


Input: In a sample of British women, body-mass index (BMI), systolic blood pressure, waist-to-hip ratio, serum concentrations of HDL cholesterol and triglycerides, and insulin resistance were all associated with plasma CRP concentration.

CRP

waist-to-hip ratio


Input: Women carrying the AA genotype for rs1995051 (IGFBP1) showed that borderline significantly lower IGF-I levels (P = 0. 06) and significantly lower mammographic density (40. 3% compared to 43. 5% in the GG/GA genotypes; P = 0. 05).

IGF-I

mammographic density


Input: Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4, 701 invasive cases from four data sets.

tumor


Input: We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome).

folate receptor alpha

microtia


Input: The aim of this study was to address the participation of EMT in the metastatic evolution of pheochromocytoma/paraganglioma.

EMT

pheochromocytoma


Input: Our results indicate that patients with the HTR2A haplotype [-1438A,-783A, 102T, 452Tyr] are less likely to develop metabolic abnormalities like C-peptide and insulin elevations during clozapine and olanzapine treatment.

abnormalities


Input: UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.

albuminuria


Input: Unexpectedly, hGLP-2 (3-33) also reduced the colitis damage score by 32. 0 & #177; 8. 4% (P & lt; 0. 05).

colitis

colitis


Input: Tumor growth factor-beta1 mRNA, which is believed to stimulate collagen synthesis, was expressed in both desmoid tumors and HSF to the same extent.

HSF

desmoid tumors


Input: p65 expression in human glioma cells (U251 and] U87) transfected with pFv/nu was significantly decreased.

glioma


Input: The newly developed LAMP assay was confirmed to be a rapid, quantifiable, and highly sensitive and specific system effective in the diagnosis of MPXV infections.

LAMP

infections


Input: These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT.

RUSAT

RUSAT


Input: After SCT, minimal residual disease (MRD) was monitored by polymerase chain reaction (PCR) in seven patients with a BCL-2/IgH translocation and in 13 with a clonal immunoglobulin heavy chain (IgH) rearrangement.

translocation


Input: Secondary outcomes included changes in ulnar compound muscle action potential amplitudes (CMAP), handheld dynamometry, pulmonary function, and Pediatric Quality of Life Inventory scores.

CMAP

pulmonary function


Input: In vivo expression of MUC18/MCAM (CD146) was confirmed on CD3 + T cells infiltrating delayed-type hypersensitivity lesions of the skin, on synovial fluid T cells of rheumatoid arthritis patients, and on distinct T leukemia cells.

hypersensitivity


Input: The PI3-K/AKT pathway might be more relevant than MEK/MAPK for therapeutic targeting in imatinib-resistant GIST patients with secondary mutation.

secondary


Input: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare and potentially fatal autosomal recessive disorder of fatty acid metabolism.

3-hydroxyacyl-CoA dehydrogenase

disorder of fatty acid metabolism


Input: The Cdx-2 GG genotype and baT haplotype are associated with a suppressed Th1 and increased IL-10 response, which suggests that 1, 25 (OH) (2) D (3) probably through the VDR polymorphic variants augments the anti-inflammatory response at the site of M. tuberculosis infection.

tuberculosis infection


Input: Epistasis between IL1A, IL1B, TNF, HTR2A, 5-HTTLPR and TPH2 variations does not impact alcohol dependence disorder features.

alcohol dependence disorder

alcohol dependence disorder


Input: The CCL phenotype is genetically heterogeneous with a second gene on chromosome 22q11. 2, CRYBB2.

CCL

CCL


Input: In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0. 004), TYRP1 rs2733832 (P = 0. 006), MTAP rs1335510 (P = 0. 0005), TYR rs10830253 (P = 0. 003), and MX2 rs45430 (P = 0. 008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0. 06).

nevi


Input: In mice, pulmonary ATP and cytokine concentrations, inflammation and emphysema were analysed in the presence or absence of CD39. Following acute cigarette smoke exposure CD39 was upregulated in BALF cells in smokers with further increases in COPD patients.

inflammation


Input: The encoded polypeptide also shows a 64. 4% identity with RAL-1, an Ag of the river blindness pathogen Onchocerca volvulus.

RAL

river blindness


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

5-HT (1B) R

depression

5-HT (1B) R

depression


Input: Twenty-one paraffin-embedded clear cell adenocarcinomas were immunohistochemically stained for bcl-2 (antibody M 887, Dako, Carpinteria, CA) and DNA fragmentation (ApopTag, Oncor, Gaithersburg, MD), a marker for apoptosis.

clear cell adenocarcinomas

clear cell adenocarcinomas


Input: A multistage protozoan parasitic disease was used as a cachexia model to study the effects of daily administration of bovine growth hormone (GH) on endocrine and body composition changes of young calves from the onset of the acute phase response (APR).

APR

parasitic disease


Input: Previous reports using this technique showed a substantial reduction in the HCR of sunlamp-exposed Ad 2 for infection of excision repair deficient fibroblasts from patients with xeroderma pigmentosum.

HCR

xeroderma pigmentosum


Input: The phosphorylation state of 31 protein kinases/signaling proteins and superoxide anion (O (2) (-)) production in the contralateral and ipsilateral cortex was measured after permanent middle cerebral artery occlusion (pMCAO) in ovariectomized rats treated with placebo or TMX.

TMX

middle cerebral artery occlusion


Input: The expression of immune response and' inflammatory disease' genes (down-regulated: TNFalpha, IL6, S100A8, FGF7, PTGS2; up-regulated: PPARalpha, MGLL, MYLK, PPSS23, ABCB4 with EPA and/or AA) was affected in IL10 (-/-) mice fed EPA-and AA-enriched diets, compared to those fed AIN-76A diet.

inflammatory disease


Input: Endogenous FPR agonist activity released by necrotic tumor cells was assessed by measuring FPR activation in an FPR-transfected basophil leukemia cell line and live U-87 cells.

