Input: DRA expression does not appear to be strictly associated with colonic cell differentiation; rather, its absence and down-regulation were associated with the proliferating component of the crypt epithelium and with neoplastic transformation, respectively.

DRA

neoplastic transformation


Input: From microarray analysis, an empirically-derived HNF1B signature was significantly enriched for computationally-predicted targets (with HNF1 binding sites) (P < 0. 03), as well as genes associated with glycogen metabolism, including glucose-6-phophatase, and strikingly the blood clotting cascade, including fibrinogen, prothrombin and factor XIII.

fibrinogen


Input: Multivariate analyses were used to assess the potential mediating role of NS personality traits in the association between COMT gene variants and the age of onset of heroin use.

COMT gene

personality traits


Input: EML4-ALK fusion gene examinations could be more effectively performed by selecting young NSCLC patients without EGFR mutations, whereas selection on the basis of a non-smoking or adenocarcinoma history, as reported in previous studies, may not correctly identify the patient groups with potential EML4-ALK fusion gene.

EGFR

smoking


Input: The significant prevalence of carriage of PLA2 in GP IIb/IIIa in women with RSA in first 20 wg was found with high risk or miscarriage (OR = 4. 32; 95% CI: 2. 10-8. 97, p < 0. 0001).

miscarriage


Input: All rats injected with alpha 3 (IV) NC1 and alpha 4 (IV) NC1 developed proteinuria and hematuria.

alpha 4

hematuria


Input: We indeed found that enforced expression of miR-199a-5p led to down-modulated expression of HIF-1α as well as of other pro-angiogenic factors such as VEGF-A, IL-8, and FGFb in hypoxic MM cells in vitro.

VEGF-A

hypoxic


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

stratifin

HCC

stratifin

HCC


Input: In paraneoplastic pemphigus (PNP), a rare variant associated with neoplasia, autoantibodies target proteins of the plakin family in addition to desmogleins 1 and 3.

PNP

paraneoplastic pemphigus


Input: Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

tissue non-specific alkaline phosphatase

seizures

tissue non-specific alkaline phosphatase

seizures


Input: The main aim of this work was to investigate cGMP and PKG signaling in pancreatic adenocarcinoma (PDAC) cells.

PKG

pancreatic adenocarcinoma


Input: On the other hand, silencing ASC in primary melanoma reduced cell death, increased cell viability, and enhanced tumorigenesis.

ASC

tumorigenesis


Input: To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i. e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI)-high tumors, or no evidence of linkage to MMR genes).

MMR

microsatellite instability


Input: Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma.

FHM

FHM


Input: To investigate the effects of Notch2 knockdown on U87 human glioma cell proliferation in vitro and in vivo, and the associated mechanisms, U87 cells were stably transfected with p green fluorescent protein (GFP)‑V‑RS Notch2 short hairpin (sh) RNA plasmid and pGFP‑V‑RS scramble‑shRNA plasmid.

glioma


Input: We used adenovirus-mediated PON1 gene transfer (AdPON1) to overexpress human PON1 in mice with combined leptin and LDL receptor deficiency, a model of metabolic syndrome.

adenovirus


Input: Currently, transgenic mice expressing wild-type or disease-causing mutants of LRRK2 have failed to produce overt neurodegeneration, although abnormalities in nigrostriatal dopaminergic neurotransmission have been observed.

abnormalities


Input: A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.

ATTR

transthyretin amyloidosis

ATTR

transthyretin amyloidosis


Input: This report is the first description of how a second hit to the APC gene can be involved in carcinogenesis of the jejunum in familial adenomatous polyposis.

APC gene

hit


Input: In addition, certain haplotypes within the ANKRD7 and cytokine-like1 (CYTL1) genes were significantly associated with regular drinking behavior, such as one ANKRD7 block composed of the SNPs rs6466686-rs4295599-rs12531086 (P = 6. 51 × 10 (-8)).

drinking behavior


Input: We genotyped FTO rs9939609 in 737 overweight adults in the 2-y Preventing Overweight Using Novel Dietary Strategies trial and assessed 4 appetite-related traits including cravings, fullness, hunger, and prospective consumption.

FTO

overweight


Input: To further elucidate the biochemical structure and significance of epiregulin expression in tumorigenesis, HKe3-stable transfectants expressing epiregulin (e3-pSE cells) were established.

epiregulin

tumorigenesis


Input: To evaluate whether further studies on the role of DRA in tumorigenesis are still of interest, we examined whether individuals carrying germline DRA mutations have an excess of intestinal cancer.

DRA

tumorigenesis


Input: Our aim was to determine how the chromosomal breaks involved in these events relate physically to the MYC gene; whether they map to the FRA8C site, the FRA8D site, or both; and how they correlate with the occurrence of DNA flexibility domains.

chromosomal breaks


Input: In addition, IL-17E induces G-CSF production in vitro and mIL-17E-transgenic mice had increased serum G-CSF and exhibit neutrophilia, a property shared by IL-17.

neutrophilia


Input: A cross-talk between hypoxia and TGF-beta orchestrates erythropoietin gene regulation through SP1 and Smads.

TGF-beta

hypoxia


Input: In the present work, the main purpose was to investigate perforin and granzyme B expression in liver biopsies of patients with chronic hepatitis (10 HBV, 14 HCV and 10 autoimmune hepatitis) using immunohistochemistry.

granzyme B

autoimmune hepatitis


Input: Furthermore, Pim1 overexpression, in combination with the hormone treatment, increased inflammation surrounding target tissues leading to pyelonephritis in transgenic animals.

pyelonephritis


Input: Megakaryocytes from essential thrombocythemia (ET) showed significantly lower levels of mutated JAK2 alleles compared to patients with chronic idiopathic myelofibrosis (cIMF) with manifest fibrosis and polycythemia vera (PV) but not to prefibrotic cIMF.

fibrosis


Input: Therefore, we examined the association between the-1021C/T DBH polymorphism and personality traits in 627 Japanese healthy volunteers.

DBH

personality traits


Input: To this end, we developed a Galleria mellonella larvae (wax worm) model of invasive GAS infection and used it to compare the virulence of serotype M3 GAS strains.

GAS

worm


Input: Most cases of CblC disease have a multisystemic disease with failure to thrive, developmental delay, hypotonia, visual impairment, and hematologic manifestations.

CblC

developmental delay


Input: In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain.

HCS

biotin deficiency


Input: Since PPARα activation impairs post-ischemic cardiac function in experimental models of DM, we tested whether decreased PPARA transcription in PPARA A carriers favorably impacted outcome after acute coronary ischemia in 705 patients hospitalized with acute coronary syndromes (ACS; 552 Caucasian, 106 African American).

PPARA

ischemia


Input: In this study histopathological and histochemical attributes for basement membrane and connective tissue in biopsies of oral sub-mucous fibrosis (n = 55) and normal oral mucosa (n = 16) were assessed and expressions of p63, E-cadherin, β-catenin, N-cadherin and TWIST were analyzed immunohistochemically.

N-cadherin

fibrosis


Input: Molecular analysis of a number of NF1-specific tumors has shown the inactivation of both NF1 alleles during tumorigenesis, supporting the tumor suppressor hypothesis for the NF1 gene.

NF1 gene

tumorigenesis


Input: Our data showed that the epithelial cell markers E-cadherin, epithelial membrane antigen, cytokeratin AE1/AE3, and pan-cytokeratin were often detected immunohistochemically in leiomyosarcoma tumor cells on tissue microarray.

epithelial membrane antigen

leiomyosarcoma


Input: Here we report the characterization of mutations in the btk gene of five unrelated XLA families.

btk

XLA

btk

XLA


Input: The most striking finding was the marked reduction of protein gene product 9. 5, synaptophysin and nerve growth factor receptor staining positive nerve fibers in the muscle layers of ureteropelvic junction obstruction compared to the normal ureteropelvic junction.

nerve growth factor receptor

ureteropelvic junction obstruction


Input: We assume that the LCNEC originated from the adenocarcinoma based on the fact that the patient was a non-smoking female, the tumor was located in the periphery, the tumor had a BAC component, and the same EGFR mutation was found in both the LCNEC and adenocarcinoma components.

EGFR

smoking


Input: We conclude that CT-1 is a master regulator of fat and glucose metabolism with potential applications for treatment of obesity and insulin resistance.

insulin resistance

insulin resistance


Input: Two hours after the alteplase application, the thrombus was not detectable.

alteplase

thrombus

alteplase

thrombus


Input: We combined the previously described Notch1 intramembrane proteolysis-Cre (Nip1:: Cre) allele with a floxed Notch1 allele to create a mouse model for sporadic, low-frequency loss of Notch1 heterozygosity.

sporadic


Input: Resuscitated shock primed the lungs for an increased tissue factor and plasminogen activator (PA) inhibitor-1 gene expression in response to LPS, while the fibrinolytic PA was reduced.

tissue factor

shock


Input: Transgenic mice expressing alpha (2A)-adrenoceptors under control of the dopamine beta-hydroxylase (Dbh) promoter were generated and crossed with mice carrying a constitutive deletion in the alpha (2A)-and alpha (2C)-adrenoceptor genes. alpha (2AC)-deficient mice showed increased norepinephrine plasma levels, cardiac hypertrophy, and fibrosis at baseline.

alpha (2C)-adrenoceptor

fibrosis

alpha (2C)-adrenoceptor

fibrosis


Input: This is the first report on the molecular mechanism of combined treatment of human neuroblastoma UKF-NB-3 and UKF-NB-4 cells with these compounds.

neuroblastoma


Input: Results from mismatch-repair immunohistochemistry (MMR-IHC) and microsatellite instability (MSI) phenotype status were documented, and detailed pedigrees were analyzed to determine whether previously proposed clinical criteria would have selected these patients for genetic testing.

MMR

microsatellite instability


Input: This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.

ICE

lung disease


Input: We also determined DNA ploidy status (diploid or aneuploid), S-phase fraction (< 6% = low, 6-10% = intermediate, > 10% = high), and telomerase activity (total protein generated by TRAP assay).

TRAP

aneuploid


Input: PTEN and p27 were always highly expressed in non-neoplastic lung whereas Cks1 and Skp2 were not expressed in normal tissue.

non-neoplastic


Input: PTPRS loss promoted EGFR/PI3K pathway activation, modulated resistance to EGFR inhibition, and strongly determined survival in lung cancer patients with activating EGFR mutations.

PTPRS

lung cancer


Input: In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.

tremor


Input: We conducted this study to explore forced RECK expression in the highly invasive T98G human GBM cell line.

