Input: Regarding all COG6-related disorders a genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal CDG phenotypes.

Shaheen syndrome

Shaheen syndrome


Input: In pemphigus foliaceus (PF), autoantibodies against desmoglein 1 (Dsg1) cause blisters.

blisters


Input: A highly invasive glioma cell line, U87, expressed high levels of ephrin-B2 compared with relatively less invasive cell lines.

glioma


Input: Tanshinone IIA protected brain tissues against ischemic and hypoxic damage in vivo and in vitro by mediating brain iron homeostasis which was associated with the downregulation of DMT1 and TfR, and the upregulation of Fpn1 and Heph.

hypoxic


Input: We established a mouse model of sporadic oncogene-driven breast tumorigenesis in a series of mutant mouse strains with specific DDR deficiencies to reveal a role for the Mre11 complex in the response to oncogene activation.

DDR

sporadic


Input: The expression patterns of nm23-H1 and c-erbB-2 proteins were analyzed by immunohistochemical staining using formalin fixed, paraffin embedded sections of 88 cases of invasive carcinoma (39 matched pairs of adenocarcinoma and squamous cell carcinoma, 8 cases of adenosquamous carcinoma, and 2 cases of undifferentiated carcinoma) and 31 cases of preinvasive lesions of the uterine cervix.

adenosquamous carcinoma


Input: We investigated the influence of major cardiovascular risk factors (smoking, hypercholesterolemia, diabetes mellitus) on the association between angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism and echocardiographic left ventricular mass in 225 patients with sustained hypertension, assessed by ambulatory blood pressure monitoring.

ACE

left ventricular mass


Input: p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.

adhesion


Input: Four general types of pathogenic effects with various retroviruses have been observed including: hemorrhage (TR1. 3), spongiform encephalopathy (CasBrE, FrCasE, PVC211, NT40, Mol-ts1), demyelination with inflammatory lesions (HTLV-1, visna, CAEV), and encephalopathy with gliosis and proinflammatory chemokines and cytokines, usually with microglial giant cells and nodules [human immunodeficiencyvirus (HIV), feline immunodeficiencyvirus (FIV), simian immunodeficiency virus (SIV), Fr98].

encephalopathy


Input: A total of 221 women with pre-eclampsia, eclampsia and HELLP syndrome and 147 healthy female controls were genotyped for GSTM1 and GSTT1 polymorphisms by polymerase chain reaction (PCR).

pre-eclampsia


Input: Initial results revealed significant association at 0. 05 level of significance between several KIFC1 variations and AERD (P = 0. 01-0. 05, OR = 1. 81-1. 90) as well as fall rate of forced expiratory volume in the 1st second, an important diagnostic marker of airways constriction (P = 0. 04-0. 05).

fall


Input: BDNF overexpression in YAC128 mice prevented loss and atrophy of striatal neurons and motor dysfunction, normalized expression of the striatal dopamine receptor D2 and enkephalin, and improved procedural learning.

BDNF

atrophy


Input: Thus, an inherited defect in CM hamsters leads to increased expression of p27-h in advance of the development of hypertrophy and heart failure.

heart failure


Input: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

LMNA

progeria

LMNA

progeria


Input: We have also quantified the mRNA of six genes previously identified as markers of the biopsychological stress associated with major depression: FOS, DUSP1, OGG1, STMN1, p16 (INK4a) and TERT.

major depression

major depression


Input: We tested single nucleotide polymorphisms (SNP) in pituitary growth hormone (GH1) and growth hormone-releasing hormone receptor (GHRHR) genes for an association with mammographic density, hormones of the growth hormone/IGF-I axis, and anthropometric variables.

IGF-I

mammographic density


Input: Fas antigen and sporadic Alzheimer' s disease in Southern Italy: evaluation of two polymorphisms in the TNFRSF6 gene.

Fas antigen

sporadic


Input: AIP mutations were detected in 16 (3. 6%) of the 443 patients, comprising six of 148 patients with acromegaly (4. 1%), six of 132 patients with prolactinomas (4. 5%), one of 113 patients with nonfunctioning adenomas (0. 9%), three of 44 patients with corticotropic adenomas (6. 8%), and none of the six patients with thyrotropic adenomas.

AIP

prolactinomas

AIP

prolactinomas


Input: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

Ollier disease

Ollier disease


Input: Top SNPs affecting glucose metabolism variables were as follows: fasting glucose, rs26125 (PPARGC1B); fasting insulin, rs4759277 (LRP1); C-peptide, rs4759277 (LRP1); homeostasis assessment of insulin resistance, rs4759277 (LRP1); quantitative insulin sensitivity check index, rs184003 (AGER); sensitivity index, rs7301876 (ABCC9), acute insulin response to glucose, rs290481 (TCF7L2); and disposition index, rs12691 (CEBPA).

insulin sensitivity


Input: An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib.

PMI

CDG-Ib

PMI

CDG-Ib


Input: Interestingly, white matter microglia from donors with peripheral inflammation displayed elevated CD45 levels and increased size and granularity, but were still distinct from macrophages.

inflammation


Input: Epithelial-to-mesenchymal transition (EMT), an essential developmental program, is involved in tumor progression.

EMT

tumor progression


Input: Most follicular lymphomas are associated with the t (14; 18) translocation that juxtaposes the bcl-2 gene located on chromosome 18 to the immunoglobulin gene locus located on chromosome 14.

bcl-2 gene

translocation


Input: RPMI 8226 multiple myeloma cells expressed P2X7 mRNA and protein, as well as P2X1, P2X4 and P2X5 mRNA.

multiple myeloma


Input: Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo.

aggrecan

familial osteochondritis dissecans

aggrecan

familial osteochondritis dissecans


Input: We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.

PFM

PFM


Input: A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer' s disease and lissencephaly share a common feature of abnormal Reelin expression in the brain.

Reelin

major depression

Reelin

major depression


Input: Immunohistochemical analysis led to the following conclusions: (1) specific pattern of MAP2-positive tumor cells can be identified in 95% of glial neoplasms; (2) ependymal tumors do not express MAP2 in their rosette-forming cell component; (3) tumors of the pineal gland as well as malignant embryonic tumors are also characterized by abundant MAP2 immunoreactivity; (4) virtually no MAP2 expression can be observed in the neoplastic glial component of glio-neuronal tumors, i. e.

ependymal tumors


Input: We screened the untranslated 5' region of the TFPI gene for polymorphisms and investigated their possible involvement in arterial thrombosis.

TFPI gene

arterial thrombosis


Input: Patients with diabetes and hyperglycemia exhibited significantly less GPx4 enzyme and greater HNE-adducts in their hearts, compared with age-matched non-diabetic patients.

hyperglycemia


Input: In major depression, strongest evidence of association was observed for a single nucleotide polymorphism in ABI3BP, with six loci also showing suggestive association.

major depression

major depression


Input: CONCLUSION: In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight.

body weight


Input: Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.

MDM

MDM


Input: Two days after global ischaemia CA1, CA3, dentate gyrus and cerebral cortex were obtained from sham-operated and I/R-injured 3-and 18-month-old Sprague-Dawley rats.

ischaemia


Input: Instead of accumulating a poorly degraded and aggregated mutant protein as seen in some myofibrillar and nemaline myopathies, VCP mutations disrupt its normal role in protein homeostasis resulting in the accumulation of ubiquitinated and aggregated proteins that are deleterious to skeletal muscle.

VCP

nemaline myopathies


Input: Oral glutamine challenge (OGC) was performed and MELD, Child-Pugh and the presence of esophageal varices were recorded.

OGC

esophageal varices


Input: Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.

TEF

pneumonia


Input: Partial trisomy 6p: 46, XX,-10, der (10), t (6; 10) (p22; q26) pat and HLA localisation.

pat


Input: Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.

β-catenin

vascular remodeling


Input: Glucagon relieves calcium channel blocker-induced hypotension in animal studies.

Glucagon

hypotension

Glucagon

hypotension


Input: No evidence of involvement of MLH3 in MSI tumorigenesis was obtained.

tumorigenesis


Input: The frequency of polymorphisms involving N-acetyltransferase 1 (NAT1), NAT2, cytochrome P450 1A1 (CYP1A1), CYP2D6, CYP2E1, glutathione S-transferase M1 (GSTM1), GSTT1 and apolipoprotein E were compared in 219 white adults with sporadic colorectal cancer and 200 white controls attending for blood donation at a blood bank.

sporadic


Input: Mammalian target of rapamycin (mTOR), a master regulator of proliferation, is activated in many of these tumors, possibly by mechanisms that are similar to some human fibrosis syndromes and/or by mutation of upstream tumor suppressor genes.

Mammalian target of rapamycin

fibrosis


Input: CoCl2 induced hypoxia increased VEGF secretion, HIF-1α, and PDK4 expression.

VEGF

hypoxia


Input: The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter.

PDS

Pendred syndrome

PDS

Pendred syndrome


Input: High risk, cancer affected Jewish Ashkenazi women, were genotyped for harboring germline mutations in the coding exons of both the RNF146 and ECHDC1 genes, using direct sequencing.

cancer


Input: This study tested for an association between SLC18A2 and ADRB1 and treatment outcome in 873 major depressive disorder patients treated with the antidepressant citalopram in the Sequenced Treatment Alternatives to Relieve Depression study.

Depression

Depression


Input: FBP1 was lowly expressed in 80% (8/10) human hepatocellular carcinoma, 66. 7% (6/9) liver cancer cell lines and 100% (6/6) colon cancer cell lines, but was higher in paired adjacent non-tumor tissues and immortalized normal cell lines, which was well correlated with its promoter methylation status.

colon cancer

colon cancer


Input: This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis.

bone resorption


Input: The expression pattern of EMT markers in AD suggests that vimentin is a possible immunohistochemical predictor of tumor progression.

EMT

tumor progression


Input: Hyperphagia, hyperinsulinemia, and hyperglycemia are unlikely to have contributed significantly to the enhancement of carcinogenesis in ZIP mice because similarly hyperphagic, hyperinsulinemic, and hyperglycemic ob/ob mice had normal susceptibility to carcinogenesis.

ZIP

hyperinsulinemia


Input: Evidence is thus provided for the upregulation of bronchial epithelial ICAM-1 expression by airway secretions in bronchiectasis and a specific role for TNF-alpha in the secretions.

bronchiectasis

bronchiectasis


Input: Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus.