FPR

necrotic tumor


Input: The overexpression of interleukin-8 (IL-8) in metastatic breast cancer cells prompted additional investigation of the role of IL-8 in osteolysis.

osteolysis


Input: In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.

hypoxia

hypoxia


Input: Loss of E-cadherin was associated with cell grade, macroscopic type, perineural invasion, and tumor budding, β-catenin with microsatellite instability and tumor site, and S100A4 with growth type, macroscopic type, AJCC stage, lymphovascular invasion, and perineural invasion.

E-cadherin

microsatellite instability


Input: The results suggest that analysis of STR variation in a relatively small number of MSI-H cancers may aid in pre-evaluation of their allelic distribution in a population.

STR

cancers


Input: In tissue biopsies, significant fold changes were observed for ADAM12, POSTN, and TNC in the cord and/or nodule when compared with that of normal fascia.

POSTN

nodule


Input: In contrast, one case of nasal lymphoma with CD2 + CD3 (Leu4) + CD8 + CD19-CD56 + phenotype expressed full-length Talpha, Tbeta, and Tgamma transcripts rearranged TCR beta, gamma, and deleted TCR delta genes, indicating T-lineage, These results support the view that nasal lymphomas can separated into NK-cell and T-cell neoplasms, based on differences genotypic characteristics.

TCR delta genes

lymphomas


Input: We tested the hypothesis that DCX inhibits glioma U87 cell mitosis and invasion.

glioma


Input: Male and sham ovariectomized female rats were subjected to sham colon ascendens stent peritonitis (CASP), and they were compared to male and ovariectomized female rats underwent CASP and either estradiol receptor α (ER-α) agonist propyl pyrazole triol (PPT), estradiol receptor ß (ER-ß) agonist diarylpropiolnitrile (DPN), or vehicle treatment.

PPT

peritonitis


Input: The near absence of OB-Rb mRNA and the similarly decreased SOCS3 expression in obese adipose tissue may reflect a defective leptin signaling pathway that could play a role in the impairment of insulin sensitivity associated with excess adiposity.

insulin sensitivity


Input: Histone methyltransferase EZH2 induces Akt-dependent genomic instability and BRCA1 inhibition in breast cancer.

genomic instability


Input: In the present study, we have analyzed polyamine concentrations and ODC activity in samples from benign breast diseases (n = 36), benign breast tissue adjacent to the primary carcinoma (n = 19), and breast carcinoma (n = 104).

ODC

primary carcinoma


Input: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

congenital central hypoventilation syndrome

congenital central hypoventilation syndrome


Input: To determine the association between the expression of p63 gene isoforms (TA and DeltaN) and salivary gland tumorigenesis, we performed reverse transcription-polymerase chain reaction analysis of these markers in 71 benign and malignant salivary gland neoplasms.

tumorigenesis


Input: The rat C6 and 9L glioma and the human U87 glioma cell lines implanted either s. c. or intracranially in Swiss nude mice responded to angiostatin in a dose-dependent fashion with growth inhibition to 11% of controls (P < 0. 01), without detectable signs of toxicity.

glioma


Input: In contrast, involuted hemangioma specimens revealed significantly lower numbers of cells staining positive for basic fibroblast growth factor and vascular endothelial growth factor messenger RNA (44 +/-11 and 431 +/-76 cells/mm2, respectively; p < 0. 05).

hemangioma


Input: Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

lamin A/C gene

mild


Input: To evaluate the potential influence of Foxp3 polymorphism on preeclampsia (PE) susceptibility, we conducted a case-control study in Han Chinese women.

preeclampsia


Input: Histological abnormalities were more than 2-fold higher in the APCR group compared to the APCN group.

APCN

abnormalities


Input: By means of the reporter gene transfection assay, hypoxia-inducible transcriptions that were mediated by [HRE] AF promoter were detected in low-and non-AFP-producing human hepatoma cells, but not in nonhepatoma cells.

AFP

hypoxia


Input: Moreover, XLN-WASP expression in lymphocytes results in modestly increased apoptosis associated with increased genomic instability.

WASP

genomic instability


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

sonic hedgehog

tumorigenesis


Input: Three-dimensional dynamic migration imaging system and real time RT-PCR were used to quantitatively investigate the effect of macrophages on the cancer cell mobility and gene expression related to cancer invasion and metastasis, including ADAM8, ADAM9, MMP9, TIMP3, VEGF-A and IL8 genes, in AGS, HGC-27, Hs-746T and NCI-N87 gastric cancer cell lines under normal or hypoxic conditions.

VEGF-A

hypoxic


Input: In the experiments reported here, we evaluated if: a) PARP activation is present in the retina in short-term diabetes; and b) PARP inhibitors, 3-aminobenzamide and 1, 5-isoquinolinediol, counteract diabetes-and hypoxia-induced retinal VEGF formation.

VEGF

hypoxia


Input: To elucidate the consequences of this translocation, we cloned bcl-2 cDNAs from a pre-B cell line (Nall-1) and a t (14; 18) lymphoma cell line (SU-DHL-6) and compared these sequences with their genomic counterparts.

translocation


Input: In HeLa cells, mutant TIA1 constructs caused a mild increase in stress granule abundance compared to wild type, and showed slower average fluorescence recovery in FRAP.

mild


Input: We evaluated methylation at p16, p14, and human Mut L homologue (hMLH1) by methylation-specific PCR (MSP), and at cyclooxygenase 2 (COX2), O (6)-methyl-guanine methyltransferase (MGMT), estrogen receptor (ER), retinoic acid receptor beta 2 (RAR beta), and T-type calcium channel (CACNA1G) genes, and methylated in tumor 1 (MINT1), MINT2, MINT25, MINT27, and MINT31 loci by combined bisulfite restriction analysis (COBRA); mutation of K-ras, p53, p16, and p14 genes by sequencing; loss of heterozygosity of chromosome 9p; and microsatellite instability (MSI).

microsatellite instability


Input: These findings suggest that BET inhibitors exert therapeutic effects in leukemia by evicting BRD4-NSD3-CHD8 complexes from chromatin to suppress transcription.

leukemia


Input: These results suggest that PHA-blasts may preferentially support the replication of the CXCR4-tropic and dual tropic HIV-1s, and that CXCR4-tropic and dual tropic HIV-1s are also present in peripheral blood from patients in the late stage of the asymptomatic phase.

asymptomatic


Input: In a lung metastasis model, LPH (CD47) efficiently inhibited lung metastasis to about 27% of the untreated control.

