Input: In this report we describe the pregnancy outcomes in three CDH1 mutation positive women after PTG and in a CDH1 mutation negative woman after total gastrectomy for early gastric cancer.

PTG

early gastric cancer


Input: In RT-PCR, amplified fragments of the expected sizes (247bp) were detected in 90 of 90 samples examined, and the semiquantitative RT-PCR result showed an up-regulation of GHR mRNA expression during the polyp-adenoma-carcinoma sequence, which was consistent with the immunohistochemical results.

GHR

polyp


Input: Our results indicate that SCN8A may be a potential susceptibility gene for bipolar disorder in the Han Chinese population.

bipolar disorder

bipolar disorder


Input: The effects of MT1F expression on RKO cell survival and tumorigenesis was analyzed.

tumorigenesis


Input: TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

pontocerebellar hypoplasia type 1

pontocerebellar hypoplasia type 1


Input: Interleukin-6 is a potent inducer of S100P, which is up-regulated in androgen-refractory and metastatic prostate cancer.

metastatic prostate cancer


Input: Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.

McKusick-Kaufman syndrome

McKusick-Kaufman syndrome


Input: The mean TRF length tended to decrease as the mucosa underwent chronic atrophy gastritis, intestinal metaplasia, dysplasia and into gastric cancer.

TRF

gastric cancer


Input: The observation of BRCA2-26 G/A 5' UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.

sporadic


Input: We addressed the role of C5a on tumor growth by transfecting both human carcinoma and murine lymphoma with mouse C5a.

carcinoma


Input: The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS, suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis.

MFS

MFS


Input: Separating passive smokers from the nonexposed impacts on the inference about a possible NAT2-smoking interaction.

smoking


Input: The triad of microcephaly, generalized seizures, and permanent neonatal diabetes should prompt screening for mutations in IER3IP1.

generalized seizures


Input: T-lymphocyte maturation-associated protein gene as a candidate metastasis suppressor for head and neck squamous cell carcinomas.

T-lymphocyte maturation-associated protein

squamous cell carcinomas

T-lymphocyte maturation-associated protein

squamous cell carcinomas


Input: This stimulation of MDM2 sumoylation is accomplished through a direct interaction of SKI with SUMO-conjugating enzyme E2, Ubc9, resulting in enhanced thioester bond formation and mono-sumoylation of Ubc9.

SKI

mono


Input: Taken together, our results strongly suggest that the HCV core-induced epigenetic silencing of SFRP1 may lead to the activation of the Wnt signaling pathway and thus contribute to HCC aggressiveness through induction of EMT.

HCC

aggressiveness


Input: Some of the p53 mutants identified in BRCA1 and BRCA2 mutation carriers are either previously undescribed or infrequently reported in sporadic human cancers.

sporadic


Input: The blockade of both enzymatic activities (kinase and endoribonuclease) of ERN1 in glioma cells led to a significant down-regulation of the expression of IGFBP1, IGFBP2, and IGF2BP3 genes and strong up-regulation of HTRA1.

glioma


Input: Recently, many new functions and properties of GRO-α/CXCR2 system have been discovered and associated with atherosclerosis, angiogenesis, and many inflammatory conditions, such as autoimmune diseases.

autoimmune diseases


Input: The E3 ligase synoviolin controls body weight and mitochondrial biogenesis through negative regulation of PGC-1β.

synoviolin

body weight


Input: In this study, we assessed γ-secretase activity in brain samples from 15 nondemented subjects, 22 FAD patients harboring nine different mutations in PSEN1, and 11 sporadic AD (SAD) patients.

FAD

sporadic


Input: We examined S100P expression in 45 bulk pancreatic tissues; in microdissected cells, including invasive ductal carcinoma (IDC) cells (20 sections), pancreatic intraepithelial neoplasia (PanIN) cells (12 sections), intraductal papillary mucinous neoplasm (IPMN) cells (19 sections), and normal epithelial cells (11 sections); and in pancreatic juice samples from 99 patients with pancreatic diseases (32 cancer, 35 IPMN, and 32 chronic pancreatitis samples).

chronic pancreatitis


Input: The mean diameter of the 10 additional LNs with OCM found at SS only and of the 6 additional LNs found at IHC only was significantly lower than the mean diameter of the 28 metastases found at routine pathologic examination (RPE) (P <. 0001).

RPE

metastases


Input: The IGR-CaP1 cell line is a unique model derived from a primary tumor, which can reconstitute human prostate adenocarcinoma in animals and generate experimental bone metastases, providing a novel means for understanding the mechanisms of bone metastasis progression and allowing preclinical testing of new therapies.

bone metastasis


Input: In contrast, in sporadic forms of cancer there is frequent absence of a second event (point mutations) suggesting that allelic imbalance at the BRCA2 locus may be associated with a " gene dosage effect " of BRCA2 function.

sporadic


Input: A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital.

LEPR

height


Input: ACTB and TB10 mRNAs were also decreased in bipolar disorder.

bipolar disorder

bipolar disorder


Input: The effect of vector-based survivin short hairpin RNA (shRNA) on the malignant phenotype of HCC cells in vitro and in vivo was determined, and an adenovirus-mediated shRNA expression vector was developed to decrease survivin expression of the established HCC tumor in nude mice.

HCC

adenovirus


Input: We here report that the cellular ceramide/S1P ratio is a critical biosensor for predicting pancreatic cancer cell sensitivity to gemcitabine.

pancreatic cancer


Input: Expression profiling for cancer stem cell-related genes suggested that FoxQ1 may negatively regulate the expression of Dachshund homolog 1 (DACH1), whose expression is lost in invasive breast cancer.

breast cancer

breast cancer


Input: Here, we report that, compared to adjacent non-cancerous tissues, expression of PU. 1 mRNA in metastatic hepatocellular carcinoma (HCC), but not primary HCC, was significantly down-regulated.

PU. 1

metastatic hepatocellular carcinoma


Input: A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

luteinizing hormone receptor

Leydig cell hypoplasia

luteinizing hormone receptor

Leydig cell hypoplasia


Input: Only one missense mutation of the hMSH2 gene was identified in 45 patients (2 percent) with sporadic early-onset colorectal cancer.

colorectal cancer

colorectal cancer


Input: Although TxNs had higher levels of externalizing symptoms, social deviance, and familial density of alcoholism compared with controls, these variables were only modestly elevated compared with previous samples of long-term abstinent alcohol-dependent individuals who showed decision-making deficits on the SGT.

SGT

alcoholism


Input: Specifically, the minimal SMN promoter is four times more active in undifferentiated embryonal carcinoma P19 cells compared to cells treated with retinoic acid (RA) to initiate neuronal differentiation.

SMN

embryonal carcinoma


Input: MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.

MPAN

lower limb spasticity


Input: In summary, our study demonstrated that HIF-1 and NF-κB are essential for hypoxia-regulated CX3CR1 expression, which is associated with increased migratory and invasive potential of prostate cancer cells.

hypoxia


Input: Histologically, CD4 + and CD8 + T-cells were present in the sarcoidosis infiltrations.

sarcoidosis


Input: This study shows for the first time that CRF1 receptors in the amygdala contribute critically to pain-related anxiety-like behavior and nocifensive responses in a model of arthritic pain.

arthritic pain


Input: Nonobese diabetic/severe combined immunodeficient human leukemia mouse model also revealed that PTL preferentially targets the MPO-high AML cells.

PTL

leukemia


Input: We examined the presence of extranodal marginal zone lymphoma-associated translocations, t (11; 18) (q21; q21), t (1; 14) (p22; q32), t (14; 18) (q32; q21), t (3; 14) (p14. 1; q32) and numerical aberrations of chromosomes 1, 3, 12 and 18 by fluorescence in situ hybridization in 6 extranodal marginal zone lymphomas and 24 diffuse large B-cell lymphomas with (n = 9) or without (n = 15) marginal zone lymphoma components, with primary localizations in the breast (n = 15), testis (n = 9) and thyroid (n = 6).

marginal zone lymphoma


Input: Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.

deformities


Input: After statistical adjustment for body fat content, increasing AT-ENPP1 was associated with up-regulation of genes involved in NEFA metabolism and inflammation, increased postabsorptive NEFA levels, decreased plasma adiponectin, increased liver triglyceride content, and systemic insulin resistance in men.

NEFA

insulin resistance


Input: Elevated PTHrP expression in colon cancer may thus upregulate integrin alpha6beta4 expression, with consequent PI3-K activation.

colon cancer


Input: Here we show that KLF13 and FGFR3 are overexpressed in oral cancer cells.

oral cancer


Input: In this report, we investigated the methylation status of the p16INK4a cell cycle inhibitor gene and other prominent tumor-related genes (PTEN, RASSF1 A, CDH1, MSH2, MLH1, VHL, and TIMP3) in sporadic and multiple endocrine neoplasia type 2 (MEN2) pheochromocytomas by methylation-specific PCR.

sporadic


Input: Radioligand assays and Scatchard analysis revealed a single class of high affinity IGF-IR binding sites with a similar dissociation constant (Kd: 0. 32 +/-0. 1 nmol/l vs 0. 22 +/-0. 08 nmol/l) for both normal adrenomedullary cells and pheochromocytomas.

IGF

dissociation


Input: This study suggests that, at least in the Korean population, the GSTM1 polymorphism may confer susceptibility to the development of schizophrenia but not to tardive dyskinesia.

dyskinesia


Input: We measured NEP2 and NEP mRNA levels from non-impaired (NI), mild cognitive impaired (MCI), and clinical Alzheimer' s disease (AD) subjects in the mid-temporal gyrus, mid-frontal gyrus, caudate, and cerebellum.

NEP

mild


Input: CONCLUSION: MR-1 is an important variable that can be used to evaluate the outcome, prognosis and targeted therapy of gastric cancer patients.

gastric cancer


Input: These results verify that EphA2 is an important oncogene and potentially a common source of' addiction' for many melanoma cells.

addiction


Input: Twenty-four hours prior to ischemia surgery, 1 microl of HSVbcl-2 was infused unilaterally into the CA1 region at a rate of 2 nl/min.

ischemia


Input: We have reported the presence of a specific mutation (ATG50--> AGG) or deletion of codon 50 of the ARP gene in different tumor types (Shridhar et al., 1996, 1996a).

