Input: Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.

Weaver syndrome

Weaver syndrome


Input: The aim of this study was to investigate the distribution of angiotensin converting enzyme (ACE), angiotensinogen (AGT) and angiotensin receptor type 1 (ATR1) genetic polymorphisms in children affected by chronic renal failure due to renal hypodysplasia associated with posterior urethral valves or without urethral abnormalities.

abnormalities


Input: Our data suggest that adenovirus expressing a FKHRL1 triple mutant could be a useful vector for gene therapy of cancers resistant to chemotherapy and radiotherapy induced by hyperactivity of PI3K/Akt.

adenovirus


Input: MeCP2 deficiency disrupts axonal guidance, fasciculation, and targeting by altering Semaphorin 3F function.

fasciculation


Input: In this study we demonstrate that, surprisingly, animals lacking enkephalin (preproenkephalin, Penk1 (-/-)) showed no depression-related phenotype in the Porsolt forced swimming or tail suspension tests.

preproenkephalin

depression

preproenkephalin

depression


Input: Although the spatial and temporal evolution of central autonomic pathology in MSA is unknown our findings corroborate the utility of the (PLP)-alpha SYN transgenic mouse model as a testbed for the study of oligodendroglial alpha SYN mediated neurodegeneration replicating both motor and non-motor aspects of MSA.

PLP

neurodegeneration


Input: Multiple lymphomatous polyposis (MLP), characterized by multiple polyps involving long segments of the gastrointestinal (GI) tract, is believed to represent GI involvement by mantle cell lymphoma (MCL), primarily based on its histologic and immunophenotypic similarities with MCL.

MLP

multiple polyps


Input: We screened 26 sporadic SBH females and 11 LIS/SBH families for DCX mutations by direct sequencing.

DCX

sporadic


Input: In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.

geleophysic dysplasia

geleophysic dysplasia


Input: The upregulation of several of these genes, IFITM1, IFITM2, IFITM3, APOL1 (Apolipoprotein L1), ADORA2A (adenosine receptor 2A), IGFBP4 and CD163 were validated in the schizophrenia subjects using data from the SNCID database and with quantitative RT-PCR.

schizophrenia


Input: This enabled us to dissect the molecular functions of intracellular and extracellular LOXL2s and examine their contributions to breast cancer metastasis/invasion.

breast cancer

breast cancer


Input: Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

waardenburg syndrome type I

waardenburg syndrome type I


Input: In benign soft-tissue tumors, 1 chemodectoma and 1 neurothekeoma showed low MRP expression; however, no case showed co-expression of MRP and MDR1.

MRP

chemodectoma


Input: These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.

CRF-BP

depression

CRF-BP

depression


Input: Both gain-and loss-of-function studies revealed that miR-29 could sensitize HCC cells to apoptosis that was triggered by either serum starvation and hypoxia or chemotherapeutic drugs, which mimicked the tumor growth environment in vivo and the clinical treatment.

HCC

starvation


Input: In 16 sarcoidosis, 7 idiopathic pulmonary fibrosis (IPF) and 8 hypersensitivity pneumonitis (HP) patients we evaluated IL-1 alpha,-1R,-1RA,-2,-4,-4R alpha,-6,-10,-12, IFN-gamma, TGF-beta1 and TNF-alpha gene polymorphisms in peripheral blood, and MCP-1, MIP-1 alpha, MIP-1 beta, RANTES, ENA-78, FGF, G-CSF, GM-CSF, IFN-gamma, IL-1 alpha, IL-1RA, IL-1 beta,-2,-4,-5,-6,-8,-10,-17, TNF-alpha, Tpo and VEGF values in BALF.

alpha gene

hypersensitivity pneumonitis


Input: This is the first case of ameloblastic carcinoma with a mutation of the p53 gene that has been associated with carcinomatous transformation.

p53 gene

ameloblastic carcinoma


Input: The translocation results in the fusion of two known genes, ETV6/TEL (12p13) and AML1 (21q22), both of which have been shown to be involved in other hematological malignancies.

translocation


Input: The expression of C-JUN and C-FOS was higher in keloid fibroblasts treated with 370 microM genistein and lower in keloid fibroblasts treated with 37 microM genistein.

C-FOS

keloid


Input: In all subjects testosterone, dehydroepiandrosterone sulfate (DHEAS), sex hormone binding globulin (SHBG), cortisol (basal and after dexamethasone), concentrations of GR protein, phospo-GR211 protein, number of GR per cell (B (max) and its equilibrium dissociation constant (K (D)) were measured.

SHBG

dissociation


Input: Using reverse transcription and the polymerase chain reaction (RT-PCR), we determined the level of expression of BCL-2/IgH in 18 follicular center cell lymphomas containing a t (14; 18) translocation involving the major breakpoint region and five non-neoplastic lymph nodes.

translocation


Input: One hundred and seventy-two cases of adipocytic tumors, comprising 98 cases of lipoma and 74 cases of liposarcoma, were analyzed for the possible expression of HMGA2-LPP, LPP-HMGA2, TLS-CHOP and EWS-CHOP fusion genes, using a reverse-transcription polymerase chain reaction method.

EWS

lipoma


Input: Ultrasound-targeted microbubble destruction delivery of the VEGF gene resulted in decreased infarct areas, increased vessel density, and reduced apoptosis versus controls.

VEGF

infarct


Input: Regarding the combination of the Apo epsilon4 allele and allele 1 of the alpha-SYN promoter polymorphism, a highly significant difference between the group of PD patients and control individuals has been found, suggesting interactions or combined actions of these proteins in the pathogenesis of sporadic PD.

SYN

sporadic


Input: The coffee diterpene kahweol sensitizes TRAIL-induced apoptosis in renal carcinoma Caki cells through down-regulation of Bcl-2 and c-FLIP.

TRAIL

renal carcinoma

TRAIL

renal carcinoma


Input: In defined ethnic groups, this NOS3 may offer predictive information regarding the subsequent development of preeclampsia and its clinical course.

preeclampsia


Input: High-throughput immunohistochemical profiling of primary brain tumors and non-neoplastic systemic organs with a specific antibody against the mutant isocitrate dehydrogenase 1 R132H protein.

isocitrate dehydrogenase 1

non-neoplastic


Input: However, it is not clear how OS is involved in the regulation of SAC and contributes to carcinogenesis associated with aneuploidy.

SAC

aneuploidy


Input: Dual PI3K/MAPK pathway activation and compensatory signaling in both rhabdomyosarcoma subtypes predict a lack of clinical efficacy for single agents targeting either pathway, supporting a therapeutic strategy combining a TORC1/2 with a MEK inhibitor.

rhabdomyosarcoma


Input: The present study reports the development of I-45-BTZ-R, a bortezomib-resistant cell line, from the bortezomib-sensitive mesothelioma cell line I-45.

BTZ

mesothelioma


Input: The MUT cells showed hypersensitivity to PI3K inhibition.

hypersensitivity


Input: We evaluated the association of 30 SNPs spanning SORL1 with MRI measures of general cerebral atrophy, hippocampal atrophy, white matter hyperintensities, and overall cerebrovascular disease in 44 African American and 182 white sibships from the MIRAGE Study.

MRI

cerebrovascular disease


Input: Moreover, IL-17A-induced expression of MMP2 and MMP9 under hypoxia was accompanied by increased activation of nuclear factor-κB (NF-κB)/hypoxia-inducible factor-1α (HIF-1α).

hypoxia


Input: On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p < 0. 05).

ACE gene

waist circumference


Input: The cytochrome mono-oxygenase, CYP2D6, is the autoantigen associated with type 2 autoimmune hepatitis, and it shares homologies with multiple viruses that might promote self-intolerance by molecular mimicry.

mono


Input: Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway.

VCP

IBMPFD

VCP

IBMPFD


Input: The codon 232 variant PrP (methionine to arginine) was documented in the CJD patients with typical clinical and pathological findings.

PrP

CJD

PrP

CJD


Input: These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways.

NR0B1 gene

sarcoma


Input: By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia (all signs resembling a Prader-Willi-like phenotype), moderate-to-severe ID, and consistent brain abnormalities.

abnormalities


Input: Two of the most frequent early events in meningioma tumorigenesis involve loss of expression of the neurofibromatosis 2 (NF2) and 4. 1B genes.

4. 1B

tumorigenesis


Input: Socioeconomic variables, dog behavior and the knowledge of the owner regarding the vector were factors associated with canine visceral leishmaniasis (CVL).

CVL

visceral leishmaniasis


Input: Multivariate logistic analysis showed that diabetes was significantly associated with age (odds ratio: 1. 26), overweight (1. 86), high triglycerides (1. 96), family history of hypertension (1. 86), heart rate (1. 05) and high C-reactive protein (3. 59), and IFG significantly associated with age (odds ratio: 1. 11), low high-density lipoprotein-cholesterol (1. 80), family history of hypertension (1. 60), heart rate (1. 03) and high C-reactive protein (2. 73).

C-reactive protein

heart rate


Input: To compare expression of endometrial estrogen (ER) and progesterone (PR) receptors, beta (3)-integrin subunit, leukemia inhibitory factor (LIF), interleukin-6 (IL-6), and pinopodes in Indian women using ormeloxifene as a contraceptive with fertile and infertile subjects during the window of implantation.

infertile


Input: Comparative assessment of matrix metalloproteinase (MMP)-2 and MMP-9, and their inhibitors, tissue inhibitors of metalloproteinase (TIMP)-1 and TIMP-2 in preeclampsia and gestational hypertension.

TIMP

preeclampsia


Input: In contrast, no data are available on CXCL13 expression on FDC sarcoma (FDC-S) cells.

sarcoma


Input: Using hepatoma cells with a dihydrofolate reductase (DHFR) gene amplification and cells transfected with an inducible DHFR transgene, we observed a negative relationship between DHFR expression and resistance to GA.

DHFR

hepatoma


Input: CXCL4L1/PF-4var, but not CXCL4/PF-4, was coinduced with the angiogenic chemokine CXCL6/granulocyte chemotactic protein-2 (GCP-2) by cytokines, e. g., IL-1beta and IL-17, in sarcoma cells, but not in diploid fibroblasts.

sarcoma


Input: Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

hirschsprung disease

hirschsprung disease


Input: A498 RCC cells down-regulated COX-2 and up-regulated VEGF under conditions of hypoxia.

VEGF

hypoxia


Input: An ODD-mediated VEGF expression system that facilitates VEGF-production under hypoxia may be useful in the treatment of ischemic heart disease.

VEGF

hypoxia


Input: Interspecies variation was noted in the sequence and in the expression of the splice variant of the heparanase gene in blind mole rats living under different ecogeographical stresses, indicating a possible role in adaptation to stress in Spalax evolution.

heparanase gene

blind


Input: These findings describe a novel and important function of RPN2-mediated CD63 glycosylation, which regulates MDR1 localization and cancer malignancy, including drug resistance and invasion.

malignancy


Input: A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described.