LPH

lung metastasis


Input: A large volume of data was presented relating to the relative expression of bcl-2 breakpoints by either genomic hybridization or hybridization following DNA amplification, the expression of the bcl-2 protein or the defined cytogenetic presence of the translocation.

translocation


Input: This finding suggests that FTO is involved in the mechanism underlying the association between mood disorders and obesity.

FTO

mood disorders

FTO

mood disorders


Input: Interestingly, we found that Set7 expression significantly correlated with oxidative marker 8-isoprostaglandin F2α (r = 0. 38; P = 0. 01) and flow-mediated dilation (r =-0. 34; P = 0. 04).

dilation


Input: These findings implicate HIF-1 in the activation of VEGF transcription in hypoxic cells.

VEGF

hypoxic


Input: In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE.

sporadic


Input: Overexpression of miR-22 induced apoptosis and inflammation in HUVECs.

inflammation

inflammation


Input: We assessed cells obtained by BAL in subjects with mild atopic asthma and in normal control subjects for the expression of messenger RNA (mRNA) for interleukin-2, 3, 4, and 5, granulocyte-macrophage colony-stimulating factor (GM-CSF), and interferon gamma by in situ hybridization with 32P-labeled complementary RNA.

interferon gamma

mild


Input: Our results demonstrate altered expressions of the PDE4A and PDE4B proteins in the brains of subjects with autism and might provide new therapeutic avenues for the treatment of this debilitating disorder.

autism

autism


Input: Collectively, ADM is a new target of oncogenic KRAS in the setting of hypoxia.

ADM

hypoxia


Input: Low molecular weight protein tyrosine phosphatase (LMW-PTP) is a polymorphic protein with two major isoforms whose role in tumorigenesis is currently controversial.

LMW-PTP

tumorigenesis


Input: Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

PNLIP

pancreatic lipase deficiency

PNLIP

pancreatic lipase deficiency


Input: Furthermore, the adenovirus driven expression of MITF is sufficient to increase MET in melanoma cells.

MITF

adenovirus


Input: RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma.

papillary thyroid carcinoma

papillary thyroid carcinoma


Input: The aim of this study was to examine the association between haplotypes of CRP, IL6 and FGB genes, systemic inflammation, COPD risk and COPD-related phenotypes (respiratory impairment, exercise capacity and body composition).

respiratory impairment


Input: Neither the DST nor TRH test was found to distinguish significantly among the four familial subgroups of depression.

TRH

depression

TRH

depression


Input: These findings show that testing for BAGE, GAGE-1/2, MAGE-1, and MAGE-3 transcriptional activity in ascites specimens results in high sensitivity in diagnosing malignant ascites.

ascites


Input: P48 overexpression in GBM cells facilitated tumorigenesis and enhanced tumor growth in mouse xenograft models.

tumorigenesis


Input: Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency.

pituitary hormone deficiency


Input: Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.

dysautonomia

dysautonomia


Input: By demonstrating a role for the endogenous cannabinoid system in regulating seizure activity, these studies define a role for the endogenous cannabinoid system in modulating neuroexcitation and suggest that plasticity of the CB1 receptor occurs with epilepsy.

seizure

seizure


Input: Taken together, this study provides new evidence on promotive effects of the HE4 on gastric cancer progression and indicates that HE4 might be a promising prognostic factor for gastric cancer diagnosis.

gastric cancer


Input: A novel deletion covering exon 30 and portions of flanking introns of the CACNA1F gene was identified in patients with AIED.

AIED

AIED


Input: Vascular endothelial growth factor (VEGF) is a hypoxia-inducible angiogenic factor, which is known to be upregulated in most cases of glioblastoma multiforme (GBM).

VEGF

hypoxia


Input: The aim of this study was to investigate the effect of SST on the activity of IMMC in MODS.

SST

MODS

SST

MODS


Input: We have used established image averaging methods to identify and study the axial distribution of MyBP-C on the thick filament by averaging profile plots of the A-band of the sarcomere from electron micrographs of human cardiac and skeletal myopathy specimens.

MyBP-C

skeletal myopathy


Input: Synthesis and secretion of insulin-like growth factor II by a leiomyosarcoma with associated hypoglycemia.

insulin-like growth factor II

hypoglycemia

insulin-like growth factor II

hypoglycemia


Input: This indicates that LKB1 gene may relate to the tumorigenesis of breast cancer.

tumorigenesis


Input: The treatment of PCa cells with CDF, a novel Curcumin-derived synthetic analogue previously showed anti-tumor activity in vivo, inhibited the productions of VEGF and IL-6, and down-regulated the expression of Nanog, Oct4, EZH2 mRNAs, as well as miR-21 under hypoxic condition.

VEGF

hypoxic


Input: Mice deficient in the inflammasome components ASC, caspase-1, NLRC4, and NLRP3, were dramatically more susceptible to lung infection with B. pseudomallei than WT mice.

lung infection


Input: To characterize such cells before clinical applications, we studied a human glioma cell line (D54 MG) and early passage human glioma (Ed147. BT, Ed149. BT) and melanoma (Ed141. MEL) cultures after immunostimulatory gene transfer.

melanoma


Input: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Methylation of 06-methylguanine-DNA methyltransferase was identified in A172, U251, and BT325 glioma cell lines, but not in the U87 cell line.

glioma


Input: No statistically significant differences in the genotype and allele frequency of IL4 and IL10 gene polymorphisms between symptomatic and asymptomatic patients were observed.

