Input: These results suggest that the gain of Cited2 function counteracts glucocorticoid-induced muscle atrophy through inhibition of proteolysis mediated by p300-dependent gene transcription.

muscle atrophy

muscle atrophy


Input: An additional case of follicular lymphoma showed translocation of bcl-2 gene with involvement of the minor cluster region (mcr), making a total of nine out of 16.

bcl-2 gene

translocation


Input: Our results demonstrate that PAP may play a pro-proliferative role in hypoxic GSCs with a HIF2α-induction pattern, which may be ascribed to stimulated A2B receptors and activated Akt and Erk-1/2 pathways.

PAP

hypoxic


Input: We show strongly increased T cell expression of CD134 in a model of T helper 2-mediated systemic autoimmunity, induced by HgCl2.

autoimmunity

autoimmunity


Input: Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.

skin squamous cell carcinoma


Input: While tumors have been shown to overcome the stress associated with GD or hypoxia by stimulating vascular endothelial growth factor (VEGF)-mediated angiogenesis, the role of AAD in tumor angiogenesis remains to be elucidated.

VEGF

hypoxia


Input: Both hypoxia and TGFbeta-1 have been shown to regulate VEGF in other cell types.

VEGF

hypoxia


Input: Six independent studies have reported evidence of linkage between systolic pressure and chromosome 16p12 that incorporates SCNN1G, the gene encoding the gamma-subunit of the epithelial sodium channel.

systolic pressure


Input: The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that in the brain, regulates several important physiological functions such as neuronal development and synaptic plasticity, and also seems to be involved in many pathologies, including epilepsy and psychiatric disorders.

serine/threonine kinase

epilepsy


Input: We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.

Omenn syndrome

Omenn syndrome


Input: Mutations in RPE65 cause early-onset blindness, and Rpe65-deficient mice lack 11-cis-retinal but overaccumulate alltrans-retinyl esters in the retinal pigment epithelium (RPE).

blindness

blindness


Input: The present study sought to investigate the contribution of an autophagy inhibitor (3-methyladenine, 3-MA) on the regulation of ZnTs, microtubule-associated protein 1A/1B light chain 3 (LC3), and beclin-1 expression in rat hippocampus following recurrent neonatal seizures.

microtubule-associated protein 1A

neonatal seizures


Input: RER-positive phenotypes were detected in none of 13 protruded type adenomas, two (33%) out of six superficial elevated type adenomas and two (50%) out of four carcinomas.

RER

carcinomas


Input: SREBP-2 was similarly under the transcriptional control of CREB and its induction regulates the expression of matrix metalloproteinases (MMPs), key degradative enzymes involved in bone metastases by breast cancer cells.

metastases

metastases


Input: HRG immunoreactivity was found in interstitial cells of the gastric ulcer bed and coexpressed with COX-2.

HRG

gastric ulcer


Input: To achieve hepatoma-restricted cytotoxicity and enhance replication of Ad within the context of tumor microenvironment, we used a modified human α-fetoprotein (hAFP) promoter to control the replication of Ad with a hypoxia response element (HRE).

α-fetoprotein

hypoxia


Input: After viral infection, HSCARG interacted with tumor necrosis receptor-associated factor 3 (TRAF3) and inhibited its ubiquitination by promoting the recruitment of OTUB1 to TRAF3.

HSCARG

viral infection


Input: The catechol-o-methyltransferase val158met polymorphism was weakly associated with the personality traits,' Spirituality' (P = 0. 040) and irritable temperament (P = 0. 022).

catechol-o-methyltransferase

personality traits


Input: AIM: We investigated the angiogenesis and density of newly formed blood vessels in embryonal tumors in relation to Ki-67, bcl-2, p-53 and p-27 expression.

AIM

embryonal tumors


Input: The gene coding for these transcript (the bcl-2 gene) seems to be interrupted in most cases of follicular lymphomas carrying the t (14; 18) chromosomal translocation.

bcl-2 gene

chromosomal translocation


Input: After 14 days' exposure to hypobaric hypoxia, pulmonary arterial pressure (PAP) was significantly increased.

PAP

hypoxia


Input: Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.

secondary


Input: A novel SVM-ID3 hybrid feature selection method to build a disease model for melanoma using integrated genotyping and phenotype data from dbGaP.

melanoma


Input: IL-22 has also been shown to modulate cell cycle and proliferation mediators such as extracellular signal-regulated kinase (ERK) and c-Jun N-terminal kinase (JNK), but little is known about the underlying molecular mechanisms of IL-22 in tumorigenesis.

tumorigenesis


Input: This meta-analysis suggested that CYP2E1 Pst I/Rsa I polymorphism might be not significantly associated with advanced form of ALD (ALC), but might be significantly associated with other form of ALD such as steatosis, hepatisis, fibrosis.

ALC

fibrosis


Input: FTO is a nucleic acid demethylase, and a deficiency in FTO leads to a complex phenotype highlighted by postnatal growth retardation, pointing to some fundamental developmental role.

FTO

postnatal growth retardation


Input: Furthermore, we determined that prostate cancer cells express high levels of CTR1, the primary copper transporter, and additional chaperones that are required to maintain intracellular copper homeostasis.

prostate cancer

prostate cancer


Input: We used two strains of cultured oral cancer cells, one with reduced EGFR expression (OECM1 cells) and one with elevated EGFR expression (SAS cells), and measured downstream effects, such as phosphorylation of beta-catenin and GSK-3beta, association of beta-catenin with E-cadherin, and target gene regulation.

SAS

oral cancer


Input: A missense SNP in the DEAD box polypeptide 5 (DDX5) gene was significantly associated with an increased risk of advanced fibrosis in both the UCSF and the VCU cohorts (OR, 1. 8 and 2. 2, respectively).

fibrosis


Input: Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).

PLP

PMD

PLP

PMD


Input: Polymorphisms in two sites of TNF-α gene promoter do not alter the risk of pancreatitis.

α gene

pancreatitis


Input: Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0. 0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups.

GFR

creatinine level


Input: Five additional BSNS cases with typical morphology were studied by FISH, revealing a PAX3-MAML3 fusion in 4 cases and only PAX3 rearrangement in the remaining case without abnormalities in MAML3 or NCOA1 gene.

NCOA1 gene

abnormalities


Input: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

CDG-Ia

CDG-Ia


Input: Also, genome instability resulting from an excess of DDB2 persisting in UV-irradiated cells is prevented by concurrent p97 overexpression.

genome instability


Input: Genetic evidence from the study of Cav-1 (-/-) null mice and human breast cancer mutations [CAV-1 (P132L)] supports the idea that caveolin-1 normally functions as a negative regulator of cell transformation and mammary tumorigenesis.

CAV

mammary tumorigenesis


Input: Evidence for GO induced autophagy includes increased levels of isoform B-II microtubule-associated protein 1 light chain 3 (LC3), aggregation of green fluorescence protein-tagged LC3, and increased numbers of autophagic vacuoles in cells.

autophagic vacuoles


Input: Furthermore, we demonstrated that FoxM1 was required for the G (2)-M phase progression through regulating Cdc2, Cdc20, and Cdc25B under a mild heat shock stress but enhanced cell survival under lethal heat shock stress condition.

mild


Input: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Wilson disease

Wilson disease


Input: Most familial cases of pheochromocytoma and/or paraganglioma and 10-20% sporadic cases carry germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, or MAX.

MAX

sporadic


Input: Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies.

MAD

hyperpigmentation


Input: To address this issue, we evaluated expression of several proangiogenic factors [interleukin (IL)-8, vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF)-2, stromal-derived factor (SDF)-1, hepatocyte growth factor (HGF) and leukemia inhibitory factor (LIF)] in 8 human RMS cell lines in both normal steady-state and hypoxic conditions.

VEGF

hypoxic


Input: While enzyme replacement therapy (ERT) with idursulfase has been shown to improve many somatic features of the disease, some such as dysostosis multiplex and cardiac valve disease appear irreversible once established, and little is known about the preventative effects of ERT in pre-symptomatic patients.

ERT

dysostosis multiplex


Input: So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who presented with exercise intolerance, post-exercise myalgia and mild hyperCKemia but no pigmenturia.

mild


Input: However, the frequency of primary liver carcinoma (PLC) with biliary differentiation, such as cholangiocarcinoma (CC) and combined hepatocholangiocarcinoma (CHCC), in GH remains unclear We analyzed the histologic type of 20 PLCs occurring in the background of GH; all patients were homozygotic for the C282Y mutation.

PLC

cholangiocarcinoma


Input: Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na (V) 1. 2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS).

BFNIS

BFNIS


Input: AEG-1 protects normal cells from serum starvation-induced death through protective autophagy, and inhibition of AEG-1-induced autophagy results in serum starvation-induced cell death.

starvation


Input: Our findings provide further tentative evidence of the role of IL-1 in alcohol dependence as well as evidence that the nature of the associations may be direct, gender-specific, or involve haplotype effects.

alcohol dependence

alcohol dependence


Input: Foxa2 regulates alveolarization and goblet cell hyperplasia.

hyperplasia


Input: In this study, we demonstrated that microRNA-7 (miR-7) appears to be a novel tumor-suppressor miRNA, which abrogates the stemness of PCSCs and inhibits prostate tumorigenesis by suppressing a key stemness factor KLF4.

tumorigenesis


Input: To investigate whether the breast parenchymal SER around the tumor on preoperative dynamic contrast-enhanced magnetic resonance imaging (MRI) is associated with subsequent IBTR in breast cancer patients who had undergone breast-conserving treatment.

MRI

breast cancer


Input: Cripto-1 may be capable of up-regulating signalling molecules associated with epithelial-to-mesenchymal transition (EMT), an important event characterized by loss of E-cadherin during malignant tumour progression and metastasis.

EMT

tumour progression


Input: CIC-DUX4 and CIC-FOXO4 fusions have been reported in soft tissue tumors, while BCOR-CCNB3 fusion with an X chromosomal inversion was described in both bone and soft tissue tumors.

BCOR

soft tissue tumors


Input: Association between functional polymorphisms of Foxp3 gene and the occurrence of unexplained recurrent spontaneous abortion in a Chinese Han population.

Foxp3 gene

recurrent spontaneous abortion


Input: We report a novel MLL-associated chromosome translocation t (11; 14) (q23; q24) in a child who showed signs of acute undifferentiated leukemia 3 years after intensive chemotherapy that included the topoisomerase-II inhibitor VP 16.