RCS

developmental delay


Input: Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

cap myopathy

cap myopathy


Input: A notable surprise was that the numerous copy number (CN) changes observed in samples of Asian, non-smoking EGFR mutant NSCLC were nearly the same as those CN alterations seen in a large collection of NSCLC from The Cancer Genome Atlas which is presumably composed of predominantly Caucasians who often smoked.

EGFR

smoking


Input: Long-term phosphate supplementation as the sole therapy resulted in reversal of all clinical and biochemical abnormalities except the decreased TmP/GFR.

GFR

abnormalities


Input: Finally, the three carcinoid tumors tested expressed very high levels of 7B2 mRNA.

carcinoid tumors


Input: In a population-based case-control study including 248 cases and 647 controls, the association of laryngeal cancer with 14 single nucleotide polymorphisms (SNPs) in 8 NER genes (XPC, XPA, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6 and RAD23B) was analyzed with respect to smoking and alcohol exposure.

NER

smoking


Input: These results indicate that indomethacin might suppress intestinal tumor formation together with a hyperlipidemic state by regulating LPL and other lipid metabolic factors.

LPL

intestinal tumor


Input: Abnormal neuronal inclusions composed of the transactivation response DNA-binding protein 43 (TDP-43) are characteristic neuropathologic lesions in sporadic and familial forms of amyotrophic lateral sclerosis (ALS).

DNA-binding protein

amyotrophic lateral sclerosis


Input: To determine the effect of pyrrolidine dithiocarbamate (PDTC), a nuclear factor (NF)-kappaB inhibitor, on chemokine and chemokine receptor expression and thus elucidate the role of NF-kappaB in the pathogenesis of experimental autoimmune anterior uveitis (EAAU).

NF-kappaB

anterior uveitis


Input: These results imply that TNFRSF6, in interaction with APOE4, is a genetic risk factor for sporadic EOAD.

sporadic


Input: ERAP1 polymorphism involving residues 528 and 575/725 is associated with ankylosing spondylitis among HLA-B27-positive individuals.

spondylitis


Input: They also frequently overexpress epidermal growth factor receptor (EGFR) and contain regions of hypoxia, both conditions that can induce VEGF.

VEGF

hypoxia


Input: Disappearance of TAR-DNA-binding protein 43 kDa (TDP-43) from the nucleus contributes to the pathogenesis of amyotrophic lateral sclerosis (ALS), but the nuclear function of TDP-43 is not yet fully understood.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Increased interleukin-10 but unchanged insulin sensitivity after 4 weeks of (1, 3) (1, 6)-beta-glycan consumption in overweight humans.

beta-glycan

insulin sensitivity


Input: However, mean values of hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) were significantly higher in C282Y/C282Y probands (n = 60) than in wild-type control subjects (n = 65).

MCH

mean corpuscular volume


Input: XB130 translocation to microfilamentous structures mediates NNK-induced migration of human bronchial epithelial cells.

translocation


Input: We hypothesized that it may be possible to detect the recurring MSH2 and MSH6 mutations in Jewish individuals with familial and sporadic gastric and pancreatic cancer.

sporadic


Input: On the other hand, both IDO expression on DC and monocytes after IFN-gamma treatment or CTLA-4 treatment were decreased in spontaneous abortion cases.

IDO

spontaneous abortion


Input: We examined host cell reactivation (HCR) of beta-gal expression for the UVC-treated reporter construct in normal fibroblasts and in xeroderma pigmentosum (XP) and Cockayne syndrome (CS) fibroblasts deficient in GGR, TCR, or both.

HCR

xeroderma pigmentosum


Input: We also performed molecular characterisation, including DNA fingerprinting analysis and abnormalities of K-ras, p15, p16, p53, hMLH1, hMSH2, DPC4, beta-catenin, E-cadherin, hOGG1, STK11, and TGF-betaRII genes by PCR-SSCP and sequencing analysis.

E-cadherin

abnormalities


Input: CerS2 haploinsufficiency inhibits β-oxidation and confers susceptibility to diet-induced steatohepatitis and insulin resistance.

insulin resistance


Input: Two cases with BCL2 translocation also showed BCL2 expression.

translocation


Input: We show for the first time that SmgGDS promotes proliferation of pancreatic cancer cells, and we demonstrate that SmgGDS-558 plays a greater role than SmgGDS-607 in cell cycle progression as well as promoting cyclin D1 and suppressing p27 expression in multiple types of cancer.

SmgGDS

pancreatic cancer


Input: We have localized the CYP27 gene to the q33-qter interval of human chromosome 2, and to mouse chromosome 1, in agreement with the autosomal recessive inheritance pattern of CTX.

CTX

CTX


Input: We further showed that a proinvasive effect of IL-17A on FLSs under hypoxia might be through upregulation of matrix metalloproteinase 2 (MMP2) and MMP9.

hypoxia


Input: We conclude that GLI1 inactivation is associated with a phenotypic spectrum extending from isolated postaxial polydactyly to an EvC-like condition.

EvC

EvC


Input: Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.

Wilson disease

Wilson disease


Input: Up-regulating miR-375 or down-regulating ATG7 inhibited mitochondrial autophagy of HCC cells, reduced the elimination of damaged mitochondria under hypoxia, increased release of mitochondrial apoptotic proteins, and reduced viability of HCC cells.

hypoxia


Input: We observed four ITGB3-SNPs associated with AAO in SCZ in a non-Genetic Association Information Network (GAIN) sample (p & lt; 10 (-3)).

SCZ

SCZ


Input: Although we were unable to identify a mutation in the protein-coding region of Mlh3 in the susceptible mouse strain, colon tumours from congenic Ccs1 mice exhibit microsatellite instability.

microsatellite instability


Input: The prevalence of Danon disease was seen in 6% (3 of 50) of unselected concentric LVH patients who underwent EMB, or 8% (3 of 36) after excluding cardiac amyloidosis through EMB.

EMB

cardiac amyloidosis


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

MOP

depression

MOP

depression


Input: The TLX1 oncogene (encoding the transcription factor T cell leukemia homeobox protein-1) has a major role in the pathogenesis of T cell acute lymphoblastic leukemia (T-ALL).

transcription factor T

acute lymphoblastic leukemia


Input: To determine whether this gene is involved in the development of psychosis, we performed a genetic association study of human netrin G1 gene in schizophrenia.

netrin G1 gene

psychosis


Input: Primary culture of cells from hyperfunctioning thyroid adenoma and its surrounding thyroid tissue revealed that cAMP production was constitutively activated while intracellular Ca2 + concentration was suppressed both at the basal level and in the response to TSH stimulation in the cells from tumor tissue compared with those from non-tumor tissue.

adenoma


Input: To explore the potential role of natural-resistance-associated macrophage protein 1 (NRAMP1) gene, vitamin D receptor (VDR) gene, (human leukocyte antigen, (HLA-DRB1) HLA)-DRB1 gene, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis (TB) in the Chinese Kazakh population.

HLA-DQB1 gene

susceptibility to tuberculosis


Input: These data indicated that, although the reduced INSIG1 expression in cancers was associated with the methylation at the edge of the CGI in the promoter region, the methylation was likely to be a secondary change.

secondary


Input: We report reductions in somatostatin and vasoactive intestinal peptide mRNAs in prefrontal and orbitofrontal cortices in bipolar disorder (n = 31) and schizophrenia (n = 35) compared to controls (n = 34) and increased calbindin mRNA in schizophrenia.

vasoactive intestinal peptide

bipolar disorder

vasoactive intestinal peptide

bipolar disorder


Input: The aim of this study was to investigate the relationship between VDR gene polymorphisms and idiopathic hypocitraturia in a Chinese population.

VDR gene

hypocitraturia


Input: However, all 20 cases lacked the t (15; 17) and 17 cases tested lacked the promyelocytic/retinoic acid receptor alpha (RAR alpha) fusion transcript in RT-PCR assays; 12 cases had 46, XX or 46, XY karyotypes, whereas 2 cases had abnormalities of chromosome 17q: 1 with del (17) (q25) and the other with t (11; 17) (q23; q21) and the promyelocytic leukemia zinc finger/RAR alpha fusion transcript.

promyelocytic leukemia zinc finger

abnormalities


Input: Chemerin is a chemoattractant adipokine that regulates adipogenesis and may induce insulin resistance.

Chemerin

insulin resistance


Input: Transforming growth factor, beta receptor II (TGFBR2) is mainly expressed by neurons in the central nervous system, and reduced neuronal TGFBR2 signaling results in accelerated age-dependent neurodegeneration.

neurodegeneration


Input: HLA-A, B and DR typing was performed on a total of 236 patients with chronic glomerulonephritis (CGN) which were diagnosed by renal biopsies evaluated by light microscopy, direct immunofluorescent staining and whenever indicated electron microscopy.

HLA-A

chronic glomerulonephritis


Input: To understand the mechanisms that generate genome instability mediated by mRNP biogenesis impairment and by AID, we devised a yeast chromosomal system based on different segments of mammalian S regions and c-MYC for the analysis of chromosomal rearrangements in both wild-type and THO mutants.

AID

genome instability


Input: We have evaluated levels of 6 cytokines in sera of 35 patients of kala azar (KA), 29 post kala azar dermal leishmaniasis (PKDL), and 18 healthy controls using cytometric bead array technology.

PKDL

leishmaniasis


Input: These results identify a previously undescribed KCNH2 channel isoform involved in cortical physiology, cognition and psychosis, providing a potential new therapeutic drug target.

psychosis

psychosis


Input: Serum omentin-1 correlated positively with QUICKI but negatively with body weight, BMI, waist and hip circumferences, weight gain, and HOMA-IR.

omentin

body weight


Input: Peripheral blood from unrelated, consenting registry patients with pheochromocytoma was tested for mutations of RET, VHL, SDHD, and SDHB.

RET

pheochromocytoma

RET

pheochromocytoma


Input: The majority of subjects in which HSV was detected had low levels of CVL fluid HSV, with no detectable HSV-2 antibodies and were asymptomatic.

CVL

asymptomatic


Input: The human transcription factor gene, CHOP, which maps to 12q13, was recently shown to be disrupted by the t (12; 16) (q13; p11) in myxoid liposarcoma.

myxoid liposarcoma


Input: Thus in rheumatoid arthritis, the capacity of synovial fibroblasts in the hypoxic environment to secrete large amounts of VEGF in response to cytokines such as TGF-beta probably contributes significantly to angiogenesis in the synovium.

VEGF

hypoxic


Input: Mutations in GRIP1 cause classic FS in humans.

FS

FS


Input: MCTx-1 from Millepora, a homolog of DPT, is identified as a cytotoxin towards leukemia cells.

DPT

leukemia


Input: The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31.