CDS

CDS


Input: Knockdown of SOX17 increased foci formation in ESCC and normal esophageal cells.

esophageal


Input: In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.

patent ductus arteriosus


Input: In vivo GKT137831 inhibited hypoxia-induced increases in TGF-β1 and reductions in PPARγ expression and attenuated RVH and pulmonary artery wall thickness but not increases in RVSP or muscularization of small arterioles.

PPARγ

hypoxia


Input: When examining the relationship between Col1A1 genotype and bone mass, lumbar spine BMC was higher in individuals of genotype' Ss' or' ss' in the lowest birthweight tertile (P = 0. 02) after adjustment for age, sex and weight at baseline.

weight


Input: We sought to determine whether SDHD plays a role in the development of sporadic NET.

NET

sporadic


Input: We developed cell line LIS-3/SV40 from a primary myxoid liposarcoma with the t (12; 16) (q13; p11. 2) and trisomy 8.

myxoid liposarcoma


Input: Moreover, none of the AGPAT6 variants showed association with measures of obesity (waist circumference and BMI), serum lipid concentrations, fasting or 2-h post-glucose load levels of plasma glucose and serum insulin, or estimated indices of insulin secretion or insulin sensitivity.

waist circumference


Input: These results suggest that an abnormal HIF-1 & #945; in the renal medulla may represent a novel mechanism mediating salt-sensitive hypertension in Dahl S rats and that induction of HIF-1 & #945; levels in the renal medulla could be a therapeutic approach for the treatment of salt-sensitive hypertension.

hypertension

hypertension


Input: We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation.

pancytopenia

pancytopenia


Input: VEGF only partly reversed the effects of LDL on angiogenesis under conditions of normoxia and hypoxia.

VEGF

hypoxia


Input: Novel mutation in GJB4 gene (connexin 30. 3) in a family with erythrokeratodermia variabilis.

erythrokeratodermia variabilis

erythrokeratodermia variabilis


Input: Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).

VIT

prostate cancer


Input: Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis.

gastric cancer


Input: UGT1A1 * 28 is associated with Gilbert' s syndrome, a deficiency in glucuronidation of bilirubin leading to mild hyperbilirubinemia, whereas UGT1A6 * 2 may result in low glucuronidation rates of several drugs.

mild


Input: Prohibitin, however, could be a new potential marker for the synaptic pathology of schizophrenia and might be causally involved in the disease process.

Prohibitin

schizophrenia

Prohibitin

schizophrenia


Input: Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.

Meier-Gorlin syndrome

Meier-Gorlin syndrome


Input: The occurrence of c. 14576G > A variant was evaluated in patients with intracranial major artery stenosis/occlusion (ICASO) without signs of MMD (non-MMD ICASO), as well as in patients with MMD and other cerebrovascular diseases as controls.

MMD

cerebrovascular diseases


Input: For GHD patients, G/A or A/A genotype of the LEPR K109R SNP was associated with higher body weight, higher BMI, and higher weight velocity than patients with the G/G genotype before GH treatment, but not after GH treatment.

LEPR

body weight


Input: The expression of two ER stress markers, ATF3 and CHOP, were also increased in macrophages of human TB granulomas when assayed by immunohistochemistry.

granulomas


Input: We observed that tumor necrosis factor-alpha (TNF-alpha) and transforming growth factor-beta (TGF-beta), but not interleukin 1beta or hypoxia, stimulated Ang-1 gene expression in RSE This was confirmed at the protein level as media from TNF-alpha treated RSF resulted in increased autophosphorylation of Tie-2.

TGF-beta

hypoxia


Input: Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms.

HYPP

paramyotonia congenita

HYPP

paramyotonia congenita


Input: Based on clinical data and two distinct animal models, we now report that YB-1 is also a major metastatic driver in high-risk sarcomas.

sarcomas


Input: The growth of AsPC-1/IL-21 tumors developed in SCID mice was also retarded compared with parent tumors and the growth retardation was abrogated by treatment with anti-asialo GM (1) antibody.

growth retardation


Input: An oligonucleotide DNA microarray analysis of TaY cells revealed upregulation of genes encoding heat shock proteins (HSPA1A, STIP1, HSPA1B, and HSPCA), genes related to protein folding (CDC37 and ANAPC5), Fas-associated factor 1 (FAF1) and an oxidative stress-related gene, heme oxygenase-1 (HMOX-1), known to be a target gene of hypoxia-inducible gene-1 alpha (HIF-1 alpha).

hypoxia


Input: We have therefore screened the TERT gene for mutation by denaturing HPLC in 80 patients with inherited and acquired bone marrow failure (24 with dyskeratosis congenita, 36 with constitutional aplastic anemia, 13 with idiopathic aplastic anemia and 7 with other forms of bone marrow failure).

TERT

aplastic anemia

TERT

aplastic anemia


Input: Somatic instability studies were also performed on gastric and thyroid tumours using this STR: no instability was detected in thyroid tumour tissues when compared with their normal counterpart but in gastric tumour tissues microsatellite instability (MSI) was detected in 9. 6% of the cases and loss of heterozygosity (LOH) also in 9. 6% of the cases studied.

STR

microsatellite instability


Input: We studied the expression of programmed death ligand 1 (PD-L1), PD-L2, programmed death 1 (PD-1) and cytotoxic T lymphocyte-associated antigen 4 (CTLA4) mRNA in CD34 + cells from myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML) patients (N = 124).

chronic myelomonocytic leukemia


Input: In this study we have carried out haplotype analysis at the beta-globin gene cluster and defined the beta-thalassaemia mutations in a large Sardinian family, ascertained through a proband with thalassaemia major, in which several members were carriers of a beta-thalassaemia allele characterized by microcytosis, hypochromia and normal Hb A2 levels (type 2 normal Hb A2 heterozygous beta-thalassemia).

beta-globin

hypochromia


Input: PEDF expression was lower in normal uroepithelium than in papillary urothelial neoplasm of low malignant potential (PUNLMP) (P = 0. 000) and carcinoma (P = 0. 009) whilst IL-1α (P = 0. 000 and P = 0. 000 respectively) and IL-8 (P = 0. 000 and P = 0. 023 respectively) expression was higher in the same grouping.

PEDF

carcinoma


Input: Finally, 123 subjects whose mean corpuscular volume was ≤ 80 fL and who had no iron deficiency anemia were tested by PCR and PCR-restriction fragment length polymorphism (RFLP) for α-and β-thalassemias, respectively, and tested by PCR-RFLP for the five known variations of the UGT1A1 gene.

UGT1A1 gene

iron deficiency anemia


Input: This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency.

FVIII

haemophilia A

FVIII

haemophilia A


Input: The present study was designed to investigate the role of SIRT1 in the regulation of neointima formation and to elucidate the underlying mechanisms.

neointima formation


Input: In 1 case the diagnosis of cHL followed by lymphomatoid papulosis was confirmed, with Hodgkin/Reed-Sternberg cells expressing PAX5, CD30, and CD15.

lymphomatoid papulosis


Input: Among gliomas with isocitrate dehydrogenase-1/R132H mutation, the frequencies of ALCAM + cells were significantly higher for glioblastomas than for World Health Organization grade II or III gliomas.

ALCAM

gliomas


Input: Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.

inflammation

inflammation


Input: A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

MARCH

MARCH


Input: Finally, MG-63 cells expressing PTTG showed signs of aneuploidy including the presence of micronuclei and multiple nuclei.

PTTG

aneuploidy


Input: Surprisingly, we observed that PEITC suppressed the HIF-1α accumulation during hypoxia in human glioma U87, human prostate cancer DU145, colon cancer HCT116, liver cancer HepG2, and breast cancer SkBr3 cells.

glioma


Input: We use a bioluminescence imaging (BLI) platform to analyze the behavior of bioluminescent hAMSCs expressing HSV-tTK in a U87 glioma model and gain insight into the therapeutic mechanisms.

glioma


Input: To characterize the pattern and frequency of MCM5 expression in proliferative and malignant skin diseases in comparison with those of proliferating cell nuclear antigen (PCNA).

PCNA

skin diseases


Input: This study shows that in diabetes, the increased expression of AQP2 and UT-A1 in medullary collecting duct is consistent with an improved concentrating activity.

diabetes


Input: Vascular endothelial growth factor (VEGF) is a potent endothelial cell mitogen that has been shown to be increased in hypoxic lung.

VEGF

hypoxic


Input: In comparison with the low frequencies of RADs in the general population (about 0. 83%, including systemic lupus erythematosus, 0. 03%; dermatomyositis, 0. 04%; juvenile rheumatoid arthritis, 0. 03%; ankylosing spondylitis, 0. 01%; rheumatoid arthritis, 0. 62%; and other RAD, 0. 1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism (P < 0. 001) and very low serum testosterone levels (P = 0. 0005).

RAD

juvenile rheumatoid arthritis


Input: HIF-1α mediated the hypoxia-induced up-regulation of TF expression through vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: We hypothesize that Bcl-2 protein augmentation with adenovirus vector mediated bcl-2 (Adv-bcl-2) gene transfer may improve ischemia/reperfusion induced renal proximal and distal tubular apoptosis through the mitochondrial control of Bax and cytochrome C translocation.

translocation


Input: Thus, CD69 would be a possible therapeutic target for arthritis in human patients.

arthritis

arthritis


Input: Elevated serum RBP4 was associated with components of the metabolic syndrome, including increased body-mass index, waist-to-hip ratio, serum triglyceride levels, and systolic blood pressure and decreased high-density lipoprotein cholesterol levels.

waist-to-hip ratio


Input: ), ARF was evident by the: (i) decrease in creatinine clearance and increase in blood urea nitrogen, (ii) decrease in blood glutathione peroxidase (GPx) activity and increase in urinary excretion of N-acetyl-beta-D-glucosaminidase and total protein, and (iii) necrosis of proximal tubular cells.

ARF

necrosis


Input: However, its confounding with sex and smoking makes it unclear whether the EGFR mutation is independently associated with prolonged patient survival.

EGFR

smoking


Input: The analyses were based on MRI (n = 655) and mammography (n = 607) images obtained in the course of the UK multicentre magnetic resonance imaging breast screening (MARIBS) study of asymptomatic women aged 31 to 49 years who were at high genetic risk of breast cancer.

MRI

breast cancer


Input: Indeed, induction of autophagy was revealed by cytoplasmic accumulation of autophagic vacuoles and by an increase in both LC3 (MAP1LC3A) protein conversion and the amount of acidic autophagic vacuoles.

autophagic vacuoles


Input: Further analysis of squamous intraepithelial lesions (SIL) with (n = 12) or without (n = 4) MI for the (A) 10 change, a prototypic mutation found in over 90% of RER-positive colon cancers, also showed no aberration.