MLL

acute undifferentiated leukemia

MLL

acute undifferentiated leukemia


Input: In addition, the serum levels of interleukin-3 (IL-3), IL-5, IL-6, IL-13, CD40, and tumor necrosis factor-alpha and the plaque contents of IL-6 and matrix metalloproteinase-9 were reduced in mice with CCR5-overexpressing EPC treatment.

plaque


Input: SEMD, MR, microcephaly, ataxia, facial dysmorphism and hirsutism of back and legs were noted in the two children.

SEMD

hirsutism


Input: The gene encoding catechol-O-methyltransferase (COMT), an enzyme which regulates prefrontal cortex dopamine, contains a common functional single nucleotide polymorphism (val158met, rs4680G/A), which accounts for part of the interindividual variance in performance during working memory tasks and also predicts personality traits.

COMT

personality traits


Input: We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotransferase (ALT), or level of ALT alone, was associated with rs738409 (patatin-like phospholipase domain-containing protein 3 [PNPLA3]), rs2228603 (neurocan [NCAN]), rs12137855 (lysophospholipase-like 1), rs780094 (glucokinase regulatory protein [GCKR]), and rs4240624 (protein phosphatase 1, regulatory subunit 3b [PPP1R3B]) using regression modeling in an additive genetic model, controlling for age, age-squared, sex, and alcohol consumption.

alanine aminotransferase

alcohol consumption


Input: The mRNA expression of neuroglobin, myoglobin and hypoxia markers (HIF1α and VEGFa) was measured with qRTPCR, while neuroglobin promoter methylation was assessed with Pyrosequencing.

VEGFa

hypoxia


Input: Among 1135 cases and 1135 controls, findings suggests that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.

bipolar disorder

bipolar disorder


Input: We have previously reported an overexpression of Smad1 in follicular lymphoma (FL) cells, which are characterized by the t (14; 18) bcl2/IgH translocation.

translocation


Input: To gain insight into its potential role in other epithelia we have investigated the expression of NGAL in human skin embryonic development, in normal adult skin, and in skin associated with inflammation and neoplastic transformation.

NGAL

neoplastic transformation


Input: The engineered CD4 (+) T cells and CD8 (+) T cells both exhibited specific cytotoxicity against CD19 (+) leukemia and lymphoma cell lines, as well as against CD19 transfectants, and produced high-levels of antigen-dependent Th1 (but not Th2) cytokines.

lymphoma


Input: The treatment of mice with brain metastasis improves survival decreasing reactive astrocytes and angiogenesis, and down-regulate FN14 and its ligand TWEAK.

TWEAK

brain metastasis


Input: When the cells were subjected to hypoxia, the PAF-induced production of VEGF was enhanced by 6. 7-fold as compared to the unstimulated cells incubated under normoxia.

VEGF

hypoxia


Input: Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.


Input: Multivariate analysis of residual disease showed significant associations between breast cancer subtype and MRI (area under the curve [AUC], 0. 84; P <. 001).

MRI

breast cancer


Input: To determine whether somatic mutation of the Pin1 gene is involved in the development and/or progression of gastric cancer, we searched for mutations of the Pin1 gene in 95 gastric cancer specimens.

Pin1 gene

somatic mutation


Input: Dysregulation of PI3K-AKT-mTOR pathway has been reported in various pathologies, such as cancer and insulin resistance.

insulin resistance


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

Kir2. 1

epilepsy


Input: Sp1 is involved in 8-chloro-adenosine-upregulated death receptor 5 expression in human hepatoma cells.

hepatoma


Input: Stable SET knockdown in head and neck squamous cell carcinoma promotes cell invasion and the mesenchymal-like phenotype in vitro, as well as necrosis, cisplatin sensitivity and lymph node metastasis in xenograft tumor models.

SET

necrosis

SET

necrosis


Input: These results suggest that STAT3 is a target of beta-catenin/TCF pathway and might participate in esophageal tumorigenesis.

esophageal


Input: Given the role of ERK1/2, alphaCaMKII and CREB in neuroplastic mechanisms and cell communication, our data suggest that their decreased activation following chronic PCP administration can contribute to cortical defects occurring in schizophrenia, and may therefore represent potential targets for pharmacological intervention.

schizophrenia

schizophrenia


Input: A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).


Input: Thirteen patients with up to two-week-old phlebothromboses were treated with streptokinase and human plasminogen according to a fixed dosage scheme.

plasminogen

phlebothromboses

plasminogen

phlebothromboses


Input: These findings suggest that that the I/D polymorphism of the ACE gene influences the relationship between left ventricular mass and echocardiographic left ventricular diastolic filling abnormalities in patients with essential hypertension.

ACE gene

left ventricular mass


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

VEGF

hypoxia


Input: We describe a patient with acute promyelocytic leukemia (APL) and the karyotype 46, XX, i (17) (q10) with PML-RARA fusion gene detected by fluorescence in situ hybridization (FISH) and nested reverse transcriptase-polymerase chain reaction (RT-PCR).

acute promyelocytic leukemia


Input: A number of studies have been devoted to the association of CYP1A1 or GSTM1 polymorphism with susceptibility to esophageal carcinoma and have yielded conflicting results.

carcinoma


Input: We measured the mRNA levels of electron transport chain genes, and mitochondrial structural genes, Drp1 (dynamin-related protein 1), Fis1 (fission 1), Mfn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optric atrophy 1), Tomm40 (translocase of outermembrane 40) and CypD (cyclophilin D) in grade III and grade IV HD patients and controls.

atrophy


Input: The BRCA1-related subgroup mostly displayed non-luminal phenotypes, of which basal-like were most prominent, whereas the other two genomic instability subgroups BRCA2-and GII-high-III (non-BRCA), were almost entirely of luminal phenotype.

genomic instability


Input: Four studies comprising 260 stroke patients with PSD and 381 without were included.

PSD

stroke


Input: The CEA/HER2 vaccine was tested in two different CEA/HER2 double-transgenic mouse models and in NOD/scid-DR1 mice engrafted with the human immune system.

scid


Input: Eosinophilic pustular folliculitis (EPF) is a chronic intractable pruritic dermatosis characterized by massive eosinophil infiltrates involving the pilosebaceous units.

EPF

dermatosis


Input: Candidate genes (TYMS, MTHFR, ABCB1, BGLAP, ACP5, LRP5, ESR1, PAI-1, VDR, PTH, and PTHR) were chosen based on putative mechanisms underlying osteonecrosis risk.

TYMS

osteonecrosis


Input: Furthermore, overexpression of BOB. 1/OBF. 1 represents a characteristic feature of these tumors that is useful in their identification.

OBF

tumors


Input: In conclusion, the minor variant at FTO rs9939609 seems to play no major role in the increased weight-for-height of PA subjects; but the risk allele at TCF7L2 rs7903146 may have a role in the pathogenesis of PA in lean subjects.

FTO

height


Input: Forced expression of ARTN in ER-positive human mammary carcinoma cells increased ER transcriptional activity, promoted estrogen-independent growth and produced resistance to tamoxifen and fulvestrant in vitro and to tamoxifen in xenograft models.

ARTN

human mammary carcinoma

ARTN

human mammary carcinoma


Input: Quantitative real-time PCR (qRT-PCR) was performed to detect the expression of miR-16-1 in normal brain tissues and two glioma cell lines, including U251 and U87.

glioma


Input: A chimeric yellow fever-dengue 1 (ChimeriVax-DEN1) virus was produced by the transfection of Vero cells with chimeric in vitro RNA transcripts.

yellow fever


Input: We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE.

AEP

prelingual deafness


Input: In addition, (18) F-FLT plaque signal correlated with the duration of high cholesterol diet (r (2) = 0. 33, P < 0. 05).

FLT

plaque


Input: No correlation was found between the reduced GLP-1R expression and clinical parameters including body mass index, age, glycosylated hemoglobin, and disease duration.

body mass index


Input: Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM #308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome.

MIM

neurological disorders


Input: Over-expression of MTSS1 reduced the growth, invasion, adhesion and migration of kidney cell lines in vitro.

adhesion


Input: After adjustment for smoking and drinking status, the male patients without smoking or drinking status (group 4) had higher ALDH2 * 2 allele frequency than group 1, but the difference was still not significant (P = 0. 139).

smoking


Input: Mouse mammary tumor virus-neu mice were bred with Id1-/-Id3 +/-mice to ascertain the role of Id1 and Id3 in mammary tumorigenesis in a more physiologically relevant model.

mammary tumorigenesis


Input: In summary, our data suggest that the TRPV1 antagonist, AMG9810, promotes mouse skin tumorigenesis mediated through EGFR/Akt/mTOR signaling.

tumorigenesis


Input: The β-cell is subject to a number of other stressors, including insulin resistance and hyperglycaemia, that may contribute to amyloid formation by increasing IAPP production by the β-cell.

IAPP

insulin resistance


Input: Furthermore, levels of crystallin gene expression are correlated with the severity of MIA as assessed by placental weight.

MIA

weight


Input: The body mass index (BMI) and the circulating levels of chemerin and other inflammatory, adiposity and insulin resistance markers were assessed in female and male adults of varying degree of obesity.

chemerin

body mass index


Input: TNF a was up-regulated, consistent with a cachexia phenotype and EGF levels were increased.

EGF

cachexia


Input: Adiponectin receptor-1 and monocyte chemoattractant protein-1 mRNA expressions were significantly higher in visceral but not in subcutaneous adipose tissue of the ESRD group.

Adiponectin receptor-1

ESRD

Adiponectin receptor-1

ESRD


Input: Nine of 50 MS patients became hypomanic or manic during treatment with ACTH or prednisone.

ACTH

manic

ACTH

manic


Input: TFF3 mediated induction of VEGF via hypoxia in human gastric cancer SGC-7901 cells.

VEGF

hypoxia


Input: Body-weight (BW), body composition, leptin concentration, and polymorphisms of the PLIN gene: PLIN1: rs2289487, PLIN4: rs894160, PLIN6: rs1052700, PLIN5: rs2304795 and PLIN7: rs 2304796 were determined.

weight


Input: The first steps of invasion and metastasis include the dissociation of adherens junctions and the induction of migratory phenotype, through a program that resembles epithelial-mesenchymal transition (EMT).

EMT

dissociation


Input: We demonstrate here that the transcriptional modulator megakaryocytic leukemia 1 (MKL1) was activated by hypoxia and transforming growth factor (TGF-β), two prominent pro-malignancy factors, in cultured lung cancer cells.

TGF-β

hypoxia


Input: HIF-1alpha protein levels were increased by hypoxia in 3 of 4 colorectal carcinoma cell lines (COLO201, DLD-1, WiDr), and VEGF mRNA levels were also increased by hypoxia in the same cell lines.