PNKD

PNKD


Input: Levels of VEGF-A in conditioned medium (CM) from both cell lines doubled when cultured in hypoxia.

VEGF-A

hypoxia


Input: p53, the major human tumor suppressor, appears to be related to sonic hedgehog (Shh)-Gli-mediated tumorigenesis.

sonic hedgehog

tumorigenesis


Input: Two-minute topical treatment of TSA on rabbit corneas subjected to-9 D PRK significantly decreased corneal haze in vivo.

PRK

corneal haze


Input: After ureteral obstruction, RAMP1, RAMP2, and CRLR gene expressions in the obstructed kidney were markedly upregulated, whereas RAMP3 expression was unchanged.

ureteral obstruction


Input: We performed comparative genomic hybridization (CGH) on 27 neuroblastomas and dual-color fluorescence in situ hybridization (FISH) to identify genetic aberrations associated with progressive neuroblastoma showing resistance to aggressive treatment.

FISH

neuroblastoma


Input: T-cell receptor beta chain gene rearrangement in acute myeloid leukemia always occurs at the allele that contains the undermethylated J beta 1 region.

T-cell receptor beta chain gene

acute myeloid leukemia


Input: Mice lacking ERK1 exhibited enhanced fear extinction and reduced depression caused by overactivation of ERK2.

depression

depression


Input: We have used Msx1-deficient mice as a model system that exhibits severe craniofacial abnormalities, including cleft secondary palate and lack of teeth, to study the genetic regulation of mammalian palatogenesis.

craniofacial abnormalities

craniofacial abnormalities


Input: Efforts to dissect BPAD have been based on the course of the disorders (BP I versus BP II or rapid cycling), comorbidity pattern (panic attacks, suicide attempts, addiction or hyperactivity), differences between the sexes, and clinical pattern (cycloid and puerperal psychosis).

BP II

BPAD

BP II

BPAD


Input: In an attempt to identify potential markers of steroid-resistance in focal segmental glomerulosclerosis (FSGS) we evaluated intra-graft gene expression of IkappaBalpha, nuclear factor-kappaB (NF-kappaB), and angiotensinogen in 60 biopsies from 27 pediatric renal transplant recipients.

IkappaBalpha

focal segmental glomerulosclerosis


Input: Defining the normal range as the mean +/-2 SD of TFPI activity in controls, twelve patients had low post-heparin TFPI activity levels, seven with venous and five with arterial thrombosis.

TFPI

arterial thrombosis


Input: Arginase (ARG), an enzyme implicated in many cardiovascular diseases, can compete with nitric oxide (NO) synthase for their common substrate, L-arginine.

ARG

cardiovascular diseases


Input: Thus, in the present study, we evaluated the expression of VEGF and Dll4/Notch signaling molecules, and assessed their association with the microvessel density (CD31) and hypoxia (HIF1a) in lung cancer and normal lung tissues using immunohistochemical and Real-time RT-PCR techniques.

VEGF

hypoxia


Input: Adipose tissue of DPP4-rats demonstrated increased adipocyte maturation and increased expression of enzymes involved in triglyceride uptake and synthesis, yet increased adiponectin mRNA, reduced mRNA of proinflammatory cytokines and reduced vascular adhesion molecules, suggesting reduced inflammation.

adhesion


Input: The up-modulation of cell-adhesion molecules (NCAM, ICAM-1 and Thy1) and immune recognition molecules (NCAM, ICAM-1 and MHC class I), associated with reduced growth and tumour cell differentiation, suggests that RA may have a potential role in regulating the growth and development of retinoblastoma tumours.

adhesion


Input: The most common genetic aberration in follicular lymphoma (FL) is the t (14; 18) (q32; q21) translocation that juxtaposes the antiapoptotic BCL2 gene with the promoter of the immunoglobulin heavy-chain (IgH) gene, which is the molecular hallmark of FL, whereas a subset of cases harbor translocations involving the BCL6 gene locus.

BCL2 gene

translocation


Input: As compared with wild type, CAV1 knockout mice displayed higher blood pressure levels and higher fasting glucose, insulin, and HOMA-IR levels and an exaggerated glycemic response to a glucose challenge.

blood pressure


Input: We showed that expression of BCR-ABL1 correlates with decreased level of BRCA1 protein, which promoted aberrant mitoses and aneuploidy as well as altered DNA damage response.

BCR

aneuploidy


Input: We tested two FKBP5 single nucleotide polymorphisms (rs1360780 and rs3800373) in a sample of 246 geriatric patients treated for 8 weeks in a double-blind randomized comparison trial of paroxetine and mirtazapine.

blind


Input: It is well established that microsatellite instability (MSI), the hallmark of defective DNA mismatch repair (MMR), is associated with prolonged survival in colorectal cancer compared with tumours that are microsatellite stable (MSS).

MMR

microsatellite instability


Input: We investigated plasma levels of selected hematopoietic cytokines: stem cell factor (SCF), granulocyte-macrophage colony-stimulating factor (GM-CSF), granulocyte colony-stimulating factor (G-CSF), and macrophage colony-stimulating factor (M-CSF) and the tumor marker cancer antigen (CA 125) in epithelial ovarian cancer patients as compared with control groups: benign ovarian tumor patients (cysts) and healthy subjects.

M-CSF

cysts


Input: Taken together, our data identify distinct mechanisms underlying ectopic MEF2C expression in T-ALL, either as a downstream target of NKX2-5, or via chromosomal aberrations deleting proximal gene regions.

chromosomal aberrations


Input: To identify the molecular mechanisms of MIA regulating pigmentation, MITF and PAX3, two positive regulators of Trp-1 and tyrosinase transcription, and PIAS3, a negative regulator of MITF activity, were analyzed.

pigmentation


Input: Left ventricular biopsies were taken from explanted hearts of patients with end-stage heart failure due to dilated cardiomyopathy (CMP; n = 15) or ischemic heart disease (CAD; n = 9), and compared with homograft control preparations from organ donors deceased due to non-cardiac causes (n = 7).

CMP

dilated cardiomyopathy


Input: DNA from 99 nonimmunocompromised patients with sulfonamide hypersensitivity who were identified from the Personalized Medicine Research Project at the Marshfield Clinic, and from 99 age-matched, race-matched, and sex-matched drug-tolerant controls, were genotyped for four CYB5A and five CYB5R3 polymorphisms, and for all coding NAT2 SNPs.

hypersensitivity


Input: We propose that increased SAH levels and inflammation affect widespread epigenetic regulation of gene expression in WD.

SAH

inflammation


Input: Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.

familial partial lipodystrophy

familial partial lipodystrophy


Input: Identification of p53 genetic alteration may help in diagnosing malignant giant-cell tumor.

giant


Input: A case of Fabry' s disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

alpha-galactosidase A

Fabry' s disease

alpha-galactosidase A

Fabry' s disease


Input: Although disruption of genes related to hematopoiesis often leads to the development of leukemia and lymphoma, the involvement of TIS11D in hematological malignancies remains to be determined.

lymphoma


Input: Mdr2 (-/-) IKK2 (Hep-KO) mice remarkably recapitulate chronic liver failure in humans and might be of special importance for the study of the mechanisms contributing to the pathogenesis of end-stage chronic liver disease or its implications on other organs.

chronic liver failure

chronic liver failure


Input: The authors analyzed the association between APOE epsilon4 genotype and clinical and MRI findings in 43 refractory temporal lobe epilepsy patients.

MRI

temporal lobe epilepsy


Input: The SHRs showed significant increase in BP, micturition frequency, and expression of MDA, 4-HNE, Nrf2, and NGF when compared to the control Wistar rats.

NGF

micturition frequency


Input: This approach identified several candidate genes, including Acvr1, associated with increased susceptibility to acute lung injury in mice.

acute lung injury

acute lung injury


Input: We tested 67 Iranian individuals, presenting with low mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels, normal hemoglobin electrophoresis and iron status, for the presence of twelve common alpha-thalassemia gene deletions and point mutations.

MCH

mean corpuscular volume


Input: We propose a model of' conditional haploinsufficiency' for BRCA1/2 under conditions of enhanced DNA damage in precancerous lesions resulting in more robust activation and hence increased selection for inactivation or loss of ATM in tumours of BRCA1/2 mutation carriers, with implications for genomic instability and curability of diverse subsets of human breast cancer.

genomic instability


Input: In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature.

FISH

short stature


Input: IL-12 was localized in multinucleated giant cells and macrophages of the sarcoid granulomas, whereas IFN-gamma was detected in lymphocytes and vascular endothelial cells.

IFN

granulomas


Input: To explore the relation of asbestosis to human 8-oxoguanine DNA glycosidase (hOGG1) genotype and DNA damage, the investigation of hOGG1 polymorphism distribution and DNA strand breakages in peripheral lymphocytes was carried on in occupational population.

asbestosis


Input: Phosphorylated-DCX induced depolymerization of actin filaments in U87 cells, down-regulated matrix metalloproteinases-2 and-9, and inhibited glioma U87 cell invasion in a neurabin II dependent pathway.

glioma


Input: BOVIB history and psychological status were screened by BOVIB-Q, depression (BDI), anxiety (BAI, STAI) and personality (TCI) questionnaires.

TCI

anxiety


Input: These results suggest the essential role of SCF/KIT signaling in the proliferation of DS-related leukemia and the possibility of therapeutic benefits of imatinib for TL patients.

SCF

leukemia


Input: The phenomenon that AQP4 had an increased expression in the surrounding region of cerebellar metastatic tumor and, moreover, increased significantly in the region next to the cerebellar metastatic tumor tightly is probably related to the formation of peritumoral brain edema and plays an important role in cytotoxic brain edema mechanism.

cytotoxic brain edema


Input: Clinical parameters including volumetric assessment of preoperative and postoperative MRI were recorded prospectively on 335 malignant astrocytoma patients: n = 128 anaplastic astrocytomas and n = 207 glioblastoma.

MRI

glioblastoma


Input: CCM3Delta proteins interacted with CCM1 and CCM2, but not with other proteins known to bind wild-type CCM3, serine/threonine protein kinase MST4 (MST4), sterile 20-like serine/threonine kinase 24 (STK24), and STK25, all of which have poorly defined biological functions.

sterile


Input: The aim of the study was to investigate the possible association of AluI and RsaI polymorphisms of estrogen receptor β (ER-β) gene and 23-bp nucleotide repeat polymorphism of estrogen-related receptor α (ERRα) gene with bone mineral density (BMD) in postmenopausal Egyptian women.

ERRα

bone mineral density


Input: Perinuclear positioning of the inactive human cystic fibrosis gene depends on CTCF, A-type lamins and an active histone deacetylase.

CTCF

cystic fibrosis


Input: MEK-dependent Erk1 and Erk2 (hereafter referred to as Erk1/2) signaling is identified as a downstream target of M. leprae-induced ErbB2 activation that mediates demyelination.

demyelination


Input: Genotypes of FTO were correlated with insulin resistance, and homozygous C/C was positively correlated with an increase in insulin resistance over the value predicted by the increase in BMI.