RER

squamous intraepithelial lesions


Input: A 3. 5 y-old girl carrying a severe mutation of the LDL-receptor gene known as " FH Pavia ", affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprotein apheresis (LDL-a).

DSC

familial hypercholesterolaemia


Input: The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation.

NBCCS

NBCCS


Input: We found genes involved in integrin signaling (TLN1), survival (YAP1, BIRC2), and adhesion and migration (TLN1, LAMA3, MMP7), as well as members of the hedgehog (GLI2) and notch (JAG1, RBPSUH, FJX1) pathways to be amplified and overexpressed.

adhesion


Input: The 12 carriers of XLRP had a spectrum of fundus abnormalities and varying severity of functional impairment as derived from visual field areas and ERG amplitudes.

ERG

abnormalities


Input: We first determined that hypoxia induces the expression of HIF-1α and GPER in CAFs, then we ascertained that the HIF-1α/GPER signaling is involved in the regulation of VEGF expression in breast cancer cells and in CAFs exposed to hypoxia.

VEGF

hypoxia


Input: We found that c-Myc could bind to an E box in the human cad promoter in gel shift assays and that growth regulated transcription from the human cad promoter was dependent on this c-Myc binding site.

c-Myc

cad


Input: We hypothesised that alleles related to higher pro-inflammatory and/or lower anti-inflammatory cytokine production would be associated with post-stroke depression (PSD).

PSD

stroke


Input: B-cell depletion prevented or reversed established rMOG-induced EAE, which was associated with less central nervous system (CNS) inflammation, elimination of meningeal B cells, and reduction of MOG-specific Th1 and Th17 cells.

MOG

inflammation


Input: Here we used immunohistochemistry to analyze the expression of SOX2 in human prostate tissues and found it contributed to tumorigenesis and correlated with histologic grade and Gleason score.

tumorigenesis


Input: The IL-33/ST2 axis is associated with human visceral leishmaniasis and suppresses Th1 responses in the livers of BALB/c mice infected with Leishmania donovani.

visceral leishmaniasis


Input: We then found that PAP knockout mice have normal acute pain sensitivity but enhanced sensitivity in chronic inflammatory and neuropathic pain models.

PAP

acute pain


Input: In line, mutant mice overexpressing Hand2 in otherwise healthy heart muscle cells developed a phenotype of pathological hypertrophy.

hypertrophy


Input: Loss of Fat4 disrupts oriented cell divisions and tubule elongation during kidney development, leading to cystic kidney disease.

cystic kidney disease

cystic kidney disease


Input: Particularly netrin-1 has been implicated in dampening hypoxia-induced inflammation.

hypoxia


Input: We also examined the role of SRF in colorectal carcinoma by overexpression of SRF in a colon cancer cell line.

SRF

colorectal carcinoma


Input: We have hypothesized that the extracellular matrix protein reelin is involved in the pathogenesis of major depression.

reelin

major depression

reelin

major depression


Input: Aberrant expression of the human hyaluronan synthase 2 (HAS2) gene has been implicated in the pathology of malignancy, pulmonary arterial hypertension, osteoarthritis, asthma, thyroid dysfunction, and large organ fibrosis.

fibrosis


Input: To explore the effects and mechanisms of miR-106a on multidrug resistance reversal in human glioma cells, we silenced miR-106a expression in the cisplatin-resistant U87 (U87/DDP) and the gefitinib-resistant U251 (U251/G) glioma cell lines and measured the resulting drug sensitivity, cell apoptosis rate and rhodamine 123 content.

glioma


Input: The exclusion criteria for mutation screening of the FSH receptor gene were: a history of operative sterilization or testicular malignancy, congenital abnormality other than cryptorchidism, and a chromosomal aberration or a Y-chromosome microdeletion.

FSH receptor

congenital abnormality


Input: VEGF is particulary upregulated in palisading cells adjacent to necroses and has subsequently been shown to be hypoxia-inducible in glioma cells in vitro.

VEGF

hypoxia


Input: The pigmentary retinopathy and neuropathy of abetalipoproteinemia (Mendelian Inheritance of Man 200100; Bassen-Kornzwieg disease), which is caused by mutations in the MTP gene, may involve loss of function at the retina.

MTP

neuropathy


Input: Our clinical and in vitro data suggest that HMGB2 plays a significant role in tumor development and prognosis of HCC.

HCC

HCC


Input: Using flow cytometry, immunohistochemistry, and RT-PCR, we elucidated the characteristics of nasal mucosal gamma delta T cells in patients with perennial allergic rhinitis (PAR), chronic infective rhinitis (CIR), and seasonal allergic rhinitis (SAR) and in normal subjects.

CIR

seasonal allergic rhinitis


Input: However, few studies have shown the expression of GCS in invasive ductal breast cancer and breast intraductal proliferative lesions.

GCS

invasive ductal breast cancer


Input: The difference in methylation frequencies between exposures and controls was statistically significant (p = 0. 002), and individuals with methylated ALAD gene showed an increased risk of lead poisoning (adjusted OR = 3. 57, 95% CI, 1. 55-8. 18).

ALAD

lead poisoning

ALAD

lead poisoning


Input: Classification and regression tree analysis revealed EGFR mutation to be the primary factor for identifying homogeneous patient subgroups in terms of PFS.

EGFR

regression


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

preproenkephalin

depression

preproenkephalin

depression


Input: Recently, polymorphisms of the closely related NOD2 have been associated with atopy-related traits.

atopy


Input: Common genetic origins for EEG, alcoholism and anxiety: the role of CRH-BP.

CRH-BP

alcoholism

CRH-BP

alcoholism


Input: We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.

filamin A

distal myopathy


Input: In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family.

Weyers acrofacial dysostosis

Weyers acrofacial dysostosis


Input: Involvement of peroxisome proliferator-activated receptor gamma in vitamin D-mediated protection against acute kidney injury in rats.

peroxisome proliferator-activated receptor gamma

acute kidney injury

peroxisome proliferator-activated receptor gamma

acute kidney injury


Input: We have compared expression of MUC1, MUC3, MUC4, MUC11, MUC12 and MUC13 mRNA in epithelial cancers and/or cell lines with non-malignant tissues.

cancers


Input: The polymorphisms were genotyped in 589 individuals to form samples for Transmission Disequilibrium Test (TDT) analysis (176 unrelated probands, 145 with both parents and 30 with one parent genotyped), linkage analysis (49 families with 54 independent affected sib pairs [ASPs]), and case-control analyses (67 familial cases with a first-degree SZ relative, 101 sporadic cases with no affected first-or second-degree relative, and 90 control cases).

TDT

sporadic


Input: Hemoglobin, erythrocyte indices (mean erythrocyte volume and red blood cell distribution width), serum levels of iron, transferrin and ferritin, platelet aggregation tests (with ADP, collagen, and ristocetin), PFA-100 closure time, and CD62P expression were evaluated in fasting blood samples of 22 children with IDA and 20 children without anemia.

PFA

anemia


Input: We identified four mutations (A334V, 614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2 patients with a total of 52 non-2. 7 kb deletion OCA2 genes.


Input: In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p. Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD.

mild


Input: Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease with an unknown etiology.

MMD

cerebrovascular disease


Input: In the present study, we found that a series of human colon cancer cell lines displayed various levels of expression of HINT1, with a very low level in SW480 cells.

colon cancer


Input: ESRD patients with SHP, usually associated with more severe anemia show resistance to rhEPO.

SHP

severe anemia


Input: In prostate cancer CWR22-Rv1 and PC3 cell lines, which showed distinct δ-catenin overexpression, E2F1 and Hes1 expression pattern was altered.

prostate cancer


Input: Genetic defects in ISBT may result in malabsorption of bile acids and a loss of bile acids into the large intestine, with a resultant increase in the cytotoxic secondary bile acids in the colon.

ISBT

secondary


Input: A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.

prolidase

prolidase deficiency

prolidase

prolidase deficiency


Input: These findings indicate that NOS1AP, a gene first identified as affecting the QTc interval in a general population, also influences sudden death risk in subjects with LQTS.

sudden death


Input: Overexpression of pancreatitis-associated protein (PAP) in human pancreatic ductal adenocarcinoma.

PAP

pancreatic ductal adenocarcinoma


Input: Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.

Epitempin

sporadic


Input: CNE cells with high VEGF expression induced by hypoxia were transfected with VEGF-specific siRNAs.

VEGF

hypoxia


Input: In contrast, the bromocriptine-induced hypotension was fully abolished by i. v. pretreatment with metoclopramide (300 micrograms/kg), a dopamine D2 receptor antagonist that crosses the blood-brain barrier, or by combined pretreatment with i. v. and i. t. domperidone.

dopamine D2 receptor

hypotension

dopamine D2 receptor

hypotension


Input: Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.

cystic kidneys

cystic kidneys


Input: Interestingly, the JMJD1A and ADM expressions were enhanced by hypoxia only in HepG2 and Hep3B cells.

ADM

hypoxia


Input: We also showed that knockdown of MTDH cannot only increase expression of FOXO3a but also activate it by promoting its translocation via MTDH/ERK1/2/FOXO3a pathway rather than MTDH/AKT/FOXO3a pathway.

AKT

translocation


Input: We reported previously that vascular endothelial growth factor isoform A (VEGF-A) expression by Mel57 human melanoma cells led to tumor progression in a murine brain metastasis model in an angiogenesis-independent fashion by dilation of co-opted, pre-existing vessels and concomitant enhanced blood supply (B. Kusters et al., Cancer Res., 62: 341-345, 2002).

VEGF-A

dilation


Input: Together, these findings suggest that the DACT1 c. 1256G & gt; A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome.

Townes-Brocks syndrome

Townes-Brocks syndrome


Input: We have identified a novel mutation in the pendrin gene causing Pendred' s syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis.

pendrin

Pendred' s syndrome

pendrin

Pendred' s syndrome


Input: Cyclin A expression in human hematological malignancies: a new marker of cell proliferation.

Cyclin A

hematological malignancies


Input: Ph + ALL patients with chromosome breaks which occur within the major breakpoint cluster region (M-BCR rearranged Ph + ALL) were treated with natural interferon-alpha (IFN-alpha) after entering complete remission.