RECK

GBM

RECK

GBM


Input: These results reveal an essential role of MKK7 in cardiomyocytes for protecting the heart from hypertrophic insults thereby preventing the transition to heart failure.

heart failure

heart failure


Input: The orphan cotransport protein expressed by the SLC5A8 gene has been shown to play a role in controlling the growth of colon cancers, and the silencing of this gene is a common and early event in human colon neoplasia.

colon cancers

colon cancers


Input: Tubules within the areas of granuloma showed a six-fold increase in MIF mRNA, compared with uninvolved areas by in situ hybridization.

MIF

granuloma


Input: This report provides compelling evidence that the primary mechanism of biliary copper excretion involves ATP7B-mediated vesicular sequestration of copper rather than direct copper translocation across the canalicular membrane.

translocation


Input: Tachykinin receptor 1 variants associated with aggression in suicidal behavior.

Tachykinin receptor 1

aggression


Input: Both biopsied tissues were negative for microsatellite instability, and expressed MLH1, MSH2, PMS2, MSH6, and MLH3 immunohistochemically.

microsatellite instability


Input: The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes.

vWD

vWD

vWD

vWD


Input: In addition, small interference RNA (siRNA)-triggered endogenous beta-TrCP1 suppression increased the protein expression level of both overexpressed SMAD4 mutants and endogenous mutated SMAD4 protein in acute myelogenous leukemia cells.

acute myelogenous leukemia


Input: Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II.

complement factor H

membranoproliferative glomerulonephritis type II

complement factor H

membranoproliferative glomerulonephritis type II


Input: These results demonstrate that early pretreatment administration of a KDR kinase inhibitor elicited an early, transient decrease in edema and subsequent reduction in infarct volume, implicating VEGF as a mediator of stroke-related vascular permeability and ischemic injury.

VEGF

infarct


Input: MStF responses were statistically associated with the presence of HLA DR1 antigens in patients with renal failure and two separate groups of healthy individuals, while MIF responses were associated with DR7 in the three groups studied.

renal failure


Input: Antibiotics abolished the effect of hPepT1 overexpression on the inflammatory response in DSS-induced colitis in β-actin-hPepT1 and villin-hPepT1 transgenic mice, indicating that commensal bacteria are required to aggravate intestinal inflammation.

β-actin

inflammation


Input: The frequency of FVL G1691A and ACE D allele in T2DM patients with microalbuminuria were 1. 6 and 57%, respectively and in normoalbuminuric T2DM patients were 4. 9 and 58. 3%, respectively (P > 0. 05).

ACE

microalbuminuria


Input: These results demonstrate that melusin overexpression allows prolonged concentric compensatory hypertrophy and protects against the transition toward cardiac dilation and failure in response to long-standing pressure overload.

melusin

dilation


Input: Expression of cyclin H protein, detected by western blotting of hippocampal tissue, was increased after global ischemia, but expression of cyclins B1 and D1 and other related cell cycle genes (Cdk7 and Cdc2) was not increased.

ischemia


Input: Therefore, the aim of the present study was to investigate the association between IL-8-251 A/T and CXCR2 + 1208 C/T gene polymorphisms and susceptibility to multiple sclerosis (MS).

T gene

multiple sclerosis


Input: In this context, mucin 1 (MUC1) overexpression and hypoxia are frequently observed events.

hypoxia


Input: HLJ1 expression inhibited lung cancer cell proliferation, anchorage-independent growth, tumorigenesis, cell motility, and invasion, and slowed cell cycle progression through a novel STAT1/P21 (WAF1) pathway that is independent of P53 and interferon.

tumorigenesis


Input: Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.

atrophy


Input: These results indicate that PAK6 contributes to PCa development and progression after androgen deprivation therapy, and that it may play roles in the regulation of motility and in stress responses.

PCa

PCa


Input: Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

fukutin

Fukuyama congenital muscular dystrophy

fukutin

Fukuyama congenital muscular dystrophy


Input: Evidence for an association between the HTR1B gene and ADHD as a qualitative diagnosis, or the inattentive and hyperactive-impulsive quantitative traits was not supported by either TDT single marker analysis or haplotype analysis.

TDT

inattentive


Input: Similarly, we found that HMGA1a and COX-2 are overexpressed in human leiomyosarcomas, a highly malignant uterine cancer.

leiomyosarcomas

leiomyosarcomas


Input: To evaluate ApoE alleles in relation to symptoms of depression in a cohort of patients with MS participating in the Sonya Slifka Longitudinal Multiple Sclerosis Study (Slifka Study).

Multiple Sclerosis

symptoms of depression

Multiple Sclerosis

symptoms of depression


Input: Stress and heat shock proteins such as HSP90, HSP70 and HSP27 are induced in response to a wide variety of physiological environmental insults including heat, reactive oxygen species or anticancer drugs.

shock


Input: CD4 T cells from 22 subjects treated with FVIII products having sequences at residues FVIII-484, 1241, and 2238 differing from those of putative proteins encoded by their F8 genes did not show high-avidity tetramer binding, whereas positive-control staining of tetanus-specific CD4 T cells was routinely successful.

FVIII

tetanus


Input: We concluded that bioactive IL-12 and IL-18 were produced in sarcoid BAL fluid cells and synergistically induced IFN-gamma production, indicating important cytokines in the Th1 response of sarcoidosis.

sarcoidosis


Input: By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.

AFP

pleomorphic adenoma


Input: In addition, we tested a subset of treatment regimens in three breast cancer models representing distinct breast cancer subtypes: claudin-low (T11 OST), basal-like (C3-TAg GEMM), and luminal B (MMTV-Neu GEMM).

OST

breast cancer


Input: Further studies should examine the effects of antidepressant treatments upon EAAT2 expression in rodent models of depression to further elucidate the underlying molecular mechanisms.

depression

depression


Input: Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150 (Glued) (DCTN1).

Perry syndrome

Perry syndrome


Input: In SU-DHL-6 the t (14; 18) translocation juxtaposes a truncated bcl-2 gene with J6 in a tail-to-head configuration, resulting in the deregulated expression of chimeric bcl-2/Ig transcripts.

translocation


Input: These results support our previous hypothesis that OFMT might represent a translocation-associated tumor, underscore the likely importance of PHF1 rearrangements in the pathogenesis of these lesions, confirm the relationship between typical and malignant OFMT, and suggest a role for PHF1 FISH in the diagnosis of morphologically challenging cases.

translocation


Input: Our case has phenotypic features of both JATD and axial SMD; and the extent of thoracic involvement appears more severe than in other C21orf2-positive cases.

axial SMD

axial SMD


Input: To determine the roles of tumor-derived IL-35 in tumorigenesis and tumor immunity, we generated IL-35-producing plasmacytoma J558 and B16 melanoma cells and observed that the expression of IL-35 in cancer cells does not affect their growth and survival in vitro, but it stimulates tumorigenesis in both immune-competent and Rag1/2-deficient mice.

plasmacytoma


Input: An inbred strain of transgenic mice that expressed a mutated gene for type I procollagen and that developed spontaneous fractures was used to study the effects of age on the phenotype of fragile bones.

type I procollagen

spontaneous fractures


Input: Moreover, plasma PDCD5 levels were also inversely correlated with C-reactive protein and erythrocyte sedimentation rate.

erythrocyte sedimentation rate


Input: Hb Lulu Island [beta 107 (G9) Gly--> Asp] was discovered in an East Indian female who carried a common beta zero-thalassemia allele, i. e., codon 15, TGG--> TAG (is a stop codon) in trans.

TAG

thalassemia


Input: These findings further validate the importance of MECP2 mutation screening in parents of all mutation positive patients and careful evaluation of the pathogenicity of the mutation found in asymptomatic carriers before providing genetic counseling to the family.

asymptomatic


Input: The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).

3-hydroxyacyl-CoA dehydrogenase

blood spots


Input: NQO1 knockout (KO) mice showed hyperglycemia, body weight loss, impaired glucose clearance rate and a lower plasma insulin level after MLDS treatment.

hyperglycemia

hyperglycemia


Input: SKA2 methylation levels also predicted higher rates of current suicidal thoughts and behaviors, even after including well-established psychiatric risk factors for suicide in the model.

suicidal thoughts


Input: We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼ 114 Kb in the 14q11. 2 chromosomal region, involving the SUPT16H, CHD8, and RAB2B genes.

facial dysmorphism


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

keratin 12

Meesmann corneal dystrophy

keratin 12

Meesmann corneal dystrophy


Input: In addition, the endothelial cells in angiolipoma and angioleiomyoma, but not in venous lake, expressed CTGF mRNA.

CTGF

angiolipoma


Input: Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

MIM

partial lipodystrophy


Input: These observations indicate that hypoxia is a key factor in determining NSC tropism to glioma and that SDF-1/CXCR4, uPA/uPAR, VEGF/VEGFR2, and hepatocyte growth factor/c-Met signaling pathways mediate increased NSC-to-glioma tropism under hypoxia.

VEGF

hypoxia


Input: We examined whether single nucleotide polymorphisms (SNP) of the matrix metalloproteinase 9 (MMP-9) and tissue inhibitor of metalloproteinase 4 (TIMP-4) genes are associated with risk of intracranial hemorrhage (ICH) among patients with brain arteriovenous malformation (BAVM).

tissue inhibitor of metalloproteinase 4

arteriovenous malformation


Input: UBC with HER2 amplification presented with a broad variety of histological variants (median 2 vs. 1), frequently featured micropapillary tumor components (77% vs. 8%) and demonstrated a high amount of tumor associated inflammation.

UBC

inflammation


Input: Linomide is unable to inhibit either basal or hypoxia-induced secretion of VEGF.

VEGF

hypoxia


Input: Serum levels of interleukin-8, RANTES, and monocyte chemoattractant protein-1 were measured in 36 cystic fibrosis patients grouped according to their genotype.

monocyte chemoattractant protein-1

cystic fibrosis


Input: Treatment of mice with resveratrol and TRAIL alone inhibited angiogenesis (as demonstrated by reduced number of blood vessels, and VEGF and VEGFR2 positive cells) and markers of metastasis (MMP-2 and MMP-9).

TRAIL

metastasis

TRAIL

metastasis


Input: Transactive response DNA-binding protein 43 (TDP-43) is a major pathological protein in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).

DNA-binding protein

amyotrophic lateral sclerosis


Input: The present study was undertaken to investigate the function of protease-activated receptor (PAR) in endometriotic lesions using a mouse model of endometriosis.

PAR

endometriosis


Input: Our results have demonstrated significant differences in the concentrations of M-CSF, G-CSF, SCF (with the exception of GM-CSF), and CA 125 between the groups of ovarian cancer patients, cysts patients, and the healthy controls.