FTO

insulin resistance


Input: We have utilized the technique of single strand conformation polymorphism (SSCP) analysis for the btk gene to identify mutations in XLA patients.

btk

XLA

btk

XLA


Input: Several mutations of the human gene (called POU1F1) have been shown to be responsible for a phenotype of combined pituitary hormone deficiency involving GH, prolactin (PRL), and TSH.

pituitary hormone deficiency


Input: Follicular thyroid hyperplasia (FTH) refers to enlargement of the thyroid gland due to cellular hyperplasia.

FTH

hyperplasia


Input: Tumor specimens were analyzed for BRAF and KRAS mutations, CpG island methylator phenotype-specific promoters (CACNA1G, CDKN2A, IGF2 and RUNX3), IGFBP7, MGMT, MLH1 and RASSF2 methylation, microsatellite instability (MSI) and microRNA-31 (miR-31).

microsatellite instability


Input: In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptor-related 2 (PVRL2) gene (FDR & lt; 0. 25), which is involved in spreading of herpes simplex virus (HSV).

herpes simplex

herpes simplex


Input: ERRalpha and ERRgamma are promising to be new prognostic factors in endometrial adenocarcinoma.

ERRalpha

endometrial adenocarcinoma


Input: The human serum protein transthyretin (TTR) is highly fibrillogenic in vitro and is the fibril precursor in both autosomal dominant (familial amyloidotic polyneuropathy [FAP] and familial amyloidotic cardiomyopathy [FAC]) and sporadic (senile systemic amyloidosis [SSA]) forms of human cardiac amyloidosis.

SSA

cardiac amyloidosis


Input: This proliferation may be a relevant factor in EBV-associated T-cell malignancies as well as EBV causation of acute infectious mononucleosis (AIM).

AIM

infectious mononucleosis


Input: Increased PIM1 can also facilitate genomic instability to promote neoplastic processes.

genomic instability


Input: To assess salivary gland tissues obtained from patients with primary Sjögren' s syndrome (SS) for the gene expression profile of the candidate genes TNFRSF6 (Fas), TNFSF6 (FasL), SSA1 (Ro52 alpha and the splice variant Ro52 beta), SSB (La), CTLA4, PDCD1 (PD-1), and ORM2, which were selected on the basis of their putative participation in salivary gland inflammation.

salivary gland inflammation


Input: PCR-based assays were performed to determine LT-alpha-NcoI * 1 and TNF-alpha-308 * 2 genotypes among our subjects, with 128 atopic asthmatics and 51 non-atopic asthmatics, 55 atopic controls, and 78 non-atopic controls in this genetic case-control study.

TNF-alpha

atopic


Input: Since its discovery from a translocation in leukemias, the runt-related transcription factor 1/acute myelogenous leukemia-1 (RUNX1/AML1), which is widely expressed in hematopoietic cells, has been extensively studied.

translocation


Input: The pattern of ERG abnormalities was consistent with the working diagnosis FA.

ERG

abnormalities


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

heart failure

heart failure


Input: Recent studies revealed that several HRMs including let-7 family miRNAs were highly induced in response to HIF (hypoxia-inducible factor) stabilization in hypoxia, and they potently participated in angiogenesis by targeting AGO1 (argonaute 1) and upregulating VEGF (vascular endothelial growth factor).

VEGF

hypoxia


Input: We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.

schizophrenia

schizophrenia


Input: Impaired function of paracellin-1 leads specifically to urinary losses of magnesium and calcium, but because transcellular transport is intact these patients do not have hypokalemia or salt wasting.

hypokalemia


Input: We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients.

asymptomatic


Input: Role of regulator of G protein signaling 16 in inflammation-induced T lymphocyte migration and activation.

regulator of G protein signaling 16

inflammation


Input: Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.

LEPR

weight


Input: Familial or sporadic male-limited precocious puberty is a distinct and unusual gonadotrophin-independent form of sexual precocity caused by constitutively activating mutations of the luteinizing hormone receptor (LHR).

hormone receptor

sporadic


Input: One of the causes of combined pituitary hormone deficiency (CPHD) is represented by Prophet of Pit-1 (PROP-1) gene inactivating mutations.

pituitary hormone deficiency


Input: The epithelial-to-mesenchymal transition (EMT) is a necessary step toward metastatic tumor progression.

EMT

tumor progression


Input: We constructed a high-resolution physical map and contig over 1. 4 Mb that includes the beta-hemoglobin gene cluster and the gene for the large subunit of ribonucleotide reductase (RRM1).

hemoglobin


Input: We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients.

CSS

CSS


Input: Consequently, novel strategies targeting and inhibiting VEGF overproduction upon hypoxia offer considerable potential for modern anticancer therapies controlling rather than destroying tumor angiogenesis.

VEGF

hypoxia


Input: The aim of this study was to investigate changes in the hippocampal expression of three different connexins at consecutive developmental stages after acute hypoxia at P10 (10min and 30min after reoxygenation, P11, P14, P17, P29, and P45) as compared to sham manipulated pups.

hypoxia


Input: Erythropoietin receptor positive cell lines U87 human glioma and MCF-7 human breast carcinoma were studied.

glioma


Input: Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gs & #945;-receptor interaction.

GNAS

pseudohypoparathyroidism type Ic

GNAS

pseudohypoparathyroidism type Ic


Input: The proportion of lesions positive for PCNA, p53, DFF45, and values of AgNORs parameters steadily increased from hyperplasia to mild, moderate and severe dysplasia, and SCC, especially in those showing positive DNA instability test, indicative of malignancy.

PCNA

hyperplasia


Input: A three-locus SNP genotype combination involved in the interactions of COMT and ALDH3B1 genes was detected to be significantly susceptible to schizophrenia.

schizophrenia

schizophrenia


Input: The transcription factors NF-kappaB and AP-1 are activated by rotavirus infection, but the upstream processes leading to these events are largely unidentified.

rotavirus infection


Input: LIFR localised to villous and extravillous trophoblast and Fallopian tube epithelium in ectopic pregnancy.

LIFR

ectopic pregnancy


Input: We sought to determine the frequency of BRAF mutations in human lung cancer pathogenesis.

BRAF

lung cancer

BRAF

lung cancer


Input: We also report that Ahr-and Vav3-deficient mice display hypertension, tachypnea, and sympathoexcitation.

Ahr

hypertension

Ahr

hypertension


Input: In HCV genotype 2 infected patients carrying the PNPLA3 148M allele, there was significantly increased insulin resistance (P = 0. 023) and lower viral load (P = 0. 005) at baseline as well as the first seven days of antiviral treatment.

insulin resistance


Input: Genome-wide gene expression profiling by MACE (Massive Analysis of cDNA Ends) identified 80 genes to be differentially expressed between HD patients and controls, which could be linked to cardiovascular disease (e. g., KLF6, DUSP6, KLF4), to infection/immune disease (e. g., ZFP36, SOCS3, JUND), and to distinct proatherogenic pathways such as the Toll-like receptor signaling pathway (e. g., IL1B, MYD88, TICAM2), the MAPK signaling pathway (e. g., DUSP1, FOS, HSPA1A), and the chemokine signaling pathway (e. g., RHOA, PAK1, CXCL5).

cardiovascular disease


Input: Using immunohistochemistry and real-time reverse transcription-polymerase chain reaction, we examined the correlation between HIPK2 and HIPK2-related protein expressions and the progression of some cutaneous epithelial neoplasms (i. e., actinic keratosis, Bowen' s disease, keratoacanthoma, squamous cell carcinoma, and basal cell carcinoma).

basal cell carcinoma


Input: These findings suggest that the hippocampal lateralized antinociceptive effect of VIP in OBX rats depends on the hemisphere of injection and suggest that VIP-ergic neurons in the hippocampal CA1 area may play differential role in nociception of rats with a model of depression.

depression


Input: In contrast, FHIT alterations were found in the three RER (+) pancreatic carcinomas screened; two had FHIT homozygous deletions affecting exon 5 and the third had a heterozygous missense mutation (H76N).

RER

carcinomas


Input: Data show an ischemia/reperfusion-induced decrease in the mRNA levels of the NMDAR NR1, NR2A and NR2B subunits genes, which contrasts with the increase in the CD11b and GFAP mRNA levels.

ischemia


Input: Recently, however, a homozygous nonsense DIAPH1 mutation (c. 2332C4T; p. Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis.

developmental delay

developmental delay


Input: These results further suggest that GRP78 expression level in the tumor cells may serve as a prognostic marker for responsiveness to hormonal therapy based on estrogen starvation and that combination therapy targeting GRP78 may enhance efficacy and reduce resistance.

starvation


Input: We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome-pathogenic biallelic variants in the HTRA2 gene, encoding a mitochondria-localised serine protease-in five subjects from two unrelated families characterised by seizures, neutropenia, hypotonia and cardio-respiratory problems.

neutropenia

neutropenia


Input: To observe the expression level of Cubilin in the renal tubules of rats with STZ-induced diabetic nephropathy, to assess its correlation with 24 hours' albuminuria, and to investigate the mechanisms of tubular dysfunction at the early stage of diabetic nephropathy.

STZ

albuminuria


Input: Risk variant at FTO rs9939609 associated with higher weight-for-height in the healthy children (P =. 001).

FTO

height


Input: Gastric cancer-specific CTLs specifically lysed autologous and allogeneic HLA-A2. 1 +, HER2/neu + gastric cancer cells, HER2/neu-transfected C1R/A2 cell lines (HLA-A2. 1 +, HER2 +) and HLA-A2. 1-transfected SW626 tumor cell lines (HLA-A2. 1 +, HER2 +).

gastric cancer


Input: To examine whether a relationship exists between genetic polymorphisms of glutathione S-transferase (GST) M1 and T1, CYP1A1 (*) 2C, and male factor infertility.

infertility


Input: The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), and colorectal (paternal uncle) cancers.

CALS

duodenal cancer


Input: Treatment of hypoxic tumor cells with HMGB1 and BzATP ligands, respectively, of RAGE and P2X7R, activated a signaling pathway that, through Akt and Erk phosphorylation, determines nuclear accumulation of NF-κB and increases cell invasion.

hypoxic


Input: A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.

androgen receptor

Reifenstein syndrome

androgen receptor

Reifenstein syndrome


Input: The most common translocation in human lymphoma, the t (14; 18) (q32; q21), generates heterogeneous 4. 2-7. 2 kb Bcl-2-immunoglobulin (Ig) chimeric mRNAs resulting from alternative Bcl-2 5' exons and varied Ig 3' untranslated regions (UT).

translocation


Input: Time lapse microscopy and Transwell migration data show that the absence of both Nischarin and LKB1 from an invasive breast cancer cell line (MDA-MB-231) enhances migration as measured by increased distance and speed of migrating cells.