VEGF

hypoxia


Input: Tollip is a critical mediator of cerebral ischaemia-reperfusion injury.

Tollip

cerebral ischaemia


Input: In starvation-stressed TBP/Q36 and TBP/Q79 cells, increased reactive oxygen species generation accelerated the cytoplasmic translocation of HMGB1, which accompanied autophagy activation.

starvation


Input: Genetic variants of CARD15 that might result in inappropriate immunomodulation are not only associated with autoimmune diseases but also with atopic disorders.

atopic


Input: MicroRNA expression profile and functional analysis reveal that miR-382 is a critical novel gene of alcohol addiction.

alcohol addiction

alcohol addiction


Input: The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate.

MDST

MDST


Input: These data show that cisplatin resistance in HGS carcinoma develops from pre-existing minor clones but that enrichment for these clones is not apparent during short-term chemotherapy treatment.

HGS

carcinoma


Input: All cases were analyzed for chromosomal aberrations commonly observed in nodal large B-cell lymphomas, including structural aberrations of the genes BCL2, BCL6, and c-MYC, and numerical aberrations of the chromosomes/genes 3, 7, 8, 11, 12, 13, 17, 18q, RB1, and p53.

MYC

chromosomal aberrations


Input: The melanocortin hormones regulate pigmentation, cortisol production, food intake, and body weight by signaling through five G protein-coupled receptors positively coupled to the cAMP pathway (MC1R-MC5R).

pigmentation


Input: Altered expression of TAP-1 and major histocompatibility complex class I in laryngeal papillomatosis: correlation of TAP-1 with disease.

TAP

laryngeal papillomatosis


Input: The results were replicated in an independent sample of bipolar manic patients treated with antipsychotics (n tot = 470, the sample was retrieved from the STEP-BD).

STEP

manic


Input: FGFR1 mRNA expression was higher in depression than in the other groups in CA1, CA4 and DG.


Input: We describe a patient with a PGRN c. 26C > A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism.

PGRN

mild


Input: In contrast, the detection rate of IFN-Rc mRNA in chronic persistent hepatitis, chronic hepatitis 2A, chronic hepatitis 2B and liver cirrhosis (LC) was 100, 71. 4, 22. 2 and 0%, respectively.

IFN

chronic persistent hepatitis


Input: Individuals with an ADH1B * 2 allele had lower rates of AUDs, consumed a lower maximum number of drinks in a 24-hr period, reported a greater level of response to alcohol, were more likely to have experienced alcohol-induced headaches following 1 or 2 drinks, and reported more severe hangovers than those lacking this allele.

hangovers

hangovers


Input: Both sildenafil and shRNA (PDE-5) significantly improved viability, decreased necrosis, apoptosis, and enhanced the release of growth factors, vascular endothelial growth factor (VEGF), basic fibroblast growth factor (b-FGF), and insulin-like growth factor.

VEGF

necrosis


Input: However, the exact mechanism of tumorigenesis involving p75NTR is unknown.

tumorigenesis


Input: Thus, a novel genomic region on 18q21. 1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus " OFC11 " (orofacial cleft 11).

NSCL

orofacial cleft 11


Input: Our work shows that activation of mTOR by Ras homologue enriched in brain (Rheb) overexpression potently enhances the activity of HIF1alpha and vascular endothelial growth factor (VEGF)-A secretion during hypoxia, which is reversed with rapamycin.

VEGF

hypoxia


Input: The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene.

IDS gene

mild


Input: Knockdown of B-Raf (V600E) resulted in TSP-1 down-regulation and a reduction of adhesion and migration/invasion of human thyroid cancer cells.

adhesion


Input: We propose that loss-of-function mutations in TDP1 may cause SCAN1 either by interfering with DNA transcription or by inducing apoptosis in postmitotic neurons.


Input: The t (14; 18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr).

translocation


Input: So far, PHF1 was found to be the 3' partner in the JAZF1-PHF1 and EPC1-PHF1 chimeras but since the 6p21 rearrangements involve also other chromosomal translocation partners, other PHF1-fusions seem likely.

chromosomal translocation


Input: Somatization was evaluated using the respective subscale of the Symptom Checklist SCL-90-R. Six monoaminergic genes were identified showing an involvement in pain perception and somatization according to the literature: COMT, HTR2A, SLC6A2, SLC6A4, DRD4, and TPH1.

somatization


Input: Although the molecular basis of piebaldism has been unclear, a phenotypically similar " dominant spotting " of mice is caused by mutations in the murine c-kit protooncogene.

c-kit protooncogene

piebaldism

c-kit protooncogene

piebaldism


Input: To test whether genetic instability might accelerate tumor progression, we generated Apc (Min/+) mice homozygous for the hypomorphic allele of the Nijmegen breakage syndrome gene (Nbs1 (DeltaB)) and also treated Apc (Min/+) mice with a strong somatic mutagen.

tumor progression


Input: In metastatic colon cancer cells, HMGA1 induces expression of Twist1, a gene involved in embryogenesis, EMT, and tumor progression, while HMGA1 represses E-cadherin, a gene that is down-regulated during EMT and metastatic progression.

EMT

tumor progression


Input: In conclusion, PTK2 and EIF3S3, which, respectively, encode focal adhesion kinase and the p40 subunit of the eukaryotic initiation factor 3, were probable targets within the amplification at 8q23-q24 and may be involved in progression of HCC.

HCC

HCC


Input: These tumors are genetically characterized by B-cell leukemia/lymphoma 2 (BCL2) translocation and mutation of genes involved in chromatin modification.

translocation


Input: Other researchers have shown that overexpression of PKC-epsilon in fibroblasts results in tumorigenesis, and that blocking PKC-zeta function inhibits deoxyribonucleic acid synthesis.

PKC-zeta

tumorigenesis


Input: Gastrointestinal tumors with DNA mismatch repair (MMR) defects show microsatellite instability (MSI) and harbor frameshift mutations in coding mononucleotide repeats of cancer-related genes (targets).

MMR

microsatellite instability


Input: To study genotype and phenotype correlation of haemophilia A in Thai patients, molecular defects of the factor VIII (FVIII) gene were examined and their correlation with clinical phenotypes were evaluated.

FVIII

haemophilia A

FVIII

haemophilia A


Input: Ten years after diagnosis, 35% of CD and 51% of CRD had a bull' s eye maculopathy; 70% of CRD showed absolute peripheral visual field defects and 37% of CD developed rod involvement on ERG.

ERG

bull' s eye maculopathy


Input: CaSR knock-in mice exhibited low bone turnover due to the deficiency of PTH, and JTT-305/MK-5442 as well as PTH (1-34) increased bone turnover and bone mineral density (BMD) in these mice.

PTH

bone mineral density


Input: We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis.


Input: Our results demonstrated for the first time that ESAT-6-and CFP-10-specific Th1, Th22 and Th17 cells existed in the patients with TBP and might play an essential role against M. tuberculosis infection.

tuberculosis infection


Input: We evaluated the regulation and function of the key angiogenic mediator vascular endothelial growth factor (VEGF) in CAFs exposed to hypoxia.

VEGF

hypoxia


Input: Here we selected six SNPs (rs5361 in SELE, rs2066865 in FGG, rs2227589 in SERPINC1, rs1613662 in GP6, rs13146272 in CYP4V2, rs2289252 in F11) reported to be associated with venous thrombosis conditions and studied the association of these common variants in selected case (n = 177) and control (n = 235) groups from population of Latvia.

SELE

venous thrombosis


Input: They were longer than any previously reported truncated XPA protein, suggesting that the minimal cutaneous symptoms in these patients are due to a higher residual level of XPA protein activity and that the subtle defect in the C-terminus of XPA protein is more closely related to neurological impairment than to cutaneous abnormalities.

XPA

abnormalities


Input: Here, we demonstrate the involvement of the SP/NK-1R system in human H-69 (SCLC) and COR-L23 (NSCLC) cell lines: (1) they express isoforms of the NK-1R and mRNA for the NK-1R; (2) they overexpress the tachykinin 1 gene; (3) the NK-1R is involved in their viability; (4) SP induces their proliferation; (5) NK-1R antagonists (Aprepitant (Emend), L-733, 060, L-732, 138) inhibit the growth of both cell lines in a concentration-dependent manner; (6) the specific antitumor action of these antagonists against such cells occurs through the NK-1R; and (7) lung cancer cell death is due to apoptosis.

lung cancer


Input: In addition, down-regulation of N-cadherin by siRNA promoted the migration and invasion of glioma U251 and U87 cells and abolished the inhibitory effect of FRK on glioma cell migration and invasion.

glioma


Input: Synergistic effect of non-transmissible Sendai virus vector encoding the c-myc suppressor FUSE-binding protein-interacting repressor plus cisplatin in the treatment of malignant pleural mesothelioma.

FUSE-binding protein-interacting repressor

mesothelioma

FUSE-binding protein-interacting repressor

mesothelioma


Input: In this study, we investigated glucose-regulated protein 94 (GRP94) expressions in human glioma and aimed to determine the roles of GRP94 expression affects cell proliferation, invasion, and regulatory signaling in human glioma U87 cells.

glioma


Input: This is the first evidence of nuclear translocation of cathepsins B and D and the first in vivo evidence of nuclear translocation of cytochrome c. The appearance of these mitochondrial proteins and lysosomal enzymes before signs of irreversible neuronal death suggests that they could contribute to seizure-induced nuclear pyknosis and DNA fragmentation.

cytochrome c

seizure


Input: Using somatic targeted mutagenesis, we show that mice lacking Lrh1 in granulosa cells are sterile, due to anovulation.

anovulation

anovulation


Input: To test whether NADPH oxidase is involved in oxygen sensing, we exposed wild-type B-cell lines as well as cytb-CGD-derived B cell lines, deficient in either p22phox or gp91phox, to hypoxia (1% oxygen) or CoCl2 (100 mumol/L) and compared the mRNA levels of VEGF and aldolase with the untreated controls.

VEGF

hypoxia


Input: Thus far, only 4 reports worldwide have analyzed the GGN repeat, alone or in combination with the CAG repeat, in male infertility cases.