IL10 gene

asymptomatic


Input: Interaction of the cholesteryl ester transfer protein I405V polymorphism with alcohol consumption in smoking and non-smoking healthy men, and the effect on plasma HDL cholesterol and apoAI concentration.

cholesteryl ester transfer protein

alcohol consumption


Input: The kainate-induced elevation in this ADAMTS-cleaved fragment was localized to amygdaloid and thalamic nuclei, hippocampus, caudate-putamen, cingulate cortex, and the outer molecular layer of the dentate gyrus where it was accompanied by a robust elevation in ADAMTS1 and 4 mRNA and a 28% decline in synaptic density 5 days after kainate. Thus, complexes of extracellular matrix proteins that exist in perineuronal nets and in the neuropil are cleaved by specific matrix-degrading proteases at early time points during excitotoxic neurodegeneration.

neurodegeneration


Input: We have evaluated the microcirculation in vivo through nailfold videocapillaroscopy, before and after acute nasal estradiol administration at baseline and after increased sheer stress (postocclusive reactive hyperemia response) in 100 postmenopausal women, being 70 controls (healthy) and 30 simultaneously hypertensive and diabetic (HD), correlating their responses to PvuII and XbaI ESR1 polymorphisms and to VNTR, T-786C and G894T NOS3 variants.

reactive hyperemia


Input: In women, compared to the most common allele, the GpIIIa Pl allele was associated with increased mean arterial pressure (MAP) (P < 0. 05) and pulse pressure (PP) (P < 0. 001), and the LPL 447Ter allele was associated with decreased systolic blood pressure (SBP) and PP levels (0. 001 < or = P < or = 0. 05).

GpIIIa

systolic blood pressure


Input: Lung pathological analysis revealed that TNF/LT deficiency reduced CAP exposure-induced pulmonary inflammation.

TNF

pulmonary inflammation

TNF

pulmonary inflammation


Input: These results indicate that a membrane-bound Vpu is not required for the CD4 (+) T cell loss and neurological disease in SHIV-inoculated pig-tailed macaques.

neurological disease


Input: A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

juvenile amyotrophic lateral sclerosis

juvenile amyotrophic lateral sclerosis


Input: Lower methylation levels of POMC CpG sites + 136bp and + 138bp were associated with success in weight-loss maintenance (odds ratio = 0. 042 [95% CI 0. 01-0. 57]; p = 0. 018), whereas lower total methylation levels in NPY promoter were associated with higher risk of weight regain (odds ratio = 14. 0 [95% CI 1. 13-172]; p = 0. 039).

NPY

weight


Input: Mesenchymal stem cells (MSCs) transfected by integrin-linked kinase (ILK) transplantation may improve the function and compliance of the post-infarct cardiac ventricle.

ILK

infarct


Input: Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population.

alpha gene

knee osteoarthritis


Input: Haem oxygenase-1 (HO-1) acts in cytoprotection against oxidants, provides anti-inflammatory effects, and inhibits atherogenesis.

atherogenesis


Input: Common SNPs in ADIPOR2 are associated with LFT in T2DM subjects, which suggests a possible role of this receptor in liver dysfunction associated with insulin resistance.

liver dysfunction


Input: Leptin primarily regulates food intake and body weight via leptin receptor b (LepRb).

leptin receptor

body weight


Input: We found that Hdac6-deficient mice exhibit hyperactivity, less anxiety, and antidepressant-like behavior in behavioral tests.

anxiety


Input: We analyzed the immunohistochemical expression of IMP3 in five normal pituitary tissues and 75 pituitary tumors (64 adenomas and 11 carcinomas) to determine if specific tumor types expressed IMP3 and if there were differences in IMP3 expression between adenomas and carcinomas.

pituitary tumors


Input: After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations.

WD

WD


Input: Post-stroke depression (PSD) is a mental illness characterized by subjective feelings of depression, cognitive dysfunction, and decreased interest.

PSD

cognitive dysfunction


Input: Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82).

FFEVF

FFEVF


Input: In Patient 1 (a boy, age 1. 9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS).

MRI

height


Input: Little is known about GDF-15 as a biomarker in patients with heart failure.

heart failure

heart failure


Input: We scanned the GYS1 gene for mutation by single strand conformational polymorphism in 244 non-obese Japanese NIDDM patients and 181 non-diabetic control subjects, and found two missense mutations; Met to Val at position 416 in the exon 10 (M416V) and Pro to Ala at position 442 in the exon 11 (P442A).

obese


Input: Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss


Input: Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.

mild


Input: This study was undertaken (1) to investigate the gene and protein expression of cyclooxygenase-2 (COX-2), peroxisome proliferator-activated receptor-gamma (PPARgamma), interleukin-8 (IL-8), hepatocyte growth factor (HGF), gastrin, and its receptor (CCK-2) in the Barrett' s epithelium; (2) to analyze the activity of NFkappaB in Barrett' s esophagus with low-grade dysplasia; and (3) to assess the effects of PPARgamma ligand (ciglitazone) and gastrin on cell proliferation in the cell line derived from esophageal adenocarcinoma (OE-33).

Barrett' s epithelium

Barrett' s epithelium


Input: We find that pregnant females lacking Becn1 in the ovarian granulosa cell population have a defect in progesterone production and a subsequent preterm labor phenotype.

preterm labor


Input: The homozygous variant was highly associated with early-onset MMD (age at onset < 5 years), cerebral infarction at diagnosis, and cognitive impairment in long-term outcome.

MMD

cerebral infarction


Input: Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).

PCNA

hyperplasia


Input: Here, we show that prominent mitochondrial proliferation occurs in Cramping mice, a model of hereditary neuropathy caused by a mutation in the dynein heavy chain gene Dync1h1.

heavy chain

neuropathy


Input: We show here that a variant t (2; 18) (p11; q21) translocation observed in a case of follicular lymphoma leads to the juxtaposition of a J kappa segment to a chromosome 18 transcriptional unit located 10 kpb upstream of the BCL-2 locus.

translocation


Input: The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.