Nischarin

invasive breast cancer


Input: Tumor suppressor functions of FOXO transcription factors are lost in cancer cells as a result of chromosomal translocation, deletion, miRNA-mediated repression, AKT-mediated cytoplasmic sequestration or ubiquitination-mediated proteasomal degradation.

AKT

chromosomal translocation


Input: The pathophysiology and clinical severity of beta-thalassemia are related to the degree of alpha/non-alpha-chain imbalance.

alpha-chain

beta-thalassemia


Input: Repeated activations of VEGF gene expression under hypoxia were confirmed in HEK293 and C2C12 cells transfected with pVHAVI.

VEGF

hypoxia


Input: Confirmation of these findings is needed before the Kozak sequence variant can be accepted as a potential marker for personalized treatment of affective disorders with drugs targeting the metabotropic glutamate receptor 3.

metabotropic glutamate receptor 3

affective disorders

metabotropic glutamate receptor 3

affective disorders


Input: Moreover, double-staining experiments demonstrated colocalization of ICAM-1 and B7. 1 molecules in HT, whereas no B7. 1 expression was observed in Graves' or in non-autoimmune thyroid diseases.

B7. 1

thyroid diseases


Input: The hypoxia-induced increase in VEGF and its receptors was affected by SRIF analogues, with ameliorative effects of octreotide and worsening effects of CYN, which were more pronounced in the presence of sst (2) overexpression.

VEGF

hypoxia


Input: In order to investigate the role of murine double minute 2 (MDM2) in cell proliferation and carcinogenesis in condyloma acuminatum (CA), immunohistochemistry and in situ hybridization were used to detect the expression of MDM2 protein and mRNA in normal skin and skin lesions of CA of vulva.

condyloma acuminatum


Input: We recently reported that chronic lymphocytic leukemia (CLL) cells synthesize and release vascular endothelial growth factor (VEGF) under normoxic and hypoxic conditions.

VEGF

hypoxic


Input: The preliminary data address the following: low-density lipoproteins and cholesteryl ester transfer protein in amphotericin B renal toxicity; toll-like receptor 1 and 2 in amphotericin B infusion-related ADRs; phosphodiesterase 6 in voriconazole visual adverse events; flavin-containing monooxygenase, glutathione transferases and multidrug resistance proteins 1 and 2 in ketoconazole and terbinafine hepatotoxicity; CYP enzymes and P-glycoprotein in drug interactions between azoles and coadministered medications; multidrug resistance proteins 8 and 9 on 5-flucytosine bone marrow toxicity; and mast cell activation in caspofungin histamine release.

toll-like receptor 1

ADR

toll-like receptor 1

ADR


Input: This is the first description of a RIEG1 mutation associated with Peters' anomaly.

Peters' anomaly

Peters' anomaly


Input: YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.

N-myc

translocation


Input: Assessment of BCL2/J (H) translocation in healthy individuals exposed to low-level radiation of 137CsCl in Goiânia, Goiás, Brazil.

translocation


Input: Overexpression of the bcl-2 gene as a result of the t (14, 18) translocation leads to neoplastic transformation by suppressing apoptosis.

bcl-2 gene

translocation


Input: CGRP infusion did not induce an aura in any of the participants.

CGRP

aura


Input: FRA8I encompasses KIAA0146, a large protein-coding gene with yet unknown function, as well as CEBPD and part of PRKDC, two genes encoding proteins involved in tumorigenesis in a variety of cancers.

tumorigenesis


Input: Thus, Netrin-1, Slits and their receptors may contribute to the regenerative failure of axons in the adult CNS by inhibiting axon outgrowth or by participating in the formation of the CNS scar.

scar


Input: Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.

aggressiveness


Input: The endothelial and stromal expression of zeb1 and the epithelial expression of twist were disturbed in those placentas with chromosomal aberrations.

chromosomal aberrations


Input: We utilized ovarian cancer cell line, Caov3, cells to investigate the effect of paclitaxel on EGFR-mediated MAP kinase and AKT activation, and the expression of survivin.

AKT

ovarian cancer

AKT

ovarian cancer


Input: In the present study, we investigated the mRNA expression levels of HIF-1 (α and β) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).

major depressive disorder


Input: To further explore mechanisms of hypoxia-induced PH and reductions in PPARγ, we examined the effects of hypoxia on selected microRNA (miRNA or miR) levels that might reduce PPARγ expression leading to increased ET-1 expression and PH.

PPARγ

hypoxia


Input: Factor X (FX) activation experiments employing recombinant FVIII-R531G revealed that the activated FVIII-R531G heterotrimer was less stable than normal FVIIIa, apparently due to rapid dissociation of the A2 domain.

FVIII

dissociation


Input: We observed a dissociation between the in vitro effects of SST-14 or lanreotide on tumor cell proliferation and the effects on GH secretion in human somatotroph tumors.

SST

dissociation


Input: Results suggested that ERRalpha and ERRgamma might participate in the tumorigenesis of endometrial adenocarcinoma.

ERRalpha

endometrial adenocarcinoma


Input: Mice homozygous for the mutation showed loss of LMOD1 protein and pathology consistent with MMIHS, including late gestation expansion of the bladder, hydronephrosis, and rapid demise after parturition.

MMIHS

MMIHS


Input: The proinflammatory cytokines IL-17A and IL-17F can mediate inflammation and cancer.

inflammation


Input: Mutations at Gly-537 account for 4 of 5 HIF2A mutations associated with erythrocytosis.

erythrocytosis


Input: To clarify the association between factors regulating DNA methylation and the prognosis of autoimmune thyroid diseases (AITDs), we genotyped single nucleotide polymorphisms in genes encoding DNA methyltransferase 1 (DNMT1), DNMT3A, DNMT3B, methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), which are enzymes essential for DNA methylation.

thyroid diseases


Input: An increased prevalence of bcl-2 rearrangement (the t (14; 18) translocation) has been shown in patients infected with HCV.

translocation


Input: Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer.

hereditary breast and ovarian cancer

hereditary breast and ovarian cancer


Input: Here, we show that the replisome factor minichromosome maintenance complex-binding protein (MCMBP), which is directly involved in the dynamics of the minichromosome maintenance complex and contributes to maintaining sister chromatid cohesion, is transcriptionally misregulated in different types of carcinomas.

MCMBP

carcinomas


Input: RT-PCR analysis and Western blot assay showed that MTA1 expression is significantly higher in highly metastatic prostate cancer PC-3M-1E8 cells (1E8) than in poorly metastatic prostate cancer PC-3M-2B4 cells (2B4).

metastatic prostate cancer


Input: Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably.

CHED

CHED


Input: The study indicates association of RAS variants with obesity and nephropathy, and an opposite effect of NOS3 VNTR and NOS3 G894T on the occurrence of combined microangiopathy.

microangiopathy


Input: A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.

TD

TD


Input: Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma.

MIM

erythroderma


Input: Mutations within the pituitary-specific paired-like homeobox gene PROP1 have been described in 50-100% of patients with familial combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: Detailed analysis of cells isolated from Ddx11-/-embryos revealed a G2/M cell cycle delay, an increased frequency of chromosome missegregation, decreased chromosome cohesion, and increased aneuploidy.

aneuploidy


Input: The proband is a 19-year-old Caucasian woman who initially presented in childhood with lichenoid papules affecting her extensor limbs and intense pruritus consistent with EBP.

EBP

pruritus


Input: We tested the gene' s contribution to autism by screening its exons in 125 independent autistic probands and genotyping two promoter polymorphisms in 65 autism affected sibling pair (ASP) families.

ASP

autism


Input: Immunofluorescence performed on skin fibroblasts from a patient with p. Glu134 * confirms the generalized nature of extracellular matrix abnormalities in BCS.

BCS

abnormalities


Input: We defined' mild' RER as mono-or tetranucleotide repeat instability in the absence of widespread instability at dinucleotide repeats and studied 15 colorectal tumors with this phenotype for mutations in the DNA mismatch repair genes MSH2, MLH1, MSH3, and MSH6.

RER

mild


Input: We have recently demonstrated an unequivocal role for scar-associated macrophages (SAMs) in the spontaneous resolution of liver fibrosis and sought to determine whether SAMs are the source of matrix metalloproteinase (MMP) 13 (collagenase 3), considered to be the primary interstitial collagenase in rodents.

interstitial collagenase

scar


Input: APJ was expressed in all myocardial samples and myocardium exposed to longer durations of ischemia and cardioplegia expressed higher levels of APJ (p < 0. 05).

APJ

ischemia


Input: Interspecies trait genetics reveals association of Adcy8 with mouse avoidance behavior and a human mood disorder.

mood disorder

mood disorder


Input: Immunofluorescence of HGPS fibroblasts with antibodies directed against lamin A revealed that many cells show visible abnormalities of the nuclear membrane.

lamin

HGPS

lamin

HGPS


Input: Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome.

Joubert syndrome

Joubert syndrome


Input: Transforming growth factor-beta 1 messenger RNA was slightly more expressed by involuted hemangiomas (117 +/-30 cells/mm2).

hemangiomas


Input: Comparison with two other coexpressed mutant/normal channels suggests that the I4898T mutation produces one of the most abnormal RyR1 channels yet investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected central core disease individuals.

central core disease

central core disease


Input: Additionally, the modulating effects of different MBL expression genotypes [high level (HL) versus intermediate or low level (IL/LL)] on arterial stiffness in different groups were assessed.

MBL

arterial stiffness


Input: One result of this translocation is a fusion between the AML1, MDS1, and EVI1 genes, which encodes a transcription factor of approximately 200 kDa.

translocation


Input: Expression of the bcl-2 oncogene protein is not specific for the 14; 18 chromosomal translocation.

chromosomal translocation


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

SZ

SZ


Input: Trichostatin A, a histone deacetylase inhibitor, activates the IGFBP-3 promoter by upregulating Sp1 activity in hepatoma cells: alteration of the Sp1/Sp3/HDAC1 multiprotein complex.

hepatoma


Input: FLCs contain mutations and chromosomal aberrations not previously associated with liver cancer, and almost 80% contain the DNAJB1-PRKACA fusion transcript.

PRKACA

chromosomal aberrations


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

vitiligo


Input: On establishing a relation between TTV infection with other hepatitis viral infections, TTV demonstrated co-infection with HBV, HCV and HEV in these disease groups.

TTV

viral infections


Input: Additionally, pioglitazone significantly enhanced carcinoid cell death induced by tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL).