GGN

male infertility


Input: To examine whether HIF-1 is involved in the tumorigenesis of RMG-1 cells, we established HIF-1α-silenced cells, RMG-1HKD.

tumorigenesis


Input: Rac2-MRC-cIII-generated ROS cause genomic instability in chronic myeloid leukemia stem cells and primitive progenitors.

genomic instability


Input: Mammalian homologues of Bv8, the prokineticins PK1 and PK2, and their G-protein coupled receptors prokineticin receptor 1 (PKR1) and prokineticin receptor 2 (PKR2) have been identified and linked to several biological effects as gut motility, neurogenesis, angiogenesis, circadian rhythms, hematopoiesis, and nociception.

circadian rhythms


Input: Thyroid hormone, T3-dependent phosphorylation and translocation of Trip230 from the Golgi complex to the nucleus.

translocation


Input: NT5E and FcGBP as key regulators of TGF-1-induced epithelial-mesenchymal transition (EMT) are associated with tumor progression and survival of patients with gallbladder cancer.

EMT

tumor progression


Input: PTEN deletions in prostate cancer are associated with tumor aggression and poor outcome.

PTEN

aggression


Input: These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.

peroxiredoxin 6

HCC

peroxiredoxin 6

HCC


Input: Interestingly, LPA and its receptors have also been implicated in the tubular interstitial cell fibrosis (TIF) and cyst formation in autosomal dominant polycystic kidney disease (PKD).

LPA

autosomal dominant polycystic kidney disease


Input: The fact that the hypermutation sites and mutational spectrum of BCL6 in PMBL differ from those found in FL and DLCL might suggest that the maturation block of the transforming cells differs among these tumor types, and that the characteristic mutational pattern is present before neoplastic transformation.

neoplastic transformation


Input: In conclusion, our results demonstrate that RASSF1A and p16 (INK4a) inactivation by methylation are frequent events in hepatocellular carcinoma, but not in HCA, which is in contrast to HCC without cirrhosis, viral hepatitis, storage diseases, or genetic background.

viral hepatitis


Input: Given that abnormalities in the formation of synaptic junctions are thought to contribute to cognitive dysfunction during brain development, we have analyzed and compared the gene structure of the Piccolo gene, PCLO, from humans and mice and determined their chromosomal localization.

PCLO

abnormalities


Input: In this study, we successfully constructed a triple-controlled cancer-selective oncolytic adenovirus, QG511-HA-Melittin, carrying melittin gene, in which the hybrid promoter, hypoxia-response element (HRE)-AFP promoter, was used to control viral E1a expression targeting AFP-positive cancer cells in hypoxia microenviroment, and the E1b-55 kDa gene was deleted in cancer cells with p53-deficiency.

AFP

hypoxia


Input: It has been suggested that segmental NF results from a postzygotic NF1 gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots and freckles by demonstrating an NF1 microdeletion restricted to fibroblasts cultured from CAL spots.

CAL

freckles


Input: Presence of a p16 hit was significantly correlated with high FIGO stage (p = 0. 04), high histologic grade (p = 0. 02), estrogen receptor negativity (p = 0. 05), pathologic expression of p53 (p = 0. 02), pathologic expression of p16 (p = 0. 05) and poor survival (p = 0. 02).

estrogen receptor

hit


Input: We investigated the functional role of NDRG2 and its clinical relevance in RCC tumorigenesis.

tumorigenesis


Input: In addition, we found that CDH1 and AXIN2, which are related to the degradation and the translocation of β-catenin, are direct targets of miR-544a.

translocation


Input: In contrast, activating PPARγ attenuates hypoxia-induced PH and endothelin 1 (ET-1) expression.

PPARγ

hypoxia


Input: Among the down-regulated genes, heat shock binding protein 21 (HBP21) was selected for further study.

shock


Input: In the tubulointerstitium, interstitial expression of C5aR mRNA correlated positively with the degree of tubular atrophy and interstitial broadening in mesGN.

tubular atrophy


Input: Ahr-/-mice are viable and fertile but show a spectrum of hepatic defects that indicate a role for the AHR in normal liver growth and development.

AHR

liver

AHR

liver


Input: Pulmonary tumorigenesis was also accelerated by hemizygous inactivation of Lkb1.

tumorigenesis


Input: ELA2 has also been investigated as a possible target of the leukemic fusion protein AML1-ETO resulting from the t (8; 21) chromosomal translocation.

chromosomal translocation


Input: Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

POU1F1 gene

pituitary hormone deficiency


Input: Thus, our study indicated that upregulation of miR-155 in circulating CD4 (+) T cells in patients with UA promoted a shift in the Th1/Th2 balance toward Th1 dominance by repressing IFN-γ Rα, which may subsequently enhance plaque instability.

plaque


Input: In this study the t (14; 18) translocation was identified in 15% of diffuse large B-cell lymphomas, all but one of which exhibited positivity for CD10, bcl2 and bcl6.

translocation


Input: Compared with the control, IkappaBalpha adenoviral infection resulted in reduced caspase 3 activity during the early phase of viral hepatitis and in a prevention of liver cell apoptosis 24 h after adenoviral administration.

IkappaBalpha

viral hepatitis


Input: This study was conducted to measure the levels of LPA and LPA-producing enzymes, autotaxin (ATX) and acylglycerol kinase (AGK) in the vitreous fluid from patients with proliferative diabetic retinopathy (PDR) and to correlate their levels with clinical disease activity and the level of vascular endothelial growth factor (VEGF).

ATX

proliferative diabetic retinopathy


Input: We conclude that androgens may directly affect CRH neurons in the human PVN via AR binding to the CRH-ARE, which may have consequences for sex-specific pathogenesis of mood disorders.

AR

mood disorders

AR

mood disorders


Input: In this study, we immunohistochemically investigated jab1 expression in thyroid neoplasms.

thyroid neoplasms


Input: Here we investigated the histologic changes of cementum and alveolar bone in a pycnodysostosis patient, caused by novel compound heterozygous mutations in the CTSK gene (c. 87 G & gt; A p. W29X and c. 848 A & gt; G p. Y283C).

CTSK

pycnodysostosis

CTSK

pycnodysostosis


Input: K-Ras, p53 and B-Raf mutations and RASSF1A, E-Cadherin and p16INK4A promoter methylation were investigated in 202 CRCs with and without lymph node and/or liver metastasis, to assess whether gene abnormalities are related to a metastogenic phenotype.

E-Cadherin

abnormalities


Input: PAG injection of HS014 (a selective inhibitor of MC4R), not only significantly reduced the established mechanical allodynia and thermal hyperalgesia, but also delayed the development of pain facilitation.

mechanical allodynia


Input: Thus, VEGF may be induced by hypoxia through HIF-dependent and HIF-independent pathways, and K-ras also can induce VEGF in hypoxia independent of HIF-1.

VEGF

hypoxia


Input: This study was undertaken to evaluate the effects of the topoisomerase I inhibitor camptothecin (CPT) on collagen synthesis in the activated dermal fibroblasts from healthy donors and patients with keloid.

CPT

keloid


Input: Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Schnyder crystalline corneal dystrophy

Schnyder crystalline corneal dystrophy


Input: Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.

SZ

SZ


Input: Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure.

epilepsy

epilepsy


Input: Ewing sarcoma gene EWS encodes a putative RNA-binding protein with proposed roles in transcription and splicing, but its physiological role in vivo remains undefined.

RNA-binding protein

sarcoma


Input: A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.

chromosome translocation


Input: These cells exhibit elevated level of GRP78, which protects them from estrogen starvation-induced apoptosis.

starvation


Input: MIF exerts potent proinflammatory activities and is an important cytokine of septic shock.

MIF

septic shock


Input: In conclusion, erythropoietin promotes inflammatory cell apoptosis, drives inflammatory and apoptotic cells into tubular lumens, eventually leads to inflammation clearance, renoprotection and tissue remodelling through caspase-3 and IL-1 & #946; in isolated haemoperfused kidneys.

erythropoietin

inflammation

erythropoietin

inflammation


Input: In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).

FHIT

alcohol consumption


Input: Scoparia dulcis plant extract (SPEt, 200 mg kg-1 day-1) and glibenclamide (600 microg kg-1 day-1), a reference drug, were administered by gavage for 6 weeks to diabetic rats (N = 6 for each group) and significantly reduced blood glucose, sorbitol dehydrogenase, glycosylated hemoglobin, TBARS, and hydroperoxides, and significantly increased plasma insulin, GPx, GST and GSH activities in liver.

sorbitol dehydrogenase

hemoglobin


Input: We apply HBE algorithm to some well known data sets such as leukemia, prostate cancer, diffuse large B-cell lymphoma (DLBCL), small round blue cell tumors (SRBCT) to find some predictor genes that can be utilized for diagnosis and prognosis in a robust manner with a high accuracy.

HBE

prostate cancer


Input: We show that hypoxia, through hypoxia-inducible factor (HIF), can induce an hESC-like transcriptional program, including the induced pluripotent stem cell (iPSC) inducers, OCT4, NANOG, SOX2, KLF4, cMYC, and microRNA-302 in 11 cancer cell lines (from prostate, brain, kidney, cervix, lung, colon, liver, and breast tumors).

hypoxia


Input: A retrospective study was performed on material obtained from oral mucosa, including nine cases of normal mucosa (NB), eight cases of nonspecific chronic inflammation (NCI), seven cases of hyperkeratosis (HK), five cases of squamous cell papilloma (SCP), 29 cases of squamous cell carcinoma (SCC) with various grades of differentiation and 10 cases of epithelium adjacent to carcinoma (EAC).

SCP

hyperkeratosis


Input: Here, we screened a cohort of 14 early-onset sporadic ALS patients (onset age < 35 years) to determine the frequency of mutations in C9orf72, SOD1, and FUS in this defined patient cohort.

FUS

sporadic


Input: This study shows a carrier frequency of 2. 5% of pathogenic mutations in the MC4R gene in a population-based study of obese men.

obese

obese


Input: Allele frequencies of interleukin (IL)-1 cluster genes [IL-1A (-889), IL-1B (-511), IL-1B (+ 3953), IL-1RN Intron 2 VNTR] and tissue necrosis factor (TNF)-alpha gene [TNFA (-308)] were measured in healthy blood donors (healthy control subjects), patients with angiographically normal coronary arteries (patient control subjects), single-vessel coronary disease (SVD), and those with multivessel coronary disease (MVD).

MVD

necrosis


Input: Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22.

Tangier disease

Tangier disease


Input: Gitelman syndrome due to p. A204T mutation in CLCNKB gene.

CLCNKB

Gitelman syndrome

CLCNKB

Gitelman syndrome


Input: We observed that LysM. Rac1 KO mice showed higher vertebral bone mineral density compared to WT in both control and ovariectomized groups.

bone mineral density


Input: Parallel ex vivo experiments showed that either infection with a dominant-negative Akt adenovirus or preincubation of cardiomyocytes with the phosphatidylinositol 3-kinase inhibitors significantly attenuated the protective effects of Hsp20.

adenovirus


Input: MSP results were as follows: loss of XAF1 expression was found in three of four esophageal cell lines with promoter region hypermethylation (completely methylated in KYSE30, KYSE70 and BIC1 cell lines and partially in TE3 cells); all nine cases of normal esophageal mucosa were unmethylated; and 54/72 (75. 00%) samples from patients with esophageal cancer were methylated, and 25/72 (34. 70%) matched adjacent tissues were methylated (75. 00% vs 34. 70%, χ (2) = 23. 5840, P = 0. 000).