M-CSF

cysts


Input: Both frequency and type of EML4-ALK transcripts were investigated by reverse transcription PCR in 120 frozen NSCLC specimens from Italy and Spain; non-neoplastic lung tissues taken far from the tumor were used as controls.

non-neoplastic


Input: Decreased SST levels in MDD were confirmed at the protein precursor level.

SST

MDD

SST

MDD


Input: When GPI deficient erythrocytes increase in proportion, massive hemolysis occurs due to activated complement attack during infection.

GPI

hemolysis


Input: Genetic polymorphisms involved in insulin-like growth factor (IGF) pathway in relation to mammographic breast density and IGF levels.

IGF

mammographic breast density


Input: Plasminogen activator inhibitor-1 gene is associated with major depression and antidepressant treatment response.

Plasminogen activator inhibitor-1

major depression

Plasminogen activator inhibitor-1

major depression


Input: Our study established that a missense mutation in the PPO gene was the underlying mutation in this patient with VP and explained the occurrence of the phenotype in this family.

PPO

VP

PPO

VP


Input: Rapidly progressive renal fibrosis after a slimming regimen including Chinese herbs containing aristolochic acid (AA) has been identified as Chinese-herb nephropathy (CHN).

CHN

nephropathy


Input: SNCG mRNA was not expressed in the 10 non-neoplastic gastric mucosal tissues, although several CpGs were demethylated.

SNCG

non-neoplastic


Input: This was done in the same endemic area in which recently both non-random parental HLA-haplotype and preferential segregation of the HLA specificity LB-E12 (MB1, DC1, MT1) was demonstrated in lepromatous leprosy patients from multicase families.

lepromatous leprosy


Input: Stably expressing the Flag-tagged N-terminal sequence of bcl-2 protein, encompassing BH4 domain, we found that this domain is sufficient to enhance the proangiogenic HIF-1/VEGF axis under hypoxic condition.

VEGF

hypoxic


Input: Our results demonstrate that TGF-β regulating the CDC 25A in a Smad2 dependent way, translocates NFAT to nucleus and NFAT in co-operation with Smad2 promotes the tumor progression by upregulating the CDK2, CDK4, and cyclin E. This result signifies that TGF-β by regulating NFAT in different ways maintains the balance between EMT and cell proliferation mechanism concurrently during the late stage of breast cancer.

EMT

tumor progression


Input: The fibrillar collagen area, the protein expression of MMP2, MMP9 and the transcriptional level of MMP2, MMP9 mRNA in infarction zone reduced in MSC group, ACEI group, and MSC + ACEI group.

MSC

infarction


Input: Hb Johnstown [beta109 (G11) Val--> Leu], a high oxygen affinity hemoglobin (Hb) variant associated with beta0-thalassemia (thal) [IVS-I-1 (G--> A)], was identified in an 8-year-old girl referred to our laboratory because of erythrocytosis and a left-shifted oxygen dissociation curve (ODC).

ODC

thalassemia


Input: Association between demographic and pathologic variables EGFR TKI response, time to treatment failure (TTF) and overall survival (OS) was examined using logistic regression and proportional hazards regression.

TTF

regression


Input: The levels of LDL-C, ApoB and ApoA1/ApoB (ABCA-1); HDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TC, HDL-C, ApoA1 and ApoB (LIPG); TC, TG, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); TC, TG and ApoB (MYLIP); TG (PCSK9); TG, ApoA1 and ApoB (PPARD); and TC, HDL-C, LDL-C, ApoA1 and ApoB (SCARB1) in overweight/obese subjects were different among the genotypes (P < 0. 01-0. 001).

overweight


Input: IKBB tumor suppressive role in nasopharyngeal carcinoma via NF-κB-mediated signalling.

IKBB

tumor


Input: We selected an appropriate subset of variants for the investigation of common genetic risk factors and assessed SMAD1 to SMAD5 genes for association with diabetic nephropathy.

diabetic nephropathy


Input: Folate deprivation enhances invasiveness of human colon cancer cells mediated by activation of sonic hedgehog signaling through promoter hypomethylation and cross action with transcription nuclear factor-kappa B pathway.

sonic hedgehog

colon cancer


Input: The new dramatic phenotype, which we named " lethal acantholytic epidermolysis bullosa, " underscores the paramount role of DP in epidermal integrity.

DP

lethal acantholytic epidermolysis bullosa

DP

lethal acantholytic epidermolysis bullosa


Input: Tyrosine phosphorylation and activation of the c-kit product with the ligand for c-kit (stem cell factor: SCF) results in proliferation of some human leukemia cell lines, such as M07E, and blast cells in a substantial fraction of AML cases.

SCF

leukemia


Input: Here, we compared the effect of aspirin (ASA) and so called " safe " nitric oxide (NO) derivative of ASA with those of non-selective and selective cyclooxygenase (COX)-1 and COX-2 in rat model of reflux esophagitis.

COX

reflux esophagitis


Input: Metastases of the human melanoma cell line Mel57, engineered to express recombinant VEGF-A (165), showed accelerated growth in a combined expansive and infiltrative pattern with marked central necrosis.

VEGF-A

necrosis


Input: We examined the levels of total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, vascular cell adhesion molecule 1, intercellular adhesion molecule 1, E-selectin, HbA1c, microalbuminuria (MAU), hs-CRP and carotid intima-media thickness.

CRP

microalbuminuria


Input: In addition, Tff1-knockout (KO) and Tff1-wild-type mice were used for infections with the H. pylori strain called premouse Sydney strain 1.

infections


Input: We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27).

shock


Input: Besides, RASA1 was also decreased in the hypoxia HCC cells while the inhibition of miR-182 partially restored the level of RASA1.

hypoxia


Input: These data suggest functional abnormalities of circulating pDCs and mDCs that could be important for immunomodulation after SAH.

SAH

abnormalities


Input: Recent studies have indicated that several specific mechanisms of MDR may be involved in clinically refractory multiple myeloma patients, such as expression of P-glycoprotein (P-gp), expression of the lung-resistance protein (LRP) and suppression of apoptosis via expression of Bcl-2.

P-gp

refractory multiple myeloma


Input: A total of 499 estrogen receptor-positive primary breast tumor specimens of advanced disease patients treated with first-line tamoxifen were genotyped for CYP2C19 * 2 and * 17 variant alleles, with primary end point time-to-treatment failure (TTF).

TTF

breast tumor


Input: This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS.

PPS

PPS


Input: hMSH2 is one of MMR genes involved in the correction of mispairing during replication and its mutations are associated with both--microsatellite instability and the hereditary and sporadic colon tumourgenesis.

MMR

microsatellite instability


Input: Recurrent infections, asthma-like chronic reactive airway disease, hyperimmunoglobulins, hepatosplenomegaly with mildly elevated aspartate transaminase (AST), anemia, and thrombocytopenia were common and massive imidodipeptiduria was universal.

AST

reactive airway disease


Input: In premalignant Eμ-Myc transgenic mice deficient in Smchd1, there was an increase in the number of pre-B cells in the periphery, likely accounting for the accelerated disease in these animals.

premalignant


Input: Histopathological and behavioral alterations were evaluated via immunohistochemistry and the ration test, respectively, in rats transplanted with NSCs with or without the Ad-NURR1 adenovirus.

adenovirus


Input: Nectin-like molecule 1 inhibits the migration and invasion of U251 glioma cells by regulating the expression of an extracellular matrix protein osteopontin.

Nectin

glioma


Input: Both immunoblastic lymphomas revealed monoclonal or aberrant B cells by FCI; 1 revealed a BGR.

BGR

lymphomas


Input: Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.

autoimmunity

autoimmunity


Input: Actively immunised Brown Norway rats received ovalbumin inhalation with or without treatment of anti-MIF Ab.

MIF

inhalation


Input: The postprandial response in feelings of hunger was characterized by an SNP-SNP interaction involving SNPs in LEPR and NPY2R (668A > G and 585T > C, P < 0. 05).

LEPR

hunger


Input: The 15q24 microdeletion may thus represent the first genetic hit to initiate leukaemogenesis and implicates PML and SUMO3 as novel components of the leukaemogenic network in TMD/AMKL.

hit


Input: We previously demonstrated that the transcription factor NF-E2-related factor2 (Nrf2), expressed abundantly in non-small-cell lung cancer (NSCLC) cells, plays a pivotal role in the proliferation and chemoresistance of NSCLC.

lung cancer


Input: Extracts from primary human tumors demonstrated more ATF-4 expression in tumors near necrotic areas.

necrotic

necrotic


Input: The STP mice could be a suitable animal model for interrogating the transition of chronic pancreatitis to pancreatic cancer.

STP

chronic pancreatitis


Input: SH2B1 rs7359397 was also associated with homeostasis model assessment of insulin resistance in the Meta-Analyses of Glucose and Insulin-related traits Consortium data set (P = 3. 9 × 10 (-3)).

insulin resistance


Input: Our findings demonstrate that excessive infiltration of CD4 + and CD8 + T cells in nasal polyps may be associated with expression of Foxp3 + by Tregs but not with SAEs in Chinese patients.

nasal polyps


Input: Monocyte chemoattractant protein-1 induces a novel transcription factor that causes cardiac myocyte apoptosis and ventricular dysfunction.

Monocyte chemoattractant protein-1

ventricular dysfunction


Input: Diagnostic strategies for selection of patients for MMR gene analysis include analysis of microsatellite instability (MSI) and immunohistochemical (IHC) analysis of MMR proteins in tumor tissue.

MMR

microsatellite instability


Input: These findings indicate that miR-7 functions as a tumor suppressor and plays a substantial role in inhibiting the tumorigenesis and reversing the metastasis of HCC through the PI3K/Akt/mTOR-signaling pathway in vitro and in vivo.

tumorigenesis


Input: In contrast, germ-line msh6 mutations were not found in any of the 45 sporadic cases and the 4 HNPCC cases in the population-based series or in the second series of 58 clinic-based, primarily HNPCC families.

sporadic


Input: Clinical charts and histologic review, neuroblastoma RAS viral (v-ras) oncogene homolog genotyping, and immunohistochemistry for HMB-45, BRAFV600E, phosphorylated extracellular signal-regulated kinase (pERK), phosphorylated protein kinase B, CD4, and CD8 were performed on 19 melanocytic nevi from 10 patients and 23 control nevi.

nevi


Input: This review focuses on members of the TRPC3/6/7 group of TRPC proteins, revises current knowledge on their expression and regulation in endothelium, and discusses their role in cardiovascular disease as it relates to endothelial dysfunction.

cardiovascular disease


Input: Besides hypoxia, many cytokines, hormones and growth factors can up-regulate VEGF mRNA expression in various cell types.