TRAIL

carcinoid


Input: We investigated ALK protein expression, phosphorylation, and genetic aberrations using fluorescence in situ hybridization (FISH) in 81 soft tissue tumor samples: inflammatory myofibroblastic tumor, n = 1; alveolar soft part sarcoma, n = 2; leiomyosarcoma, n = 10; well-differentiated liposarcoma, n = 7; pleomorphic liposarcoma, n = 2; extraskeletal osteosarcoma, n = 1; epithelioid sarcoma, n = 1; synovial sarcoma, n = 4; malignant peripheral nerve sheath tumor, n = 4; undifferentiated pleomorphic sarcoma, n = 19; rhabdomyosarcoma, n = 6; myxofibrosarcoma, n = 8; myxoid liposarcoma, n = 11; fibrosarcoma, n = 4; and desmoid-type fibromatosis, n = 1.

FISH

undifferentiated pleomorphic sarcoma


Input: Inactivation of FAT1 via mutation therefore promotes Wnt signaling and tumorigenesis and affects patient survival.

tumorigenesis


Input: Alpha-1-antichymotrypsin (ACT) is a component of plaque cores, can bind to Abeta, and has been proposed as a possible candidate gene for AD susceptibility.

ACT

plaque


Input: Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion.

SAM syndrome

SAM syndrome


Input: The DNA was amplified with primers specific for the major break point region of the t (14; 18) translocation, and the presence of the bcl-2 oncogene was correlated with clinical, cytomorphologic, histologic and immunologic findings.

translocation


Input: In addition, we also report a high frequency of cryptic chromosomal RUNX1 translocation to a novel recently described gene partner, PRDM16 on chromosome 1p36, for 3 (21. 4%) of 14 investigated patients: 2 myeloid BC CMLs and, for the first time, 1 therapy-related BCR-ABL + ALL.

translocation


Input: No mutations were found in SPTLC3, but we identified three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families presenting with a typical HSAN-I phenotype.

HSAN-I

HSAN-I


Input: However, by 8 months, the liver: body weight ratios had normalized in both TGF-alpha single transgenic and TGF-alpha/Bcl-2 double transgenic mice.

body weight


Input: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Emberger syndrome

Emberger syndrome


Input: Epithelial derived CTGF promotes breast tumor progression via inducing EMT and collagen I fibers deposition.

EMT

tumor progression


Input: As NMDA receptors have been implicated in the pathogenesis of epilepsy, we were interested in determining whether GRINA mapped to the same region of chromosome 8 as BFNC.

GRINA

epilepsy


Input: Of the 22 tumor suppressor genes examined, aberrant methylation was observed for 9 genes: tumor protein p73 (TP73), fragile histidine triad (FHIT), von Hippel-Lindau (VHL), adenomatosis polyposis coli (APC), estrogen receptor 1 (ESR1), cyclin-dependent kinase inhibitor 2B (CDKN2B), death-associated protein kinase 1 (DAPK1), glutathione S-transferase pi (GSTP1), and immunoglobin superfamily, member 4 (IGSF4).

adenomatosis


Input: These data agree with previous reports in postmortem brain of cocaine abusers and provide support for an association between alpha synuclein and cocaine dependence.

alpha synuclein

cocaine dependence

alpha synuclein

cocaine dependence


Input: Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

IHH

brachydactyly type A-1

IHH

brachydactyly type A-1


Input: We investigated CSF IL-6 and GFAP concentrations in 13 NMO spectrum disorder (NMOSD) patients at initial attacks, 24 idiopathic central nervous system inflammatory disease patients (9 optic neuritis, 9 myelitis and 6 encephalitis) and 20 other non-inflammatory neurological disorders (ONNDs) patients, retrospectively.

myelitis


Input: Nonsyndromic cleft of the lip and/or palate (CLP or orofacial cleft) derives from an embryopathy with consequent failure of the nasal process and/or palatal shelves fusion.

CLP

orofacial cleft


Input: Expression analysis demonstrated that addition of bevacizumab under hypoxic conditions induced VEGF-A, GLUT-1 and HIF-1α in B16F10 cells as well as in UM cell lines and two of four primary UM tumor cultures.

VEGF-A

hypoxic


Input: The expression of CDC42EP3 mRNA was significantly increased by 19. 7%, and SEPT7 mRNA was significantly decreased by 6. 9% in subjects with schizophrenia.

schizophrenia

schizophrenia


Input: In China, FUS mutations have been reported in several familial ALS pedigrees but not in sporadic ALS cases.

FUS

sporadic


Input: Immunohistochemical analysis showed that SPARC expression was downregulated or absent in 17 of 20 colon cancers.

SPARC

colon cancers

SPARC

colon cancers


Input: We analyzed the intracellular localization of these active WND ATP7B variant proteins using transient transfection of Chinese hamster ovary cells and triple-label immunofluorescence microscopy, as a second possible aspect of defective function.

WND

WND


Input: Secondary, we analysed 38 brain metastases of primary breast carcinomas and detected a significantly reduced expression of PROX1 compared to normal breast tissue (p & lt; 0. 001) and primary breast carcinomas (p & lt; 0. 05), respectively.

metastases

metastases


Input: The ability of KCC009 to interfere with the permissive remodeling of fibronectin in the ECM in glioblastomas suggests a novel target to enhance sensitivity to chemotherapy directed not only at the tumor mass, but also invading glioblastoma cells.

fibronectin

glioblastoma

fibronectin

glioblastoma


Input: The objective of this study was to investigate the effects of prostaglandin E (2) (PGE (2)) on the expression of vascular endothelial growth factor (VEGF) and hypoxia-inducible transcription factor-1 alpha (HIF-1alpha) genes in epithelial ovarian cancer (EOC) cells.

VEGF

hypoxia


Input: The aim was to quantify ER mRNA expression in left ventricular specimens from patients with coronary heart disease (CHD, n = 15) and dilated cardiomyopathy (CMP, n = 38) and compare their levels with those from healthy heart donors (n = 9).

CMP

dilated cardiomyopathy


Input: Knockdown of c8orf37 resulted in impaired visual behavior and BBS-related phenotypes, specifically, defects in the formation of Kupffer' s vesicle and delays in retrograde transport.

BBS

BBS


Input: Using a xenotransplantable, glioma cell line (U87), we observed that knocking down PTTG mRNA by RNA silencing inhibited serum-induced proliferation by approximately 50%.

glioma


Input: The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.

EDNRB

abnormalities


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

muscle hypertrophy


Input: At the functional level, rs1881457 increased IL13 mRNA levels, whereas anxiety and depression scores did not correlate with rs2349775-NXPH1.

anxiety


Input: By means of fluorescence in situ hybridization (FISH), we attempted to detect and delineate deletions of 6q in leukemias and lymphomas.

FISH

leukemias


Input: NO-ASA altered the spatial distribution of VGEF expression, with 16. 7% of the vehicle-treated xenografts displaying diminished VEGF in the inner region of the area between necrosis and the outer perimeter of the tumor, compared with those treated with m-(58. 3%) or p-NO-ASA (75%, P < 0. 01 for both versus control).

VEGF

necrosis


Input: We also found no association between expression levels of TOP2A and pCR rate in either the anthracycline-containing or free arms of TRYPHAENA.

arms


Input: Here, we report that impairment in p27 IRES-mediated translation due to decreased levels of DKC1 activity markedly increases spontaneous pituitary tumorigenesis in p27 heterozygous mice.

tumorigenesis


Input: The transcript levels of survivin, c-MYB, COX-2, iNOS, and Tcf-4 showed a statistically significant increase during neoplastic transformation of UC patient colonic mucosa, whereas hTERT and ILK were not elevated.

MYB

neoplastic transformation


Input: These observations provide evidence that IL-17RC protein isoforms are differentially expressed in prostatic cells and cancer tissues and may play a negative or positive role in the initiation and progression of prostate cancer.

prostate cancer

prostate cancer


Input: HIF-1 alpha protein was expressed in microvessels bordering necrosis where it co-localized with VEGF.

VEGF

necrosis


Input: The relevance of recurrent molecular abnormalities in cytogenetically normal (CN) acute myeloid leukemia (AML) was recently acknowledged by the inclusion of molecular markers such as NPM1, FLT3, and CEBPA as a complement to cytogenetic information within both the World Health Organization and the European Leukemia Net classifications.

CEBPA

abnormalities


Input: Moreover, we show that the expression of pro-angiogenic genes (ADM, GDF15, HMOX1, SERPE1 and SERPB8) is dependent on KDMs under hypoxic conditions.

ADM

hypoxic


Input: Primary cultures of endometrial stromal cells (ESCs) and epithelial cells (EECs) isolated from 24 patients with a normal uterine cavity were transfected with 2. 5 × 10 (8) (Group 1) and 1. 25 × 10 (8) (Group 2) plaque-forming units (PFU) of adenovirus encoding red fluorescent protein (Ad-RFP).

RFP

adenovirus


Input: Previous results from our laboratory indicated that IQGAP1 and RhoC are highly expressed in gastric cancer tissues and cells.

RhoC

gastric cancer


Input: The expression of PDGF-A and PDGFR were reduced in R group during inflammatory responsive and granulation formation periods (14-28 days after radiation, the IA value of PDGF-A varied from 14. 0 +/-1. 2 to 20. 3 +/-1. 2 compared with that in T group in which the IA value of PDGF-A at the same period (3-9 days after injury) varied from 20. 0 +/-1. 6 to 28. 3 +/-1. 0, and reduced gradually during scar formation period (55 days after radiation).

PDGF-A

scar


Input: In the current study, we for the first time investigated by immunohistochemistry and fluorescence in situ hybridization (FISH) the prevalence of cyclin D3 abnormalities in gastrointestinal stromal tumors (GISTs), comparing the results with traditional pathological characteristics, p27 immunoreactivity (IR), and Ki-67 labeling index (LI).

FISH

gastrointestinal stromal tumors


Input: Measurement of beta-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase.

LCHAD

secondary


Input: KLICK syndrome: recognizable phenotype and hot-spot POMP mutation.

POMP

KLICK syndrome

POMP

KLICK syndrome


Input: The considered CMPs were CD45RO, CD26, CD36, glut-R, N-CAM, VCAM-1, ELAM-1, CD44 and CD58, representing lymphomonocyte, neuronal and adhesion molecules.

adhesion


Input: Here, we carry out an extensive genetic screen of primary tumors to evaluate the role of FBXW7 as a tumor suppressor in human tumorigenesis.

tumorigenesis


Input: These cell lines, derived from LAM nodule or an angiomyolipoma, are usually characterized by a mutation of the TSC2 gene, expression of smooth muscle cell antigens such as a-smooth muscle actin (aSMA) or S6K1 and S6 protein hyperphosphorylation.

smooth muscle actin

angiomyolipoma


Input: These CYP21A2 genes were compared to those of 94 fully characterized patients with mild deficiency carrying p. Val282Leu in compound heterozygosity with a severe allele.

mild


Input: Collectively, LMP1 induces AID up-regulation and genomic instability via Egr-1.