MEFV

FMF

MEFV

FMF


Input: The molecular mechanism resulting in the duplication or deletion of a 1. 5 Mb region of 17p11. 2-p12, associated, respectively, with Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), has been proposed to be an unequal crossing-over during meiosis between the two chromosome 17 homologues generated by misalignment of the proximal and distal CMT1A-REP repeats, two homologous sequences flanking the 1. 5 Mb CMT1A/HNPP monomer unit.

hereditary neuropathy with liability to pressure palsies


Input: Mutations in the ATP13A2 lead to Kufor Rakeb disease, a form of autosomal recessive juvenile parkinsonism that also features oromandibular dystonia.

oromandibular dystonia


Input: The prolyl isomerase Pin1 interacts with and downregulates the activity of AMPK leading to induction of tumorigenicity of hepatocarcinoma cells.

hepatocarcinoma


Input: In a prion model of chronic neurodegeneration and inflammation, CX3CL1 immunoreactivity is upregulated in astrocytes and CX3CR1 expression is elevated on microglia.

neurodegeneration


Input: Polymorphisms in other genes were found to be associated only with seminoma (IL2) or nonseminoma (IFNGR2 and IL10).

seminoma


Input: This suggests that because of the translocation, the normal function of the AF9Q34 gene is aborted.

translocation


Input: In the present study, we demonstrated that the mRNA level of chemerin receptor is higher in a granulosa cell tumor cell line than in epithelial cancer cells, whereas chemerin expression and secretion were lower.

chemerin receptor

granulosa cell tumor

chemerin receptor

granulosa cell tumor


Input: Glutathione S-transferase M1 polymorphism and sporadic colorectal cancer risk: An updating meta-analysis and HuGE review of 36 case-control studies.

Glutathione S-transferase M1

sporadic


Input: Moreover, HMGB3 expression was upregulated in bladder cancer tissues and showed inverse correlation with miR-532-5p expression.

bladder cancer

bladder cancer


Input: SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Legius syndrome

Legius syndrome


Input: We also found that mutations in the hMSH3 gene were significantly associated with decreased wall invasiveness and aneuploidy, and frameshifts in the BLM gene were significantly associated with the mucinous histotype.

BLM gene

aneuploidy


Input: We thus propose that MUTYH suppresses tumorigenesis under conditions of oxidative stress by inducing cell death and by suppressing mutagenesis.

MUTYH

tumorigenesis


Input: We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.

AKT

chronic hepatitis


Input: In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia.

GDNF

congenital intestinal atresia


Input: Gastric PDX-1 expression in pancreatic metaplasia and endocrine cell hyperplasia in atrophic corpus gastritis.

atrophic


Input: We conclude that ENTPD1 is a vascular protective factor in diabetic nephropathy that modulates glomerular inflammation and thromboregulation.

inflammation


Input: This recessive ataxia is associated with an elevation in alpha-fetoprotein as in ataxia-telangiectasia.

alpha-fetoprotein

telangiectasia


Input: Three individuals with loss-of-function mutations of peroxisome proliferator-activated receptor gamma developed early hypertension.

peroxisome proliferator-activated receptor gamma

hypertension

peroxisome proliferator-activated receptor gamma

hypertension


Input: Age, GGT levels, viral load, steatosis, fibrosis and HOMA-IR were significantly associated with RVR in univariate analysis.

GGT

viral load


Input: The SEMA5A regulatory network includes previous autism candidate genes and regions, including MACROD2, A2BP1, MCPH1, MAST4, CDH8, CADM1, FOXP1, AUTS2, MBD5, 7q21, 20p, USH2A, KIRREL3, DBF4B and RELN, among others.

autism


Input: Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP.

protoporphyrinogen oxidase

VP

protoporphyrinogen oxidase

VP


Input: H & E and Masson staining were used to evaluate inflammatory infiltration and myocardial fibrosis, and immunohistochemistry was used to measure the levels of IL-1, IL-6 and IL-17.

myocardial fibrosis


Input: We undertook the current study to determine if the decreased renal disease in MRL/lpr Bf-/-mice was due to the lack of AP activation or the H-2b haplotype by studying the effects of factor D (Df) deficiency, a critical protein for AP activation, on disease development in MRL/lpr mice.

factor D

renal disease


Input: Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.

agammaglobulinemia

agammaglobulinemia


Input: Quantitative real-time PCR and a Western blot were performed to determine the regulation of miRNA and GDNF in patients with congenital intestinal atresia.

GDNF

congenital intestinal atresia


Input: Cycling hypoxia increases U87 glioma cell radioresistance via ROS induced higher and long-term HIF-1 signal transduction activity.

glioma


Input: Here we provide multiple lines of evidence establishing PHF8 as the first mono-methyl histone H4 lysine 20 (H4K20me1) demethylase, with additional activities towards histone H3K9me1 and me2.

mono


Input: Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.

JMML

JMML


Input: Analysis of the clinical features on the control subjects demonstrated no correlations between these TLR4 polymorphisms and sex, age, body mass index, etc.

body mass index


Input: VEGF transcription can be induced by hypoxia through activation of the PI3 kinase pathway and hypoxia-inducible factor alpha.

VEGF

hypoxia


Input: In recurrent disease, the absence of microsatellite instability (the standard marker for MMR deficiency) suggests a lack of involvement of MMR in the resistant phenotype of recurrent disease.

MMR

microsatellite instability


Input: When cell lines and clinical samples were studied together, we found that each chromosomal abnormality (TEL/AML1, BCR/ABL, or MLL abnormalities) was associated with a characteristic gene expression signature that was shared by both cell lines and clinical samples.