ARP

tumor


Input: We demonstrated that the increased RGC-32 expression by hypoxia was via hypoxia-inducible factor-1/vascular endothelial growth factor induction in cultured endothelial cells.

hypoxia


Input: In a family with multiple gastrointestinal stromal tumors and diffuse hyperplasia of myenteric plexus layer, we have identified another mutation of KIT, a single base mutation, resulting in the substitution of Glu for Lys (642) in the kinase I domain, and studied its biological effect in a cellular system.

KIT

gastrointestinal stromal tumors

KIT

gastrointestinal stromal tumors


Input: Several distinct phenotypes caused by the PRPH2 c. 828 + 3A > T mutation were observed and fell into two clinical categories: Group I (N = 44) with mild pattern dystrophies (PD) and Group II (N = 18) with more severe cone-rod dystrophy (CRD), retinitis pigmentosa (RP), and central areolar chorioretinal dystrophy (CACD).

mild


Input: Heat shock protein 20 (HSP20), which is a member of the small heat shock protein family, is known to participate in many pathological processes, such as asthma, intimal hyperplasia, and insulin resistance.

insulin resistance


Input: Familial febrile seizures is caused by mild loss-of-function mutations in NaV1. 1 channels; mutations in these channels are implicated in febrile seizures associated with vaccination; and impaired alternative splicing of the mRNA encoding these channels may also predispose some children to febrile seizures.

NaV1. 1

mild


Input: Bile acid excretion and cholesterol 7 alpha-hydroxylase expression in hypercholesterolemia-resistant rabbits.

cholesterol 7 alpha-hydroxylase

hypercholesterolemia

cholesterol 7 alpha-hydroxylase

hypercholesterolemia


Input: Strikingly, in a murine model of adoptive transfer of autoimmune diabetes, miR-29b reduces the cytolytic activity of transferred effector CD8 + T-cells, insulitis and disease incidence in a single standalone intervention.

autoimmune diabetes


Input: Rapamycin administration at 0. 8 mg/kg/day for 7 days resulted in enhanced atrophy and attenuated the phosphorylation of ERK1, STAT3, and p70S6K without altering gene expression.

atrophy

atrophy


Input: Using three different oncogene-driven mouse mammary tumor models and cell-fate mapping strategies, we show in vivo evidence for the existence of EMT in breast cancer and show that myc can specifically elicit this process.

EMT

mammary tumor


Input: WT1 is also expressed in mesothelial cells; a specific oncogenic chromosomal translocation fusing the N-terminal domain of the Ewing sarcoma gene EWS to the three C-terminal zinc fingers of WT1 underlies desmoplastic small round cell tumor, an abdominal tumor thought to arise from the peritoneal lining.

EWS

chromosomal translocation


Input: Here we show that amyloid-β (Aβ) accumulation, which plays a primary role in the cognitive deficits of AD, interferes with CREB activity.

CREB

amyloid


Input: Among African-American women, ORs for the duration of smoking were elevated among women with XRCC1 codon 399 Arg/Arg genotype (trend test; P < 0. 001) but not Arg/Gln or Gln/Gln (P = 0. 23).

smoking


Input: Mouse Epo-secreting MSCs were generated, tested in vitro, and then implanted by intraperitoneal injection in allogeneic mice previously administered cisplatin to induce AKI.

Epo

AKI

Epo

AKI


Input: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: We have analysed 31 malignant neuroblastoma with or without MYCN amplification and 13 benign ganglioneuroma and we have observed dramatic differences in the methylation pattern of five genes (CASP8, 14. 3. 3sigma, DeltaN-p73, RASSF1A and DCR2) between these tumors indicating that this phenomenon is not tissue-specific and can be considered as cancer-dependent.

ganglioneuroma


Input: A significant positive correlation was found between 11β-HSD-1 expression in EA tissue and waist hip ratio and 11β-HSD-1 expression in AA tissue and body mass index, while a negative correlation was found between 11β-HSD-1 expression in EA tissue and HDL.

waist hip ratio


Input: Two point mutations affecting different domains of Cx32 were identified in two CMTX patients.

CMTX

CMTX


Input: The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).

arteritis

arteritis


Input: To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT).

CFH

telangiectasia


Input: We investigated whether TWEAK is upregulated in human middle ear cholesteatoma compared to the skin of the normal external auditory canal (EAC).

TWEAK

middle ear cholesteatoma


Input: Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2 and achondrogenesis 1B (ACG-1B).

ACG

diastrophic dysplasia


Input: To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH) at the APC locus, microsatellite instability (MSI), and methylation of the MLH1 promoter) in 103 tumours from 102 individuals.

sporadic


Input: Statistical comparison of 10 patients who were homozygous for the dF508 mutation of CFTR with 20 patients heterozygous for dF508 revealed no significant differences for height, weight, pulmonary function, resting-energy expenditure, VO2max, or any other exercise variables.

CFTR

height


Input: Further studies are needed to reproduce the current finding and to understand the biological relationship between IRAK1 and inflammation related to atherosclerosis.

inflammation


Input: Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy).])

LCAT

corneal amyloidosis


Input: Our detailed analyses of a novel target of EWS/WT1 in DSRCT reveal an insight into the oncogenic mechanism of EWS-fusion chromosomal translocation gene products and provide a new marker for DSRCT.

EWS

chromosomal translocation


Input: There was no correlation between MRP1 expression and age, gender, WBC count, LDH, hypercalcemia, blood urea nitrogen, or performance status.

hypercalcemia


Input: In five cases of unexplained PSIS including two familial cases, we identified a novel heterozygous frameshift and nonsense and missense mutations in the ROBO1 gene (p. Ala977Glnfs * 40, two affected sibs; p. Tyr1114Ter, sporadic case, and p. Cys240Ser, affected child and paternal aunt) that controls embryonic axon guidance, and branching in the nervous system.

PSIS

PSIS


Input: In vitro analysis demonstrated that IL-12 p40 suppressed IFN-gamma production in developing and effector Th1 populations, indicating its potential to modulate Th1-promoted inflammation.

inflammation


Input: Patients with severe combined immunodeficiencies bearing mutations of adenosine deaminase, adenylate kinase 2, interleukin-2 receptor gamma chain, and Janus kinase 3 genes present NKDs and are prone to a broad range of infections.

adenosine deaminase

infections


Input: The Sip1/E-cadherin ratio was higher in primary ovarian carcinomas at the time of diagnosis compared with postchemotherapy ovarian carcinoma effusions (P = 0. 003), higher in Stage IV tumors compared with Stage III tumors (P = 0. 049), and higher in pleural effusions compared with peritoneal effusions (P = 0. 044).

pleural effusions


Input: Taken together, most missense and in-frame MEN1 genomic alterations affect one or all domains of menin interacting with JunD [codons 1-40; 139-242; 323-428], Smad3 [distal to codon 478], and NFkappaB [codons 276-479], three major effectors in transcription and cell growth regulation.

menin

menin


Input: Recently, NPM1 has been implicated in the tumorigenesis processes.

tumorigenesis


Input: It is indicated that blood concentrations, liver function, graft weight, and polymorphism in the ABCB1 gene are important factors in tacrolimus-induced neurotoxicity.

neurotoxicity

neurotoxicity


Input: Since MIF also has tautomerase activity and blocking tautomerase activity also blocks MIF' s biological activity, we hypothesized that blocking MIF' s tautomerase activity would prevent bladder inflammation.

MIF' s

bladder inflammation


Input: Spinal ERK1/2 activation with capsaicin treatment correlated with the development of prolonged referred hyperalgesia.

hyperalgesia

hyperalgesia


Input: The LOD score method was used to test for linkage of late-onset FAD to the chromosome 14 markers, under three different models: age-dependent penetrance, an affected-only analysis, and age-dependent penetrance with allowance for possible age-dependent sporadic cases.

FAD

sporadic


Input: The TBE-1 cells expressed phosphorylated v-Ha ras polypeptide p21, showed a reduced requirement for growth-factor supplements, and became aneuploid as an early cellular response to v-Ha ras expression.

aneuploid


Input: Recent work in genetically hypertensive rats has shown linkage of blood pressure with alleles of the renin gene.

renin gene

blood pressure


Input: Taken together, our results show that RFP works as a novel E3 ligase in the Pax7-mediated degradation of MyoD in response to skeletal muscle atrophy.

skeletal muscle atrophy


Input: Serum calcium was the only significant marker of Klotho expression in multivariate analysis with calcium, phosphate, PTH, and adenoma weight as independent variables.

PTH

weight


Input: The remaining defects were detected only in patients with venous occlusive disease (activated protein C resistance in 11. 2% of patients, protein S or C deficiency in 6. 6%, and plasminogen deficiency in 0. 9%), with an overall prevalence of 18. 7% (CI, 12. 1% to 27. 6%).

protein S

plasminogen deficiency


Input: There should be no dysplasia, monocytosis, molecular evidence of BCR-ABL1, PDGFRA, PDGFRB, or FGRF1 rearrangements and no identifiable cause for physiologic neutrophilia or, if present, demonstration of myeloid clonality.

PDGFRA

monocytosis


Input: To study the potential application of these agents, the expression of DR4 and DR5 were studied immunohistochemically in colorectal adenomas and carcinomas from patients with sporadic disease (n = 74 and 56, respectively), familial adenomatous polyposis (FAP, n = 41 and 4, respectively) and hereditary non-polyposis colorectal cancer (HNPCC, n = 50 and 21, respectively).

polyposis


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

SEMD

microcephaly


Input: In silico analysis of gene expression profiles from studies that assessed the effects of KLF2 overexpression in vitro and atherosclerosis in vivo on endothelial cells, identifies AQP1 as KLF2 downstream gene with elevated expression in the plaque-free vessel wall.

plaque


Input: ApoA-I GT reduced the development of streptozotocin-induced diabetic cardiomyopathy.

ApoA-I

diabetic cardiomyopathy

ApoA-I

diabetic cardiomyopathy


Input: In fibromyalgia (FM) patients, differences in glucocorticoid receptor (GR) affinity and disturbances associated with loss of hypothalamic-pituitary-adrenal (HPA) axis resiliency have been observed.