MSP

esophageal


Input: This is the first report on LMX1B mutation identified in a patient with NPLRD.

NPLRD

NPLRD


Input: We investigated 40 infants with cyanotic or acyanotic cardiac defects, as well as H9c2 embryonic rat cardiomyocytes, to examine the effect of hypoxia on the expression or activation of SOCS3, STAT3 and NF-κB in vivo and in vitro.

cardiac defects


Input: This unique case confirms S. intermedius pulmonary infection as the source of metastatic CNS infection and reveals the potential of PCR/ESI-MS to detect a streptococcal pathogen not captured by conventional cultures.

ESI

pulmonary infection


Input: The ROD ratio of MAT1 to nm23H1 increased with the development of metastasis.

metastasis


Input: As a consequence, our study has implications for the screening of hemochromatosis patients that have one or two copies of HFE which lack the main mutations.

HFE

hemochromatosis

HFE

hemochromatosis


Input: Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

central core disease

central core disease


Input: Recently, IL-5 mRNA has been identified in eosinophils from patients with celiac disease, eosinophilic heart diseases, and asthma.

heart diseases


Input: Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.

ADC

ADC


Input: So far, only two mutations in the CHRNA4 gene (in three studies) and one mutation in the CHRNB2 gene had been identified in the patients with sporadic nocturnal frontal lobe epilepsy (NFLE).

CHRNB2 gene

sporadic


Input: In the present study, we demonstrate that on the mRNA level hypoxic stimulation of HepG2 cells led to (i) an induction of the positive AP reactants alpha 1-antitrypsin, alpha 1-antichymotrypsin, complement C3, haptoglobin, and alpha 1-acid glycoprotein; (ii) a down-regulation of the negative AP reactant albumin; (iii) an up-regulation of the negative AP reactant transferrin; and (iv) unchanged levels of the positive AP reactants alpha-and beta-fibrinogen as well as hemopexin.

hemopexin

fibrinogen


Input: Case 1 revealed peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40 + 5G > A.

atrophy


Input: The size of the aneuploid fraction (> 60%) in the primary tumour may influence the risk of having both SLN and non-SLN metastases.

SLN

aneuploid


Input: IL-4 deficiency greatly reduced, but did not eliminate, TSLP-induced airway hyperresponsiveness, airway inflammation, eosinophilia, and goblet cell metaplasia, while Stat6 deficiency eliminated these asthma-like symptoms.

TSLP

metaplasia


Input: Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Failure to Thrive

Failure to Thrive


Input: We sequenced the complete MC4R coding region, the region of the proopiomelanocortin gene (POMC) encoding the alpha melanocyte-stimulating hormone, and the leptin-binding domain of LEPR in 469 severely obese white subjects (370 women and 99 men; mean [+/-SE] age, 41. 0 +/-0. 5 years; body-mass index [the weight in kilograms divided by the square of the height in meters], 44. 1 +/-2. 0).

LEPR

weight


Input: Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

Lowe syndrome

Lowe syndrome


Input: The spinal motor neurons lacking transactive response DNA-binding protein 43 were not affected for 1 year, but exhibited atrophy at the age of 100 weeks; whereas, extraocular motor neurons, that are essentially resistant in amyotrophic lateral sclerosis, remained preserved even at the age of 100 weeks.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Under hypoxic conditions, inhibition of HIF-1 alpha gene expression by a specific siRNA resulted in a significant reduction in HIF-1 alpha and VEGF mRNA levels (P < 0. 05).

VEGF

hypoxic


Input: Furthermore, elevated SLP-2 expression is an independent prognostic factor in multivariate analysis using the Cox regression model (p = 0. 005).

regression


Input: We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C.


Input: We have recently shown that although a majority of human neuroblastomas (NBs), a childhood cancer, express high levels of CD44H, high stages and tumors with amplification of the NMYC proto-oncogene fail to express CD44.

childhood cancer


Input: N-myc downstream regulated gene-1 (NDRG1) is a potent metastasis suppressor in many solid tumor types, including prostate and colon cancer.

N-myc

colon cancer


Input: To identify the genes involved in cervical carcinogenesis, we applied the mRNA differential display method and identified a candidate tumor suppressor gene, HCCS-1, which was present in normal cervical tissue but absent in cervical cancer, metastatic lymph node and CUMC-6 cervical cancer cell line.

carcinogenesis


Input: Risk alleles were largely enriched in mucoepidermoid carcinoma, in which the SNPs in CHRNA2, OR4F15, and ZNF343 had ORs of 15. 71 (95% CI, 6. 59-37. 47 [P = 5. 2 × 10 (-10)]), 15. 60 (95% CI, 6. 50-37. 41 [P = 7. 5 × 10 (-10)]), and 6. 49 (95% CI, 3. 36-12. 52 [P = 2. 5 × 10 (-8)]), respectively.

mucoepidermoid carcinoma


Input: Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles.

BSP

focal dystonia


Input: HIF-1α/GPER signaling mediates the expression of VEGF induced by hypoxia in breast cancer associated fibroblasts (CAFs).

VEGF

hypoxia


Input: Fatty acid oxidation and malonyl-CoA decarboxylase in the vascular remodeling of pulmonary hypertension.

malonyl-CoA decarboxylase

pulmonary hypertension


Input: Cell cycle regulatory gene analysis showed increased protein levels of cyclin A, cyclin B, Chk2, Cdk2, and P27 in hepatoma cells after time courses of emodin treatment, and Western blot analysis showed decreased protein levels of Cdc25c and P21.

hepatoma


Input: The aim of this study was to assess the ability of different interleukins (IL), IL-2, IL-12 and IL-21, produced by transduced glioma cells to activate an immune response and trigger intracranial tumor rejection.

glioma


Input: Diagnostic testing and genetic counseling are complicated by the reduced penetrance, which often makes the inheritance appear recessive or sporadic, and by interfamilial differences in the length of a stable (CTA) n tract preceding the CTG repeat.

CTA

sporadic


Input: In vitro analysis of genomic instability triggered by BRCA1 missense mutations.

genomic instability


Input: Our results suggest the alteration of HDAC5 and CREB gene expression in the systemic pathophysiology of major depression.

major depression

major depression


Input: Recombinant IFN-γ administration is licensed for the prophylaxis of infection (bacterial and fungal) in patients with the phagocyte functional deficiency syndrome chronic granulomatous disease, although the benefits appear limited.

IFN

chronic granulomatous disease


Input: Our goal is to describe three unrelated Italian patients affected by HDLS and carrying new CSF1R mutations, thus expanding the mutational spectrum and phenotypic presentation.

HDLS

HDLS


Input: A pericentric inv (9) (p22q34) of the derivative chromosome 9 that resulted from a standard t (9; 22) (q34; q11. 2) was identified by R-banding karyotypic analysis and fluorescence in situ hybridization (FISH) assays in 4 (0. 18%) of 2, 200 Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) in our hospital since 2004.

FISH

leukemia


Input: Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p. Q223R variant being related to BMI increase.

LEPR

body weight


Input: Associations between blood pressure (BP) change after Na (+)-load and 15 SNPs spanning the length of CLCNKA and CLCNKB and six SNPs spanning the length of BSND were studied in 314 never treated essential hypertensives who underwent an i. v.

CLCNKA

blood pressure


Input: Transvaginal amniotic puncture (TAP) was performed on 20 consecutive missed abortions immediately prior to dilatation and evacuation and the cytogenetic results compared.

TAP

dilatation


Input: In older adults factor V Leiden is not a risk factor for future arterial thrombosis.

factor V Leiden

arterial thrombosis


Input: Four hours after preconditioning with Epo intraperitoneally, pilocarpine hydrochloride was administered intraperitoneally and observed for behavioral manifestations of SE.

Epo

SE

Epo

SE


Input: Low-density lipoprotein receptor-related protein1 (LRP1) and alpha-2-macroglobulin (A2M) are candidate genes for sporadic Alzheimer' s disease (SAD).

sporadic


Input: In conclusion, p38 MAPK and JNK pathways play an important role in VEGF secretion from malignant glioma cells under normoxic conditions, possibly contributing to VEGF-induced angiogenesis in malignant gliomas at vital tumor areas where there is no hypoxia.

VEGF

hypoxia


Input: The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from' gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1.

hyperinsulinism-hyperammonemia syndrome

hyperinsulinism-hyperammonemia syndrome


Input: Pyk2 aggravates hypoxia-induced pulmonary hypertension by activating HIF-1α.

hypoxia


Input: Loss-of-function mutations in the FSHB/Fshb gene cause hypogonadotropic hypogonadism in humans and mice.

FSHB

hypogonadotropic hypogonadism

FSHB

hypogonadotropic hypogonadism


Input: A 26-year-old woman with mild DM-EBS with prominent palmoplantar hyperkeratosis and without active blister formation had a novel R125G mutation in keratin 14.

keratin 14

DM

keratin 14

DM


Input: Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene.

BCHE

Butyrylcholinesterase deficiency

BCHE

Butyrylcholinesterase deficiency


Input: In three rare cases of human morbid obesity, the discovery of mutations in the leptin and leptin receptor genes shows that leptin plays a crucial role in the control of weight and several endocrine functions (particularly reproduction).

leptin receptor

weight


Input: To investigate whether mutations in the STK11/LKB1 gene and genes implicated in the colorectal adenoma-carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis.

tumorigenesis


Input: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19.

dilated cardiomyopathy with ataxia syndrome

dilated cardiomyopathy with ataxia syndrome


Input: EMT is characterized by gain of mesenchymal characteristics and invasiveness accompanied by loss of cell polarity, with an increasing number of studies focusing on the direct involvement of androgen-AR signaling axis in EMT, tumor progression, and therapeutic resistance.

EMT

tumor progression


Input: Expression of PAR-1 and PAR-2 was observed in all types of scar.

scar


Input: We report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 (del (1) (p31. 3p32. 2)) with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features.

dysmorphic features


Input: To examine the effects of Gli2 on breast cancer-mediated osteolysis in vivo, athymic nude mice were inoculated with MDA-MB-231 cells stably expressing Gli2 or the empty vector.

osteolysis


Input: Moreover, when endoplasmic reticulum-targeted bcl-2 protein is overexpressed in cells, this protein lost the capability to synergize with hypoxia to induce the proangiogenic HIF-1/VEGF axis as shown by wild-type bcl-2 protein.