VEGF

hypoxia


Input: Dysfunction of the Golgi human secretory pathway Ca2 +-ATPase hSPCA1, encoded by ATP2C1, abrogates Ca2 + signaling and causes the acantholytic genodermatosis, Hailey-Hailey disease.

genodermatosis


Input: We found that expressions of HtrA1 mRNA and protein in ESCC tissues and cells were significantly lower than those in normal esophageal epithelial tissues and cells (P < 0. 05).

esophageal


Input: To see whether APOBEC3B is overexpressed in other common cancers at the protein level, we investigated APOBEC3 protein expression in 100 gastric, 103 colorectal and 107 prostate cancer tissues as well as in 10 breast cancers by immunohistochemistry using antibody that could detect APOBEC3B, APOBEC3F and APOBEC3D proteins.

cancers


Input: We report the case of a 22-year-old woman with APL carrying a complex variant translocation t (5; 17; 15) (q11; q12; q22) confirmed by G-banding, reverse transcription polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and spectral karyotyping analysis (SKY).

SKY

translocation


Input: Our results demonstrate for the first time that 5-HT2B receptors are essential for isoproterenol-induced cardiac hypertrophy, which involves the regulation of interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha cytokine production by cardiac fibroblasts.

cardiac hypertrophy

cardiac hypertrophy


Input: Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

tyrosinase

tyrosinase-related) oculocutaneous albinism

tyrosinase

tyrosinase-related) oculocutaneous albinism


Input: The t (12; 21) translocation is present in up to 30% of childhood B-cell acute lymphoblastic and fuses a potential dimerization motif from the ets-related factor TEL to the N terminus of AML1.

translocation


Input: IL-17A and IL-17F induced a molecular pattern characterised by 27 inflammation-related genes for IL-17F and 165 for IL-17A.

inflammation


Input: VEGF induction in the tumor periphery is mainly triggered by TGF-beta1, whereas VEGF expression in perinecrotic areas is regulated by both hypoxia and TGF-beta1.

VEGF

hypoxia


Input: Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

chronic cough


Input: In addition to age older than 10 years (odds ratio [OR], 24. 2; P =. 0001) and white race (OR, 11. 1; P =. 037), host factors for osteonecrosis included the vitamin D receptor FokI start site CC genotype (OR, 4. 5; P =. 045), and the thymidylate synthase low activity 2/2 enhancer repeat genotype (OR, 7. 4; P =. 049).

thymidylate synthase

osteonecrosis


Input: To investigate the prognostic significance of p21 (WAF1/CIP1) expression and its relationship with p53 accumulation and other apoptotic markers such as Bax, Bcl-2, and apoptotic index in relation to disease-specific survival in oral tongue squamous cell carcinoma (SCC).

tongue squamous cell carcinoma


Input: These data suggest that overexpression of ErbB2 in acinar cells leads to increased RAS activity without cell cycle progression and mediates inflammation via NF-kappaB.

inflammation


Input: Although high-dose chemotherapy (HDC) represents the standard of treatment for high-risk neuroblastoma (NBL), the most effective conditioning regimen still remains to be identified.

HDC

high-risk neuroblastoma


Input: OBJECTIVES: The purpose of the study was to detect the expression of SNCG, MAP2, SDF-1 and CXCR4 in gastric adenocarcinoma, and to evaluate their roles in the carcinogenesis of gastric adenocarcinoma, development, invasion and metastasis as well as their clinical significance.

SNCG

gastric adenocarcinoma


Input: The simultaneous analysis of telomere length and cell surface antigen by multicolor flow-FISH may monitor abnormal clone or clonal evolution to predict recurrence more sensitively and specifically, and may provide a promising and widely applicable method for monitoring MRD in leukemia.

FISH

leukemia


Input: Although p27Kip1 (p27) is a cyclin-dependent kinase inhibitor and a contribution to tumorigenesis has been hypothesized, the possible role in tumours arising in the nasal and paranasal sinus regions is still unknown.

tumorigenesis


Input: Association of the serotonin transporter and 5HT1Dbeta receptor genes with extreme, persistent and pervasive aggressive behaviour in children.

serotonin transporter

aggressive behaviour


Input: Nuclear STK15 expression is associated with aggressive behaviour of oral carcinoma cells in vivo and in vitro.

aggressive behaviour


Input: Clinicopathological and molecular data (expression of Cdx2, Apc, β-catenin, E-cadherin, Fhit, p53, and human epidermal growth factor receptor-2 (Her2); HER2 and TOPO2A gene copy number; PIK3CA mutations; microsatellite instability) were correlated to cancer-specific/overall survival (CSS/OS) using a Cox model.

microsatellite instability


Input: Only two mutations within the rhodopsin gene have been previously reported in patients with congenital stationary night blindness, constitutive activation also having been proposed as a possible disease mechanism.

rhodopsin

congenital stationary night blindness

rhodopsin

congenital stationary night blindness


Input: Knockdown of individual Notch receptors revealed that Notch1 and Notch2 receptors differentially contributed to GBM cell growth, with Notch2 having a predominant role.

GBM

GBM


Input: By transducing primary melanoma cells with a lentivirus containing a 3'-UTR construct of PAR-1 mRNA, we could show that endogenous melanoma microRNAs interacted with PAR-1 3'-UTR and silenced a fused luciferase reporter.

UTR

melanoma


Input: A new core promoter mutation and premature stop codon in the S gene in HBV strains from Iranian patients with cirrhosis.

S gene

cirrhosis


Input: We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.

Hartnup disorder

Hartnup disorder


Input: Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.

HR

MUHH

HR

MUHH


Input: The review also covers the most recently discovered susceptibility genes including KIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form.

MAX

sporadic


Input: In addition to six coding-region mutations, our strategy revealed four complete TWIST deletions, only one of which associated with a translocation was suspected on the basis of conventional cytogenetic analysis.

TWIST

translocation


Input: We studied the role of hypoxia-inducible factor-1alpha (HIF-1alpha) in human lung adenocarcinoma cell invasion using a metastatic cell model composed of low invasive CL1 and highly invasive CL1-5 cells.

lung adenocarcinoma


Input: This study included 532 never-smoking female lung adenocarcinoma patients and 532 controls, with EGFR SNPs retrieved from a genome-wide association study.

EGFR

smoking


Input: Ethanol-elicited nuclear GAPDH augments TIEG2-mediated MAO B, which might play a role in brain damage in subjects with alcoholism.

alcoholism

alcoholism


Input: Analysis of microsatellite instability (MSI) revealed that tumors from individuals who carried both putative risk genotypes tended to have a higher frequency of MSI positives than those from patients who carried both low risk genotypes, although a significant correlation was not found between EXO1 genotype and MSI status.

microsatellite instability


Input: The minimal degree of variable expressivity among these individuals who were doubly deleted for BMP4 and OTX2 could be attributed to the combinatorial relationship of the two genes observed in animal models.

variable expressivity


Input: In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history.

PJS

PJS


Input: This study demonstrated that CRIM1 is expressed at high levels in resistant leukemia cells, indicating that CRIM1 may play a role in drug-resistance.

leukemia


Input: Probenecid, a prototypical uricosuric agent and chemical inhibitor of organic anion transporters known to target OAT3, was shown to be effective in limiting influenza A virus infection in vitro (50% inhibitory concentration [IC (50)] of 5. 0 & #215; 10 (-5) to 5. 0 & #215; 10 (-4) & #956; M; P & lt; 0. 005) and in vivo (P & lt; 0. 05).

influenza

influenza


Input: Whether upregulation of VEGF by a combination of MSC and VEGF gene transfer could enhance the protective effect of MSC in AKI is not clear.

VEGF

AKI

VEGF

AKI


Input: In men, there was an association of FTO genotype with all measures of adiposity (mean BMI, number of times obese, and, in nonobese persons, number of times overweight).

FTO

overweight


Input: An unselected series of 310 colorectal carcinomas, stratified according to microsatellite instability (MSI) and DNA ploidy, was examined for mutations and/or promoter hypermethylation of five components of the WNT signaling cascade [APC, CTNNB1 (encoding beta-catenin), AXIN2, TCF4, and WISP3] and three genes indirectly affecting this pathway [CDH1 (encoding E-cadherin), PTEN, and TP53].

E-cadherin

microsatellite instability


Input: Meanwhile, FRK over-expression promoted β-catenin translocation to the plasma membrane, where it formed complex with N-cadherin, while decreased β-catenin level in the nuclear fraction.

FRK

translocation


Input: Inhibition of VKORC1 by oral anticoagulants (OACs) is clinically used in therapy and in prevention of thrombosis.

thrombosis

thrombosis


Input: Modulation of cocaine reward is a novel action of the melanocortin-MC4-R system and could be targeted for the development of new medications for cocaine addiction.

cocaine addiction

cocaine addiction


Input: Similar to previous studies on murine melanoma, activation of the AMF receptor upregulated beta3 while it downregulated beta1 integrins at the cell surface, inducing an integrin phenotype characteristic for invasive/metastatic melanoma.

melanoma


Input: LTB (4) induced migration and proliferation of SMC in vitro, and treatment with the BLT receptor antagonist BIIL 284 (10 mg/kg, once daily) for 14 days after carotid artery balloon injury in vivo inhibited intimal hyperplasia in rats.

SMC

intimal hyperplasia


Input: Increasing evidence implicates metabotropic glutamate receptor mGlu (7) in the pathophysiology of stress-related disorders such as depression and anxiety.

mGlu (7

depression

mGlu (7

depression


Input: However, Southern blot analysis failed to detect structural abnormalities of this gene, and genotype analysis ruled out the possibility that a CD43 allele might be shared by the affected individuals.

abnormalities


Input: All of these genes, except transcription factor DLX1, are involved in the adhesion between neurons and radial glial cells.

adhesion


Input: Concerted promoter hypermethylation of hMLH1, p16INK4A, and E-cadherin in gastric carcinomas with microsatellite instability.

E-cadherin

microsatellite instability


Input: Recently the TEL gene at chromosome 12p13 and the AML1 gene at chromosome 21q22 were found to be involved in the translocation t (12; 21) (p13; q22).

translocation


Input: A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA.

tooth agenesis


Input: Multivariate logistic regression analysis estimated the adjusted odds ratios (ORs) between the presence of HC2-targeted types and age, viral load, and type of transport medium.

viral load


Input: At the edge of both types of ulcers, keratinocytes were p63 +, CD29 +, PCNA + and p53-.

ulcers


Input: The alloimmunization against platelet HPA-1a antigen in mothers of thrombocytopenic neonates is strongly associated with HLA class II structures (DR3 and DR13) and especially with HLA-DR52a antigen (98% of the cases reported here).

alloimmunization


Input: Toll-like receptor 4 Asp299Gly polymorphism is associated with an increased risk of pancreatic necrotic infection in acute pancreatitis: a study in the Chinese population.