HPA

fibromyalgia


Input: Mouse models of gastrointestinal malignancy implicate Stat3 as a key mediator of inflammatory-driven tumorigenesis, in which its cytokine/gp130/Janus kinase (Jak)-dependent activation provides a functional link through which the microenvironment sustains tumor promotion.

tumor promotion


Input: Overexpression of either C. elegans CLHM-1 or human CALHM1 in neurons is toxic, causing degeneration through a necrotic-like mechanism that is partially Ca (2 +) dependent.

necrotic


Input: Several loop-mediated isothermal amplification (LAMP) assays have been developed to detect common causative pathogens of bacterial meningitis (BM).

LAMP

bacterial meningitis


Input: c-Jun N-terminal kinases (SAPK/JNKs) are activated by inflammatory cytokines, and JNK signaling is involved in insulin resistance and beta-cell secretory function and survival.

SAPK

insulin resistance


Input: These results indicated that CD8 (+) CD4 (+) and CD8 (+) CD4 (-) leukemia cell populations had distinct drug sensitivity.

leukemia


Input: GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by beta-galactosidase deficiency due to mutations in the GLB1 gene.

Morquio B disease

Morquio B disease


Input: Such a study design exemplifies the strategy needed to clearly define the contribution of the ACE gene to the plethora of complex genetic diseases where weak associations have been previously reported.

ACE gene

plethora


Input: The EGFR gene was amplified in 52% of tumors; in 44% associated with trisomy/polysomy 7, and in 36% with monosomy 10.

EGFR gene

trisomy


Input: Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.

sporadic


Input: GP gene expression is also elevated in AAV patients, which is not explained by skewed distribution of CD177 + and CD177-subsets but may be associated with neutrophil activation during on-going inflammation.

AAV

inflammation


Input: Stepwise Logistic regression analysis revealed that male, smoking, history of hypertension, history of diabetes, family history of hypertension, high level of serum cholesterol, and ANP T2238C polymorphism were the possible risk factors in patients with CHD (P < 0. 05).

ANP

smoking


Input: Despite the limited sample size, these results exclude a major effect of the 5-HTR2a polymorphism on bipolar disorder and HA personality trait but not a minor effect.

personality trait


Input: Spontaneous mammary tumors of BALB/c and C3H origin, which also showed an MPA-I pattern of tumor growth, had high levels of EGF-R. We postulate that MPA has a direct effect on mammary tumor cells in MPA-D lines and that the expression of EGF-R is correlated with an autonomous pattern of growth.

EGF

mammary tumor


Input: Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

PTEN

Bannayan-Zonana syndrome

PTEN

Bannayan-Zonana syndrome


Input: In this paper, we report the identification of three new mutations of the keratin 1 chain of epidermolytic hyperkeratosis probands in highly conserved residues in the H1 or beginning of the 1A rod domain segments.

keratin 1

epidermolytic hyperkeratosis

keratin 1

epidermolytic hyperkeratosis


Input: One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.

major depressive episode

major depressive episode


Input: These studies demonstrate that IGF peptides regulate CM concentrations of IGFBP-3 through non-receptor mediated events, including dissociation of cell surface-associated IGFBP-3 and protection of IGFBP-3 from protease activity.

IGF

dissociation


Input: XRCC1 399Gln and XRCC3 241Met are deficient in the repair of X-ray-, but not UV-light-induced chromosome aberrations, therefore the variant genes are defective in base excision repair.

chromosome aberrations


Input: We examined the relationship between a common, functional polymorphism of the human sEH gene and coronary artery calcification (CAC) in young, largely asymptomatic African-American and non-Hispanic white subjects.

CAC

coronary artery calcification


Input: In the colon, HD-5, HD-6, and sPLA2 were increased during inflammation in wild-type but not in NOD2 mutated patients.

inflammation


Input: Amplification of 8p12-p11 is relatively common in breast cancer and several genes within the region have been suggested to affect breast tumor progression.

tumor progression


Input: Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.

glycophorin C

elliptocytosis

glycophorin C

elliptocytosis


Input: The clinicopathologic features and carcinogenesis of RER-positive sporadic colorectal cancers were considered different from those of RER-negative tumors.

RER

carcinogenesis


Input: Individuals with a history of gangrenous appendicitis demonstrated ability to increased IL-10 and IFN-gamma production.

IFN

appendicitis


Input: Tissue mRNA of VEGF-165, VEGF-189 and their receptor KDR was assessed by a semi-quantitative retro-transcriptase polymerase chain reaction, and expressed as target transcript/beta-actin ratio, in 29 patients with HCC, 26 with cirrhosis and 15 with chronic hepatitis.

HCC

chronic hepatitis


Input: This region contains hMunc13-4, a member of the Munc13 family of proteins involved in vesicle priming function.

vesicle


Input: This may affect the cytokine milieu at the materno-fetal interface and could be implicated in the attenuated Th1 responses observed commonly in infants of atopic mothers.

atopic


Input: Moreover, IL-6 injections restored the transcriptional activity of the manganese-superoxide dismutase promoter through recovery of the recruitment of STAT3 to the manganese-superoxide dismutase promoter and reduced infarct volume after tFCI.

infarct


Input: The hypoxic cancer secretome induces pre-metastatic bone lesions through lysyl oxidase.

lysyl oxidase

hypoxic


Input: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Hunter syndrome

Hunter syndrome


Input: These results suggest that VEGF-D is crucial for CD74-induced human renal carcinoma cancer cell tumorigenesis.

tumorigenesis


Input: The aim of this study is to analyze the segregation of the 102T/C polymorphism in the serotonin 2A receptor gene in patients affected by sporadic and familial Alzheimer' s disease (FAD) with and without psychotic symptoms.

FAD

sporadic


Input: In the present study, we demonstrated a pivotal role of H6PD in proliferation and migratory potential of 3 human breast cancer cell lines.

breast cancer

breast cancer


Input: We propose that LZTFL1 may inhibit tumorigenesis by stabilizing E-cadherin-mediated adherens junction formation and promoting epithelial cell differentiation.

tumorigenesis


Input: Colonic polyps, cancer, and normal mucosa were evaluated for 5-LOX expression by immunohistochemistry.

Colonic polyps

Colonic polyps


Input: We have investigated whether hypoxia influences CD40-CD40L mediated vascular inflammatory responses, ROS production, and cellular interactions.

hypoxia


Input: Twelve common SNPs in TP53 were genotyped in a case-control study of sporadic OS.

sporadic


Input: Because ACE2 deficiency promoted AAA formation in AngII-infused mice, we determined whether ACE2 activation suppressed AAAs.

AAA

AAA


Input: After our initial case identifications, we explored 2 large cohorts of patients with wild-type forkhead box protein 3 and an immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX)-like phenotype for STAT1 mutations.

enteropathy


Input: Within each race/ethnicity, we assessed genetic associations of the I/D variant with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension, as well as genotype-sex interactions, in four genetic models (additive, dominant, recessive, and codominant).

DBP

systolic blood pressure


Input: In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects.

ATM

AT

ATM

AT


Input: The four patients had typical skeletal and ocular phenotypes of OPS, namely severe juvenile osteoporosis and early-onset visual disturbance, with or without mental retardation.

OPS

juvenile osteoporosis


Input: The differential expression of seven genes, involved in multiple cellular processes such as signal transduction (MIC-1), differentiation (DMBT1 and Neugrin), immune response (CD74), inflammation (CXCL2), cell cycle (CEB1) and enzymatic activity (Kallikrein 6), was confirmed by either immunohistochemical labeling of tissue microarrays (Kallikrein 6, CD74 and DMBT1) or by RT-PCR (CEB1, Neugrin, MIC1 and CXCL2).

inflammation


Input: Reciprocal relationship in gene expression between FGFR1 and FGFR3: implication for tumorigenesis.

tumorigenesis


Input: Circulating SHBG is strongly associated with systemic metabolism and predictive for insulin resistance and diabetes.

SHBG

insulin resistance


Input: Patients included in this study were those who fulfilled the diagnostic criteria of urosepsis, APN, and ALN, without underlying disease or structural anomalies, excluding those with vesicoureteral reflux.

ALN

vesicoureteral reflux


Input: Karyotypic analysis of PC-3 by Q-and C-banding showed the cells to be aneuploid at all culture passage levels.

aneuploid


Input: Intracellular Abeta42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer' s disease.

neurodegeneration


Input: The evidence supports the hypothesis that Th1/Th2 imbalance in asthmatic inflammation may be a result of premature apoptosis within the Th1 subset.

inflammation


Input: The most apparent differences were a higher incidence of abnormal BAEPs at brainstem level (p < 0. 002), and of both peripheral and possible central SEP impairment in hereditary cerebellar-plus syndrome than in sporadic cerebellar-plus syndrome (p < 0. 03).

SEP

sporadic


Input: Together with the significant decrease of PINK1 mRNA levels in human ALS muscle tissue, statistically nonsignificant reduction of DJ-1 mRNA levels, and reduced immunostaining for PINK1 in human ALS muscle, the results suggest potential pathophysiologic roles for these proteins in both mutant SOD1 transgenic mice and in sporadic ALS (G93A).

sporadic


Input: Our goal was to evaluate growth patterns in terms of body height, weight, head and chest circumference in patients with mucopolysaccharidosis type I (MPS I) without treatment and after enzyme replacement therapy (ERT) with alpha-l-iduronidase (laronidase).

alpha-l-iduronidase

body height


Input: In the present study we examined the role played by miR-137 in breast tumorigenesis.

tumorigenesis


Input: Pin1 mRNA expression in blood samples from patients with lung cancer, controls with benign lung disease, and healthy subjects were determined by a real-time reverse transcriptase polymerase chain reaction.

lung disease


Input: GPC3 protein was positive in sera of 40. 0% (16/40) of HCC patients, and negative in sera from subjects with liver cirrhosis (LC) (0/13), chronic hepatitis (CH) (0/34), and healthy donors (0/60).

HCC

chronic hepatitis


Input: The genes for both Shiga toxins I and II (stx1 and stx2, respectively) were detected in all but one isolate (sporadic case), and Shiga toxin production by the day care center isolates was not significantly different from that of the other isolates, including the three HUS-associated isolates.

sporadic


Input: Can the TLR-4-mediated signaling pathway be " a key inflammatory promoter for sporadic TAA "?

sporadic


Input: One hundred subjects, with or without CV risk factors, were enrolled to evaluate plasma and erythrocyte redox status (GSH, homocysteine, cysteine, cysteinylglycine), antioxidant vitamins (alpha-tocopherol and ascorbate), malondialdehyde, a lipid peroxidation product, and the presence of the GCLC-129 C/T polymorphism; an experimental hyperhomocysteinemia after methionine-induced stimulation of transsulfuration pathway was performed in 91% of enrolled subjects.