BCR

chromosome breaks


Input: Microenvironmental interleukin-6 suppresses toll-like receptor signaling in human leukemia cells through miR-17/19A.

leukemia


Input: Indeed, recent data have suggested that CYP3A5 and ABCB1 gene polymorphisms are associated with blood pressure in the rat as well as in humans.

ABCB1 gene

blood pressure


Input: Presence of the LH or MM haplotype (hazard ratio, 3. 36; 95% confidence interval, 1. 16-9. 69), gender (0. 13; 0. 02-0. 67), and post-bronchodilator FEV1 value of predicted (0. 95; 0. 91-0. 99) are significant predictors of respiratory failure development. The haplotype of the Nrf2 gene promoter affects its activity, and is associated with the severity and the development of respiratory failure in COPD.

respiratory failure


Input: The introduction of siRNA against PKCalpha into SAS cells resulted in an increase of Bim, a decrease of Bcl-xL, the translocation of endonuclease G, and a decrease in the phosphorylation of FAK.

FAK

translocation


Input: The present study examined the prodynorphin and kappa opioid receptor mRNA expression levels in the anterior cingulate and dorsolateral prefrontal cortices of subjects diagnosed with schizophrenia, bipolar disorder, or major depression as compared with normal controls without a psychiatric diagnosis.

prodynorphin

major depression

prodynorphin

major depression


Input: The late induced p53 by 7-oxysterols contributes to apoptotic cell death and is linked to the reduction of Egr1 levels, which resembles the differential expression of p53 and Egr1 in human atheroma progression.

atheroma


Input: The AML1-ETO fusion transcription factor is generated by the t (8; 21) translocation, which is present in approximately 4%-12% of adult and 12%-30% of pediatric acute myeloid leukemia (AML) patients.

translocation


Input: Increased adhesion potency of ovarian carcinoma cells to mesothelial cells by overexpression of dipeptidyl peptidase IV.

dipeptidyl peptidase IV

adhesion


Input: Signalling pathways in bradykinin-and nitric oxide-induced hypotension in the normotensive rat; role of K +-channels.

bradykinin

hypotension

bradykinin

hypotension


Input: In the present work we have evaluated the expression of many pro-inflammatory TNF system cytokines (TNF-alpha, TWEAK and their respective receptors, TNFR1, TNFR2 and Fn14) in human adipose tissue of 84 subjects some with different degree of obesity and type 2 diabetes, and its relation with inflammation by also measuring the expression of macrophage marker CD68.

inflammation


Input: To study the role of eNOS in the control of the metabolic action of insulin, we assessed insulin sensitivity in conscious mice with disruption of the gene encoding for eNOS. eNOS (-/-) mice were hypertensive and had fasting hyperinsulinemia, hyperlipidemia, and a 40% lower insulin-stimulated glucose uptake than control mice.

eNOS

insulin sensitivity

eNOS

insulin sensitivity


Input: Human Polynucleotide Phosphorylase (hPNPase (old-35) or PNPT1) is an evolutionarily conserved 3' → 5' exoribonuclease implicated in the regulation of numerous physiological processes including maintenance of mitochondrial homeostasis, mtRNA import and aging-associated inflammation.

inflammation


Input: We assessed mutations of the NF2, LATS1, and LATS2 genes, promoter methylation of LATS1 and LATS2, and expression of YAP and phosphorylated YAP in 82 cases of sporadic schwannomas.

sporadic


Input: Ectopic expression of miR-124 inhibited IL-6-mediated cholangiocyte proliferation in vitro and cholangiocyte hyperplasia in vivo, through a mechanism involving direct targeting of the 3'-untranslated region of STAT3 and IL-6R.

hyperplasia


Input: MCP-1 is believed to play an important role in monocyte infiltration into tumor tissues; however, the relationship between tumor-infiltrating macrophage/microglia (TIM/M) and the expression of chemokines has not been investigated in detail in human glioma samples; therefore, we first examined the expression of several chemokines and chemokine receptors in human tumor cell lines, which included glioma lines, using real-time PCR.

TIM

glioma


Input: The APOE epsilon4 allele conferred increased risk for dementia (OR = 1. 5, 95% CI = 1. 1 to 2. 2) compared to epsilon3 in the MRC CFAS sample.

MRC

dementia


Input: We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.

neuroblastoma

neuroblastoma


Input: The results of the present study provide evidence on global changes in STAT gene expression in the hippocampus of rats after focal cerebral ischaemia and reperfusion, in which STAT2, 5a, 5b, 6 and SOCS4 were confirmed to be significantly modulated during focal cerebral ischaemia.

cerebral ischaemia


Input: Muscle atrophy induced by dexamethasone (dexa) administration occurred with a decrease in Akt (-53%; P & lt; 0. 01) phosphorylation together with a decrease in beta-catenin protein levels (-40%; P & lt; 0. 001).

beta-catenin

Muscle atrophy

beta-catenin

Muscle atrophy


Input: These animal models and cells isolated from them will be useful for further validation of PARG as a potential pharmaceutical target to intervene the pathogenesis induced by acute tissue injury, ischemia and inflammation.

PARG

ischemia


Input: The association with major depression, suicide, and panic disorder of a new functional 5-HT1A polymorphism at C (-1019) G that selectively blocks repression of the 5-HT1A autoreceptor by NUDR further suggests a causative role for altered regulation of this receptor in predisposition to mental illness.

NUDR

major depression

NUDR

major depression


Input: Effects of the CB1/CB2 receptor agonist WIN55, 212-2, the receptor-inactive enantiomer WIN55, 212-3, the CB2-selective agonist (R, S)-AM1241, the opiate agonist morphine and vehicle on chemotherapy-induced neuropathy were evaluated.

neuropathy


Input: MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate.

cleft lip

cleft lip


Input: Together, these findings reveal that the canonical Wnt and PI3K/Akt signal pathways restrain the GSK3/Fbw7-dependent Eya1 ubiquitination, and they further suggest that dysregulation of this novel axis contributes to tumorigenesis.

tumorigenesis


Input: E2F-1-induced cancer cell apoptosis was accompanied by Bax translocation from the cytosol to mitochondria and the induction of caspase-9 activity, suggesting that E2F-1-induced apoptosis is mediated by PUMA through the cytochrome C/Apaf-1-dependent pathway.

PUMA

translocation


Input: Alterations in genes involved in regulating the cell cycle such as cyclin D1 and the retinoblastoma (Rb) gene have also been shown to influence cellular response to MTX.

MTX

retinoblastoma


Input: Since the specific silencing of hepatic Fas expression only partially protected from inflammation, but completely attenuated apoptotic and necrotic cell death as well as microcirculatory dysfunction, the development of therapeutic strategies with DBTC lipoplex formulations to treat ALF should be combined with anti-inflammatory strategies to reach maximal therapeutic efficacy.

ALF

necrotic cell death


Input: The effect of the mutant & #946; 2 subunit on the INa strongly suggests that SCN2B is a new candidate gene associated with BrS.

BrS

BrS


Input: We have also shown that mice haploinsufficient for ATM develop cataracts earlier than wild-type animals, when exposed to either low-LET X-rays or high-LET (56) Fe ions.

ATM

cataracts

ATM

cataracts


Input: Using Ink4a/Arf-deficient primary mouse astrocytes, primary astrocytes immortalized by p53/Rb suppression, as well as human U87 glioma cells, we show that EGFRvIII expression enhances clonogenic survival following IR.

glioma


Input: Finally, also calcitonin is able to influence haloperidol-induced catalepsy by markedly increasing it.

calcitonin

catalepsy

calcitonin

catalepsy


Input: All cirrhotic rats died of liver dysfunction by 7 weeks after the initial injection of DMN.

DMN

liver dysfunction


Input: Salivary adenoid cystic carcinoma (SACC) is a malignant tumor that is characterized by perineural invasion (PNI).

PNI

adenoid cystic carcinoma


Input: In this study, we demonstrated that miR-584 was downregulated in human glioma and could suppress growth of the human glioma cell line U87-MG and U251-MG. Bioinformatics analysis indicated that PTTG1IP was a putative target of miR-584.

glioma


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

depression

depression


Input: Hypoxia induced the up-regulation of HIF-1alpha protein and downstream VEGF gene, and HCPT showed a dose-dependently inhibitory effect on the hypoxia-induced over-expression of HIF-1alpha protein and VEGF gene expression in SiHa cells, whereas HCPT had no significant effect on the HIF-1alpha mRNA expression.

VEGF

hypoxia


Input: Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

lathosterol 5-desaturase

Lathosterolosis

lathosterol 5-desaturase

Lathosterolosis


Input: We also observed an effect of LTB (4) on red cell-endothelial adhesion at concentrations that appear clinically relevant (1-10 pmol/mL) with concomitant up-regulation of mRNA for the endothelial vitronectin receptor.

LTB

adhesion


Input: We hypothesize that CRE, Mef2, and GR signaling form a transcription regulating network, which underlies differential amphetamine sensitivity, and therefore, may play an important role in susceptibility to psychosis.

psychosis

psychosis


Input: In serous ovarian cancer, we make the novel observation that inactivation of BRCA1 and BRCA2 is mutually exclusive of amplification of CCNE1 and inactivation of RB1, suggesting distinct alternative causes of genomic instability in this cancer type; and, we identify RBBP8 as a candidate oncogene involved in Rb-mediated cell cycle control.

genomic instability


Input: Disc height was decreased after injection with HTRA1 and was significantly correlated with changes in GAG/DNA of the NP tissue.

height


Input: Mutations in the LKB1 gene are responsible for the Peutz-Jeghers Syndrome (PJS) characterized by a predisposition to hamartomatous polyps and hyperpigmentation of the buccal mucosa.

hyperpigmentation


Input: We investigated the compensatory changes in endogenous apelin and APJ levels in the setting of ischemic cardiomyopathy. Male, Lewis rats underwent LAD ligation and progressed into heart failure over 6 weeks.

apelin

ischemic cardiomyopathy


Input: METHODS: Genomic DNA of the normal liver tissues was extracted from 507 patients with HCC confirmed by histopathological examination and 541 patients with benign liver diseases.