TEL

chromosomal abnormality


Input: At d 28 of protein malnutrition, plasma total lipolytic activities were significantly reduced in both depleted groups, (P < 0. 05); hepatic lipase values represented 23% of the control value and lipoprotein lipase activity was about 11% of the control value.

hepatic lipase

protein malnutrition


Input: In the present study, we examined whether CITED2 is also involved in the resistance of cancer cells to the chemotherapeutic drug cisplatin.

cancer

cancer


Input: EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.

EMSY

chromosomal instability


Input: To assess and compare immunohistochemical expression of epidermal growth factor receptor (EGFR) with gene amplification as demonstrated by chromogenic in situ hybridisation (CISH), in colorectal adenocarcinoma.

CISH

colorectal adenocarcinoma


Input: Both nuclear and cytoplasmic beta-catenin expressions were demonstrated in 4 of the 27 ovarian carcinomas for which tissue samples were available for examination.

beta-catenin

ovarian carcinomas

beta-catenin

ovarian carcinomas


Input: To normalize the levels of this protein, PhGPx was overexpressed in MIA PaCa-2 and AsPC-1 human pancreatic cancer cells by infection with an adenovirus-PhGPx L-form construct (AdPhGPx-L-form) (0-200 MOI) or with an adenovirus-PhGPx S-form construct (AdPhGPx-S-form) (0-200 MOI), and cell growth, plating efficiency, and growth in soft agar were determined.

PhGPx

adenovirus


Input: RUNX2 inhibited the androgen response partly by promoting the dissociation of AR from its target genes such as the tumor suppressor NKX3-1.

dissociation


Input: Logistic regression analysis with multiple clinical variables indicated that the presence of A allele at the MRP2 c. 1249G & gt; A locus was an independent determinant of central nervous system ADR caused by carbamazepine.

ADR

ADR


Input: These results suggest that, irrespective of body weight, visceral obesity is an independent predictor of serum RBP4 levels, and.

body weight


Input: Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.

Apolipoprotein E

retinal degeneration


Input: Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16. 3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator.

cyclin D3

translocation


Input: Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations.

optic-nerve

optic-nerve


Input: These findings suggest the existence of multiple mechanisms regulating the hypoxic induction of VEGF in colon cancer.

VEGF

hypoxic


Input: Thirty days after MSC implantation, changes at the infarct area, level of collagen deposition, and cardiac hypertrophy were assessed.

MSC

infarct


Input: Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.

SRRT

major depression

SRRT

major depression


Input: These results indicate that PTI-1 may be a member of a class of oncogenes that could affect protein translation and contribute to carcinoma development in human prostate and other tissues.

PTI

carcinoma


Input: Our findings indicate that a single normal TSH receptor allele is sufficient for normal thyroid function, but that the compound abnormality in the proband leads to TSH resistance.

TSH receptor

TSH resistance

TSH receptor

TSH resistance


Input: Analyses also indicated associations of BDNF genotype with parent-rated ADHD (p = 0. 01, etap (2) = 0. 10) and teacher-rated tics (p = 0. 04; etap (2) = 0. 07).

BDNF

tics


Input: In this study, U87 glioma cells formed pseudopodia in vitro as cells pushed through 3 microm pores of polycarbonate membranes.

glioma


Input: These mAbs will be useful for studying Dsg1 function and mechanisms of blister formation in PF and for developing targeted therapies and tools to monitor disease activity.

blister


Input: MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.

Annexin V

necrotic


Input: This association was consistent across strata of sex, age, smoking, and ALDH2 genotypes.

smoking


Input: We performed a case-control association study between the codon 135 polymorphism in the complement component C1r gene and sporadic AD.

C1r gene

sporadic


Input: We also found loss of heterozygosity in the lung cancer, suggesting that TSSC5 may be a conventional tumor suppressor gene in the adult human lung and an imprinted tumor suppressor gene in the fetal kidney.

lung cancer

lung cancer


Input: The aim of this study is to investigate the association of IL-18 (-137G/C and-607C/A) gene promoter single nucleotide polymorphisms (SNPs) with susceptibility to tuberculosis (TB), and the effects of those SNPs to its protein producing capacity in Chinese Han population.

susceptibility to tuberculosis


Input: The combination of GSTM1-null/NAT2 rapid acetylator phenotype/smoking behavior or GSTM1-null/NAT2 rapid acetylator phenotype/diet rich in fried red meat was not found to influence the sporadic CRC risk in Romanians, but the GSTM1-null genotype, NAT2 rapid acetylator phenotype influenced the sporadic CRC risk differently depending on the gender of the patient.

sporadic


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Microarray analysis of MRI-defined tissue samples in glioblastoma reveals differences in regional expression of therapeutic targets.

MRI

glioblastoma


Input: Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t (3; 8) (p14. 2; q24. 1).

familial renal cell carcinoma


Input: Analysis of 19 of the inversion-negative families and a further nine families with mild or moderate haemophilia A by CMA resulted in the identification of a heterogeneous spectrum of mutations in the FVIII gene comprising 21 single base-pair substitutions and nine deletions.

FVIII

haemophilia A

FVIII

haemophilia A


Input: Envoplakin (EVPL) is a member of the desmosomal plaque proteins attached to desmosomal cadherin and keratin filaments.

EVPL

plaque


Input: The expression of SNCG, MAP2, SDF-1 and CXCR4 mRNA was also detected by RT-PCR method in 50 cases of gastric adenocarcinoma and 30 cases of nonneoplastic adjacent gastric tissue.

SNCG

gastric adenocarcinoma


Input: Compared with individuals who had both GSTM1 and GSTT1 genes, a higher frequency of at least one deletion of the GSTM1 and GSTT1 genes was identified in anxious smokers [odds ratio (OR) = 2. 21, 95% confidence interval (CI) = 1. 05-4. 65, P = 0. 034], but there was no association with bipolar and unipolar depression (P = 0. 943).

unipolar depression


Input: Our LIPC association was strongest for a functional promoter variant, rs10468017, (P = 1. 34e-08), that influences LIPC expression and serum HDL levels with a protective effect of the minor T allele (HDL increasing) for advanced wet and dry AMD.