GCLC

hyperhomocysteinemia


Input: We analyzed 14 single nucleotide polymorphisms (SNPs) within 7 inflammasome genes (NLRP1, NLRP3, NLRC4, AIM2, CARD8, CASP1, IL1B) in 144 patients affected by systemic lupus erythematosus and in 158 healthy controls from Southern Brazilian (state of São Paulo) with the aim of disclosing the possible role of inflammasome genes in the susceptibility of SLE.

systemic lupus erythematosus


Input: AIM: Epidermal growth factor receptor (EGFR) mutational status is a crucial biomarker for prediction of response to tyrosine kinase inhibitors in patients with non-small cell lung cancer (NSCLC).

AIM

non-small cell lung cancer


Input: Application of bradykinin to the exposed ventricular surface of the dog' s heart produced reflex pressor effects and tachycardia, whereas application of nicotine evoked reflex hypotension and bradycardia.

bradykinin

tachycardia

bradykinin

tachycardia


Input: In humans, the majority of ErbB2-positive sporadic breast cancers harbor p53 mutations, which correlate with poor prognosis.

sporadic


Input: We found that the levels of HtrA2 and HtrA3-S were higher in thyroid malignant tumors compared to normal tissues and benign tumors.

benign tumors


Input: Here, we investigated the antitumor effect of adenovirus-mediated gene transfer of LIGHT, the tumor-necrosis factor (TNF) superfamily member also known as TNFSF14, in the murine A20 B-cell lymphoma.

adenovirus


Input: It is not known whether somatic MSH2 methylation occurs in MSH2 mutation-positive Lynch syndrome subjects or sporadic colorectal cancers (CRC).

sporadic


Input: Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

myelodysplastic syndromes

myelodysplastic syndromes


Input: While experimental clinical approaches (mostly applying clamp techniques) in humans confirmed correlations of RBP4 with insulin resistance, studies in larger groups out of clinical routine failed to demonstrate a connection with alternative measures of insulin sensitivity.

insulin sensitivity


Input: The IL2RG gene encoding the gamma chain of the lymphocyte receptor for IL-2 lies in human Xq13. 1 and is mutated in males with X-linked severe combined immunodeficiency (SCID).

X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency


Input: Epidermal growth factor and its receptor (EGF-R) in human pituitary adenomas: EGF-R correlates with tumor aggressiveness.

EGF

aggressiveness


Input: CCN1-induced Wnt signaling mediated, at least in part, adhesion and endothelial differentiation of cultured HSCs, and inhibition of Wnt signaling interfered with normalization of the retinal vasculature induced by CCN1-primed HSCs in OIR mice.

adhesion


Input: MIF mRNA expression was slightly higher in obese subjects than in normal-weight subjects (1. 38-fold), while soluble MIF levels did not show differences between groups.

MIF

weight


Input: Administration of a PDGF-A antagonist greatly reduced bone resorption, osteomalacia, and bone marrow fibrosis in a rat model for hyperparathyroidism, suggesting that PDGF-A is a causative agent for this disease.

PDGF-A

bone resorption


Input: These results point to a possible role for EPO as the mediator of cortisol-induced hypertension.

EPO

hypertension

EPO

hypertension


Input: Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (825C-> T in the G protein beta3 subunit gene and 190G-> A in the CC chemokine receptor 2 gene) were significantly associated with hypertension in men and that one polymorphism (-238G-> A in the tumor necrosis factor-alpha gene) was significantly associated with hypertension in women.

tumor necrosis factor

smoking


Input: These associations remained statistically significant for CpG sites in CTNNA2, KLK7, NPY2R, ZNF132 and KCNK17 in 20 non-smoking women after adjustment for tumor stage and age.

smoking


Input: Since this discovery, the WNK-OSR1/SPAK-NCC signaling cascade has been shown to be involved not only in PHAII but also in the regulation of blood pressure under normal and pathogenic conditions, such as hyperinsulinemia.

hyperinsulinemia


Input: In a blinded cohort study of patients with an elevated CA125 levels (30-500 kU/L) and a pelvic mass from the UK Ovarian Cancer Population Study (UKOPS), we measured STn-CA125, ST-CA125 and STn-CA15-3.

pelvic mass


Input: Response rates (RRs) to and progression-free survival (PFS) after taxane chemotherapy of 35 BRCA1-associated and 13 BRCA2-associated metastatic breast cancer patients were compared with those outcomes in 95 matched (1: 2) sporadic patients.

sporadic


Input: Our data demonstrated: (1) that positive MIB 1 immunostaining increased progressively from squamous metaplasia to CIN and microinvasive carcinoma, suggesting that neoplastic transformation is associated with a dysfunctional proliferation of cervical epithelium; (2) that there was a significant correlation between the MIB 1 index and CIN degree but not with respect to HPV DNA presence, and (3) that MIB 1 immunostaining might be useful for a clinical evaluation of mild and moderate dysplastic lesions.

MIB

neoplastic transformation


Input: Modulation of gamma oscillations in the pedunculopontine nucleus by neuronal calcium sensor protein-1: relevance to schizophrenia and bipolar disorder.

calcium sensor protein

schizophrenia

calcium sensor protein

schizophrenia


Input: These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

NF2 gene

sporadic


Input: These missense mutations give rise to haploinsufficiency by another route, because the missense mutations presented here resulted in an aniridia phenotype indistinguishable from that caused by a heterozygous deletion of the entire PAX6 gene.

aniridia

aniridia


Input: Furthermore, we demonstrate that IRF-1-induced apoptosis requires fas-associated death domain (FADD) since dominant-negative FADD expressing cells resist IRF-1-induced apoptosis and activated downstream products.

FADD

fas


Input: This study, together with previous studies implicating the same locus in atopic sensitisation, suggests that primary RSV bronchiolitis and atopy share a genetic contribution at the IL13-IL4 locus.

atopy


Input: Mutations in PYCR1 cause cutis laxa with progeroid features.

cutis laxa with progeroid features

cutis laxa with progeroid features


Input: This short report describes the detection of mutations of the TP53 tumour suppressor gene in sporadic ovarian carcinomas using archival paraffin-embedded tissues and automated fluorescent DNA sequencing.

sporadic


Input: All PCCs/PGLs are considered to pose some risk of metastasis, and long-term follow-up is advised.

PGLs

metastasis


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: Therefore, we examined the effects of a MIF tautomerase inhibitor (ISO-1; also blocks biological activity) on cyclophosphamide (CYP)-induced cystitis in mice.

MIF

cystitis


Input: Compared with controls we observed significant increases in the numbers of cells expressing RANTES and MCP-3, as well as IL-5, GM-CSF, and IL-3 (all P values < 0. 001) in atopic and nonatopic asthmatics.

RANTES

atopic


Input: The objective of this study was to determine the effects of pentraxin3 (PTX3) on human oxidized low density lipoprotein (oxLDL) uptake and cholesterol efflux from human macrophage foam cells, which may play a critical role in atherogenesis.

atherogenesis


Input: We conducted a pooled analysis of 5, 026 NHL cases and 4, 630 controls from seven case-control studies in the international lymphoma epidemiology consortium to examine associations between smoking, variation in the N-acetyltransferase genes NAT1 and NAT2, and risk of NHL subtypes.

smoking


Input: In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of PTCL.

FYN

PTCL

FYN

PTCL


Input: We confirm that deficit in protein 4. 1R is recurrent in myeloid malignancies and should be particularly investigated when deletion del (20 q) is present, since we found this chromosomal abnormality in four out of six patients.

4. 1R

malignancies


Input: We have demonstrated that GSTA1 forms complexes with JNK and modifies JNK activation during cellular stress, but the factors that influence complex association and dissociation are unknown.

dissociation


Input: Calmodulin immunorecognition by monoclonal antibody CAM1 was found to be lost in cortical tissue sample from brains affected by Alzheimer' s disease.

Alzheimer' s disease

Alzheimer' s disease


Input: Pathway-selective ligands for the estrogen receptor (ER) inhibit NF-kappaB-mediated inflammatory gene expression causing a reduction of cytokines, chemokines, adhesion molecules, and inflammatory enzymes.

NF-kappaB

adhesion


Input: The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.

bipolar disorder

bipolar disorder


Input: This study confirms that beta-catenin deregulation is involved in sporadic hepatoblastoma and also suggests that mismatch repair defects and p53 mutations contribute to this rare liver cancer.

sporadic


Input: In this retrospective case-control study, we evaluated possible associations between single-nucleotide polymorphisms (SNPs) in the candidate DNA damage response genes (ATM, XRCC1, TP53, XRCC3, MTF1) and risk of radiation-induced and sporadic PTC.

sporadic


Input: Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.

achondroplasia


Input: The contribution of BRCA2 to the development of the sporadic form of breast cancer remains undefined.

sporadic


Input: We screened STXBP1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (MRI) without any obvious structural abnormality.

MRI

epilepsy


Input: Expression of oligodendroglial and astrocytic lineage markers in diffuse gliomas: use of YKL-40, ApoE, ASCL1, and NKX2-2.

gliomas


Input: In this study, we analyzed 1) the expression of MyD88-dependent TLRs on circulating and airway neutrophils in P. aeruginosa-infected CF patients, P. aeruginosa-infected non-CF bronchiectasis patients, and noninfected healthy control subjects and 2) studied the regulation of TLR expression and functionality on neutrophils in vitro.

bronchiectasis


Input: Conventional cytogenetics (karyotyping) will detect the majority of abnormalities involving PDGFRB and FGFR1, but florescence in situ hybridization (FISH)/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic 4q12 interstitial deletion is cryptic.

PDGFRA

abnormalities


Input: In conclusion, using the concerted effort of several European prospective CVD cohorts, we are able to show that one IL-18 tag SNP interacts with smoking to modulate the risk of developing CVD.

smoking


Input: Neuronal tau inclusions were DJ-1 immunopositive in Pick' s disease (PiD), corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and Alzheimer' s disease.

corticobasal degeneration


Input: The present study analyzed by conventional PCR the 14-bp insertion/deletion polymorphism of exon 8 HLA-G gene in 150 unrelated healthy subjects, 82 HTLV-1 infected patients with symptoms (33 ATL and 49 HAM), and 56 asymptomatic HTLV-1 infected patients (HAC).