HCC

liver diseases


Input: Matrix metalloproteinases required for ventricular remodeling during the evolution of heart failure are upregulated in utrn (-/-); mdx mice concurrent with the onset of cardiac pathology by 10weeks-of-age.

utrn

ventricular remodeling


Input: Ectopic nuclear bcl-10 expression, which has been previously associated with API2-MALT1, was seen by immunohistochemistry in 86% of API2-MALT1 fusion-positive cases, one IGH-MALT1 fusion-positive case, two aneuploidy-only cases, and two normal cases.

aneuploidy


Input: Disruption of the ATP8A2 gene in a patient with a t (10; 13) de novo balanced translocation and a severe neurological phenotype.

ATP8A2 gene

translocation


Input: Thus, feedback regulation of IR trafficking and function by class III PI3K may be a therapeutic target in metabolic conditions of insulin resistance.

insulin resistance


Input: Inhibition of ANGPTL4, which was highly expressed in hypoxic UM cells, a UM orthotopic transplant model, a UM tumor array, and vitreous samples from UM patients, inhibited the angiogenic potential of UM cells in vitro and in vivo; this effect was additive to VEGF inhibition.

VEGF

hypoxic


Input: COX-2 was not expressed in normal urinary bladder samples but was detected in 25 of 29 (86%) invasive transitional cell carcinomas of the urinary bladder and in 6 of 8 (75%) cases of carcinoma in situ.

transitional cell carcinomas

transitional cell carcinomas


Input: IGFBP-rP1 could upreguate Transgelin (TAGLN), downregulate SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) (SOX9), insulin receptor substrate 1 (IRS1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), amphiregulin (schwannoma-derived growth factor) (AREG) and immediate early response 5-like (IER5L) in RKO, SW620 and CW2 colon cancer cells, verified by Real time Reverse Transcription Polymerase Chain Reaction (rtRT-PCR).

campomelic dysplasia


Input: Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH).

Axenfeld anomaly

Axenfeld anomaly


Input: This locus has been previously linked to congenital lymphedema, namely by the FLT4 gene.

congenital lymphedema

congenital lymphedema


Input: TNF also stimulates inflammation by activation of gene transcription through the IkappaB kinase (IKK)/NF-kappaB and JNK (c-Jun N-terminal protein kinase)/AP-1 signaling cascades.

inflammation


Input: Interaction between ALDH2 genotype (Glu/Glu + Glu/Lys versus Lys/Lys) and cumulative smoking dose was statistically significant (P = 0. 036) and was consistently observed in the analysis among never-drinkers (interaction P = 0. 041).

smoking


Input: High AKAP121 levels, seen in cells lacking Siah2, attenuate fission and reduce apoptosis of cardiomyocytes under simulated ischemia.

ischemia


Input: GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

GNE

distal myopathy with rimmed vacuoles

GNE

distal myopathy with rimmed vacuoles


Input: Anakinra, a recombinant human interleukin-1 receptor antagonist, inhibits apoptosis in experimental acute myocardial infarction.

interleukin-1 receptor antagonist

myocardial infarction

interleukin-1 receptor antagonist

myocardial infarction


Input: The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.

NBAS

abnormalities


Input: Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans.

DDC

smoking behavior


Input: Furthermore, the similarity in the growth pattern between this female and patients with estrogen resistance or aromatase deficiency implies that the association of an extra copy of SHOX with gonadal estrogen deficiency may represent the further clinical entity for tall stature resulting from continued growth in late teens or into adulthood.

SHOX

tall stature


Input: Association study using single nucleotide polymorphisms in the estrogen receptor beta (ESR2) gene for preeclampsia.

preeclampsia


Input: Patients with paraneoplastic pemphigus (PNP) and inflammatory bowel diseases, such as Crohn' s disease (CD) and ulcerative colitis (UC), develop autoantibodies against simple epithelial cells.

PNP

paraneoplastic pemphigus


Input: The signal transducer and activator of transcription (STAT) 3, a transcriptional factor downstream of several cytokines, is activated by Janus kinase families and plays a pivotal role in cardiac hypertrophy through gp130.

cardiac hypertrophy


Input: Invasion of matrigel and adhesion to laminin by AAC-11 transfected CUMC-6 cells were increased by approximately 2-fold and 4-fold, respectively.

adhesion


Input: Considering the overexpression of mRNA, it was tentatively suggested that LY6E, TACSTD1, and CD44 proteins may act as surface markers for sorting pancreatic cancer stem cells with fluorescence-activated cell sorter/magnetic-activated cell sorter.

pancreatic cancer

pancreatic cancer


Input: Two translocation breakpoints in 11p13 (one associated with familial aniridia and one with a sporadic case of congenital renal dysfunction resulting from urethral and ureteral atresia) map within this SRO.

SRO

ureteral atresia


Input: Sustained activation of Rac1 in hepatic stellate cells promotes liver injury and fibrosis in mice.

liver

liver


Input: With the specific probes, all RMSs expressed alpha-CARD actin mRNA, four neoplasms expressed also alpha-smooth muscle actin mRNA, whereas the probe for alpha-SK actin mRNA never produced a signal except in one case, in which the tumor masses were intermingled with non-neoplastic preexistent striated muscle fibers.

smooth muscle actin

non-neoplastic


Input: APOE genotypes in 207 autopsies with intracranial haemorrhage (96 subarachnoid haemorrhage, 71 deep intracerebral haemorrhage, 40 cerebral amyloid angiopathy (CAA)-related haemorrhage patients) were compared with 41 autopsy controls without neuropathological abnormalities and 406 living patients admitted to hospital following head injury.

APOE

intracranial haemorrhage


Input: An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.

glucose/galactose malabsorption

glucose/galactose malabsorption


Input: PTK6 is also primarily cytoplasmic in the PC3 prostate adenocarcinoma cell line.

prostate adenocarcinoma


Input: A balding scalp is characterized by high levels of the potent androgen dihydrotestosterone and increased expression of the androgen receptor gene.

androgen receptor gene

balding


Input: Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.

CREB

cold


Input: Two lung adenocarcinoma cell lines (CL1-0 and CL1-5) with different metastatic ability and radiosensitivity were used.

lung adenocarcinoma


Input: It is therefore not surprising that folate deficiency may be rare and that the RFC-1 c. 80A--> G polymorphism is less biologically significant for placental abruption.

RFC

placental abruption


Input: Here, we report on an arterial thrombosis in a young girl with idiopathic membranous glomerulonephritis associated with heterozygous factor V Leiden and homozygous MTHFR C677T mutation.

factor V Leiden

arterial thrombosis


Input: No germ-line mutations in MSH3 have so far been associated with Lynch Syndrome, although it is known that impaired MSH3 activity leads to a partial defect in mismatch repair (MMR), with low levels of microsatellite instability at the loci with dinucleotide repeats in colorectal cancer (CRC), thus suggesting a role for MSH3 in carcinogenesis.

MMR

microsatellite instability


Input: In vitro, not only reduced expression but also structural abnormalities of E-cadherin have been observed in human carcinoma cell lines which grow in a loosely adhering manner.

E-cadherin

abnormalities


Input: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

malformations of cortical development

malformations of cortical development


Input: Our results point out that the overexpression of HMGA1P6 and HMGA1P7 could contribute to increase HMGA1 levels in human pituitary tumors, and then to pituitary tumorigenesis.

tumorigenesis


Input: Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).

body weight


Input: To test the hypothesis that polymorphisms in DSBs genes are associated with susceptibility to male infertility, we examined 11 single nucleotide polymorphisms in eight key DSBs genes (XRCC3, XRCC2, BRCA2, RAG1, XRCC5, LIG4, XRCC4 and ATM) in 580 infertility cases and 580 controls from a Chinese population-based case-control study (NJMU Infertility Study).

infertility


Input: The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.

PPARA

smoking


Input: Considering this, we wanted to evaluate the frequency of mutations in the coding region of the FUS gene in a sporadic ALS (SALS) cohort compared to a control population.

FUS gene

sporadic


Input: We measured transcript levels of CDC42, CDC42EP3, CDC42EP4; their interacting proteins (septins [SEPT2, 3, 5, 6, 7, 8, and 11], anillin), and other spine-specific proteins (spinophilin, PSD-95, and synaptopodin) in the DLPFC from 31 subjects with schizophrenia and matched normal comparison subjects.

schizophrenia

schizophrenia


Input: To evaluate sensitivity, specificity, and positive and negative predictive value of mean corpuscular hemoglobin (MCH) for screening alpha-thalassemia-1 trait and beta-thalassemia trait.

MCH

mean corpuscular hemoglobin


Input: We performed a further comparative analysis of the clinical phenotypes and hematological parameters in this pedigree and found that the father was a carrier of the novel point mutation and showed low levels of hemoglobin (Hb), mean corpuscular volume (MCV) and mean corpuscular Hb (MCH).

MCH

mean corpuscular volume


Input: These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome.

p53 tumor-suppressor

Li-Fraumeni syndrome

p53 tumor-suppressor

Li-Fraumeni syndrome


Input: The administration of adenovirus-mediated RNAi and an atelocollagen/siRNA mixture against endogenous DUSP21 significantly suppressed xenograft HCC tumors in mice.

adenovirus


Input: HMGB1 thus participates in both development and maintenance of chemotherapy-induced painful neuropathy, in part through RAGE and TLR4.

RAGE

neuropathy


Input: RESULTS: The translocation breakpoints in T and B were found in FOXP2 on chromosome 7 and in RFC3 on chromosome 13.

translocation


Input: Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.

Stargardt disease

atrophic


Input: Our aim was to study the influence of IL28B rs12979860 gene polymorphism on the biochemistry and pathology of HCV-induced disease in the clinical course from mild chronic hepatitis C to hepatocellular carcinoma.

mild


Input: This outcome is associated with an increased basal resistance, but more so, an enhanced Nrf2 response to lesioning that attenuated the ensuing neurotoxicity.

neurotoxicity

neurotoxicity


Input: Our data suggest that promoter hypermethylation contributes to the HA-1 gene regulation in tumors.

tumors

tumors


Input: This study aimed to examine the influence of PTX3 on cardiac hypertrophy and left ventricular dysfunction with respect to pressure overload.

cardiac hypertrophy


Input: We detected the expression of cyclin G1 with immunohistochemistry, HPV16/18 infection with in situ hybridization, and high-risk HPV infection with Hybrid capture system II (HC-II) in normal group (25 cases), CIN I (48 cases), CIN II (56 cases), CIN III (54 cases), and invasive cervical squamous-cell carcinoma (SCC, 31 cases).

HC-II

carcinoma


Input: Here we show that NKX3. 1 expression is dramatically down-regulated in testicular cancer of germ cell origin.