VEGF

hypoxia


Input: The study identified presence of novel pathogenic MEN1 mutations in sporadic cases of insulinoma.

insulinoma

insulinoma


Input: In conclusion, impaired PI 3-kinase activity in GLUT1-containing membrane vesicles derived from fibroblasts of VH is associated with a defective docking and/or fusion process of glucose transporters with the plasma membrane and thus might contribute to the molecular defect causing insulin resistance in this patient.

insulin resistance


Input: Association of common variants in NPPA and NPPB with blood pressure does not translate into kidney damage in a general population study.

NPPA

kidney damage


Input: We cloned a novel AML1 partner gene, PRDX4, in an X; 21 translocation in a 74-year-old male patient diagnosed with acute myeloid leukemia-M2.

translocation


Input: Our study aims were to evaluate the associations of NFKB1 rs28362491 polymorphism and interactions of this single-nucleotide polymorphism (SNP) and PPP1R13L and CD3EAP and smoking duration in relation to lung cancer risk in a Chinese population.

smoking


Input: The role of dopamine, dynorphin, and CART systems in the ventral striatum and amygdala in cocaine abuse.

CART

cocaine abuse

CART

cocaine abuse


Input: The gene of the nuclear receptor coactivator AIB1 (amplified in breast cancer 1) is amplified in breast cancer cell lines as well as in breast tumor tissues.

amplified in breast cancer 1

breast tumor


Input: The body mass index (BMI) and the circulating levels of chemerin and other inflammatory, adiposity and insulin resistance markers were assessed in female and male adults of varying degree of obesity.

chemerin

insulin resistance


Input: Forty-five different tumour sites from the 12 RER + carcinomas were analysed for BAX mutations at the [(G) 8] tract in exon 3.

RER

carcinomas


Input: This suggests that, in addition to its role in caries defense, SAG may serve as a potential tumor indicator and/or tumor suppressor in salivary gland tissue.

SAG

caries


Input: In addition, stromelysin-3 mRNA and protein colocalized with CD40L and CD40 within atheroma.

atheroma


Input: The Akt inhibitor, triciribine, ameliorates chronic hypoxia-induced vascular pruning and TGFβ-induced pulmonary fibrosis.

TGFβ

hypoxia


Input: A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA.

BTK

XLA

BTK

XLA


Input: Tretinoin appeared to reverse the abnormal expression profile of MMPs in keloid-derived fibroblasts, such as markedly elevated expression of MMP-13, partly through inactivation of AP-1 pathway.

keloid


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

bipolar disorder

bipolar disorder


Input: Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: EMT also promotes malignant tumor progression and the maintenance of the stem cell property, which endows cancer cells with the capabilities of self-renewal and immortalized proliferation.

EMT

tumor progression


Input: Morphological findings showed an increase of cellularity with positive GFAP and EGFR expression, increase of proliferate index, vascular hyperplasia with glomeruloid structures and necrosis.

GFAP

hyperplasia


Input: Recent studies showed that NQO1 is an important enzyme for stabilizing p53 protein, which is involved in anti-tumorigenesis.

tumorigenesis


Input: We found by RNA interference experiments that HIF-2alpha plays a minor role in VEGF gene upregulation under hypoxia or CoCl (2) treatment, even when both HIFs are similarly bound to the promoter region.

VEGF

hypoxia


Input: Stable transfectants of the LGR7-positive human follicular thyroid carcinoma cell lines FTC-133 and FTC-238 that secrete bioactive proRLN2 revealed this hormone to act as a multifunctional endocrine factor in thyroid carcinoma cells.

follicular thyroid carcinoma


Input: Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.

trichotillomania


Input: The results demonstrated that the treatment of these nude mice with CNP significantly inhibited tumor growth and induced tumor necrosis.

CNP

tumor necrosis


Input: Alsin mutations are responsible for a primitive, retrograde degeneration of the upper motor neurons of the pyramidal tracts, leading to a clinical continuum from infantile (IAHSP) to juvenile forms with (ALS2) or without (JPLS) lower motor-neuron involvement.

retrograde degeneration


Input: The viral load was negatively correlated with Vit D and active Vit D (r =-0. 084 and-0. 846 at P < 0. 001, respectively), and positively correlated with IL-17, IL-23 and PIIINP (r = 0. 951, 0. 922 and 0. 94 at P < 0. 001, respectively).

viral load


Input: We evaluated a cohort of 58 patients treated with TMZ for progression after RT of a previous LGA and investigated the relation between outcome and mutations in the IDH1, IDH2, and TP53 genes, O⁶-methylguanine-methyltransferase (MGMT) promoter methylation, trisomy of chromosome 7, and loss of chromosomes 1p and 19q.

trisomy


Input: VEGF and OPN expression was abrogated upon SF monocytic cell reoxygenation and maintained by exposure to prolonged hypoxia.

VEGF

hypoxia


Input: However, when stained with beta-amyloid precursor protein, multifocal axonal injury was evident in the brain, spinal cord, and nerve roots.

beta-amyloid precursor protein

brain

beta-amyloid precursor protein

brain


Input: Of the eight cases analyzed with fluorescence in situ hybridization (FISH) for MALT1 translocation, two demonstrated MALT1 gene genetic abnormality.

MALT1 gene

translocation


Input: Roscovitine, an inhibitor of CDK5, enhanced Ca2 +-dependent (cadherin-dependent) aggregation of HaCaT cells whereas it inhibited adhesion of HaCaT cells to fibronectin associated with reduced active states of beta1 integrin.

adhesion


Input: Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P < 0. 01.

meningioma


Input: The phenotype caused by human genetic insulin-like growth factor-I (IGF-I) defects is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

IGF-I

postnatal growth retardation


Input: It is of great interest that prostaglandin-endoperoxide synthase 2, tyrosine hydroxylase, Cart, Homer1 and glutamate decarboxylase have already been implicated in affective disorders by different approaches in previous reports.

glutamate decarboxylase

affective disorders

glutamate decarboxylase

affective disorders


Input: The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death, particularly in those with congenital kidney and heart developmental defects.

neonatal death


Input: A patient with Scott syndrome, which results from a defect in phospholipid scrambling activity, was found to carry a mutation at a splice-acceptor site of the gene encoding TMEM16F, causing the premature termination of the protein.

Scott syndrome

Scott syndrome


Input: We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion protein, in the central and peripheral nervous system of a patient with a Glu200Lys mutation of the prion protein gene, cerebellar ataxia, subcortical dementia, rigidity, and demyelinating peripheral neuropathy.

prion protein

subcortical dementia


Input: To elucidate the role of MIF in progression of liver fibrosis, the immunohistochemical localization of MIF and macrophages in the liver were examined.

MIF

liver fibrosis


Input: Site-directed mutagenesis of either the predicted HRE or the bile acid responsive FXR binding site abolished inducibility of the OSTα promoter, indicating that both elements need to be intact for induction by hypoxia and CDCA.

FXR

hypoxia


Input: To investigate the role of PLCB3 in the neuroendocrine tumorigenesis, we transfected a PLCB3 construct to three neuroendocrine tumor cell lines with a low PLCB3 expression.

tumorigenesis


Input: p63 steps into the limelight: crucial roles in the suppression of tumorigenesis and metastasis.

tumorigenesis


Input: SMC3 with retained acetylation is loaded onto chromatin, and chromatin immunoprecipitation sequencing analysis demonstrates decreased occupancy of cohesin localization sites that results in a consistent pattern of altered transcription seen in CdLS cell lines with either NIPBL or HDAC8 mutations.

CdLS

CdLS


Input: Pathphysiologically, an ideal control system for VEGF gene expression is letting it respond to hypoxia.

VEGF

hypoxia


Input: The most common chromosomal abnormalities in CLL, using conventional and molecular cytogenetics, are trisomy 12, del (13) (q14), del (11) (q22-23), del (17) (p13), and del (6) (q21).

trisomy 12


Input: In this analysis, we investigated the relation between common genetic variation in IGF1, IGFBP1, and IGFBP3, and mammographic density among 819 women of Hawaiian, European, and Japanese ancestry from the Multiethnic Cohort Study.

mammographic density


Input: We conclude that MVD, CA-IX, and HIF-1alpha expression are not independent prognostic markers for recurrent endometrial carcinoma.

MVD

recurrent endometrial carcinoma


Input: METHODS: We compared clinicopathologic factors, including age, sex, WBC count, cerebrospinal fluid (CSF) involvement, immunophenotype, and blast proliferation rate between B-ALL with RUNX1 amplification (10 cases) and B-ALL with ETV6-RUNX1 translocation (67 cases) in childhood B-ALL.

translocation


Input: The purpose of this investigation was to determine whether bcl-2 or bax gene expression differs between benign and malignant adrenal tumors, and whether hTERT gene expression correlates with the prognosis of patients with adrenal cancer.

bax gene

adrenal cancer


Input: Immunohistochemical analysis of the N-ras p21 and the p53 proteins was carried out on formalin-fixed sections of naevi, primary melanomas and metastases from patients with sporadic melanoma (SCMM) and with hereditary melanoma (HCMM)/dysplastic naevus syndrome (DNS).

N-ras

dysplastic naevus syndrome


Input: To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod dystrophy and macular dystrophy.

cone-rod dystrophy


Input: Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia.

thyroid hypoplasia

thyroid hypoplasia


Input: Immunohistochemical analysis with antibodies against estrogen receptor alpha, progesterone receptor, androgen receptor, Her2/neu, epidermal growth factor receptor, CK5/6, CK14, CK17, CK8, and CK18 was performed on representative sections of 21 breast carcinomas with bone metastasis and 94 cases without bone metastasis.

bone metastasis


Input: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date.

Leigh syndrome

Leigh syndrome


Input: Our results demonstrate that hypoxia facilitates alternative splicing of EAAT2 in the APP23 model.

hypoxia


Input: A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.

down syndrome

down syndrome


Input: Taken together, overexpression of Sall1 does not affect kidney development, but does lead to a reduced body weight, suggesting that the optimal dosage of Sall1 is required for normal mouse development.

body weight


Input: To evaluate the relationship between the functional-592 A/C polymorphism in the gene encoding IL-10 and the prognosis of AITDs, we genotyped this polymorphism in 57 patients with intractable GD, 43 patients with GD in remission, 63 patients with severe HD, 44 patients with untreated mild HD, and 62 healthy volunteers by the direct sequencing method.

mild


Input: MiRNA-206 and BDNF genes interacted in bipolar I disorder.

bipolar I disorder

bipolar I disorder


Input: Two glioma cell lines, stably expressing mutational (U87/R132H) or wild type (U87/wt) IDH1, were established.

glioma


Input: Using a mouse model of ERBB2-initiated mammary tumorigenesis, we first show that ablation of ERRα significantly delays ERBB2-induced tumor development and lowers the levels of amplicon transcripts.