HLA-G gene

asymptomatic


Input: Regarding new therapies to control fungal infections, the aim of this study was to investigate whether pulmonary administration of leukotriene B (4) (LTB (4))-loaded microspheres (MS) could confer protection to 5-lipoxygenase knockout (5-LO (-/-)) mice infected by H. capsulatum.

fungal infections


Input: Case-control study comparing serum lipids between H. pylori positive and negative patients and controlling for IL-6-174 polymorphism, age, sex and smoking.

smoking


Input: We analyzed the expression of IL-20 and its receptor (R) in the kidneys of rats with HgCl (2)-induced acute renal failure.

acute renal failure

acute renal failure


Input: Novel ophthalmic features for the CEP290 phenotype were Coats-like exudative vasculopathy in two patients, a small chorioretinal coloboma in one patient, and well defined, small, atrophic spots at the level of the retinal pigment epithelium causing a dot-like appearance in five patients.

atrophic


Input: These findings suggest that the RAR alpha gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.

alpha gene

leukemogenesis


Input: These studies present definitive evidence that changes in mitochondrial function and ROS production are key components associated with selective killing of prostate cancer cells by mda-7/IL-24.

prostate cancer

prostate cancer


Input: A strong correlation between Muc2 mRNA expression and decreased worm number or biomass in a 50-worm infection was observed.

worm


Input: In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.

mild


Input: In contrast, impaired TAP1, LMP2 and tapasin expression was found in 42%, 42% and 63% of primary adenocarcinomas of stage III disease and in 63%, 47% and 79% of the matched lymph node metastases, respectively.

lymph node metastases


Input: In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS.

ALS

ALS


Input: Moreover, CD8 (+) T cells, which are recruited to tumors upon stimulation by CXCL9 and CXCL10, were largely excluded from viable hypoxic areas in vivo.

hypoxic


Input: Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.

LDL)-receptor

FH

LDL)-receptor

FH


Input: Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysostosis


Input: We have tested the hypothesis that elevated numbers of cells expressing mRNA for RANTES and MCP-3, as well as IL-5, GM-CSF, and IL-3 are present in bronchial biopsies from atopic and nonatopic asthmatics compared with atopic and nonatopic nonasthmatic controls.

RANTES

atopic


Input: De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

autistic behaviors


Input: Collectively, the data are consistent with a negative regulatory role for endogenous IFN-gamma synthesis in controlling the intensity of systemic IL-13 responses evoked in both atopic and nonatopic populations following exposure to common Ags.

atopic


Input: Both Msi1 and nestin were induced in the reactive astrocytes after ischemia, especially in the CA1 region, until 35 days after ischemia.

ischemia


Input: These findings confirm known regions of CNAs in prostate cancer and localize additional regions and possible genes (e. g., BNIP3L, WWOX, and GATM) that may help to clarify the genetic basis of prostate cancer aggressiveness.

WWOX

prostate cancer aggressiveness


Input: We also found that CYP1B1 rs1056827 polymorphism had synergistic effects with smoking or alcohol consumption regarding the risk of laryngeal cancer.

smoking


Input: EBER was detected in tumor cells in 79 cases (58%); 26/66 PTL, unspecified (39%), 3/4 AILD (75%), 47/51 angiocentric lymphomas (AL) (92%), and 3/13 anaplastic large cell lymphoma (ALCL) (23%) by Revised European-American Lymphoma (REAL) classification.

PTL

lymphomas


Input: The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.

Fuhrmann syndrome

Fuhrmann syndrome


Input: Two SNPs in the APC (rs2431238) and NIN (rs10145182) loci, of 34 examined, were significantly associated with pancreatic cancer risk (P = 0. 035 and P = 0. 038, respectively).

NIN

pancreatic cancer


Input: TIS21 negatively regulated hepatocarcinogenesis in part by disruption of the FoxM1-cyclin B1 regulatory loop, thereby inhibiting proliferation of transformed cells developed in mouse and human livers.

cyclin B1

hepatocarcinogenesis


Input: Increased hemorrhage and brain edema that correlated with higher mortality and neurologic deficits were found in MMP-9-knockout mice.

brain edema

brain edema


Input: We immunostained 219 thyroid lesions selected from our surgical pathology archives including 14 hyperplastic colloid nodules (CN), 19 Hashimoto' s thyroiditis (HT), two Graves disease (GD), ten Hürthle cell adenoma (HCA), 20 follicular adenoma (FA), 37 conventional papillary thyroid carcinoma (PTC), 60 follicular variant of papillary carcinoma (FVPC), 19 Hürthle cell carcinoma (HCC), 32 follicular carcinoma (FC), and six poorly differentiated/anaplastic carcinoma.

HCC

papillary carcinoma


Input: Finally, a progressive increase of the GRS is evident in advanced periodontitis in comparison with early forms.

GRS

periodontitis


Input: Furthermore, we showed that SIRT3 positively regulated both mitochondrial oxidative capacity and antioxidant gene expression, thereby reducing ROS accumulation in mProx cells, which suggests a mechanism that underlies SIRT3-mediated reversal of palmitate-induced inflammation.

inflammation


Input: Therefore the GHS-R1A may constitute a novel candidate for development of new treatment strategies for alcohol dependence.

GHS

alcohol dependence

GHS

alcohol dependence


Input: Sialomucin complex (SMC), a rat homologue of the human mucin MUC4, is a large membrane-bound mucin complex, originally isolated from highly metastatic ascites 13762 mammary adenocarcinoma cells.

ascites


Input: Up-regulated P-gp expression and increased CYP isoenzymatic activities of small intestines in hepatic fibrosis rats may contribute to the decreased bioavailability and increased elimination of ofloxacin after oral administration.

P-gp

hepatic fibrosis


Input: Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene.

IGFALS

ALS deficiency

IGFALS

ALS deficiency


Input: In this study, we measured the mRNA expression levels of three methylation-regulating genes (DNMT1, DNMT3b, and MBD2) in 148 tumour samples from patients with non-small cell lung cancer (NSCLC) using quantitative real-time polymerase chain reaction and then determined their prognostic values.

non-small cell lung cancer


Input: CD166 is a glycoprotein of immunoglobulin superfamily of adhesion molecules which is overexpressed in many tumors.

adhesion


Input: The mean bladder weight in BOO rats was 5. 8 times of the normal controls, while in animals grafted with B10. HGF cells, the weight was down to four times of the control [90. 2 ± 1. 6 (control), 89. 9 ± 2. 8 (sham), 527. 9 ± 150. 9 (BOO), 447. 7 ± 41. 0 (BOO + B10), and 362. 7 ± 113. 2 (BOO + B10. HGF)].

BOO

weight


Input: Several circadian genes have been found to be associated with bipolar disorders: at least three studies have reported positive associations for each of CLOCK, NPAS2, ARNTL1, NR1D1, PER3, RORB and CSNK1epsilon.

bipolar disorders

bipolar disorders


Input: In the largest study to date, we examined the association of plasma CRP with coronary artery calcification (CAC) in 914 asymptomatic subjects in the Study of Inherited Risk of Coronary Atherosclerosis (SIRCA).

CRP

coronary artery calcification


Input: We found that C3G was overexpressed in accelerated anti-GBM antibody-induced glomerulonephritis and suggest that this modulates glomerular epithelial cell morphology and behavior.

glomerulonephritis


Input: Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

developmental delay

developmental delay


Input: While there are some reports of NRP-1 expression in ovarian neoplasm, those results differ in pattern of its expression and its role in ovarian cancer is still unclear.

NRP

ovarian neoplasm


Input: This work demonstrates that both hypoxia and reoxygenation are necessary for LOX catalytic activity which facilitates breast cancer cell migration through a hydrogen peroxide-mediated mechanism; thereby illuminating a potentially novel mechanism by which poorly invasive cancer cells can obtain metastatic competency.

LOX

hypoxia


Input: Building on research demonstrating associations between serotonin abnormalities and dysfunctional attitudes, we examined the covariation between dysfunctional attitudes and the serotonin transporter gene-linked polymorphic region (5-HTTLPR).

serotonin transporter

abnormalities


Input: As a result, we found that DMH-treated animals were having over-expression of various pro-inflammatory cytokines (IL-1β, IL-2, and IFNγ), aberrant nuclear localization of activated cell survival transcription factors (NF-κB and Stat3) along with the increased incidence of activated angiogenic factors (MMP-2 and MMP-9) suggesting a marked role of inflammation in the tumor progression.

inflammation


Input: RAN, ZHX2 and RCBTB2 (CHC1L) expression was evaluated by quantitative real time reverse transcription polymerase chain reaction in plasma cells from 85 monoclonal gammopathies: 58 symptomatic multiple myeloma (MM) (52 untreated, six relapsed), eight smouldering MM, five monoclonal gammopathy of undetermined significance, four plasma cell leukaemias and 10 myeloid cell lines.

monoclonal gammopathies


Input: These results suggest that H. pylori and IFN-gamma interfere with the differentiation into oxyntic and pyloric glands by the downregulation of Sox2 on IL-4/STAT6 signaling, which may contribute to the transdifferentiation into intestinal metaplasia.

IFN

intestinal metaplasia


Input: Recently, gene duplication and protein overexpression of lamin B1 (LB1) have been reported in pedigrees with autosomal dominant leukodystrophy (ADLD).

leukodystrophy


Input: Given the importance of RhoA and RhoGEF signaling in tumorigenesis, BNIPXL could suppress cellular transformation by preventing sustained Rho activation in concert with restricting RhoA and Lbc binding via its BCH domain.

BNIPXL

tumorigenesis


Input: Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.

schwannomin

adhesion


Input: The genetic polymorphisms of HLA-DQA1 might be one of the factors influencing the individual susceptibility to TCE-induced severe generalized dermatitis.

dermatitis

dermatitis


Input: The deficits detected in language, verbal processing speed, and verbal executive skills were found to be isolated to the VIQ < PIQ subgroup, while the abnormalities in motor dexterity and nonverbal executive skills were confined to the PIQ < VIQ subgroup.