AID

genomic instability


Input: Furthermore, knockdown of TFF3 reduced the VEGF protein secretion: as VEGF secretion was increased time dependent manner in response to the hypoxia induction in TFF3-WT cells; however, VEGF production was significantly decreased in TFF3-KD cells (621 ± 89 vs. 264 ± 73 at 6 h and 969 ± 97 vs. 508 ± 69 at 12 h, P < 0. 05).

VEGF

hypoxia


Input: To limit the risk of pathological angiogenesis, we developed a hypoxia-inducible VEGF gene therapy system using the erythropoietin (Epo) enhancer and water-soluble lipopolymer (WSLP).

VEGF

hypoxia


Input: Deficiency in the DNA mismatch repair (MMR) system results in microsatellite instability (MSI).

MMR

microsatellite instability


Input: Taken together, these data confirmed that a mutation in MPZ can cause axonal neuropathy, in the absence of segmental demyelination, thus uncoupling the two pathological processes.

MPZ

segmental demyelination


Input: The vascular endothelial growth factor (VEGF) family and its receptors have multifunctional activities besides angiogenesis, and some of these molecules are induced by hypoxia/ischemia.

VEGF

hypoxia


Input: Hereditary hemorrhagic telangiectasia (HHT) is characterized by vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1.

TGFβ

vascular malformations


Input: Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.

ASC

medulloblastoma


Input: We demonstrated the functional importance of NCC in this response by showing that tacrolimus did not affect blood pressure in NCC-knockout mice, whereas the hypertensive response to tacrolimus was exaggerated in mice overexpressing NCC.

NCC

blood pressure


Input: Genes involved in inflammation (ALCAM, CTSB, C1S, YKL-40, MIF, SAA2), extracellular matrix remodeling (MMP9, PALLD), angiogenesis (EGFL6, leptin) and oxidative stress (AKR1C3, UCHL1, HSPB7 and NQO1) were upregulated; whereas apoptosis, signal transcription (CITED 2 and NR3C1), cell control and cell cycle-related genes were downregulated.

inflammation


Input: We report here that high-fat-diet-fed ABHD6-KO mice show modestly reduced food intake, decreased body weight gain and glycemia, improved glucose tolerance and insulin sensitivity, and enhanced locomotor activity.

insulin sensitivity


Input: With as little as a 5 min duration of status epilepticus (SE), γ-H2AX increased in CA1, CA3, and entorhinal cortex to a greater extent than that observed after the clusters of individual seizures, with still greater increases after 120 min of SE.

seizures


Input: In B-ALL KIBRA methylation was associated with ETV6/RUNX1 [t (12; 21) (p13; q22)] chromosomal translocation (p = 0. 0082) phenotype, suggesting that KIBRA may play an important role in t (12; 21) leukemogenesis.

chromosomal translocation


Input: CPEB4 is necessary for cell survival and becomes nuclear in response to focal ischemia in vivo and when cultured neurons are deprived of oxygen and glucose.

ischemia


Input: The total of 1374 study subjects included 241 outpatients who participated in an H. pylori eradication program (HPE), 679 first-visit outpatients (FVO) at a regional cancer hospital, and 454 local residents who received a health checkup examination (HCE).

HCE

regional cancer


Input: Hemophilia A results from mutations in the gene coding for coagulation factor VIII.

coagulation factor VIII

Hemophilia A

coagulation factor VIII

Hemophilia A


Input: We report here that the suppression of either ITGB4 or NTN4 in glioblastoma cell lines significantly enhances cellular senescence.

glioblastoma


Input: Five of eight SEPN1-related myopathy patients had abnormalities on OGTT suggestive of insulin resistance.

abnormalities


Input: Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.

RTT

RTT


Input: Mice lacking the tumor necrosis factor-alpha receptor 2 (TNFR2) gene fed a high-fat diet gain less weight and display reduced leptin and insulin levels.

weight


Input: HVEM-241GA and-14AG gene polymorphisms were associated with obesity, diastolic pressure, several inflammatory parameters (C-reactive protein and interleukin 18 (IL-18)), and circulating LIGHT concentrations.

diastolic pressure


Input: The reported regression of mucosa-associated lymphoid tissue (MALT) type gastric low-grade B-cell lymphoma following treatment for Helicobacter pylori (H. pylori) infection has not yet been comprehensively analyzed, especially in relation to the recently identified c-IAP2-MALT1/MLT gene alteration resulting from the t (11; 18) (q21; q21) chromosomal translocation found in MALT lymphoma.

MLT

chromosomal translocation


Input: Moreover, fluorescence in situ hybridization performed on paraffin-embedded tissue sections demonstrated an immunoglobulin heavy chain (IGH)/BCL2 translocation signal in both follicular and diffuse components, but an IGH/c-MYC translocation signal in only the diffuse component.

translocation


Input: CNP1 is locally expressed in the myelin sheath but CNP2 is additionally expressed at low levels outside the nervous system.

nervous system


Input: We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.

hypoxia


Input: He had a normal karyotype by G-banded chromosome analysis, and a deletion of the ETV6 (alias TEL) gene was determined by fluorescence in situ hybridization analysis using DNA probes specific for t (12; 21), which leads to ETV6/RUNX1 (alias TEL/AML1) gene fusion, but no translocation was found between the two genes.

translocation


Input: In conclusion, two sporadic cases of hypercalciuric hypocalcemia were due to de novo gain-of-function mutations of the CaR gene.

CaR

hypercalciuric hypocalcemia

CaR

hypercalciuric hypocalcemia


Input: Twenty-five SNPs were used for statistical analysis, where we found strong associations for one SNP in PPP2R4 with the lung clearance index (P ≤ 0. 01), the specific effective airway resistance (P ≤ 0. 005) and the forced expiratory volume in 1 s (P ≤ 0. 005).

forced expiratory volume


Input: Through FISH and whole transcriptome sequencing analysis we found a novel fusion between the IRF2BP2 gene and the transcription factor CDX1 gene arising from the translocation.

IRF2BP2 gene

translocation


Input: E2 reduced hypoxia-induced binding of HIF-1 to the VEGF promoter site and reduced the HIF-1alpha mRNA level.

VEGF

hypoxia


Input: The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.

smoking


Input: Thus, cancers of many histologies exhibit activated HSF1 and increased HSP levels that may help to deter tumor suppression and evade therapy in the clinic.

tumor

tumor


Input: Serum chemerin significantly and positively correlated with triglycerides (TG) and homeostasis model assessment of insulin resistance (HOMA-IR) assessed both by uni-and multivariate.

chemerin

insulin resistance


Input: Around 15% of colorectal cancers (CRCs) show microsatellite instability (MSI) due to dysfunction of the mismatch repair system (MMR).

MMR

microsatellite instability


Input: All the experiments are consistent with the contention that the G985 mutation, resulting in a lysine to glutamate shift at position 329 in the MCAD polypeptide chain, is the genetic cause of MCAD deficiency in this family.

MCAD

MCAD deficiency

MCAD

MCAD deficiency


Input: Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome


Input: The effect of GSTM1 and GSTT1 deletion on survival was analyzed with the logrank test and with Cox regression.

regression


Input: Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.

somatostatin receptor-2

convulsions

somatostatin receptor-2

convulsions


Input: The t (15; 21) translocation also dissociates the P1 promoter of RUNX1 from its open reading frame, reducing RUNX1 expression levels in the patient' s leukemic cells.

translocation


Input: We describe PAP, failure to thrive, and increased GM-CSF levels in two sisters aged 6 and 8 yr with abnormalities of both GM-CSF-Ralpha-encoding alleles (CSF2RA).

PAP

failure to thrive


Input: We classified 175 patients with clinically diagnosed AD and type 2 DM into 4 subgroups on the basis of the presence or absence of cerebrovascular disease (CVD) on MRI (CVD or no CVD) and posterior cerebral hypoperfusion on SPECT (AD pattern or no AD pattern).

MRI

cerebrovascular disease


Input: We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.

Nkx2. 5

cardiac myxoma


Input: All of his three children had Blau syndrome and had inherited the NOD2 mutation.

Blau syndrome

Blau syndrome


Input: These findings indicate that MALT1 translocations are not restricted to indolent-appearing lymphomas, provide further evidence that API2-MALT1 and IGH-MALT1 translocations exhibit biologic differences, have implications regarding the pathogenesis of some extranodal DLBCL, and emphasize that a t (14; 18) (q32; q21) cannot be assumed to reflect a BCL2 translocation.

translocation


Input: To investigate further the mechanisms of VEGF regulation, we examined VEGF expression by mRNA and protein analysis in four human bladder cancer cell lines, showing a progression from well to poorly differentiated phenotypes under varying conditions of confluence and hypoxia (0. 1% O (2)) and with chemical mimics of hypoxia.

VEGF

hypoxia


Input: Here, we report that crosstalk between ROR1-HER3 and the Hippo-YAP pathway promotes breast cancer bone metastasis in a long noncoding RNA-dependent fashion.

breast cancer

breast cancer


Input: In five out of five examined ductal in situ breast cancers of comedo type, PGRMC1 was expressed in glucose transporter 1 negative or positive poorly oxygenated cells surrounding the necrotic core, surrounded by a more distal halo of ER-positive cells.

comedo


Input: Changed expression of brain CMKLR1 is suggested to be involved in the mechanism of depression.

depression

depression


Input: Results showed that sevoflurane attenuated the hypoxia-induced VEGF level without altering the HIF-1α after exposure for 24 and 72 h. Sevoflurane increased the DNA methylation of the VEGF promoter region.

VEGF

hypoxia


Input: Unlike the results for schizophrenia and bipolar disorder, the increase in TDO2 protein in the major depression group was not associated with an increase in kynurenine concentration.

schizophrenia

schizophrenia


Input: We investigated the change of insulin resistance and inflammation in eWAT in P-selectin glycoprotein ligand-1 (PSGL-1) homozygous knockout (PSGL-1 ⁻ (/) ⁻) mice compared with wild-type (WT) mice fed HFD.

insulin resistance


Input: To knock down hepatic GnT-V expression, adenovirus that expressed the GnT-V siRNA was injected via the tail vein.

GnT-V

adenovirus


Input: These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.

Noonan syndrome

Noonan syndrome


Input: Transgenic mice overexpressing reticulon 3 develop neuritic abnormalities.

reticulon 3

abnormalities


Input: Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.

Glucocorticoid Resistance

Glucocorticoid Resistance


Input: Overexpression of wild-type SIRT6 but not its catalytically inactive mutant, attenuated AngII-induced cardiomyocyte hypertrophy.

cardiomyocyte hypertrophy


Input: In contrast, p38 pathway inhibitor SB203580 obviously promoted the dissociation of Nrf2 from Keap1 to promote antioxidant gene transcription.

dissociation


Input: Annual incidence of major bleeding in antithrombin-, protein C-, or protein S-deficient relatives on anticoagulants was 0. 29% (95% CI, 0. 03-1. 04).

protein C

bleeding


Input: The aim of this study is to test the hypothesis that genetic variants of LPL and serum lipid levels are associated with the risk of childhood obesity.