ERRα

mammary tumorigenesis


Input: A novel leptin receptor variant with a conservative amino acid substitution (I359 V) in body weight selected and unselected mouse lines.

leptin receptor

body weight


Input: We examined the functional abnormality of C6 glioma cells transfected with mutant (C53S and P172R) Cx32 genes.

glioma


Input: Long-term complete haematological and molecular remission after allogeneic bone marrow transplantation in a patient with a stem cell myeloproliferative disorder associated with t (8; 13) (p12; q12).

myeloproliferative disorder


Input: Of particular interest was the observation that the patient' s older sister, who carried the same ATP7B genotype and laboratory evidence for biochemical WD but was clinically asymptomatic, lacked the PRNP variant allele.

WD

WD


Input: Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.

glycine decarboxylase

nonketotic hyperglycinemia

glycine decarboxylase

nonketotic hyperglycinemia


Input: In this study, we report that the TSPYL5 gene was less methylated (30%) in A549 lung adenocarcinoma cells, which are relatively resistant to gamma-radiation, than in H460 lung cancer cells, in which the TSPYL5 gene was hypermethylated (95%); thus, the expression level of TSPYL5 is much higher in A549 cells than in H460 cells.

TSPYL5 gene

lung adenocarcinoma


Input: PhIP may thereby promote tumorigenesis by mutating growth-regulating genes that contain runs of guanines in their coding sequences, such as BAX, the insulin-like growth factor II receptor IGFIIR, and even the mismatch repair gene hMSH6.

insulin-like growth factor II receptor

tumorigenesis


Input: While allelic imbalance at the ATM locus was rarely observed in diploid and aneuploid carcinomas, multiploid carcinomas exhibited a high frequency of ATM allelic imbalance.

ATM

aneuploid


Input: A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family.

alveolar microlithiasis

alveolar microlithiasis


Input: The dominant antigen recognized during natural and experimental infections is an abundant lipoprotein, P35, which, upon extraction, segregates in the Triton X-114 detergent phase.

infections


Input: By contrast, compared to gene induction in response to HRV-16 alone, cells exposed to HRV + CSE showed marked suppression of expression of a number of HRV-induced genes associated with various functions, including antiviral defenses, inflammation, viral signaling and airway remodeling.

CSE

inflammation


Input: Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.

TCIRG1 gene

bone density


Input: The gene for the insulin receptor has been assigned to chromosome 19 near the breakpoint of the translocation t (1; 19) which occurs in 25% of pre-B-cell leukemias.

insulin receptor

translocation


Input: We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.

astrocytoma


Input: Netherton syndrome (NS, MIM 256500) is a potential live threatening autosomal-recessive skin disorder clinically characterized by the trias of congenital erythroderma, hair shaft anomalies and atopic diathesis.

MIM

erythroderma


Input: The measurements of infarcted ventricular wall thickness, infarction area, and left ventricular diameter indicated that heart remodeling was inhibited and heart function was improved in both the MSC (Ang1) and MSC (GFP) groups.

MSC

infarction


Input: One ALPS patient lacked a Fas gene mutation.

Fas

ALPS

Fas

ALPS


Input: Role of poly (ADP-ribose) glycohydrolase (PARG) in shock, ischemia and reperfusion.

PARG

ischemia


Input: In multivariate analysis of all patients and those with advanced disease, serum trypsin-2-API concentration was an adverse prognostic factor for cancer-specific and progression-free survival, and it was independent of stage and histological type of the tumor (P < or = 0. 01).

API

cancer


Input: We examined the diagnostic accuracy of the cumulative smoking dose for identifying the epidermal growth factor receptor (EGFR) exon 19 deletion and L858R mutation among Japanese patients with non-small-cell lung cancer (NSCLC).

EGFR

smoking


Input: Moreover, we identified that miR-203 may suppress the tumorigenesis at least in part through negatively regulating its target gene ABL1.

tumorigenesis

tumorigenesis


Input: Rs35767on IGF1 (p = 0. 03) was also associated with mammographic density, although in opposite direction of what was expected from previous findings with IGF-I levels.

IGF-I

mammographic density


Input: Hyper-IgE syndrome is characterized by elevated serum IgE, dermatitis and recurrent infections, including CMC due to impaired generation of IL-17-producing Th17 cells.

recurrent infections


Input: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycosylphosphatidylinositol (GPI)-deficient cells that leads to complement-mediated hemolysis.

GPI

hemolysis


Input: Utilizing tissue microarrays composed of normal esophageal squamous mucosa (n = 20), Barrett esophagus (n = 10), low-grade dysplasia (n = 14), high-grade dysplasia (n = 27), adenocarcinoma (n = 59), and node metastases (n = 27), we confirmed differential up-regulation of three proteins (Cdc2/Cdk1, Cdc5, and Igfbp3) in adenocarcinomas and Barrett lesions.

esophageal


Input: Here, we show that ASC is highly expressed in a model of medulloblastoma, the most common malignant pediatric brain cancer; ASC is also expressed in human medulloblastomas.

ASC

medulloblastoma


Input: However, one MCF10A clone, which was severely depleted of Plk1, although viable, showed sporadic G2/M arrest and apoptosis.

sporadic


Input: Heterogeneous expression and function of IL-21R and susceptibility to IL-21-mediated apoptosis in follicular lymphoma cells.

follicular lymphoma


Input: The role of calcitonin gene-related peptide (CGRP) in the generation and maintenance of mechanical allodynia and hyperalgesia in rats after intradermal injection of capsaicin.

calcitonin

mechanical allodynia

calcitonin

mechanical allodynia


Input: Because our recent studies showed that inhibition of proteasomal function may be independently active as an apoptosis-inducing stimulus in these tumors, we investigated the sensitivity of a panel of glioma cell lines (U87, T98G, U373, A172, LN18, LN229, LNZ308, and LNZ428) to TRAIL alone and in combination with the proteasome inhibitor bortezomib.

glioma


Input: Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.

MMD

MMD


Input: SOX7 mRNA was relatively highly expressed in a gastric cancer cell line MKN45, esophageal cancer cell lines TE2, TE3, TE4, TE5, TE7, TE8, TE11, TE12, and TE13.

esophageal cancer


Input: Mice with deleted CXCL10 gene are partially protected against experimental cerebral malaria (ECM) mortality indicating the importance of CXCL10 in the pathogenesis of CM.

ECM

cerebral malaria


Input: The prolactin receptor is expressed in macrophages within human carotid atherosclerotic plaques: a role for prolactin in atherogenesis?

prolactin receptor

atherogenesis


Input: Similar to the IGH-associated translocations in follicular and mantle cell lymphomas, the IGH-MALT1 junctions in MALT lymphoma showed all features of a recombination signal sequence-guided V (D) J-mediated translocation at the IGH locus.

translocation


Input: The aim of this study was to evaluate the role of polymorphism A2 (PLA2) in platelet glycoprotein IIb/IIIa (GP IIb/IIIa) in the development of recurrent spontaneous abortion (RSA)--miscarriages before 20th week of gestation (wg) of pregnancy.

recurrent spontaneous abortion


Input: The major findings regarding the genetics of stress response and stress-related disorders are: (i) variations in genes involved in the sympathetic system or in the hypothalamic-pituitary-adrenocortical axis are associated with altered stress responses; (ii) genes related to the renin-angiotensin-aldosterone system or inflammation/immune response show associations with cardiovascular disorders; (iii) genes involved in monoaminergic neurotransmitter systems are associated with bipolar disorder and unipolar depression.

renin

unipolar depression

renin

unipolar depression


Input: As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations.

AD

AD


Input: Our results suggest that the biosynthetic pathways of the monoamine neurotransmitters that are mediated by TH and GCH might be associated with the CFS clinical findings, because persistence is one of the typical personality traits observed in CFS and patients with major depressive disorder exhibit a higher harm avoidance score.

TH

major depressive disorder

TH

major depressive disorder


Input: SEMA3A is therefore a new gene whose loss-of-function is involved in KS.

KS

KS


Input: DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a " paradoxical " duodenal iron deficiency in hereditary hemochromatosis.

DMT

hereditary hemochromatosis


Input: We used quantitative real-time PCR to determine the level of HOTAIR in ESCC cell lines and 100 ESCC samples from patients; 56 adjacent non-neoplastic tissues were used as controls.

HOTAIR

non-neoplastic


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

starvation


Input: GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer.

colorectal cancer

colorectal cancer


Input: Keratinocyte-specific deletion within the mouse SRF locus during embryonic development caused edema and skin blistering, and all animals died in utero.

SRF

edema


Input: The results suggest that the decrease in E-cadherin plays a role in the formation of steroid-induced cataract.

E-cadherin

induced cataract


Input: Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy-chain locus (IGH) and the MALT1 gene were rearranged by this translocation.

MALT1 gene

translocation


Input: The inhibition of nuclear-cytoplasmic translocation increases the protein stability of p27 (kip1) and p27 (kip1) with a deletion of the Jab1-binding region (p27-jab-d) is not translocated and not degraded.

translocation


Input: Ornithine decarboxylase (ODC), the first enzyme in polyamine synthesis, is a transcriptional target of c-myc and a modifier of APC-dependent tumorigenesis.

ODC

tumorigenesis


Input: PAMP is particularly suited to cancer genomes where the precise breakpoints of alterations such as deletions or translocations vary between patients.

PAMP

cancer


Input: The DIO2 T92A polymorphism modulates deiodinase activity and has been inconsistently associated with insulin resistance.

insulin resistance


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

Bladder Cancer

Bladder Cancer


Input: There was also a significant increase for these variables in non-proband TS relatives versus non-TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls.

Gts

depression

Gts

depression


Input: In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein.

ATM

B-CLL

ATM

B-CLL


Input: Patients with advanced fibrosis had higher CX3CL1 levels than those with mild or no fibrosis (p = 0. 010); and patients with severe activity grade had higher CX3CL1 levels than those with low activity grade (p = 0. 040).

mild


Input: Histological examination revealed a demyelinating neuropathy and axon degeneration, and molecular analysis of signaling pathways showed reduced protein kinase B (PKB, AKT) activation in the nerves of Epigen-tg mice, indicating that the muscular phenotype is secondary to PNS demyelination and axon degeneration.