PIQ

abnormalities


Input: We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).

depression

depression


Input: Using break-apart FISH and RT-PCR combined with DNA sequencing, we detected FUS/DDIT3 fusions in 30 sarcomas, while an EWSR1/DDIT3 translocation was identified in one tumor.

translocation


Input: Glomerular filtration rate (GFR), end-stage renal disease and albuminuria are highly heritable.

GFR

albuminuria


Input: Additionally, we applied the tetramer technology, showing that a B27/chlamydial peptide containing one of the chlamydial peptides stained CD8 (+) T cells in patients with Chlamydia-induced arthritis.

arthritis


Input: Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.

IL-1 beta

hyperalgesia

IL-1 beta

hyperalgesia


Input: Significant interactions were found for alcohol intake with rs3762999 (p = 0. 0257) and rs999556 (p = 0. 0071) at TNIP/ANXA6; and for cigarette smoking with rs7007032 (p = 0. 0023) and rs10088247 (p = 0. 0023) at CSMD1.

alcohol intake


Input: The LEP-2548G/A variants seem to moderate the weight-altering effect of risperidone but not psychostimulants.

LEP

weight


Input: Dipeptidyl peptidase-4 inhibition by gemigliptin prevents abnormal vascular remodeling via NF-E2-related factor 2 activation.

NF-E2-related factor 2

vascular remodeling


Input: Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: TSA may be useful as an inhibitor of nasal polyp growth, and thus has potential to be used as a novel treatment option for nasal polyposis.

TSA

nasal polyposis


Input: Using genotypic data from a GWAS of the Study of Addiction: Genetics and Environment (SAGE) dataset, we tested for association of CHRNB3-A6 SNPs with DSM-5 cocaine use disorder.

cocaine use

cocaine use


Input: Quantitative reverse transcription-PCR for NKX3. 1 mRNA using microdissected atrophy revealed a concordance with protein in five of seven cases.

NKX3. 1

atrophy


Input: The inter-and intrafamilial variability in families with an L1 mutation is very wide, and patients with HSAS, MASA, SP1 and ACC can be present within the same family.

MASA

HSAS

MASA

HSAS


Input: Finally, in the medial parvicellular division of the paraventricular nucleus, the number of identified corticotropin-releasing hormone neurons also containing vasopressin mRNA is very low in control animals and is not increased by polyethylene glycol injections, suggesting that, within this period, activation of the vasopressin gene may not be a critical event in the neuroendocrine response of corticotropin-releasing hormone neurosecretory neurons to extracellular dehydration.

corticotropin-releasing hormone

dehydration


Input: GTPCH has been associated with two clinically distinct human diseases: the recessive hyperphenylalaninemia (HPA) and the dominant dopa-responsive dystonia (DRD).

dopa-responsive dystonia

DRD

dopa-responsive dystonia

DRD


Input: The systolic blood pressure night to day ratio and also ACR were higher in the fathers of cases when compared with the fathers of controls [systolic 0. 88 (0. 08), n = 14 vs. 0. 85 (0. 12), n = 53, P = 0. 041]; [ACR median (IQ range) 0. 6 mg/mmol (0. 2-16. 9) vs. 0. 47 mg/mmol (0. 3-3. 7), P = 0. 049].

ACR

systolic blood pressure


Input: Expression of NHE-1 and NHE-3 isoforms and sodium pump activity (PNP), and their modulation by blood pressure (BP), PGE (2) and TXB (2) were examined in the kidneys of 2K-1C rats treated with cilazapril for short-(4 and 24 h) and long-term (7 days) periods.

PNP

blood pressure


Input: These results suggested never-smoking females with NAT2 fast acetylator were more prone to lung cancer and reflected the possibility that exposure to heterocyclic amines may contribute to the female lung cancer development in Taiwan.

smoking


Input: This is a prospective longitudinal cohort study performed between October 2009 and August 2011 involving 9 infertile couples and 21 sets of complete comprehensive chromosomal screening data, including PB1, PB2, corresponding blastomeres and trophectoderm (TE) samples.

infertile


Input: Coagulation factor XI (FXI) plays an important part in both venous and arterial thrombosis, rendering FXIa a potential target for the development of antithrombotic therapy.

FXI

arterial thrombosis


Input: Taken together, our results strongly suggest that the HCV core-induced epigenetic silencing of SFRP1 may lead to the activation of the Wnt signaling pathway and thus contribute to HCC aggressiveness through induction of EMT.

aggressiveness


Input: A human peroxisome assembly factor-1 (PAF-1) complementary DNA has been cloned that restores the morphological and biochemical abnormalities (including defective peroxisome assembly) in fibroblasts from a patient with group F Zellweger syndrome.

abnormalities


Input: Concomitantly, epithelial cell proliferation in the polyps was significantly attenuated, suggesting that Sphk1 regulates adenoma progression.

polyps


Input: The early acquisition of TP53 mutations in the founding HSPC clone probably contributes to the frequent cytogenetic abnormalities and poor responses to chemotherapy that are typical of patients with t-AML/t-MDS.

HSPC

cytogenetic abnormalities


Input: We show that activation of CD47 increases proliferation of human U87 and U373 astrocytoma cells but not normal astrocytes.

astrocytoma


Input: However, hsp90 beta was constitutively overexpressed almost equally in all groups of pancreatic tissue including pancreatic carcinoma, chronic pancreatitis and normal pancreas tissue.

chronic pancreatitis


Input: We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding.

stiff skin syndrome

stiff skin syndrome


Input: In conclusion, the suppression of PPP2R5C by RNA interference could effectively inhibit the proliferation of leukemic T cells, the PPP2R5C-siRNA treatment altered gene expression profiles, and the differential expression of the glycogen synthase kinase 3 beta (GSK-3β), ataxia telangiectasia mutated (ATM), and Mdm2 p53 binding protein homolog (MDM2) genes may play an important role in the effects of PPP2R5C knockdown in Jurkat T cells.

telangiectasia


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

infections


Input: The APAF-1 methylation levels in RCC were significantly higher in tumours larger than 4 cm and in high-grade tumours.

RCC

RCC


Input: Three patients (3%) had congestive heart failure; three patients dropped out because of significant asymptomatic LVEF decline during PTL followed by TL.

PTL

congestive heart failure


Input: Our results revealed this new FISH assay accurately detects these abnormalities and will be a useful clinical test for patients with myeloid neoplasms and eosinophilia.

FISH

eosinophilia


Input: FGF2 expression in the HUVE-12 cells cocultured with TEV-1 cells was significantly increased under hypoxic conditions.

hypoxic


Input: Here, we present the evidence that the hypoxic induction of angiogenesis by human breast cancer cells (MDA-231) can be ascribed at least in part to CTGF.

CTGF

hypoxic


Input: Results of the present study indicate that 1) PGE (2) promotes survival of human endometriotic cells through EP2 and EP4 receptors by activating ERK1/2, AKT, nuclear factor-kappaB, and beta-catenin signaling pathways; 2) selective inhibition of EP2 and EP4 suppresses these cell survival pathways and augments interactions between proapoptotic proteins (Bax and Bad) and antiapoptotic proteins (Bcl-2/Bcl-XL), facilitates the release of cytochrome c, and thus activates caspase-3/poly (ADP-ribose) polymerase-mediated intrinsic apoptotic pathways; and 3) these PGE (2) signaling components are more abundantly expressed in ectopic endometriosis tissues compared with eutopic endometrial tissues during the menstrual cycle in women.

endometriosis

endometriosis


Input: Sixteen of the 143 (11. 1%) KT recipients had sustained severe anemia (SSA) with hemoglobin lower than 7. 0 g/dl, after 4 weeks post-transplant.

SSA

severe anemia


Input: A promoter SNP (-131C--> G) in CHI3L1, the chitinase 3-like 1 gene encoding YKL-40, was associated with elevated serum YKL-40 levels (P = 1. 1 x 10 (-13)), asthma (P = 0. 047), bronchial hyperresponsiveness (P = 0. 002), and measures of pulmonary function (P = 0. 046 to 0. 002) in the Hutterites.

chitinase 3-like 1 gene

pulmonary function


Input: The probands were either heterozygous or compound heterozygous for SGLT2 mutations, and had glucosuria quantified at 6-27 g/day.

glucosuria

glucosuria


Input: Further, the strength of these associations increased after removing the SQ component from HSI and FTND scores in both the EA and AA samples, suggesting that ARRB1 and ARRB2 play an important role in biological processes involved in the regulation of smoking urgency (that is time to smoke first cigarette).

smoking


Input: Potential role of microsomal prostaglandin E synthase-1 in tumorigenesis.

microsomal prostaglandin E synthase-1

tumorigenesis


Input: To evaluate the expression of insulin-like growth factor II mRNA-binding protein (IMP3), CK8/18, and CK14 in BRCA mutated and sporadic invasive breast carcinoma.

sporadic


Input: DEC1 (BHLHE40/Stra13/Sharp2) and DEC2 (BHLHE41/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are involved in the regulation of apoptosis, cell proliferation, circadian rhythms and the response to hypoxia.

circadian rhythms


Input: STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.

BD

BD


Input: The results lead to the suggestion that treatment with tricyclic antidepressants leads to changes in the EAAC1 mRNA expression in rat brain suggesting involvement of the glutamate system in the tricyclic treatment of depression.

depression

depression


Input: Analysis of genes differentially expressed in MUC1-transformed cells has identified a network linking MUC1 and STAT1 that is associated with cellular growth and inflammation.

inflammation


Input: In addition, mice with a Scn8a loss-of-function mutation (Scn8a (med-Tg/+)) show altered anxiety and depression-like phenotypes.

anxiety


Input: DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin (-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism.

CRK

autism


Input: To assess the incidence of different FSH receptor genotypes in normogonadotropic anovulatory infertile women (World Health Organization class II) and normo-ovulatory controls and to correlate these genotypes with baseline characteristics and ovarian responsiveness during ovulation induction.

FSH receptor

infertile


Input: Notably, miR-532-5p regulated the nuclear expression of & #946;-catenin and activation of Wnt/& #946;-catenin signaling in bladder cancer cells.

bladder cancer

bladder cancer


Input: Lysyl oxidase may play a critical role in hypoxia-induced NSCLC cells invasion and migration.