NKX3. 1

testicular cancer


Input: We investigated the association of genetic polymorphisms of NQO1, ALDH2, CYP2E1, and the combined genotype of these genes on lung cancer risk, and also evaluated the association after stratification by cumulative smoking amounts and alcohol drinking levels.

smoking


Input: The ongoing identification and characterisation of mutations in the MTHFR gene will provide further insight into the heterogeneity of the clinical phenotype in severe MTHFR deficiency.

MTHFR

MTHFR deficiency

MTHFR

MTHFR deficiency


Input: In this study, we investigated the effects of hypoxia on miR-100 and FGFR3 expression, and the link between miR-100 and FGFR3 in hypoxia.

hypoxia


Input: Moreover, we bring evidence that OSM or interleukin (IL)-6, produced in lymph nodes and/or melanoma cells, could be involved in the establishment of OSM resistance during melanoma progression.

OSM

melanoma


Input: Reinforcing effects were measured using a double-blind preference procedure comparing ETH to placebo (PLC), and subjective effects were assessed using standardized self-report questionnaires.

PLC

blind


Input: Surprisingly, the role of caspase-1 in tumorigenesis was not through regulation of colonic inflammation, but rather through regulation of colonic epithelial cell proliferation and apoptosis.

tumorigenesis


Input: As homozygotes for the nonsense mutation at codon 116, which truncates a carboxyl-terminal site of XPAC protein at an early part of its zinc-finger domain, have not been reported previously, the possible severity of associated neurological abnormalities was not known.

XPAC

abnormalities


Input: NR4A2, an orphan nuclear receptor essential in the generation of dopaminergic neurons, has been recently linked to inflammation and cancer.

inflammation


Input: In conclusion, our findings indicate that Grhl2 plays an essential role in the determination of epithelial phenotype of breast cancers, EMT and tumor progression.

EMT

tumor progression


Input: In this paper, we propose that IL-22 has a crucial role to play in controlling epithelial cell proliferation and tumorigenesis in the breast.

tumorigenesis


Input: Overall, 10 of 11 patients with EGFR mutations in exon 19 or 21 showed tumour regression with gefitinib treatment, compared to only two of 14 patients with wild-type EGFR.

EGFR

regression


Input: No significant clinical improvement of the liver abscess was observed during treatment with GM-CSF.

GM-CSF

liver abscess


Input: Tensin is a family of multidomain scaffold proteins that bind the cytoplasmic tail of beta-integrins and localize to adhesions that anchor stress fibers in cells.

Tensin

adhesions


Input: We assessed changes in the 6q24 locus, KATP-channel subunit genes (ABCC8 and KCNJ11), and preproinsulin gene (INS) and investigated associations between genotype and phenotype, with special attention to extra-pancreatic abnormalities.

abnormalities


Input: In order to evaluate the pathophysiologic role of BNP in the nephrotic syndrome, we investigated the plasma levels and effects of BNP in adriamycin (ADR)-induced nephrotic rats.

BNP

nephrotic syndrome


Input: Real time PCR, Western blot, and immunohistofluorescence assays confirmed a significant decrease of the major mitochondrial antioxidant protein manganese-superoxide dismutase (SOD2) in the superficial layer of OA cartilage.

OA

OA


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: Given its role in innate immune responses to bacterial infections, MIF is a novel target for therapeutic intervention in patients with septic shock.

MIF

septic shock


Input: BACKGROUND & AIMS: In mice, activation of the transient receptor potential cation channels (TRP) TRPV1, TRPV4, and TRPA1 causes visceral hypersensitivity.

hypersensitivity


Input: REA groups BI, J, G and CF correlated with specific PCR ribotypes whereas more than one ribotype was found within REA groups Y, BK, and K. International surveillance of C. difficile strains is important to document the changing epidemiology of this enteric pathogen that continues to cause healthcare facility outbreaks and sporadic infections in other settings.

REA

sporadic


Input: The most commonly known AML1-ETO fusion protein (full-length AML1-ETO) from this translocation has 752 amino acids and contains the N-terminal portion of RUNX1 (also known as AML1, CBFalpha2 or PEBP2alphaB), including its DNA binding domain, and almost the entire RUNX1T1 (also known as MTG8 or ETO) protein.

translocation


Input: We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs.

sporadic


Input: As shown here in a young woman, the natural history of LAMP2 may demonstrate an extreme profile of left ventricular remodeling with regression of hypertrophy (i. e.

ventricular remodeling


Input: Genes encoding GABRA1 and GABRA6, on chromosome 5, did not provide evidence for association with alcoholism.

alcoholism

alcoholism


Input: Conversely, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 were significantly decreased in asthmatics compared to healthy controls (0. 296 vs 0. 50, P < 0. 01; 0. 4 vs 0. 563, P < 0. 05); Logistic regression analysis showed that HLA-DQA1 * 0104 allele was associated independently with asthma etiology, OR [represented by Exp (B)] was 5. 0942 with 95% CI 2. 2520-21. 1813; Spearman' s analysis showed that HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were positively associated with atopy, the correlation coefficient were 0. 183 and 0. 289 respectively, P < 0. 01.

atopy


Input: In this investigation of the association of red cell values with the ALDH2 genotype and possible confounding factors, the drinking, smoking, and dietary habits reported on a structured questionnaire by 163 Japanese working men were subjected to multivariate analyses.

smoking


Input: Primary eosinophilic disorders include hypereosinophilic syndrome (HES); chronic eosinophilic leukemia, not otherwise categorized (CEL-NOC); platelet-derived growth factor receptor (PDGFR)-rearranged myeloid neoplasms; and other myeloid malignancies associated with prominent blood eosinophilia.

NOC

eosinophilia


Input: In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.

fibromatosis


Input: The most common genetic aberration in follicular lymphoma (FL) is the t (14; 18) (q32; q21) translocation that juxtaposes the antiapoptotic BCL2 gene with the promoter of the immunoglobulin heavy chain (IgH) gene.

BCL2 gene

translocation


Input: In a population-based study of 305 cases and 428 controls in Warsaw, Poland, we evaluated the effect of polymorphisms in alcohol metabolizing genes, including ADH1B (Ex9 + 5C > T, Ex3 + 23A > G, Ex3 + 58A > T and Ex9 + 77A > G), ADH1C (Ex8-56A > G and Ex6-14G > A) and ALDH2 (Ex1 + 82A > G), on levels of alcohol drinking and susceptibility of stomach cancer.

stomach cancer


Input: Functional data from fibroblasts derived from individuals with PIK3R1 mutations showed severe insulin resistance for both proximal and distal PI3K-dependent signaling.

insulin resistance


Input: The exogenous miR-363 promotes growth, viability, progression, epithelial-mesenchymal transition and tumorsphere formation of SC-M1 gastric cancer cells through downregulation of MBP-1, whereas the knockdown of endogenous miR-363 suppresses tumorigenesis and progression of SC-M1 cells via upregulation of MBP-1.

tumorigenesis


Input: These findings suggest that SCN5A is one of the responsible genes for IVF patients who do not show typical ECG manifestations of the Brugada syndrome.

IVF

IVF


Input: In the light of data that major depression is associated with an activation of brain CRH and LC-NE systems, the time-dependent effect of long-term imipramine administration on decreasing the gene expression of CRH in the hypothalamus and TH in the LC may be relevant to the therapeutic efficacy of this agent in depression.

TH

major depression

TH

major depression


Input: Intradermally injected substance P (1 and 3 microM, 25 and 75 pmol) released significant amounts of histamine (peak levels being 90 and 475 nM), evoked weal-and-flare reactions, but did not cause pain.

substance P

weal


Input: Beside the drug-responsive elements of the mdr1 promoter, heat-shock responsive elements have also been identified, which could be exploited for construction of heat-inducible expression vectors.

shock


Input: We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here.

3C syndrome

3C syndrome


Input: MMR status in CRCs was established by testing for microsatellite instability (MSI).

MMR

microsatellite instability


Input: In another rare, neurodegenerative striatal motor disorder, that is, autosomal-dominant striatal degeneration, genetic defects in PDE8B gene are thought to underlie the neurodegenerative processes.

PDE8B gene

motor disorder


Input: AST was obtained from the medicinal plant Astragalus membranaceus, which possesses anti-tumor and pro-apoptotic properties in colon cancer cells and tumor xenograft.

AST

colon cancer


Input: In this study, we found that CML CD34 + cells expressed lower level of Spred2 compared with normal hematopoietic progenitor cells, and adenovirus mediated restoration of Spred2 promoted the erythroid differentiation of CML cells.

adenovirus


Input: Heterozygous Fbxw7 propellor tip (R482Q) mutations promote intestinal tumorigenesis on an Apc mutant background.

tumorigenesis


Input: TNF-alpha inhibited the growth of one large cell carcinoma cell line (H-157), whereas all SCLC lines were found to be insensitive.

TNF-alpha

large cell carcinoma


Input: The weight lowering potential of glucagon-like peptide 1 (GLP-1) receptor agonists (RAs) is inter-individually different and clinically unpredictable.

weight


Input: These data demonstrate that interaction with the auxiliary subunit TRIP8b is a major mechanism underlying proper expression of HCN channels and I (h) in vivo, and suggest that targeting I (h) may provide a novel approach to treatment of depression.

depression

depression


Input: We showed that these " naked " siRNAs suppress neovascularization in mice not via RNAi but via sequence-independent activation of cell surface Toll-like receptor-3 (TLR3).

neovascularization


Input: One patient with mutated DPD was not treated with chemotherapy upon the clinician' s decision because of his DPD mutated genotype and the presence of microsatellite instability.

DPD

microsatellite instability


Input: Here we provide evidence in human neural (HN) cells of an aluminum-sulfate-and reactive oxygen species (ROS)-mediated up-regulation of an NF-kappaB-sensitive miRNA-146a that down-regulates the expression of complement factor H (CFH), an important repressor of inflammation.

CFH

inflammation


Input: The (X; 1) (p11; q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present.

cytogenetic abnormality


Input: No significant abnormalities of the N400 repetition effect or the P600 repetition effect were found, indicating preserved implicit memory and verbal memory, respectively, in females with FXTAS.

abnormalities


Input: BMPR2 potentially signals through multiple immediate downstream pathways, including Smad, MAPK, LIM domain kinase 1 (LIMK) and dynein, light chain, Tctex-type 1 (TCTEX), v-src sarcoma viral oncogene homolog (SRC), and nuclear factor kappa-B (NFkB).

sarcoma


Input: Recently, 3 functional polymorphisms, G (-930) A in CYBA, T481S in CLCNKB, and E65K in KCNMB1, were reported to be associated with blood pressure (BP) status and the aim of this study was to confirm those findings using a large cohort representing the general Japanese population.