Toll-like receptor 4

necrotic


Input: Collectively, our results show that deletion of A2 limits ONC-induced neurodegeneration and glial activation, and enhances axonal sprouting by a mechanism involving increases in BDNF and decreases in retinal inflammation.

neurodegeneration

neurodegeneration


Input: Hypoxia reduced PPARγ mRNA and protein levels, PPARγ activity, and the expression of PPARγ-regulated genes in human pulmonary artery smooth muscle cells (HPASMCs) exposed to 1% oxygen for 72 h. Similarly, exposure of mice to hypoxia (10% O₂) for 3 weeks reduced PPARγ mRNA and protein in mouse lung.

PPARγ

hypoxia


Input: In this study, 42 prostatic adenocarcinomas were analyzed to determine whether increased bcl-2 levels are associated with rearrangements in the 2. 8-kb major breakpoint region, an association known to occur in certain follicular lymphomas featuring a t (14: 18) translocation.

translocation


Input: Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent' flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic' dark choroid' pattern on fluorescein angiography.

Stargardt disease

atrophic


Input: The translocation interrupts two genes, AML1 on chromosome 21 and ETO on chromosome 8, that are consequently fused in the der (8) chromosome to produce a novel chimeric gene and message.

translocation


Input: MPA' s pro-thrombotic effects were prevented by mifepristone, while NET-A did not affect arterial thrombosis.

NET

arterial thrombosis


Input: Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp.

androgen receptor gene

balding


Input: Using a mouse model that recapitulates many aspects of the pathophysiology of human liver disease, we explored the mechanisms by which changes in the liver microenvironment induce dysplasia and HCC.

HCC

liver disease


Input: The AC and CC genotypes and the combined AC + CC genotype of rs151290 in KCNQ1 were associated with increases risk of T2DM before (OR = 1. 482, 95% CI = 1. 062-2. 069; p = 0. 021; OR = 1. 544, 95% CI = 1. 097-2. 172, p = 0. 013; and OR = 1. 509, 95% CI = 1. 097-2. 077, p = 0. 011, respectively) and after (OR = 1. 539, 95% CI = 1. 015-2. 332, p = 0. 042; OR = 1. 641, 95% CI = 1. 070-2. 516, p = 0. 023; and OR = 1. 582, 95% CI = 1. 061-2. 358, p = 0. 024; respectively) adjustment for sex, age, anthropometric measurements, biochemical indexes, smoking and alcohol consumption.

alcohol consumption


Input: A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III.

HPD

tyrosinemia type III

HPD

tyrosinemia type III


Input: 1, 2, 3, 4, 6-Penta-O-galloyl-β-D-glucose (PGG) inhibits glioma cancer U251 cells, more strongly than MDA-MB-231 and U87 cells.

glioma


Input: To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family.

5-alpha reductase deficiency

5-alpha reductase deficiency


Input: In the NFBC 1966 sample, having a mother with schizophrenia was associated with APA at the trend level (OR = 1. 14, 0. 99-1. 31, p = 0. 07).

APA

schizophrenia


Input: Severe molecular consequences, including the inability of the W152G protein aggregates to form protective aggresomes, may underlie the aniridia phenotype that results from the FOXC1 W152G mutation.

aniridia

aniridia


Input: In another family previously diagnosed as having Thomsen' s disease, we unexpectedly found a CLCN1 14 bp deletion known to cause recessive myotonia, and a rare Trp-118-Gly polymorphism.

Thomsen' s disease

Thomsen' s disease


Input: We found partial merosin deficiency in a boy presenting at 12 yr with marked limb weakness and a waddling gait.

merosin

waddling gait


Input: Our data suggest that polymorphisms of HMOX1 and NQO1 genes are associated with a high risk of metabolic disorders, including high systolic and diastolic blood pressure, hypertriglyceridemia, and low HDL-c levels in Mexican Mestizo individuals.

diastolic blood pressure


Input: Logistic regression analyses established multimerin 1, pro-platelet basic protein, fibrinogen-α, and fibrinogen-β for prognosis of sepsis.

pro-platelet basic protein

sepsis


Input: The 24 nonresponders were randomized and comedicated under double-blind conditions with lithium carbonate (Li) (2 x 400 mg/day) (CIT-Li group) or with placebo (CIT-Pl group) from days 29 to 35.

CIT

blind


Input: IGFBP-6 therefore might be involved in the direct effects of DES in androgen-independent prostate cancer.

prostate cancer

prostate cancer


Input: These studies define a new role for NR0B1 in oncogenic transformation and emphasize the utility of analyzing the function of EWS/FLI in Ewing' s sarcoma cells.

sarcoma


Input: Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency.

desmin

desminopathy

desmin

desminopathy


Input: The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations.

FAS

autoimmune lymphoproliferative syndrome

FAS

autoimmune lymphoproliferative syndrome


Input: The single measurement of serum S100B at 6 h after ICH induction was significantly correlated with brain edema formation and the maximal extent of the hematoma volumes.

brain edema

brain edema


Input: Several retrospective epidemiological studies report that utilization of 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) inhibitors called statins at mid-life can reduce the risk of developing sporadic Alzheimer' s disease (AD) by as much as 70%.

HMGCR

sporadic


Input: Recurrent mutations representing 34. 5% of all DCX mutations often lead to similar phenotypes, for example, either severe in sporadic subcortical band heterotopia owing to Arg186 mutations or milder in familial cases owing to Arg196 mutations.

DCX

sporadic


Input: Thymosin beta4 triggers an epithelial-mesenchymal transition in colorectal carcinoma by upregulating integrin-linked kinase.

colorectal carcinoma


Input: Our aim was to study the association of the ADIPOQ variations with body weight, serum adiponectin concentrations and conversion to T2DM in overweight subjects with impaired glucose tolerance.

ADIPOQ

body weight


Input: We now extend this work by showing that S100beta is induced in hearts of human subjects after myocardial infarction.

myocardial infarction

myocardial infarction


Input: TNF and LTA SNPs were not associated with the degree of atopy.

TNF

atopy


Input: With kinase suppressor of Ras 1 (KSR1) depletion as a reference standard, we used functional signature ontology (FUSION) analysis to identify the γ1 subunit of AMP-activated protein kinase (AMPK) as an essential contributor to PGC1β expression and colon tumor cell survival.

colon tumor


Input: To better understand the molecular mechanisms of prostate cancer (PCA) dissemination and to develop new anti-metastasis therapies, key regulatory molecules involved in PCA metastasis were identified in two human androgen-independent PCA cell lines, highly metastatic 1E8-H and lowly metastatic 2B4-L cells.

metastasis


Input: Within the group of EOPA-JRA patients, IL-1A2 was also associated with elevation of the erythrocyte sedimentation rate (P < 0. 0025).

EOPA

erythrocyte sedimentation rate


Input: UGT1A1, SLCO1B1 and SLCO1B3 polymorphisms become risk factors in neonates showing 10% or greater body weight loss during the neonatal period.

body weight


Input: Cells were assayed for expression of the hypoxia-inducible genes carbonic anhydrase 9 (CA9) and vascular endothelial growth factor (VEGF) by RT-PCR and for clonogenic survival after irradiation with 2, 5 or 10 Gy, under normoxic or hypoxic (0. 1% O2, 12 h) conditions in the presence or absence of chetomin (150 nM, 12 h, pre-treatment of 4 h).

VEGF

hypoxic


Input: Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities.

intellectual disability

intellectual disability


Input: Akin to secretory breast cancer, MASC expresses S-100 protein, mammaglobin, vimentin, and harbors a t (12; 15) (p13; q25) translocation which leads to ETV6-NTRK3 fusion product.

breast cancer


Input: These observations indicate that the LAMP assay is very useful for the diagnosis of HSV-1, HSV-2, and VZV infections.

LAMP

infections


Input: To elucidate the possible role of aalpha3, alpha5 and alpha7 nAChR subunit mediated PI3-K/Akt/PTEN pathway activation in squamous cell carcinoma of the head and neck (HNSCC) development, mRNA was isolated from 30 HNSCC tissues of known Akt activation state and were analyzed by reverse transcription polymerase chain reaction (RT-PCR).

squamous cell carcinoma of the head and neck


Input: We uncovered complex rearrangements in the MARS2 gene in all ARSAL patients.

ARSAL

ARSAL


Input: Other rare translocation partners for ALK other than EML4 may be found in lung cancers, including TRK-fused gene (TFG) and kinesin family member 5B (KIF5B).

TFG

translocation


Input: At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.

NGF

tonic-clonic convulsions

NGF

tonic-clonic convulsions


Input: We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.

POMC

hair color


Input: In HCC cells, MAT1A/MAT2A switch is associated with global DNA hypomethylation, decrease in DNA repair, genomic instability, and signaling deregulation including c-MYC overexpression, rise in polyamine synthesis, upregulation of RAS/ERK, IKK/NF-kB, PI3K/AKT, and LKB1/AMPK axis.

AKT

genomic instability


Input: We found evidence for a PTEN-related sequence (PTEN-rs) on genomic DNA of GBM and non-neoplastic cells.

PTEN-rs

non-neoplastic


Input: Both patients have duplications involving the Xp11. 22-p11. 23 region, indicating that this is an area of interest for future translational autism research.

autism


Input: The association of intense isometric exercise, abuse of erythropoietin and nandrolone is likely to have predisposed to coronary thrombus formation and acute myocardial infarction, as the patient presented no traditional cardiovascular risk factors.

erythropoietin

myocardial infarction

erythropoietin

myocardial infarction


Input: The aim of this study was to investigate the association of phosphoenolpyruvate carboxykinase 1 polymorphisms with metabolic traits in psychiatric patients treated with psychotropic drugs inducing weight gain and in general population samples.

phosphoenolpyruvate carboxykinase 1

weight gain


Input: MRI (n = 10) showed pituitary hypoplasia, mean vertical height 2. 61 +/-0. 76 mm.

MRI

height


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

mood disorders

mood disorders


Input: These results suggest that partial androgen resistance in this patient with Reifenstein syndrome is due to a single point mutation in the steroid binding domain of the androgen receptor.

androgen receptor

Reifenstein syndrome

androgen receptor

Reifenstein syndrome


Input: We hypothesized that TOLLIP and its common variants negatively regulate TLR signaling in human monocytes and are associated with susceptibility to tuberculosis.