Lysyl oxidase

hypoxia


Input: Herein, we evaluated the antitumor effects of intratumoral injection of RGD fiber-mutant adenoviral vectors (AdRGDs) encoding the chemokines CCL17, CCL19, CCL20, CCL21, CCL22, CCL27, XCL1 or CX3CL1 in a murine model of preexisting CT26 colon carcinoma.

colon carcinoma


Input: Considering that gene polymorphisms have been implicated in the development of gliomas, we performed an association study between SPP1 functional promoter region polymorphisms and glioma risk in a Chinese population.

glioma


Input: Gene aberrations include translocation t (15, 19) (q13, p13. 1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGFβ1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2.

NFKBIB

translocation


Input: The recurrent t (14; 19) (q32; q13) translocation associated with chronic B-cell lymphoproliferative disorders, such as atypical chronic lymphocytic leukemia, results in the juxtaposition of the IGH @and BCL3 genes and subsequent overexpression of BCL3.

translocation


Input: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy.

mild


Input: The aim of this study was to evaluate the role of recombinant alpha-1-antichymotrypsin (rACT P3-P3'), an endogenous serine protease inhibitor, in ameliorating lung injury associated with pancreatitis.

pancreatitis


Input: Here we demonstrate that chronic mild stress-induced anhedonic behavior is associated with disturbed diurnal oscillation of the expression of Clock, Cry2, Per1, Per3, Id2, Rev-erbα, Ror-β and Ror-γ in the mouse basolateral amygdala.

mild


Input: In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 encoding the 3'-5' repair exonuclease 1 in affected individuals of the family with chilblain lupus.

chilblain lupus

chilblain lupus


Input: Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.

EDAR

HED

EDAR

HED


Input: Interestingly, the expression of presenilin-1 in human U87 MG astrocytoma and human SK-N-SH neuroblastoma cells is only increased when cells are treated with glial cell line-derived neurotrophic factor or transforming growth factor-beta3.

astrocytoma


Input: In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy.

Navajo neurohepatopathy

Navajo neurohepatopathy


Input: Moreover, we have concluded that the tested blood group systems (as opposed to their role in graft vs host disease after transplantations) have no effect on fetal MCH.

MCH

graft vs host disease


Input: RT-PCR analysis showed that all of the non-neoplastic pituitaries and all GH-producing adenomas, one prolactinoma and one third of the non-functioning adenomas expressed GHRH-R mRNA.

GHRH

non-neoplastic


Input: Compared with the control group, postconditioning with inhalation of isoflurane or infusion of emulsified isoflurane remarkably enhanced the expression of phosphorylation of JAK2 Tyr (1007)/Tyr (1008) and STAT3 Tyr (705), but not phosphorylation of STAT1 Tyr (701).

inhalation


Input: Amelioration by chicory seed extract of diabetes-and oleic acid-induced non-alcoholic fatty liver disease (NAFLD)/non-alcoholic steatohepatitis (NASH) via modulation of PPAR & #945; and SREBP-1.

non-alcoholic steatohepatitis

non-alcoholic steatohepatitis


Input: We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).

AMP

depression

AMP

depression


Input: Since markers of inflammation are supposed to predict type 2 diabetes, interleukin-6 (IL-6) and C-reactive protein (CRP) in combination with parameters of obesity, insulin resistance and hyperandrogenism were determined in 57 PCOS women and in 20 age-matched healthy controls.

CRP

insulin resistance


Input: Our findings suggest that carriers of the LPL × 447 allele benefit from moderate alcohol consumption and a diet high in unsaturated fat to minimize reduction of blood HDL-C concentrations and that obese persons who do not carry the LPL × 447 allele need to control body weight to prevent hypertriglyceridemia.

LPL

body weight


Input: A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria.

HPD

hawkinsinuria

HPD

hawkinsinuria


Input: These results reveal a regulatory role of p16 gene methylation on osteoblasts activation during the development of skeletal fluorosis.

fluorosis

fluorosis


Input: TRD and TRAIL are effective to induce apoptosis and decrease proliferation in human fibrosarcoma.

TRD

fibrosarcoma


Input: A novel presenilin 1 mutation associated with Pick' s disease but not beta-amyloid plaques.

presenilin 1

Pick' s disease

presenilin 1

Pick' s disease


Input: Higher hemoglobin levels were associated with higher IQ in the children who carried the wild-type allele DRD2, but in children homozygous for the variant allele, an increase of 1 g/dL hemoglobin was associated with a decrease in 1. 82 points of IQ (95% CI,-5. 28 to 1. 64; interaction term p-value = 0. 02).

hemoglobin


Input: Amelioration of arthritis through mobilization of peptide-specific CD8 + regulatory T cells.

arthritis


Input: The observations concerning both SP and NK-1 R were most evident for tenocytes in tendinosis tendons.

tendinosis


Input: We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls.

DAZ

infertile


Input: Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC.

PARN

DC

PARN

DC


Input: Serum concentrations of IL-2, IL-4, IL-10, and IL-12 were measured in patients with DCM (WHO criteria), relatives with asymptomatic left ventricular enlargement (LVE), patients with ischaemic heart failure (IHD), and healthy controls.

asymptomatic


Input: Recent research into this disease has also correlated Annexin-1 (ANXA1), a glucocorticoid-inducible protein, with the development of breast tumorigenesis.

tumorigenesis


Input: We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and L1007finsC) SNPs in 87 asymptomatic serologically H. pylori-positive individuals (Group I), in 63 patients with antrum-predominant gastritis (Group II) and in 60 patients with corpus-predominant gastritis or pangastritis (Group III).

asymptomatic


Input: Although these results suggested that TNFR2 might have a protective role in bone resorption, we could not exclude the possibility that TNFR2 has no role in bone resorption.

bone resorption


Input: Therefore, this study examined the association between the bone mass and RANKL, RANK, and OPG gene polymorphisms in 198 girls diagnosed with AIS.

RANKL

bone mass


Input: These results suggest that ALAP, PLOD1, ICAM1, LIPC, and CNR2 are susceptibility loci for reduced bone mass in Japanese women and that GJA4 constitutes such a locus in Japanese men.

bone mass


Input: To explore the renoprotective effects of ACE2 overexpression, ACE inhibition (ACEI) or both on diabetic nephropathy and the potential mechanisms involved, 50 Wistar rats were randomly divided into a normal group that received an injection of sodium citrate buffer and a diabetic model group that received an injection of 60 mg/kg streptozotocin.

diabetic nephropathy

diabetic nephropathy


Input: This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype.

Rett syndrome

Rett syndrome


Input: We used a consecutive series of 191 sporadic colorectal cancers to find out if there were any differences between the two groups of tumors regarding the prevalence of mutations in the APC, KRAS, TP53, and TGFbetaR2 genes.

sporadic


Input: We screened 81 ovarian tumours (30 BRCA1 associated, 18 BRCA2 associated, and 33 sporadic) for somatic TP53 mutations using both DNA analysis and immunostaining.

sporadic


Input: To investigate the presence and possible function of ether-à-go-go-related gene (erg) K (+) channels in human lactotroph cells (HERG channels), primary cultures were prepared from human prolactinoma tissue.

HERG

prolactinoma


Input: In a multivariate analysis adjusting for line of therapy, mono-versus platinum and nonplatinum combination therapy, age, sex, histology, and smoking status, the only variable associated with prolonged PFS on pemetrexed was ALK + (hazard ratio = 0. 36 [95% confidence interval: 0. 17-0. 73], p = 0. 0051).

ALK

mono


Input: A robust and reproducible transcriptional response involving coordinate induction of multiple immediate-early (fos, jun, egr1, egr3, atf3, arc, nr4a1) and stress response genes (Ndrg4, Mt1B, Mt1E, Mt1F, Mt1H) was selectively induced in HDACi sensitive cells.

arc


Input: The PTEN (phosphatase and tensin homologue deleted in chromosome ten) gene has been identified as a tumor suppressor gene responsible for cancers of the endometrium, ovary, prostate, and glioblastomas.

tensin

cancers


Input: Ubiquitous transgenic expression of the IL-23 subunit p19 induces multiorgan inflammation, runting, infertility, and premature death.

inflammation


Input: Here we report the identification of heterozygous missense mutations in the CTNNA1 gene (encoding & #945;-catenin 1) in three families with butterfly-shaped pigment dystrophy.

butterfly-shaped pigment dystrophy

butterfly-shaped pigment dystrophy


Input: Consistently, downregulation of Ctr1 suppresses cisplatin toxicity, including cell death by both apoptosis and necrosis.

necrosis

necrosis


Input: We conclude that SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria.

cystinuria

cystinuria


Input: Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.

tumorigenesis


Input: Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3 & #183; 29, 1 & #183; 47-7 & #183; 37, 5 & #183; 40 & #215; 10 (-3)) and rs3887412 in ABCC1 (3 & #183; 36, 1 & #183; 47-7 & #183; 67, p = 5 & #183; 70 & #215; 10 (-3)).

DPYD

peripheral neuropathy

DPYD

peripheral neuropathy


Input: Some marginal associations could be observed for DDC with suicide, violence, anger, and aggression.

DDC

suicide


Input: The nitric oxide synthase 1 (NOS1) gene is a candidate for this role because exhaled nitric oxide (NO) is reduced in patients with CF and NOS1 activity contributes to transepithelial ionic transport, immune defence, and non-specific inflammation of the airways.

inflammation


Input: Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis.

psychosis

psychosis


Input: Our findings demonstrate that caspases participate in important pathogenic mechanisms in Gly-ARF such as inflammation, apoptosis, vasoconstriction, and tubular necrosis.

ARF

inflammation


Input: The correlations between the levels of serum lncRNA RP11-445H22. 4 in breast cancer patients and the clinicopathological factors of these patients were further analyzed.

RP11-445H22. 4

breast cancer


Input: Results from the present study show that PRR is expressed in pituitary adenoma cells and regulates growth hormone (GH) release via V-ATPase-induced cellular acidification.

PRR

pituitary adenoma


Input: These effects of ketamine rapidly reverse the atrophy of PFC neurons caused by chronic stress and correspond to rapid behavioural actions of ketamine in models of depression.

PFC

atrophy


Input: Recombinant proteins from two genes identified in this manner, Sui1 and RalA were expressed, purified and used as antigens in immunoassays to detect the presence of antibodies in sera from 77 patients with HCC, 30 with chronic hepatitis (CH), 30 with liver cirrhosis (LC) and 82 normal human sera (NHS).

HCC

chronic hepatitis


Input: For this reason, NPY Y5 receptor antagonists may be useful in medical management of alcohol abuse and alcoholism in the human population.