CYBA

blood pressure


Input: Thus, RSUME plays an important role in initiating pituitary tumour neovascularisation through regulating HIF-1α levels and subsequent VEGF-A production and may therefore be critically involved in pituitary adenoma progression.

pituitary tumour


Input: STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.

endometriosis


Input: Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome


Input: To investigate abnormalities in BCR-mediated signaling pathway in lupus B lymphocytes, we analyzed HS1, a molecule downstream of BCR, in 80 Japanese SLE patients.

abnormalities


Input: Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

DHDPSL

primary hyperoxaluria type III

DHDPSL

primary hyperoxaluria type III


Input: Evidence that HIF-2alpha is the important isoform for EPO regulation in humans comes from the recent observation that mutations in the HIF2A gene are associated with cases of erythrocytosis.

erythrocytosis


Input: None of the 13 cases analyzed by FISH showed the t (6; 14) translocation, but in 2 (15. 3%) grade I FLs 3 cyclin D3 signals were detected.

cyclin D3

translocation


Input: Expression of transforming growth factor (TGF)-beta1,-beta2, and-beta3 isoforms and TGF-beta type I and type II receptors in multiple sclerosis lesions and human adult astrocyte cultures.

multiple sclerosis


Input: The mRNA expressions of intestinal proteins claudin, occludin and zona occludens-1 were significantly decreased in ethanol group.

occludin

zona


Input: Among HLA-DRB1 specificities, HLA-DRB1 * 01 showed positive correlation with asthma and atopy (p = 0. 034), while HLA-DRB1 * 03 specificity was observed with significantly higher frequency among patients with total serum IgE > or = 400 KU/L (p = 0. 048).

atopy


Input: Under hypoxia or IL-1 stimulation, conditions common to the inflamed synovium, type B synoviocytes secrete increased levels of VEGF, which is likely to act on nearby endothelia, promoting angiogenesis.

VEGF

hypoxia


Input: Following treatment, cells in the Lichong Decoction group appeared to be arranged normally, the cellular morphology were almost in a normal state, hyperplasia and hypertrophy of the chondriosome was reduced, collagen fibers were arranged in a regular manner, without obvious hyperplasia, and the expression of IGF-I and PCNA mRNA was significantly decreased compared with the model group (P < 0. 01).

PCNA

hyperplasia


Input: In in vitro experiments, the inhibition of the cytoplasmic translocation of HuR protein by leptomycin B (LMB) reduced the upregulation of VEGF-A expression in malignant astrocytic tumor cells under hypoxic conditions.

VEGF-A

hypoxic


Input: Disruption of SSX1 or SSX2, by chromosome translocation and' in-frame' fusion to SYT, is a consistent feature of synovial sarcomas.

chromosome translocation


Input: In conclusion, GAD positive subjects initially diagnosed with Type 2 diabetes are unable to compensate for insulin resistance due to more pronounced beta-cell impairment.

GAD

insulin resistance


Input: Tissue concentrations (fmol/mg tissue wet weight) of immunoreactive 7B2 varied from 135 to 1787 in pituitary tumours; from less than 0. 5 to 555 in bronchial carcinoids; from 21. 7 to 793 in phaeochromocytomas; from less than 1. 6 to 948 in medullary thyroid carcinomas.

carcinomas


Input: MSP screening of leukemia cells from six T-lineage acute lymphoblastic leukemia (ALL) patients demonstrated methylation of the Syk promoter CpG island in one T-lineage ALL patient.

MSP

acute lymphoblastic leukemia


Input: Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.

WD

WD


Input: Forced cyclin A1 overexpression in NIH3T3 cells and in U937 leukemic cells either by transient transfection or by retroviral infection enhanced S phase entry.

cyclin A1

retroviral infection


Input: The potential role of NCAM in tumour cell biology was investigated by silencing the NCAM gene in the TPC1 thyroid papillary carcinoma cell line.

papillary carcinoma


Input: Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Increasing evidence suggests that EMT plays a pivotal role in tumor progression and metastatic spread.

EMT

tumor progression


Input: Electroretinographic (ERG) responses in rats treated with 1, at doses 20-40 times higher than those needed to treat addiction in rats, exhibited reductions in ERG responses, which were less than the reductions observed in rats treated with vigabatrin at the same dose needed to treat addiction in rats.

ERG

addiction


Input: Recurrence rates, disease-free survival, and overall survival were compared between EGFR-mutant and wild-type patients using Kaplan-Meier methods and Cox regression models.

EGFR

regression


Input: miR-let7c, miR-100, and miR-218 were significantly overexpressed by all localized high GS, pT3 PC in comparison with metastatic carcinoma.

metastatic carcinoma


Input: Two distinct partners of double IGH translocation identified by FISH were as follows: c-MYC + BCL2 in 3 patients, c-MYC + BCL1 in 2, c-MYC + BCL6 in one, BCL2 + 9q22 in one, and 1q21 + 6q27 in one.

translocation


Input: Hypoxic culture alone also stimulated VEGF secretion, but more importantly, hypoxic culture conditions doubled the rate of VEGF secretion stimulated by the cytokines TGF-beta and IL-1.

TGF-beta

hypoxic


Input: Sixty-seven patients with stroke were selected according to the cerebral infarction diagnosis standard of the Fourth National Cerebrovascular Disease Conference and divided into a PSD group (28 patients, 43-76 years old) or a control stroke group (39 patients, 43-78 years old) using the Hamilton Rating Scale for Depression, and compared to 40 healthy volunteers (42-78 years old).

PSD

cerebral infarction


Input: Here we report that the inositol polyphosphate 5-phosphatase, phosphatidylinositol 4, 5-bisphosphate 5-phosphatase, has a tumour suppressive role in melanoma.

inositol polyphosphate 5-phosphatase

melanoma


Input: Transfections using siWee1 in metastatic melanoma cell lines; WM239 (WTp53), WM45. 1 (MUTp53) and LOX (WTp53), further support our hypothesis of a tumor promoting role of Wee1 in melanomas.

LOX

metastatic melanoma


Input: In M2 AML, the t (8; 21) translocation, CBFalpha (AML1) is altered and produced as the AML1-ETO fusion protein.

translocation


Input: Furthermore, a methylation-sensitive restriction enzyme method was used to demonstrate statistically significant (p & lt; 0. 0001) increase in the frequency of NR5A1 gene methylation in ovarian tumors (36/46; 78%) versus normal ovaries (1/11; 9%).

ovarian tumors

ovarian tumors


Input: ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized.

ACTH

epilepsy

ACTH

epilepsy


Input: Early treatment with progesterone alone or more evidently in combination with E (2) showed a clinical benefit and produced myelinating and neuroprotective effects in mice with MOG (40-45)-induced EAE.

MOG

EAE

MOG

EAE


Input: The hemogram showed a phenotype of beta-thalassemia minor: Hb (13. 1 g/dL), mean corpuscular volume (MCV) (62 fL) with low mean corpuscular hemoglobin (MCH) (20. 8 pg), associated with a high level of Hb A (2) of 5. 3%.

MCH

mean corpuscular volume


Input: Two top loci in interaction term analyses, RBFOX3 and ERO1LB-EDARADD, also displayed suggestive differences in main effect size between the lean and obese strata.

EDARADD

obese


Input: Recently, a number of patient-specific VANGL1 and VANGL2 protein mutations have been identified in familial and sporadic cases of mild and severe forms of NTDs.

mild


Input: It has been previously suggested that t (14; 18) translocation of bcl-2 to the immuno-globulin heavy chain (IgH) locus may contribute to pathogenesis of lymphoproliferative disorders related to hepatitis C virus (HCV) infection, including type II mixed cryoglobulinemia (MC).

heavy chain

mixed cryoglobulinemia


Input: Although the retinas are initially normal, by 3-9 months the Crb1 (-/-) retinas develop localized lesions where the integrity of the outer limiting membrane is lost and giant half rosettes are formed.

giant


Input: ING5 inhibits cancer aggressiveness via preventing EMT and is a potential prognostic biomarker for lung cancer.

aggressiveness


Input: Blunted GLP-1 response to OGTT was observed in heavier as compared with leaner DZ cotwins discordant for obesity and insulin sensitivity.

insulin sensitivity


Input: The median survival time of the patients with the BCL-2 rearrangement and/or t (14; 18) was longer than the patients without the BCL-2 gene rearrangement and translocation and also patients with the c-MYC gene rearrangement and/or translocation.

translocation


Input: The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.

neurodegeneration


Input: Moreover, understanding the role of IL-8 in EMT will provide insight into the pathogenesis of tumor progression and may facilitate the development of an effective strategy for the prevention and treatment of metastatic cancer.

EMT

tumor progression


Input: Patients with the highest expression of HIFs and the lowest VEGFA and VEGFR2 were essentially the same, indicating hypoxia without the necessary angiogenesis.

VEGFA

hypoxia


Input: Intrahepatic expression of c-fos, c-myb and c-myc oncogenes: correlation with virus-induced chronic liver disease and response to interferon.

myc oncogenes

chronic liver disease


Input: Downregulated glucose transporter 4, insulin receptor substrate-1 and leptin receptor (P < 0. 01) were found relative to normal, where DNA ladder, downregulated B cell lymphoma/leukemia-2, upregulated B cell lymphoma/leukemia-2 Associated X protein and upregulated ER stress chaperones such as Bip/GRP78 (also known as Binding Protein, BiP), PKR-like ER kinase (PERK), p-PERK/PERK and C/EBP homologous protein were significant.

PERK

leukemia


Input: The model of RVD (SU5416/hypoxia) exhibited a significantly decreased gene expression of peroxisome proliferator-activated receptor-γ coactivator-1α, peroxisome proliferator-activated receptor-α and estrogen-related receptor-α.

peroxisome proliferator-activated receptor-γ

hypoxia


Input: The CCN4-induced VCAM-1 expression promoted monocyte adhesion to human OASFs.

adhesion


Input: Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non-Hispanic Caucasian women.

lipoprotein lipase gene

preeclampsia


Input: OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

autosomal dominant optic atrophy and cataract

autosomal dominant optic atrophy and cataract


Input: The KSR2 locus displayed pleiotropic associations with triglyceride and measures of blood pressure.

blood pressure


Input: POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation.