TOLLIP

susceptibility to tuberculosis


Input: The methylation and mRNA expression of LATS1 and LATS2 may provide useful clues to the development of the diagnostic assays for astrocytoma.

astrocytoma

astrocytoma


Input: We investigated the prognostic significance of microsatellite instability (MSI) and the association with clinicopathological factors in colorectal cancer, and further identified MBD4 mutations and their clinicopathological significance.

microsatellite instability


Input: The finding of IL-1β/IRAK-1 signaling promoting Gankyrin expression through JNK and NF-Y/p300/CBP complex provides a fresh view on inflammation-enhanced hepatocarcinogenesis.

hepatocarcinogenesis


Input: Augmented atherogenesis in LDL receptor deficient mice lacking both macrophage ABCA1 and ApoE.

atherogenesis

atherogenesis


Input: Seventy-two tumors were CRC with defective DNA mismatch repair (MMR; microsatellite instability and/or loss of protein expression by immunohistochemical analysis), and 40 were proficient MMR controls.

MMR

microsatellite instability


Input: We have elucidated the role of maspin RCL on adhesion, migration, and invasion by transfecting the highly invasive human breast carcinoma MDA-MB-231 cell line with pcDNA3. 1-His/FLAG containing wild-type maspin, ovalbumin, or maspin/ovalbumin RCL chimeric mutants in which maspin RCL is replaced by ovalbumin (MOM) and vice versa (OMO).

RCL

breast carcinoma


Input: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

Frasier syndrome

Frasier syndrome


Input: We observed that BRN3A is independent of the regulative activity of HIPK2 and undergoes positive autoregulation in cervical cancer cells.

cervical cancer

cervical cancer


Input: A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema.

klotho

emphysema

klotho

emphysema


Input: We have addressed the effect of edaravone on the expression of vascular endothelial growth factor (VEGF), a potential mediator of brain edema, in astrocytes exposed to hypoxia.

VEGF

hypoxia


Input: In this study, we evaluated the effect of recombinant TFF3 (rTFF3) stimulation on the expression and cellular localization of the epithelial (E)-cadherin-catenin complex, a prime mediator of Ca2 + dependent cell-cell adhesion, and the adenomatous polyposis coli (APC)-catenin complex in HT29, HCT116, and SW480 colorectal carcinoma cell lines.

adenomatous polyposis coli


Input: Interleukin 8 heterozygote status was associated with spastic diplegia.

Interleukin 8

spastic diplegia


Input: Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.

bipolar disorder

bipolar disorder


Input: Mismatch repair (MMR) proteins (MSH2 and MLH1) deficiency is responsible for microsatellite instability (MSI) status.

MMR

microsatellite instability


Input: Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise.

cardiomyopathy


Input: We first identified MFG-E8 downregulation in invasive lesions in transgenic mammary tumor models, which were confirmed in LCM-isolated human invasive ductal carcinomas compared with patient-matched normal tissues.

mammary tumor

mammary tumor


Input: Binding between PBMC surface Sialyl-LewisX and activated endothelial cell E-selectin might therefore play a role in the pathogenesis of SSc-related isolated pulmonary hypertension.

E-selectin

pulmonary hypertension


Input: INHBA expression was examined in 46 esophageal samples (nine Barrett' s metaplasia (BM); seven BM/low-grade dysplasia; eight low-grade dysplasia; seven high-grade dysplasia; 15 EAC) using oligonucleotide microarrays and real-time reverse transcription-polymerase chain reaction (RT-PCR) and in 90 tissue samples (79 EAC; 8 dysplastic; 3 BM) using immunohistochemistry (IHC).

INHBA

esophageal


Input: Fused in sarcoma/translocated in liposarcoma (FUS/TLS or FUS) is a multifunctional DNA-/RNA-binding protein that is involved in a variety of cellular functions including transcription, protein translation, RNA splicing, and transport.

RNA-binding protein

sarcoma


Input: Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression.

RORB

autism


Input: To study stereotactic magnetic resonance imaging (MRI) features of the basal ganglia in DYT1 primary dystonia.

MRI

primary dystonia


Input: We conclude that genomic instability in colorectal adenomas is reflected by EGFR, MYC, NCOA3, and RAB20 amplifications that do correlate with histomorphological features and are indicative for adenoma recurrence and the presence of synchronous carcinomas.

adenoma


Input: The translocation t (14; 18) and its t (2; 18) and t (18, 22) variants, which involve the BCL2 genetic hallmark for follicular lymphoma (FL), have been reported in several cases of chronic B-cell lymphoproliferative disease (CLPD) and frequently in chronic lymphocytic leukaemia (CLL).

translocation


Input: Knockdown of endogenous IGF2BP1 by siRNA exhibited similar effects as the overexpression of miR-625, whereas overexpression of IGF2BP1 (without the 3'-UTR) abrogated miR-625-mediated metastasis inhibition.

UTR

metastasis


Input: Sections from 66 effusions and 90 primary and metastatic lesions from 62 ovarian and primary peritoneal carcinoma patients, were evaluated for expression of basic fibroblast factor (bFGF), interleukin-8 (IL-8), and vascular endothelial growth factor (VEGF) using mRNA in situ hybridization (ISH).

primary peritoneal carcinoma


Input: We conclude that these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD.

NEP

sporadic


Input: Patients carrying PKD1 mutations, especially those with truncating mutations, could have a more rapidly progressive disease than others.

rapidly progressive


Input: Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS.

mental retardation

mental retardation


Input: t (11; 18) (q21; q21) occurs specifically in mucosa-associated lymphoid tissue (MALT) lymphoma and the translocation generates a functional API2-MALT1 fusion product that activates nuclear factor (NF) kappaB.

translocation


Input: Of 535 sporadic NETs in the pancreas collected from the NET archives of the departments of pathology in Zurich, Switzerland, and Kiel, Germany, 24 patients (4. 5%) suffered from sporadic pancreatic gastrinomas and ZES.

NET

sporadic


Input: Since adrenomedullin (AM) elicits vasodilatation by binding to specific AM receptors consisted of calcitonin-receptor-like receptor (CRLR)/receptor-activity-modifying protein 2 (RAMP2) or CRLR/receptor-activity-modifying protein 3 (RAMP3) on endothelial cells and stimulating nitric oxide production, AM possibly involves in glomerular capillary dilatation in early phase of diabetic nephropathy.

CRLR

dilatation


Input: Homozygotes are highly susceptible to infection by Listeria monocytogenes, confirming the essential role of TNF in innate immune defense.

TNF

infection by Listeria monocytogenes

TNF

infection by Listeria monocytogenes


Input: These findings suggest that multiple C-C chemokines, acting at least in part via CCR3, contribute to bronchial eosinophilia in both atopic and nonatopic asthma.

atopic


Input: Interestingly, the novel mutation p. Ser217Cys, mapping between the FKH and the polyalanine domain of FOXL2 and producing a mild eyelid phenotype, led to normal localization and transactivation.

mild


Input: Abnormal expression of SAP-102 in schizophrenia and SAP-102 and PSD-95 in mood disorders in subcortical structures receiving afferent glutamatergic innervation from frontal cortex suggests dysregulation of cortical-subcortical circuitry in these illnesses.

mood disorders

mood disorders


Input: Significant correlations were observed between FAK overexpression and cell differentiation (P = 0. 0057), depth of tumour invasion (P = 0. 0023), presence of regional lymph node metastasis (P = 0. 0097), number of lymph node metastases (P = 0. 0026), and disease stage (P = 0. 012).

FAK

lymph node metastases


Input: In humans, mutations in the DLD homodimer interface have been linked to an atypical form of DLD deficiency.

DLD

DLD deficiency

DLD

DLD deficiency


Input: We assume that the clinical anomalies are due to der (9) monosomy 9pter--> p22, trisomy 10q--> 26qter.

monosomy


Input: Inherited defects of granule-dependent cytotoxicity led to the life-threatening immune disorder hemophagocytic lymphohistiocytosis (HLH), characterized by uncontrolled CD8 T-cell and macrophage activation.

immune disorder


Input: Overexpression of SOX1 by a constitutive or inducible approach could suppress cell proliferation, colony formation, and invasion ability in HCC cell lines, as well as tumor growth in nonobese diabetic/severe combined immunodeficiency mice.

HCC

severe combined immunodeficiency


Input: Tumors with lymph node metastases had more FAK protein than those without metastases.

FAK

lymph node metastases


Input: Analysis of the coding sequences of the desmin, alphaB-crystallin, SEPN1, lamin A/C genes and of exon 2 of the myotilin gene showed no abnormalities in the patient.

abnormalities


Input: Association of BST B1 restriction fragment length polymorphism (RFLP) of the parathyroid hormone (PTH) gene with bone mineral density (BMD) was examined in 383 healthy postmenopausal women in Japan who were unrelated.

PTH

bone mineral density


Input: Gene-expression profiling and a systems biology analysis identified activation of intracellular vascular endothelial growth factor (VEGF) signaling and hypoxia response pathways in progressive patients, which was associated with upregulation of hypoxia-inducible-factor (HIF)-1alpha and several HIF target genes, such as transferrin, transferrin-receptor, p21, and VEGF-receptor 1, but downregulation of VEGF-A.

VEGF-A

hypoxia


Input: We explored (i) if EZH2 expression is regulated by hypoxia and ischemia; (ii) the impact of EZH2 on the expression of two pro-angiogenic genes: eNOS and BDNF; (iii) the functional effect of EZH2 inhibition on cultured endothelial cells (ECs); (iv) the therapeutic potential of EZH2 inhibition in a mouse model of limb ischemia (LI).

BDNF

ischemia


Input: Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.

Dymeclin

Dyggve-Melchior-Clausen syndrome

Dymeclin

Dyggve-Melchior-Clausen syndrome


Input: PAH was evaluated in miR-145 knockout and mice treated with anti-miRs via measurement of systolic right ventricular pressure, right ventricular hypertrophy, and percentage of remodeled pulmonary arteries.

right ventricular hypertrophy


Input: PURPOSE: To investigate the molecular mechanisms that lead to inhibition of intimal hyperplasia (IH) following p53 gene therapy.

p53 gene

intimal hyperplasia


Input: The objective of the present studies was to investigate the hypothesis that chronic alcohol consumption alters the activity of the HPA axis and pituitary beta-END as a function of severity of alcohol abuse, gender, and age.

beta-END

alcohol abuse

beta-END

alcohol abuse


Input: Injection of a subnephritogenic dose of rabbit anti-mouse glomerular basement membrane serum induced glomerular disease in DAF knockout mice but not in wild-type controls.