NPY Y5 receptor

alcohol abuse

NPY Y5 receptor

alcohol abuse


Input: Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

odonto-onycho-dermal dysplasia

odonto-onycho-dermal dysplasia


Input: Although the combination of heregulin and troglitazone (HRG/TGZ) induced both apoptosis and necrosis, the main mode of cell death was caspase-independent and occurred via necrosis.

HRG

necrosis


Input: This may reflect differential roles of miR-21, miR-26a, miR-29a, and miR-142-3p in T-cell immunity against M. tuberculosis infection and disease.

tuberculosis infection


Input: After adjusting for age, smoking and body mass index, there was no significant difference in TRF lengths between the treated breast cancer patients and unaffected controls (P = 0. 71).

TRF

body mass index


Input: Fractalkine is a unique Th1 CX3C chemokine known to induce adhesion and migration of leukocytes mediated by both, a membrane-bound and soluble form, respectively.

adhesion


Input: In the 17 patients with PDRGs, the cirrhosis was attributed preoperatively to A1AT deficiency (3 patients), ethanol abuse, viral hepatitis, or both (10 patients), cryptogenic cirrhosis (3 patients), and autoimmune hepatitis (1 patient).

ethanol abuse


Input: In the present study, we investigated the effects of the p21-activated kinase 4 (Pak4) gene on Hep-2 laryngeal carcinoma cells in vivo and in vitro.

laryngeal carcinoma


Input: Glycemias and other parameters (HbA1c, IGF1, height, weight, quality of life (QoL), and satisfaction) were monitored at each monthly visit.

weight


Input: Galectins are a group of β-galactoside-binding mammalian lectins that play important roles in the regulation of the immune response by promoting T cell tolerance, blunting Th1 and Th17 responses and suppressing autoimmune inflammation.

inflammation


Input: Inoculation of CTCL cell lines into nonobese diabetic/Shi-scid interleukin 2γ (IL-2γ) null mice led to CTCL cell migration to multiple organs; however, prior transfection of the cells with miR-150 substantially reduced the invasion/metastasis by directly downregulating CCR6, a specific receptor for the chemokine CCL20.

scid


Input: The possible mechanisms involved, besides the effect on blood pressure, might be related to pleiotropic functions of the HMGCR, and remain to be explored.

HMGCR

blood pressure


Input: Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists.

weight increase


Input: FoxO3a was detected primarily in the sublining T lymphocytes of synovium from patients with RA compared with the lining layer tissue from patients with RA and OA, underlying a role for FoxO3a proteins in inflammation in RA.

inflammation


Input: One such paradigm exists in the developing nervous system, where neuronal migration is mediated by a balance between chemoattractive and chemorepulsive signals.

neuronal migration

nervous system


Input: To investigate the role of the tumour suppressor gene PTEN in the tumorigenesis and growth of sporadic vestibular schwannomas, and to characterize the cellular distribution of the PTEN protein in relation to the MIB-1 proliferation index in these tumour.

sporadic


Input: As oxygen concentrations in the UGT are low under physiological conditions (O (2) < 5%) and further decrease during an inflammatory process, we wondered whether antibacterial properties of IFN-γ are maintained under hypoxic conditions.

UGT

hypoxic


Input: Moreover, the addition of IL-10 to PBMC cultures of 3 schistosomiasis patients and 2 cured subjects who had high lymphoproliferative responses to SWAP resulted in the suppression of these responses by 90%, and completely suppressed IFN-gamma production in one of the subjects, whose PBMC produced IFN-gamma after stimulation with SWAP.

SWAP

schistosomiasis


Input: We also report characterization of five polymorphic sites in HGO and describe the haplotypic associations of alleles at these sites in normal and AKU chromosomes.

HGO

AKU

HGO

AKU


Input: We investigated the role of PARP in regulating ET-1 expression and ET-1-induced abnormalities in the targets organs of diabetic complications.

PARP

abnormalities


Input: We determined effects of the vasopeptidase inhibitor (VPI) omapatrilat and angiotensin II type 1 receptor (AT (1) R) blocker (ARB) candesartan in rats during healing between day-2 and day-21 after reperfused myocardial infarction (RMI) on left ventricular (LV) remodeling and function, and regional matrix metalloproteinase (MMP)-9, tissue inhibitor of MMP (TIMP)-3, inducible-nitric-oxide-synthase (iNOS), oxidant-generating myeloperoxidase (MPO), and cytokines tumor-necrosis-factor (TNF)-alpha, interleukin (IL)-6 and IL-10, and transforming-growth-factor (TGF)-beta (1), and collagens.

TIMP

necrosis


Input: A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).

KS

KS


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

alcohol dependence

alcohol dependence


Input: A total of 127 genes were identified as being differentially expressed including MMSET and cyclin D2, which have been previously reported as being associated with this translocation.

cyclin D2

translocation


Input: HIV-1 isolates obtained from plasma and CSF in 28 individuals with varying viral load, CD4 T-cell counts, and with or without AIDS-defining disease were analyzed for the ability to infect NP2. CD4 cells stably expressing a panel of HIV coreceptors (CCR5, CXCR4, CCR3, CXCR6, GPR1, APJ, ChemR23, RDC-1 or BLT1).

viral load


Input: The relative quantification of P-selectin correlated negatively to total ischemic time (p = 0. 01), while genes related to fibrinolysis (t-PA, u-PA, PAI-1), inflammation (PTX3, CXCL9, MCP-1, IL18, TNFα) and plaque instability (MMP-2 and TIMP-1) correlated positively to total ischemic time (all < 0. 05).

inflammation


Input: Our data indicate that activation of N-ras and K-ras genes, as well as loss of heterozygosity for specific alleles on chromosome 7, plays a more important role in the leukemogenesis of both therapy-related leukemia and myelodysplastic syndrome.

N-ras

therapy-related leukemia


Input: In the present study, we examined the effect of soluble CD4 (sCD4) on host resistance and delayed-type hypersensitivity (DTH) response to Cryptococcus neoformans using a novel mutant mouse that exhibits a defect in the expression of membrane-bound CD4 but secretes high levels of sCD4 in the serum.

hypersensitivity


Input: DNA microarry analysis showed significantly increased expression of a number of genes associated with inflammation and astrocytic activation in the spinal cords of rats that developed CNP.

CNP

inflammation


Input: It appears that polymorphism of HSP70-2 gene is not directly associated with the susceptibility to peptic ulcer diseases but BB genotype is associated with an increased risk of duodenal ulcer in older subjects in the Japanese population.

peptic ulcer


Input: Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants.

DS

DS


Input: The translocation t (8; 16) (p11; p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia.

acute monocytic leukaemia


Input: Thus, s/s homozygous participants required minimal exposure to TLE (1 TLE) to acquire a level of risk for depression that was only found among l/s or l/l individuals after significantly higher exposure to TLEs (two or more TLEs).

TLE (1

depression

TLE (1

depression


Input: Together, these data suggest that phosphorylation of the SDT repeats in the MDC1 N terminus functions to recruit NBS1 and, thereby, increases the local concentration of MRN at the sites of chromosomal breakage.

chromosomal breakage


Input: We have now examined the relationships of 22 candidate gene polymorphisms with the prevalence of hypertension and with blood pressure (BP) in a 6-year population-based longitudinal cohort study and observed significant relationships of three polymorphisms of SORBS1, GCK and WISP1 with hypertension.

blood pressure


Input: SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0. 011 and p = 0. 045; AKT1: p = 0. 004 and p = 0. 019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0. 002 and p = 0. 004 for the first and second cohorts, respectively).

SELP

cachexia


Input: In the present case, however, the discordant expression of LFA-1/ICAM-1 adhesion molecules may have accounted for the distinct patterns of growth and the spread of the subcutaneous plasmacytoma through homing of the LFA-1 alpha +, LFA-1 beta + leukemic cells to ICAM-1 + endothelial cells.

adhesion


Input: The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA.

ARSA

MLD

ARSA

MLD


Input: Importantly, in HIV-infected individuals the levels of CD8 (+) CD127 (-) T cells are directly correlated with the main markers of disease progression (i. e., plasma viremia and CD4 (+) T cell depletion) as well as with the indices of overall T cell activation.

viremia


Input: B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).

chronic rhinosinusitis


Input: Lysyl oxidase is essential for hypoxia-induced metastasis.

Lysyl oxidase

hypoxia


Input: Retrospective analysis of local-regional recurrence that occurred during follow-up of 51 consecutive patients operated for a sporadic (n = 26) or hereditary (n = 25) EAP.

EAP

sporadic


Input: In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.

depression

depression


Input: Although PTEN (phosphatase and tensin homologue deleted on chromosome 10) is one of the most commonly mutated tumour suppressors in human cancers, loss of PTEN expression in the absence of mutation appears to occur in an even greater number of tumours.

tensin

cancers


Input: Overexpression of Trx1 in H1299 cells utilizing an inducible construct increased cell survival during hyperoxia, whereas siRNA knockdown of Trx1 during oxygen treatment reduced cell viability.

hyperoxia


Input: The continuation of fetal allergen-specific Th2 responses during infancy is a defining feature of the inductive phase of atopic disease, and is associated with decreased capacity for production of the Th1 cytokine interferon y by atopic neonates.

atopic


Input: Treatment with two doses of 25 micrograms misoprostol/kg body weight at 1 min before ischemia and 1 min before reperfusion significantly reduced the serum levels of OCT and ALT (207 +/-189 IU/liter, P less than 0. 01 and 2075 +/-1217 IU/liter, P less than 0. 01, respectively) and hepatic necrosis.

OCT

hepatic necrosis


Input: We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes.

MRI

malformations of cortical development


Input: In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency.

NAGS

NAGS deficiency

NAGS

NAGS deficiency


Input: Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

Hunter syndrome

Hunter syndrome


Input: The risk analysis showed that under a dominant model, the LIPC C-514T polymorphism was associated with increased risk of type 2 diabetes (OR = 1. 42, P = 0. 029), hypertriglyceridemia (OR = 1. 36, P = 0. 006), and coronary artery calcification (CAC) ≥ 1 (OR = 1. 44, P = 0. 015) and decreased risk of hypoalphalipoproteinemia (OR = 0. 78, P = 0. 036).

CAC

coronary artery calcification