LPL

childhood obesity


Input: Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

leukoencephalopathy with vanishing white matter

leukoencephalopathy with vanishing white matter


Input: Taken together, these results suggest that cigarette smoke exposure impairs angiogenesis by inhibiting VEGF through decreased expression of HIF-1alpha in hypoxic conditions.

VEGF

hypoxic


Input: We further investigated effects of repeated intrathecal administration with Adenoviruses expressing CRTC1-small interfering RNA (siRNA) on nociceptive behaviors and on the upregulation of CREB/CRTC1-target genes associated with bone cancer pain.

cancer pain


Input: Thus, aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer.

breast cancer

breast cancer


Input: Here, we studied a rat model of mild-to-moderate SAH intended to minimize ischemia/hypoxia to examine the role of sulfonylurea receptor 1 (SUR1) in the inflammatory response induced by SAH.

SAH

hypoxia


Input: In cultured tumor lines, co-infection with both Ad Flk1-Fc and dl922/947 allowed replication and repackaging of the replication-deficient Ad Flk1-Fc and enhanced soluble VEGF receptor expression.

co-infection


Input: Here, we highlight how recent studies analyzing function and expression of these channels in the kidney improve our mechanistic understanding of TRP channel function in general and pave the way to new, promising therapeutic strategies to target kidney diseases such as FSGS and hypomagnesemia with secondary hypocalcemia.

TRP

hypomagnesemia with secondary hypocalcemia


Input: Both vascular endothelial growth factor a (VEGFa) and matrix metalloproteinases 2 (MMP2) are essential for cancer neovascularization and cancer invasion in that they promote endothelial mitogenesis and permeability, and promote extracellular matrix degradation, respectively.

neovascularization


Input: Effects of G250 promoter controlled conditionally replicative adenovirus expressing Ki67-siRNA on renal cancer cell.

adenovirus


Input: In a 12-O-tetradecanoylphobol 13-acetate (TPA)-induced mouse model, mice ears treated with Tat-BLVRA protein showed decreased ear thickness and weight, as well as inhibited MAPKs activation and cytokine expression.

BLVRA

weight


Input: In addition, hypoxia-driven VEGF expression in NSCLC cells was SP-1-dependent, with hypoxia increasing SP-1 activity and binding to the VEGF promoter.

VEGF

hypoxia


Input: In contrast, neither the t (11; 18) (q21; q21) translocation nor other MALT1 gene translocations could be demonstrated.

MALT1 gene

translocation


Input: We analyzed the EYA4 methylation status and found EYA4 promoter methylation in CRC cell lines (100%), CRC tissues (93. 5%) and advanced adenoma tissues (50. 7%), compared with normal mucosa (32. 6%).

adenoma


Input: The data obtained in the present study suggest that, through the inhibition of the p53-MDM2 interaction, adenovirus delivery of RPL23 can inhibit the proliferation of gastric cancer cells harboring wt p53 in vitro and in vivo.

gastric cancer


Input: Variants predicted to affect transcription factor binding, splicing, and DNA methylation in WNT3A, PCSK5, TCF4, MKKS, GLI2, HOXD12, and BMP4 were associated with anorectal atresia based on a nominal P value < 0. 05.

atresia


Input: Histidine-rich glycoprotein (HRG) is a 75-kDa heparin-binding plasma protein implicated in the regulation of tumor growth and vascularization.

HRG

vascularization


Input: Confirming the oncogenic effects of the fusion protein, subcutaneous implantation of NUP160-SLC43A3-expressing fibroblasts induced tumors resembling human angiosarcoma.

tumors


Input: Our results indicate that XPD may play an important role in cell apoptosis of hepatoma by inducing an over-expression of p53, but suppressing expressions of c-myc and cdk2.

hepatoma


Input: Several of the families, in which no mutations are found, also do not show linkage with the MLC1 locus, which suggests a second gene involved in MLC.

MLC

MLC


Input: Deletions of the long arm of chromosome 18 (18q21) (q32; q13. 1) activate the BCL-2 oncogene, while the translocation t (14; 19) (q32; q13. 1) activates the BCL-3 oncogene.

translocation


Input: The CXC chemokines, IP-10/CXCL10 and IL-8/CXCL8, play a role in obstructive lung disease by attracting Th1/Tc1 lymphocytes and neutrophils, respectively.

obstructive lung disease


Input: The aim of our study was to investigate whether gene transfer of alpha-melanocyte-stimulating hormone (alpha-MSH), a potent anti-inflammatory peptide, could prevent fulminant hepatic failure in mice.

alpha-melanocyte-stimulating hormone

fulminant hepatic failure

alpha-melanocyte-stimulating hormone

fulminant hepatic failure


Input: The expressions of three previously reported gene fusion transcripts, including HMGA2/LPP, HMGA2/RDC1 and HMGA2/NFIB, were analyzed in 102 tumors from patients with lipomas.

lipomas


Input: Phosphorylation of Oct4 by Akt resulted in dissociation of Oct4 from the AKT1 promoter, which activated AKT1 transcription and promoted cell survival.

dissociation


Input: Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.

SPARC

monoclonal gammopathy of undetermined significance


Input: Associations between oxaliplatin-induced peripheral neuropathy and polymorphisms of the ERCC1 and GSTP1 genes.

peripheral neuropathy

peripheral neuropathy


Input: Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.


Input: Orexigenic actions mediated by neuropeptide-Y (NPY) promote body weight regulation.

NPY

body weight


Input: In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2.

11 beta HSD2

apparent mineralocorticoid excess

11 beta HSD2

apparent mineralocorticoid excess


Input: Our observations suggest that inactivation of the E-cadherin gene occurs only in a subset of diffuse-type gastric cancers, as the majority of cases did not contain genetic alterations or identifiable protein abnormalities.

E-cadherin

abnormalities


Input: We have therefore re-investigated the original Guttmacher syndrome family, and have found that affected individuals are heterozygous for a novel missense mutation in the HOXA13 homeobox (c. 1112A & gt; T; homeodomain residue Q50L), which arose on an allele already carrying a novel 2-bp deletion (-78-79delGC) in the gene' s highly conserved promoter region.

Guttmacher syndrome

Guttmacher syndrome


Input: We have hypothesized that the human TREK-1 channel is involved in myometrial relaxation during pregnancy and that splice variants of the TREK-1 channel expressed in preterm myometrium are associated with preterm delivery by interaction with full-length TREK-1.

preterm delivery


Input: Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann' s corneal dystrophy.

keratin 12

Meesmann' s corneal dystrophy

keratin 12

Meesmann' s corneal dystrophy


Input: Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5.

connective tissue disorder

connective tissue disorder


Input: These results indicate that the LAD1v syndrome is caused by truncating mutations in FERMT3.


Input: While PKCepsilon activation can induce acute hyperalgesia in the IB4 (+) population, it fails to induce priming.

PKCepsilon

hyperalgesia

PKCepsilon

hyperalgesia


Input: The present study investigated for the first time by dual-colour fluorescence in situ hybridization (FISH) on interphase nuclei and immunohistochemistry the prevalence of the t (6; 14) translocation and cyclin D3 immunoreactivity (IR) in a series of 29 stage I-IIE primary gastric NHLs (PGLs).

cyclin D3

translocation


Input: Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS).

NS

NS


Input: Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

glucose-galactose malabsorption

glucose-galactose malabsorption


Input: To address this issue, we PCR-amplified BCL2-IgH from fluorescence-activated cell sorting (FACS)-purified BM CD34 + and CD34-fractions in seven FL patients showing a PCR-detectable translocation in the major breakpoint region of BCL2, five of which showed morphological BM involvement.

translocation


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

anxiety

anxiety


Input: The LDL-C GRS, but not HDL-C or TG GRS, was significantly associated with presence of aortic valve calcium in CHARGE (odds ratio [OR] per GRS increment, 1. 38; 95% CI, 1. 09-1. 74; P =. 007) and with incident aortic stenosis in MDCS (HR per GRS increment, 2. 78; 95% CI, 1. 22-6. 37; P =. 02; aortic stenosis incidence: 1. 9% and 2. 6% in lowest and highest GRS quartiles, respectively).

GRS

aortic stenosis


Input: Cannabinoids suppress the maintenance of vincristine-induced mechanical allodynia through activation of CB1 and CB2 receptors.

mechanical allodynia

mechanical allodynia


Input: The t (12; 21) translocation leads to the expression of a novel fusion gene, TEL-AML1 (ETV6-RUNX1), and HeH often involves tri-and tetrasomy for chromosome 21.

translocation


Input: The highest expression of CCR2 mRNA was showing at 24 h after HIBD, of which the level was significantly higher in hypoxic-ischemic (HI) cerebral hemisphere than in control (P < 0. 05).

hypoxic


Input: Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density: a cross-sectional study.

mammographic density


Input: Total TF and PAR-2 expression were significantly higher in ectopic and eutopic endometrium of women with endometriosis when compared with controls.

PAR

endometriosis


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: The secreted wild-type VEGF facilitated the growth of endothelial cells more efficiently under hypoxic conditions than normoxic conditions.

VEGF

hypoxic


Input: Moreover, Notch1 expression in sporadic Alzheimer disease hippocampus is elevated more than 2-fold in comparison to that in control human hippocampus by both immunohistochemistry and Western blot analysis (p < 0. 007).

sporadic


Input: ARFGEF2 encodes the large (> 200 kDa) brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is required for vesicle and membrane trafficking from the trans-Golgi network (TGN).

vesicle


Input: Associations between survival among 61 glioblastoma multiforme patients and expression of E2F1 and hTERT mRNA and protein were examined with Kaplan-Meier analysis, the log-rank test, and Cox proportional hazards regression models.

regression


Input: In chronic lymphocytic leukaemia (CLL) expression of bcl-2 protein is increased but rearrangement of the gene can be found only in a minority of cases: commonly a variant translocation with a breakpoint region located 5' of the bcl-2 gene (vcr) with preferential rearrangement to immunoglobulin light chain genes.

bcl-2 gene

translocation


Input: When PBSC were obtained from patients with seminoma and lung cancer, treated with the CD4 (-)-LAK for 12 h and the CD34 + cells were isolated, colony formation (CFU-GM) by these cells was preserved.

seminoma


Input: The results indicate that TGF-β1-dependent IGF-IEc expression and MGF production in patients with fibrostenotic Crohn' s disease regulates smooth muscle cell hypertrophy a critical factor that contributes to intestinal stricture formation.

MGF

intestinal stricture


Input: We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1.

YWHAE

overgrowth


Input: Their preferential emergence over virus-infected normal B cells may be coupled to the high expression of the bcl-2 gene due to the translocation.

bcl-2 gene

translocation