DAF

glomerular disease


Input: The MUC5B variant was not a risk factor for lung fibrosis in patients with SSc or sarcoidosis and did not predict more rapidly progressive lung disease in any of the groups.

rapidly progressive


Input: In a rat model of LPS-induced airway inflammation, concurrent cigarette smoke inhalation enhanced mucin content of the bronchoalveolar lavage fluid, muc5AC gene expression, and mucous cell metaplasia in the airways.

muc5AC gene

metaplasia


Input: In comparison to serum α-fetoprotein (AFP) level, which remains the gold standard for HCC diagnosis, high serum DKK1 levels have higher diagnostic value for HCC, especially for AFP-negative HCC, and can distinguish HCC from non-malignant chronic liver diseases.

HCC

liver diseases


Input: Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

desmoplakin

skin fragility/woolly hair syndrome

desmoplakin

skin fragility/woolly hair syndrome


Input: Individuals carrying one or more of genotypes rs1150226-AG and rs1176713-GG in HTR3A and rs17614942-AC in HTR3B showed a significant overall mean difference between ondansetron and placebo in drinks per drinking day (22. 50; effect size = 0. 867), percentage of heavy drinking days (220. 58%; effect size = 0. 780), and percentage of days abstinent (18. 18%; effect size = 0. 683).

heavy drinking

heavy drinking


Input: Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.

bipolar disorder

bipolar disorder


Input: To determine the role of MET and/or HGF in tumorigenesis, a fibrosarcoma line expressing high levels of MET protein and low levels of HGF/NK2 mRNA was stably transfected with a hammerhead ribozyme targeting MET.

fibrosarcoma


Input: Pharmacological inhibition of mitogen-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) signaling pathways reduced the induction of VEGF and HIF-1 in response to bcl-2 overexpression in hypoxia.

VEGF

hypoxia


Input: The transient expression of ETS-2 and PU. 1 cDNAs in mesothelioma cell lines resulted in an increase in the promoter activity of Bcl-xl and consequently in its mRNA and protein expression levels, whereas the transcriptional repressor Tel suppressed Bcl-xl transcription.

Bcl-xl

mesothelioma


Input: Our results showed that hypoxia led to the upregulation of VEGF, NDRG1, and HIF-1α both at the mRNA and protein levels.

VEGF

hypoxia


Input: FNDC3B is another novel partner fused to RARA in the t (3; 17) (q26; q21) variant of acute promyelocytic leukemia.

acute promyelocytic leukemia

acute promyelocytic leukemia


Input: A combination of immunofluorescence and FISH was performed, applying antibodies directed against promyelocytic leukaemia body-related antigen and hTERT and using telomere peptide nucleic acid probes.

FISH

leukaemia


Input: Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26.

connexin 26

Porokeratotic eccrine ostial and dermal duct nevus

connexin 26

Porokeratotic eccrine ostial and dermal duct nevus


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

depression

depression


Input: We show here that mutations in the human flavin-containing monooxygenase isoform 3 gene (FMO3) impair N-oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype.

trimethylaminuria

trimethylaminuria


Input: Basal and hypoxia-inducible VEGF expression was reduced at both mRNA and protein levels by 50%.

VEGF

hypoxia


Input: The PLGA implantation reduced the marked loss of T2-weighted signal intensity seen at MRI in the injured discs and slowly decreased the disc height index (DHI) over the follow-up period.

MRI

height


Input: We suggest that the Factor V Leiden mutation be measured in all women on ERT or before beginning ERT to identify those heterozygous for the Factor V Leiden mutation (4%), in whom ERT is relatively or absolutely contraindicated because of increased risk for atherothrombosis and thromboembolism.

ERT

thromboembolism


Input: Furthermore, treatment of the mutant mice with U0126, an inhibitor of mitogen-activated protein (MAP) kinase kinase 1 and 2 (MEK1/2) that blocks phosphorylation and activation of ERK1/2, significantly inhibits craniosynostosis.

craniosynostosis


Input: TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.

breast tumour

breast tumour


Input: TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS.

ALS

ALS


Input: One of the main early cellular events evoked by hypoxia is induction of hypoxia-inducible factor 1 (HIF-1) and subsequent upregulation of vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Six other neurotransmitter genes were included in the regression equation-cholinergic, nicotinic, alpha 4 receptor (CHNRA4), adenosine A2A receptor (ADOA2A), nitric oxide synthase (NOS3), NMDAR1, GRIN2B, and GABRB3.

regression


Input: Our results demonstrate that genomic instability resulting from XPC silencing results in activation of AKT1 and subsequently NOX1 to induce ROS generation, mtDNA deletions, and neoplastic transformation in human keratinocytes.

genomic instability


Input: While lack of omentin may be related to the pathogenesis of obesity-related cardiovascular diseases, its effect in vasculature is largely unknown.

omentin

cardiovascular diseases


Input: Speech, prosody, and voice characteristics of a mother and daughter with a 7; 13 translocation affecting FOXP2.

translocation


Input: We investigated the individual and combined effects of maternal polymorphisms encoding the aromatic hydrocarbon receptor (AHR; rs2066853), cytochrome P450 (CYP) 1A1 (rs1048963), and the X-ray-complementing gene 1 (XRCC1; rs1799782) and prenatal smoking in relation to infant birth size.

AHR

smoking


Input: In this study, we further demonstrate that IGF-II/M6PR overexpression, resulting from cDNA transfection of JEG-3 choriocarcinoma cells, leads to a decreased cellular growth rate in vitro and decreased tumor growth in nude mice.

choriocarcinoma


Input: We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40 (phox), in a boy who presented with granulomatous colitis.

granulomatous colitis


Input: We hypothesised that the risk allele at the type 2 diabetes-associated missense polymorphism rs13266634 (R325W) in SLC30A8 would predict proinsulin levels in individuals at risk of type 2 diabetes and may modulate response to preventive interventions.

type 2 diabetes

type 2 diabetes


Input: The candidate genes were selected based on their functions, including insulin resistance (APM1, CD36, HSD11B1), oxidative stress (CYBA, GPX1, GSTMs), steroid hormone (ESR1, ESR2, HSD11B2), renal functions (PTGS2, KLK1, NPHS1, NPHS2, SGK, SLC12A1, PTGES), and others related to cardiovascular physiology (GJA4, NOS1, NTRK3, P2RX4, SPP1, ALDH2).

insulin resistance


Input: HCC cells infected with si-AFAP1-AS1 were injected into nude mice to investigate the effect of AFAP1-AS1 on the tumorigenesis in vivo.

tumorigenesis


Input: Serum EPO concentration is related primarily to the rate of erythrocyte production and, under the stimulation of hypoxia, increases exponentially as hemoglobin (Hb) decreased.

EPO

hemoglobin


Input: We show that secretion of vascular endothelial growth factor (VEGF), a protein with multiple disulfide bonds, was indeed impeded under hypoxia and was partially restored by artificial increase of oxidizing equivalents with diamide.

VEGF

hypoxia


Input: By comparison with those in normal subjects, the numbers of VIP-immunoreactive nerves were not significantly decreased in patients with asthma and chronic bronchitis, but NPY-immunoreactive nerves were significantly decreased in the smooth muscle of these latter two groups of patients (p & lt; 0. 005).

NPY

chronic bronchitis

NPY

chronic bronchitis


Input: Gitelman' s syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule (NCCT), features inherited hypokalemic alkalosis with so-called " normal " blood pressure.

NCCT

blood pressure


Input: On the basis of our results, we conclude that GATA6 is an important regulator of uPA gene expression, and the dysregulated expression of GATA6 contributes to colorectal tumorigenesis and tumor invasion.

tumorigenesis


Input: Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

adhesion


Input: Lack of somatic mutation in the coding sequence of SIAH1 in tumors hemizygous for this candidate tumor suppressor gene.

somatic mutation


Input: In MCF10DCIS xenograft tumors, CD44 knockdown decreased tumor size and weight as well as invasion markers.

weight


Input: The cooperative action between T cell activation and MKK6-mediated DC activation by Ni played an important role in the development of Ni allergy.

allergy

allergy


Input: Cases were categorized as likely sporadic (MLH1/PMS2 loss, evidence of MLH1 promoter hypermethylation) or putative LS (PLS) (loss of MSH2/MSH6, MSH6, or PMS2).

sporadic


Input: This analysis uncovered five ERMS samples with uniparental disomy (UPD) at the HRAS locus, two of which harbored HRAS mutations.

HRAS

uniparental disomy


Input: This would promote systemic protein C activation and early cessation of thrombin generation within a developing hemostatic clot, thereby explaining the phenotype of posttraumatic bleeding observed within this family.

protein C

bleeding


Input: As mediators of the stress response, corticotropin-releasing factor (CRF) and its receptors (CRFR1 and CRFR2) have been implicated in the propensity for developing stress-related mood disorders.

mood disorders

mood disorders


Input: Additionally, we found that gliomas contained various types of non-neoplastic cells expressing MGMT, including lymphocytes, vascular endothelial cells, and macrophages/microglias, which contribute to overall MGMT expression detected in tumor homogenates, and thus result in overestimation of tumor MGMT expression.

MGMT

non-neoplastic


Input: The Kaplan-Meier survival curves revealed that decreasing GPR37 expression was associated with poor prognosis in HCC patients, while in vitro, following the release from serum starvation of HuH7 HCC cell, the expression of GPR37 was downregulated.

HCC

starvation


Input: However, the overall PKR level was much lower in tumor tissues than that in non-tumor tissues, irrespective of HBV carrier status or serum viral load.

PKR

viral load


Input: In mutant mice, abnormalities of the SCF/c-kit gene expression, such as gene deletion, point mutation, alternative splicing defect, lead to different types of spermatogenesis alterations (e. g.

SCF

abnormalities


Input: Whole-genome searches have identified nicotinic acetylcholine receptor alpha5-alpha3-beta4 subunit gene variants that are associated with smoking.

smoking


Input: Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited syndrome linked to DNA-mismatch-repair (MMR) gene defects, which also account for microsatellite instability (MSI) in tumour tissues.

MMR

microsatellite instability


Input: ApoE and beta-amyloid (Abeta) 1-40 accumulated at 30 DPL in hE4 mice.

amyloid


Input: Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.

proinsulin

hyperproinsulinemia

proinsulin

hyperproinsulinemia


Input: Folic acid (FA), vitamin B6, and B12 supplementation has been previously shown to reduce increased levels of homocysteine and decrease migraine symptoms.

migraine


Input: These changes in RASF appeared to be related to reduced tumor necrosis factor-α secretion, G0/G1 arrest, and altered expression of various proteins including those involved in angiogenesis (matrix metalloproteinase 9, nitric oxide synthase trafficking), hypoxia (hypoxia-inducible factor-α, thioredoxin domain containing 5), proliferation (chromosome 10 open reading frame 116), and inflammation [CCL7, chemokine (C-X-C motif) ligand 9, interleukin 26].

chromosome 10 open reading frame

inflammation


Input: In Caucasians, SLC22A12 SNPs were associated with the body mass index (BMI).

body mass index


Input: These data show that DNMT mRNA expression was altered in suicide brain, and this change in expression in the frontopolar cortex was associated with increased methylation of a gene whose mRNA expression has previously been shown to be reduced.