Input: Transient expression of the mitogen-activated protein kinase phosphatase MKP-1 (3CH134/ERP1) in the rat brain after limbic epilepsy.

epilepsy


Input: This translocation interrupts two genes, AML1 on chromosome 21q and MTG8 (ETO) on 8q to form a chimeric gene AML1/MTG8 on the der (8) chromosome.

translocation


Input: TGF & #946;-inducible early gene-1 (TIEG1) mutations in hypertrophic cardiomyopathy.

hypertrophic cardiomyopathy

hypertrophic cardiomyopathy


Input: These results indicate that the hypoxia-inducible enhancer of the human vascular endothelial growth factor gene, which is directly linked to human AFP promoter, involves selective and enhanced tumoricidal activity in gene therapy for hepatocellular carcinoma.

AFP

hypoxia


Input: Because of the evidence that Hodgkin' s lymphoma is a neoplasm of B cells, we examined cases of Hodgkin' s lymphoma for T-bet expression by immunohistochemical staining and found that neoplastic cells in most cases of classic Hodgkin' s lymphoma (33 of 37 cases, 89%), including nodular sclerosis type (17 of 21 cases, 81%) and mixed cellularity type (15 of 15, 100%), express T-bet.

T-bet

nodular sclerosis


Input: It has been shown earlier that the member of the NF-κB family of inflammation-associated transcription factors, p65/RelA, is cleaved during chlamydial infection, and a chlamydial protease has been implicated.

NF-κB

chlamydial infection


Input: Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia.

anauxetic dysplasia

anauxetic dysplasia


Input: The gene coding for PTGDS was found to be more expressed in patients with ADHD relative to patients with BP, indicating a possible link with the differential etiology of ADHD.

PTGDS

BP

PTGDS

BP


Input: Since an increase in the C-8/C-1 ratio was also observed in victims of multiple sclerosis but not other neurological diseases, the ND4 model may address primary changes prior to demyelination, while the EAE model addresses the autoimmune aspects of the disease.

demyelination


Input: These genes include tumor suppressors or candidates (VHL, CTDSPL, LRRC3B, ALDH1L1, and EPHB1) and genes that were not previously considered as cancer-associated (e. g., LRRN1, GORASP1, FGD5, and PLCL2).

cancer


Input: In BPD, the expression of HDAC4 mRNA was increased only in a depressive state, and the expression of HDAC6 and-8 was decreased in both depressive and remissive states compared to controls, whereas the first-degree relatives did not show any significant alteration in expression levels.

depressive state

depressive state


Input: A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

keratin 2e

ichthyosis bullosa of Siemens

keratin 2e

ichthyosis bullosa of Siemens


Input: In mice, quantitative trait locus studies and behavioral evaluation of animals deleted for 5-HT1B have implicated this serotonin autoreceptor in alcohol consumption and aggressive behavior.

alcohol consumption


Input: Near-triploid acute lymphoblastic leukemia with TEL/AML1 translocation.

translocation


Input: The mechanism by which impaired MECP2 activity can induce pathological abnormalities in the nervous system of patients with Rett syndrome (RTT) is not clearly understood.

nervous system


Input: EGFR mutations were more frequent in non-smoking patients (p = 0. 008), and EGFR mutations were associated with EGFR FISH positivity (p < 0. 0001).

EGFR

smoking


Input: These include older age, male gender, poor performance status, co-morbidities, degree of anemia, low absolute neutrophile count (ANC) and platelet counts, RBC transfusion requirements, high serum ferritin, high LDH, bone marrow (BM) fibrosis, increased number of BM CD34 + cells and multi-lineage dysplasia.

fibrosis


Input: Adrenomedullin had no effect on ANG II-or norepinephrine-induced left ventricular hypertrophy or expression of hypertrophy-associated genes, including contractile protein and natriuretic peptide genes.

ANG

ventricular hypertrophy


Input: Metformin has a dual effect by simultaneously increasing VEGFA and reducing CXCL10 and TIMP1 in CD34 (+) cells in a model of the diabetic state combined with hypoxia.

VEGFA

hypoxia


Input: AML1 is one of the genes most frequently deregulated in leukemia through different mechanisms including translocation, mutation and amplification.

translocation


Input: The frequency of the I27V mutation in the HBV core gene, which produces a core 18-27 peptide capable of binding HLA-A * 02, was compared in Chinese patients with severe liver inflammation (n = 77, including 39 with acute-on-chronic liver failure), moderate liver inflammation (n = 44) and inactive disease (n = 45).

HLA-A

acute-on-chronic liver failure


Input: In this study we have analyzed by in situ hybridization and immunohistochemistry the expression patterns of two antimicrobial peptides, human beta defensin-1 and human beta defensin-2, in healthy human hair follicles as well as in perilesional and intralesional skin of acne vulgaris lesions such as comedones, papules, and pustules.

beta defensin-2

comedones


Input: Hepatic microsomal cytochrome P450 (CYP2E1), induced in chronic alcohol abuse, is also reported to oxidize ethanol.

chronic alcohol abuse

chronic alcohol abuse


Input: BCL9-2 overexpression in vivo delayed the mammary involution and induced alveolar hyperplasia.

hyperplasia


Input: These results provide further evidence that STK11/LKB1 acts as a tumour suppressor gene, and may be involved in the early stages of PJS tumorigenesis.

tumorigenesis


Input: We further demonstrated that Pfn1 overexpression in MDA-MB-231 cells is associated with a significant reduction in the level of the phosphoinositide regulator of AKT, PIP (3), and impaired membrane translocation of AKT that is required for AKT activation, in response to EGF stimulation.

AKT

translocation


Input: In this study, we found that co-stimulating RA-FLSs with IL-17A and hypoxia did not appear to promote the epithelial-mesenchymal transition (EMT), but did increase cell motility.

hypoxia


Input: C/EBP-δ regulates VEGF-C autocrine signaling in lymphangiogenesis and metastasis of lung cancer through HIF-1α.

C/EBP-δ

lung cancer


Input: Mutations in the Na +/K +-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

rapid-onset dystonia parkinsonism

rapid-onset dystonia parkinsonism


Input: The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.

WD

WD


Input: Identification of a potential " hotspot " DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t (16; 21) translocation.

RUNX1 gene

translocation


Input: Collectively, these findings suggest down-regulation of Mcl-1 by either CDK inhibitors or genetic approaches dramatically potentiate ABT-737 lethality through cooperative interactions at two distinct levels: unleashing of Bak from both Bcl-xL and Mcl-1 and simultaneous induction of Bak activation and Bax translocation.

translocation


Input: SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.

22q13 deletion syndrome

22q13 deletion syndrome


Input: Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses.

high-frequency hearing impairment


Input: SBI-0089410 inhibited the 12-O-tetradecanoylphorbol-l3-acetate (TPA)-induced membrane translocation of protein kinase C (PKC) isoforms, whereas both compounds decreased ATF2 phosphorylation by PKCε and ATF2 transcriptional activity.

translocation


Input: Increased expression of the genes for pregnancy-associated plasma protein A (PAPPA), tomoregulin, cellular retinoid acid binding protein 1 (CRABP1), zinc finger protein 185 (ZFP 185) and latent transforming growth factor beta binding protein 2 (LTBP2) was demonstrated in individual leiomyoma samples compared with corresponding myometrium.

tomoregulin

leiomyoma


Input: MAGE-C1/CT7 and MAGE-C2/CT10 were both detected in 40% of melanoma metastases.

metastases


Input: The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17.

translocation


Input: NNT mRNA expression is significantly higher in visceral fat of obese patients and correlates with body weight, BMI,% body fat, visceral and sc fat area, waist and hip circumference, and fasting plasma insulin (FPI).

NNT

hip circumference


Input: Influence of NQO1, ALDH2, and CYP2E1 genetic polymorphisms, smoking, and alcohol drinking on the risk of lung cancer in Koreans.

smoking


Input: Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

congenital ichthyosis

congenital ichthyosis


Input: Meanwhile, treatment with quercetin induced appearance of autophagic vacuoles, formation of acidic vesicular organelles (AVOs), conversion of LC3-I to LC3-II, recruitment of LC3-II to the autophagosomes as well as activation of autophagy genes, suggesting that quercetin initiates the autophagic progression in gastric cancer cells.

autophagic vacuoles


Input: Although the exact mechanism is unknown, PTTG participates in the pathogenesis of various tumors, including pituitary tumors, by inducing aneuploidy and upregulating FGF-2, a potent mitogenic and angiogenic factor.

PTTG

aneuploidy


Input: Computational analyses predicted a severe structural impairment for FtMt variant and a mild destabilizing effect for ABCA4.

FtMt

mild


Input: We found that IPost increased the formation of autophagic vacuoles, the autophagic-related protein levels of LC3-II, Beclin1, lysosome-associated membrane protein 2, and cathepsin D, and the mRNA level of LC3 and Beclin1 in the risk zone of the postconditioned hearts.

autophagic vacuoles


Input: We identified six novel associations with resting heart rate at six loci: 6q22 near GJA1; 14q12 near MYH7; 12p12 near SOX5, c12orf67, BCAT1, LRMP and CASC1; 6q22 near SLC35F1, PLN and c6orf204; 7q22 near SLC12A9 and UfSp1; and 11q12 near FADS1.

PLN

heart rate


Input: Our data suggest that ErbB3 might be considered as a biomarker for MDD and that its deficit may underlie the pathophysiology of the disease and is not a consequence of treatment.

MDD

MDD


Input: These novel data demonstrate the role of HDAC2-mediated epigenetic mechanisms in anxiety and alcoholism.

alcoholism

alcoholism


Input: Use of reverse transcription-polymerase chain reaction methodology to detect estrogen-regulated gene expression in small breast cancer specimens.

estrogen-regulated gene

breast cancer


Input: Three established human glioma cell lines, T98G, U87, and U138, were chemoresistant cells.

glioma


Input: The major limitation of this meta-analysis is that we could not assess the interaction between stroke, environmental stress and PSD.

PSD

stroke


Input: The results revealed that the high resistance of genetically engineered IL-10-/-(IL-10KO) mice to genital chlamydial infection is a function of the predilection of their APCs to rapidly and preferentially activate a high Th1 response.

chlamydial infection


Input: These results suggest that the effect of topiramate on drinking behavior, in which the GluK1-containing kainate receptor appears to play a key role, can be dissociated from its effect on weight, the specific mechanism of which remains to be determined.

weight