LIPC

dry


Input: It is characterized by severe circulating monocytopenia, NK-and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia.

MAC

infections


Input: In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced " premature asthma. "

HPA

asthma


Input: Infantile and juvenile forms of Alexander disease are well characterized and are caused by de novo mutations in the glial fibrillary acid protein (GFAP) gene.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Knockout of MTA1 in mice disrupts the free-running period of circadian rhythms under constant light and normal entrainment of behaviour to 12-h-light/12-h-dark cycles.

circadian rhythms


Input: No association of a 7/9 signal sequence and the heterogeneity of the breakpoints within the bcl-2 and IgL loci suggest that the translocations occurring at the 5'-flanking region of the bcl-2 gene might be mediated by a different mechanism from that of the t (14; 18) translocation.

bcl-2 gene

translocation


Input: We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families.

FA

FA


Input: Ras homolog gene family, member A (RhoA), a Rho guanosine triphosphatase (GTPase) family member, may be involved in a hypoxia-induced vascular endothelial growth factor (VEGF) pathway that regulates TNV angiogenesis through an unclear mechanism.

VEGF

hypoxia


Input: First, mutation of Cart1 exacerbates Alx4-dependent polydactyly in a manner that is dependent on gene dosage.

polydactyly

polydactyly


Input: Sections of four tumors, and corresponding adjacent areas, from patients with achalasia due to Chagas' disease were examined by immunohistochemistry for p53 and PCNA proteins.

PCNA

achalasia


Input: The alterations in apelin and APJ receptor concentrations with ischemic cardiomyopathy are poorly understood.

apelin

ischemic cardiomyopathy


Input: In this study we test the hypothesis that failure to generate collateral vessels is associated with a failure to appropriately induce with hypoxia or ischemia the angiogenic factor, vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Epithelial to mesenchymal transition (EMT) is a secondary phenomenon concomitantly associated with the tumor progression.

EMT

tumor progression


Input: One TLS patient died of intracerebral hemorrhage on day 10 and another patient of multiorgan failure on day 17.

TLS

intracerebral hemorrhage


Input: In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome.

CHARGE syndrome

CHARGE syndrome


Input: The variants in HAGH, rs11859266 and rs3743852, showed significant associations with schizophrenia in males at allelic and genotype levels, which remained persistent after multiple testing with the exception of rs3743852 for the genotype model.

HAGH

schizophrenia

HAGH

schizophrenia


Input: In support of the likelihood that these effects explained FKBPL-mediated cell growth inhibition and sensitivity to endocrine therapies, FKBPL expression was correlated with increased overall survival and distant metastasis-free survival in breast cancer patients.

FKBPL

breast cancer

FKBPL

breast cancer


Input: After intracerebroventricular injection of these GLP-1 MSC capsules in presymptomatic SOD1 (G93A) mice, we assessed possible protective effects by survival analysis, measurement of body weight, daily monitoring and evaluation of motor performance by rotarod and footprint analyses.

body weight


Input: Here, we show that in anaplastic astrocytoma biopsy samples, FAK is expressed as an unspliced variant and migrates with a faster mobility similar to that observed in embryonic brain.

FAK

anaplastic astrocytoma


Input: We conclude that AAV-mediated prolonged maspin expression efficiently suppresses human prostate tumor growth in vivo by apoptosis induction and inhibition of angiogenesis.

AAV

prostate tumor


Input: Moreover, GDNF increased hypoxia responsive element (HRE)-containing VEGF promoter transcriptional activity but not that of the HRE-deletion VEGF promoter construct.

VEGF

hypoxia


Input: The high-level expression and stability of cochlin in the inner ear, even in the absence and severe atrophy of the fibrocytes that normally express COCH, are shown through these studies and further elucidate the pathobiologic events occurring in DFNA9 leading to hearing loss and vestibular dysfunction.

COCH

atrophy


Input: A new keratin 2e mutation in ichthyosis bullosa of Siemens.

keratin 2e

ichthyosis bullosa of Siemens

keratin 2e

ichthyosis bullosa of Siemens


Input: The mean corpuscular volume (MCV) values for males and females were 63. 7 ± 3. 7 and 63. 2 ± 3. 2 fL, respectively, while these values were 19. 3 ± 1. 6 and 19. 3 ± 1. 4 pg for mean corpuscular hemoglobin (Hb) (MCH).

MCH

mean corpuscular volume


Input: Twenty-five LGI1 mutations have been described in familial and sporadic lateral temporal epilepsy patients.

sporadic


Input: We conclude that hypoxia triggers a physiologically relevant increase in VEGF-A by prostate cancer and bone marrow stromal cells which involves a paracrine loop that recruits and activates BME to support tumor neovascularization-related processes.

VEGF-A

hypoxia


Input: T ([20]) repeat in the 3'-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer.

MT1X gene

microsatellite instability


Input: PALB2 mutations in European familial pancreatic cancer families.

familial pancreatic cancer

familial pancreatic cancer


Input: Our previous study suggested that the tumour necrosis factor-alpha gene with thymine residue at position-857 in its promoter region [TNF-alpha (-857T)] could be associated with human narcolepsy independently of a strong association of the human leucocyte antigen (HLA)-DRB1 * 1501 with the disorder.

alpha gene

narcolepsy


Input: Tissue microarrays with specimens from 322 women with primary ovarian carcinoma were stained with antibodies to hMLH1 and hMSH2; cases in which either hMLH1 or hMSH2 were negative were analyzed for microsatellite instability with the five-marker panel recommended by the National Cancer Institute (BAT26, BAT25, D5S346, D2S123, and D17S250).

ovarian carcinoma


Input: High DNA methyltransferase 3B expression mediates 5-aza-deoxycytidine hypersensitivity in testicular germ cell tumors.