DNMT

suicide


Input: AAV-mediated administration of myostatin pro-peptide mutant in adult Ldlr null mice reduces diet-induced hepatosteatosis and arteriosclerosis.

AAV

arteriosclerosis


Input: Pro-alpha1 (I) collagen mRNA was highly expressed in both desmoid tumors and HSF at approximately the same level, whereas pro-alpha1 (III) collagen mRNA was more abundant in some of the desmoid tumors than the normal skin fibroblastic cell lines.

HSF

desmoid tumors


Input: An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

familial advanced sleep phase syndrome

familial advanced sleep phase syndrome


Input: Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.

breast cancer

breast cancer


Input: Histochemistry study and real-time PCR further confirmed that GADD45beta staining in HCC was significantly decreased when compared to surrounding non-neoplastic liver tissue.

HCC

non-neoplastic


Input: TIM gene family and their role in atopic diseases.

TIM

atopic


Input: The findings of this study expand the clinical and pathologic spectrum of DGP associated with POMGNT2 variants from the severest Walker-Warburg syndrome to the mildest LGMD phenotypes.

Walker-Warburg syndrome

Walker-Warburg syndrome


Input: Emerging evidence has demonstrated that Neutrophil gelatinase-associated lipocalin (NGAL) is up-regulated in multiple malignancies, including oesophagus cancer, and plays a critical role in tumorigenesis and progression.

NGAL

tumorigenesis


Input: As angiopoietin-like protein 2 (ANGPTL2) mediates inflammation and inflammation-associated carcinogenesis, we investigated the functional and clinical significance of ANGPTL2 in human gastric cancer (GC).

inflammation


Input: The aim of this study was to analyze the expression of PAP and the effect of TJ-10 in a spontaneous chronic pancreatitis model.

PAP

chronic pancreatitis


Input: ET-1 also increases hypoxia-inducible factor-1alpha (HIF-1alpha) accumulation and activates the HIF-1 transcription complex under both normoxic and hypoxic conditions, suggesting a role for HIF-1 in the induction of VEGF expression.

VEGF

hypoxic


Input: Ultrasound-based three-dimensional motion analysis of arm swing during gait is a suitable tool to quantify even subtle hypokinesia in mildly affected PINK1 mutation carriers, which tends to be easily overlooked on the less affected body side during clinical examination.

hypokinesia


Input: To test this hypothesis, DNA samples from 112 cases of renal cell cancer and healthy controls (n = 180) were analyzed by PCR-RFLP to determine the genotypic frequency of six different polymorphic loci on five DNA repair genes (XRCC1, XPC, ERCC1, XRCC3, and XRCC7).

renal cell cancer


Input: Treatment of control clones with apoptotic stimuli (i. e., cycloheximide/tumor necrosis factor alpha (TNF-alpha), anti-Fas antibody, or serum starvation) resulted in a massive cell death by apoptosis.

TNF-alpha

starvation


Input: Forced expression of murine IL-17E induces growth retardation, jaundice, a Th2-biased response, and multiorgan inflammation in mice.

growth retardation


Input: In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF.

atrial enlargement


Input: This chapter presents a synopsis of translational clinical studies relating BCRP expression in leukemias, lymphomas, and a variety of solid tumors with clinical outcome.

BCRP

lymphomas


Input: ECE-1-/-term embryos exhibited craniofacial and cardiac abnormalities virtually identical to the defects seen in ET-1 and endothelin A receptor (ETA)-deficient embryos.

cardiac abnormalities

cardiac abnormalities


Input: NOS inhibition by L-NAME increased basal frequency and attenuated the positive chronotropic effect of beta-adrenergic stimulation in the HF group (P & lt; 0. 05).

NOS

HF

NOS

HF


Input: Data were correlated to the severity of neurological symptoms and the integrity of dopaminergic neurons measured via dopamine transporter binding.

dopamine transporter

neurological symptoms


Input: Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder.

RDS

AVMD

RDS

AVMD


Input: Although bone morphogenetic protein (BMP) families are crucial mediators in some types of cancer, whether BMP8B is involved in regulating the growth and apoptosis of pancreatic cancer cells and the progression of pancreatic cancer is not clear.

cancer


Input: The results suggest a role for aberrantly-regulated PTGDS mRNA expression in rapid-cycling bipolar disorder.

PTGDS

bipolar disorder

PTGDS

bipolar disorder


Input: Phosphoserine aminotransferase 1 (PSAT1) is over-expressed in many carcinoma tissues, however little is known regarding its expression and function in esophageal carcinogenesis.

esophageal


Input: Coexistence of factor V Leiden and primary antiphospholipid syndrome: a patient with recurrent myocardial infarctions and thrombocytopenia.

factor V Leiden

thrombocytopenia


Input: A total of 105 cases were investigated for A20 mutation/deletion, ABIN-1/2 mutation, MALT1 and IGH involved translocation.

translocation


Input: DN2 cells and DN3 cells secreted less VEGF than pCEP4-transfected TMK-1 cells when cultured in nonhypoxic or hypoxic conditions (e. g., DN2 versus pCEP4 in nonhypoxic conditions: 645 pg of VEGF/10 (6) cells versus 1591 pg of VEGF/10 (6) cells, difference = 946 pg of VEGF/10 (6) cells [95% confidence interval [CI] = 640 to 1251 pg of VEGF/10 (6) cells; P =. 006]; DN2 versus pCEP4 in hypoxic conditions: 785 pg of VEGF/10 (6) cells versus 2807 pg of VEGF/10 (6) cells, difference = 2022 pg of VEGF/10 (6) cells [95% CI = 1871 to 2152 pg of VEGF/10 (6) cells; P <. 001]).

VEGF

hypoxic


Input: Pro-apoptotic Bcl2 family members, Bcl-2/adenovirus E1B 19 kDa interacting protein (BNIP3) and Bad levels, were significantly increased in obese rat hearts, whereas anti-apoptotic Bcl2 family member, Bcl2 level, was significantly decreased.

adenovirus


Input: In randomized trials, pharmacological blockade at the level of the cannabinoid receptor 1 (CNR1) receptor not only facilitates weight reduction, but also improves insulin sensitivity and clinical measures of lipid homeostasis.

weight reduction


Input: On the cellular level, TFLLRN and thrombin prompted HT-29 cell migration and matrix adhesion by a PKCepsilon-dependent mechanism as concluded because of the inhibition of PAR1-mediated effects by the PKC inhibitor bisindolylmaleimide I and the PKCepsilon translocation inhibitory peptide EAVSLKPT but not by the PKC inhibitor Gö 6976.

adhesion


Input: Mdr2 (-/-) mice lacking IKK2 in hepatocytes developed spontaneously a severe liver disease characterized by cholestasis, major hyperbilirubinemia and severe to end-stage fibrosis, which caused muscle wasting, loss of body weight, lethargy and early spontaneous death.

muscle wasting


Input: Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.

blood pressure


Input: We have developed methodology that allows comparison of the mean corpuscular hemoglobin (MCH) of fetal hemoglobin (HbF)-containing red cells (F cells) with the MCH of non-F cells from the same individual.

MCH

mean corpuscular hemoglobin


Input: A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype.

PPCRA

PPCRA


Input: Genes deregulated at the DNA and mRNA level included well-known cancer genes partly already linked to melanoma (RAS genes, PTEN, AURKA, MAPK inhibitors Sprouty/Spred), but also novel candidates like SIPA1 (a Rap1GAP).

AURKA

melanoma

AURKA

melanoma


Input: As in the white matter, the mean GFAP mRNA levels were decreased in individuals with schizophrenia and bipolar disorder as compared with the unaffected controls, however the difference failed to reach statistical significance.

GFAP

schizophrenia

GFAP

schizophrenia


Input: A family with nine children, three with male pseudohermaphroditism due to testicular deficiency of 17-ketosteroid reductase activity (17-KSR) and four with congenital hypothyroidism is presented.

KSR

male pseudohermaphroditism


Input: We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations.

seborrheic keratosis

seborrheic keratosis


Input: We studied the roles of JMJD1A and its target gene ADM in the growth of hepatocellular carcinomas (HCCs) and breast cancer cells under hypoxic conditions.

ADM

hypoxic


Input: We investigate the influence of plasma BA concentrations and an ABCB11 polymorphism associated with lower transporter expression on viral load and SVR.

viral load


Input: Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

norrin

Norrie disease

norrin

Norrie disease


Input: FLs characteristically have rearrangements in the IgH and BCL2 genes resulting from the reciprocal t (14; 18) (q32; q21) translocation.

translocation


Input: Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.

bipolar disorder

bipolar disorder


Input: At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted.

myotilin

nervous system


Input: Mutations have been identified in the TAZ (G4. 5) gene in patients with BTHS.

TAZ

BTHS

TAZ

BTHS


Input: A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.

c-kit protooncogene

piebaldism

c-kit protooncogene

piebaldism


Input: Altogether, the results of this study raised the possibility of interaction between HIF-1α and VEGF, in mediating the neovascularization response induced by the prolonged hypoxic state brought about by closed eye CL wear.

VEGF

hypoxic


Input: We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.

depression


Input: The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance.

monilethrix

monilethrix


Input: To evaluate JNK2 in this manner, we used the highly metastatic 4T1. 2 mammary tumor cells.

mammary tumor


Input: We concluded that detecting BMI1 is helpful for predicting the survival in AML patients and monitoring the aggressiveness and progression in patients with CML.

aggressiveness


Input: We investigated the genetic influence on diabetes progression by constructing a genetic risk score (GRS) of all 48 validated type 2 diabetes susceptibility variants, a GRS of 11 variants linked to β-cell function and a GRS of 3 variants linked to insulin sensitivity and assessed the association between number of risk alleles and time from diagnosis until first redeemed prescription of either any glucose lowering drug or an insulin drug.

GRS

insulin sensitivity


Input: Genetic p23 knockdown was found to result in decreases in steady-state PHD2 protein and activity and reduced susceptibility to MPP & lt; sup & gt; + & lt;/sup & gt; neurotoxicity.

neurotoxicity

neurotoxicity