Epigen

demyelination


Input: Our study suggests that MRPL4 and BCAP, key components of the HIF-1α and PI3K/Akt signaling pathways respectively, are two novel candidate genes for atopy and allergic rhinitis.

atopy


Input: Glucocorticoid receptor-9beta polymorphism is associated with systolic blood pressure and heart growth during early childhood. The Generation R Study.

Glucocorticoid receptor

systolic blood pressure


Input: However, the expression of NUDEL, FEZ1 and LIS1 was each significantly reduced in the brain tissue from patients with schizophrenia and expression of each showed association with high-risk DISC1 polymorphisms.

schizophrenia

schizophrenia


Input: Lung histology and biochemical studies of the index patient (hSP-C (E66K)) revealed nonspecific interstitial pneumonia, increased alveolar total phospholipid lacking phosphatidylglycerol, and increased surfactant protein A. Localization of proSP-C from lung sections prepared from this patient using immunofluorescence and immunogold electron microscopy revealed abnormal proSP-C staining in endosomal-like vesicles of type II cells distinct from SP-B.

SP-B

nonspecific interstitial pneumonia


Input: Aldosterone synthase (CYP11B2) C-344T polymorphism may influence the severity of systemic inflammation.

inflammation


Input: To explore a new strategy for effective and economical anti-virus therapy for HBV infection, we conducted a sequence administration of lamivudine and interferon alpha 1b to evaluate its effects on HBV replication and rebound as well as YMDD mutation induced by lamivudine.

interferon alpha 1b

HBV

interferon alpha 1b

HBV


Input: The elder developed uncomplicated PXE in adolescence and harbored mutations in the ABCC6 gene.

PXE

PXE


Input: According to their urinary albumin-to-creatinine ratio (uACR), 107 patients with type 2 diabetes (eGFR > 60 ml/min) were divided into normal albuminuria group (DN0 group, 38 cases), microalbuminuria group (DN1 group, 38 cases), and macroalbuminuria group (DN2 group, 31 cases), compared with matched healthy normal control group (NC group, 30 cases).

albuminuria


Input: Polymorphisms in the DRD2 gene and, among females, the MAOA gene interacted with retrospective reports of ADHD symptoms in contributing to risk for smoking.

DRD2 gene

smoking


Input: Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer' s disease and major depression.

LSF

major depression

LSF

major depression


Input: Therefore, we examined the association of IGF1 polymorphisms with circulating IGF-I levels and mammographic density.

IGF-I

mammographic density


Input: The role that hyperhomocysteinemia (HH) and the C677T mutation in 5, 10-methylenetetrahydrofolate reductase (MTHFR) play in splanchnic vein thrombosis (SVT) remains unclear due to this unusual thrombotic location.

MTHFR

splanchnic vein thrombosis


Input: These results imply that a second' hit' in the APC gene, but not necessarily mutation in K-ras or p53, is an important and critical event for formation of a colorectal adenoma.

APC gene

hit


Input: Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.

Dubin-Johnson syndrome

Dubin-Johnson syndrome


Input: The aim of the current study was to determine the contribution of ERAP1 polymorphisms to ankylosing spondylitis (AS) susceptibility.

spondylitis


Input: The case of a patient presenting with a myeloproliferative disorder (MPD) characterized by a t (8; 22) (p12; q11) translocation was investigated.

myeloproliferative disorder


Input: The tumor suppressor kinase LKB1 is mutated in a broad range of cancers however, the role of LKB1 mammary gland tumorigenesis is not fully understood.

tumorigenesis


Input: As a result of t (14; 18) translocation, hybrid bcl-2/immunoglobulin heavy chain transcripts are produced that consist of the 5' half of the bcl-2 mRNA fused to a " decapitated " immunoglobulin heavy chain mRNA.

translocation


Input: Pemphigus foliaceus is an autoimmune blistering skin disease characterized by intraepidermal blisters and circulating autoantibodies directed against desmoglein 1, a 160 kDa transmembrane desmosomal molecule expressed in keratinocytes.

desmoglein 1

blisters


Input: We prospectively studied 55 patients (45 males, 10 females, age 48 +/-7 years) with NYHA Class II/III HF due either to dilated cardiomyopathy (CMP) (n = 33) or ischemic heart disease (IHD) (n = 22).

CMP

dilated cardiomyopathy


Input: To evaluate whether morphological subsets of ependymomas are characterized by specific genetic lesions, we analyzed a series of 62 ependymal tumors, including myxopapillary ependymomas, subependymomas, ependymomas, and anaplastic ependymomas, for allelic losses on chromosome arms 10q and 22q and mutations in the PTEN and NF2 genes.

PTEN

ependymal tumors


Input: In conclusion, NOTCH1 gene mutations do not only play a role in familiar BAV, but can also be observed in approximately 4% of sporadic cases.

NOTCH1 gene

sporadic


Input: p27 has been implicated in pituitary tumorigenesis in studies of knockout mice and in analyses of human pituitary tumor samples.

tumorigenesis


Input: The talpid (3) chicken mutant has a pleiotropic phenotype including polydactyly and craniofacial abnormalities.

talpid (3

craniofacial abnormalities

talpid (3

craniofacial abnormalities


Input: Up-regulation of hypoxia-inducible genes VEGFA, FLT1, VEGFC, HMOX1, and TIE2 was significant in donor airways relative to native airways (all P < 0. 05).

VEGFA

hypoxia


Input: Finally, we found that short hairpin RNA (shRNA)-based knockdown of several genes amplified in dedifferentiated liposarcoma, including CDK4 and YEATS4, decreased cell proliferation.

dedifferentiated liposarcoma

dedifferentiated liposarcoma


Input: The AML1 and ETO genes are disrupted by the nonrandom chromosomal translocation t (8; 21) in acute myelogenous leukemia (AML).

chromosomal translocation


Input: VEGF expression appears to be highly susceptible to hypoxia or exogenous cytokines and growth factors.

VEGF

hypoxia


Input: This study was conducted to examine the CHST6 gene in Vietnamese with MCD.

MCD

MCD


Input: Beside its transport activities, TTR is a cryptic protease and participates in the biology of the nervous system.

TTR

nervous system


Input: For example, IFN gamma, but not IFN alpha, caused a significant reduction in epidermal growth factor receptor expression as well as an increase in the adhesion molecules intercellular adhesion molecule-1 and integrin alpha3.

epidermal growth factor receptor

adhesion


Input: Women in our cohort had an increased risk of death from extracranial haemorrhage (5 observed deaths, 0. 18 expected; SMR 27. 78 [8. 49-58. 18]); however, the number of deaths from this cause was much lower than that for ischaemic heart disease.

SMR

ischaemic heart disease


Input: In addition, the VEGF protein, which was produced from the Epo-SV-VEGF-transfected and hypoxia-incubated cells, was able to enhance the proliferation of the endothelial cells.

VEGF

hypoxia


Input: As expected, the therapeutical effect of PSD was transient and most patients experienced an exacerbation of depressive symptoms on day 2.

PSD

depressive symptoms


Input: The monocyte chemoattractant protein-1 (MCP-1)-A2518G gene polymorphism has been found to be involved in the susceptibility to inflammatory bowel disease (IBD); however, the results of existing studies are controversial.

bowel disease


Input: Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.

nasolacrimal duct obstruction

nasolacrimal duct obstruction


Input: Specifically, single nucleotide polymorphisms (SNPs) in two genes critical for T-cell function are associated with susceptibility to MDD: PSMB4 (proteasome beta4 subunit), important for antigen processing, and TBX21 (T bet), critical for differentiation.

MDD

MDD


Input: The molecular characterization of the LPL gene in these three patients with partial LPL deficiency revealed four novel unpublished mutations.

LPL

LPL deficiency

LPL

LPL deficiency


Input: These results demonstrate a profibrotic role of IL-9 in an airway remodeling model, possibly involving eosinophils and CTGF.

CTGF

airway remodeling


Input: To examine if the gene encoding C-reactive protein (CRP), a biomarker of inflammation, confers risk for neovascular age-related macular degeneration (AMD) in the presence of other modifiers of inflammation, including body mass index (BMI), diabetes, smoking, and complement factor H (CFH) Y402 genotype.

CFH

inflammation


Input: Screening for structural balanced chromosomal aberrations in 58 patients with ovarian carcinoma found a patient with inv (9) (p11; q13) who had repeated spontaneous abortions.

chromosomal aberrations


Input: Loss of Glis2 function leads to renal atrophy and fibrosis that involves epithelial-mesenchymal transition (EMT) of renal tubule epithelial cells.

EMT

renal atrophy


Input: We compare time-lapse maps of AD, MCI, and other dementias, correlate these changes with cognition, and relate them to similar time-lapse maps of childhood development, schizophrenia, and HIV-associated brain degeneration.

MCI

schizophrenia


Input: Comparison of platelet-activating factor receptor mRNA levels in peripheral blood eosinophils from normal subjects and atopic asthmatic patients.

platelet-activating factor receptor

atopic


Input: Truncating and missense mutations of the FLNA gene have been identified in almost 100% of families and 26% of sporadic patients with PH.

FLNA gene

sporadic


Input: Impaired regulatory function in circulating CD4 (+) CD25 (high) CD127 (low/-) T cells in patients with myasthenia gravis.

myasthenia gravis


Input: Using data from the Dallas Heart Study, we assessed the association between perceived r/e discrimination and traditional CVD risk factors, C-reactive protein (CRP), aortic plaque area and wall thickness, and coronary calcium (CAC) score among black, white, and Hispanic participants.

CAC

plaque


Input: We found that induction of PDGFβ and bFGF mRNAs by hypoxia was greater in CD349-negative cells than in CD349-positive cells while the expression of VEGF was not significantly different in CD349-negative and CD349-positive cells.

VEGF

hypoxia


Input: Furthermore, the IFNA10 and IFNA4 mutants resulted in an impairment of the suppression of HCV RNA replication in HuH7 cells, and the administration of the recombinant IFN subtypes restored DSS-induced colonic inflammation through the upregulation of CD4 (+) Treg cells.

inflammation


Input: Mice injected with adenovirus expressed PON1 at 600-3480 U ml (-1) on day 5 post-treatment, which is 8-50-fold above endogenous.

adenovirus


Input: Moreover, the mode of cell death (apoptosis vs. necrosis) as well as the correlation between NBDHEX susceptibility and GST activity or Bcl-2 expression was investigated.

GST

necrosis


Input: The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels.

parathyroid hormone

cherubism