DNA methyltransferase 3B

hypersensitivity


Input: A novel CSF1-S100A10 fusion gene was found in a TSGCT that carried the translocation t (1; 1) (q21; p11) as the sole karyotypic abnormality.

translocation


Input: Macrophage-derived Angptl2 contributes to AAA development by inducing inflammation and degradation of extracellular matrix in the vessel wall, suggesting that targeting the Angptl2-induced inflammatory axis in macrophages could represent a new strategy for AAA therapy.

inflammation


Input: Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Diamond-Blackfan anemia

Diamond-Blackfan anemia


Input: Collectively, these results show that LPA under hypoxic condition enhances cell migration through the sequential induction of HIF-1alpha and VEGF, and that this enhancement is efficiently blocked by resveratrol.

VEGF

hypoxic


Input: VEGF or HIF-1alpha was antagonized in human retinal pigment epithelial (RPE) cells using RNAi, and then cells were cultured under hypoxia.

RPE

hypoxia


Input: Multiple lymphomatous polyposis (MLP) is characterized by multiple polyps involving long segments of the gastrointestinal (GI) tract.

MLP

multiple polyps


Input: The effect of two different SNP (INSIG2: rs7566605, FTO: rs9939609) was analysed on the change of weight status in a one-year lifestyle intervention among 280 overweight children (mean age 10. 8 years, mean body mass index (BMI) 28. 1 kg/m (2)).

weight


Input: The production of IL-6 and TNF-alpha was elevated in atopic compared to nonatopic patients studied.

TNF-alpha

atopic


Input: These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Recombinant adenovirus-mediated intestinal trefoil factor gene therapy for burn-induced intestinal mucosal injury.

intestinal trefoil factor

adenovirus


Input: VPA inhibits the EMT in PCa cells via the inhibition of SMAD4 expression and the mono-ubiquitination of SMAD4.

mono


Input: Interaction of vascular endothelial growth factor 165 with neuropilin-1 protects rheumatoid synoviocytes from apoptotic death by regulating Bcl-2 expression and Bax translocation.

translocation


Input: We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.

prostate cancer

prostate cancer


Input: Using human SMCs, human arterial tissue, and mouse models, we report that SMC plasticity is governed by the DNA-modifying enzyme ten-eleven translocation-2 (TET2).

SMC

translocation


Input: In this study, we demonstrate that inducible expression of c-fos in the epidermis of adult mice is sufficient to promote inflammation-mediated epidermal hyperplasia, leading to the development of preneoplastic lesions.

c-fos

epidermal hyperplasia


Input: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

liver glycogen synthase

hypoglycemia


Input: In this study, we report that insulin increases the expression of T-bet in breast cancer cells, which correlates with reduced expression of GATA-3, FOXA1, and the ERalpha: FOXA1: GATA-3 target gene GREB-1.

T-bet

breast cancer


Input: Hsc70 regulated NCL translocation via stabilizing NCL and enhancing its interaction with nonmuscle myosin heavy chain 9.

translocation


Input: PDLIM5, S100A10 and TNF mRNA showed also an interesting pattern of expression with regards to MDE evolution.

MDE

MDE


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

RAX

melanoma

RAX

melanoma


Input: These results set ZEB1 as an effector of β-catenin/TCF4 signaling in EMT and tumor progression.

EMT

tumor progression


Input: The mono-allelic loss of the IGF-I receptor (IGF1R) gene was confirmed in a child with prenatal and severe postnatal growth retardation by fluorescence in situ hybridization, and was evaluated on the protein level in fibroblasts of the patient by FACS analysis and IGF cross-linkage.

severe postnatal growth retardation


Input: The results indicated that transcription and expression levels of WWP1, Smurf1 and Smurf2 genes in prostate cancer without bone metastasis were significantly higher compared to those in benign prostate hyperplasia (P < 0. 05), whereas significantly lower than prostate cancer metastatic to bone (P < 0. 05).

benign prostate hyperplasia


Input: The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6.

sporadic


Input: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously).

body weight


Input: These findings collectively reveal a novel role for the p53 target gene SIVA both in regulating metabolism and in enabling tumorigenesis, independently of p53.

SIVA

tumorigenesis


Input: The aim of this work was to search for molecular links between xanthine oxidase-induced oxidative stress and inflammation in Type I diabetes and to assess the ability of allopurinol, a drug widely used in clinical practice, to prevent both processes.

xanthine oxidase

inflammation


Input: Heightened expression of tumor necrosis factor (TNF)-alpha and lymphotoxin-alpha (LT-alpha) was associated with pregnancy complications, including idiopathic recurrent miscarriage (RM).

lymphotoxin-alpha

pregnancy complications


Input: In the present study, the authors investigated the clinical, histopathological, and immunohistochemical features in familial breast cancer (FBC) patients and compared them with findings in sporadic breast cancers (SBCs); hormone receptor status was stratified by age.

hormone receptor

sporadic


Input: Additionally, we identify a mechanism used by PAX3-FOXO1 to inhibit MST1 signaling and promote tumorigenesis in aRMS.

tumorigenesis


Input: A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency (MCD).

HCS

multiple carboxylase deficiency

HCS

multiple carboxylase deficiency


Input: For example, despite a low plasma FXI = 1 IU dl (-1), a clinically non-bleeding individual exhibited normal TG results whereas another patient with severe bleeding history and FXI = 40 IU dl (-1) had a very low TG capacity.

FXI

bleeding


Input: Protection against hypoxia-induced cell death due to TSC2 deficiency is rapamycin-resistant, suggesting that TSC2 affects an apoptotic pathway.

hypoxia


Input: Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

cartilage oligomeric matrix protein

pseudoachondroplasia

cartilage oligomeric matrix protein

pseudoachondroplasia


Input: No dysregulation of CIDEA expression was observed in individuals with the metabolic syndrome when compared with body mass index-matched controls.

CIDEA

body mass index


Input: In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India.

PDYN

PDYN