Input: The reductions in GAP-43 and serotonin 1A receptor expressions are comparable with findings in mood disorder, supporting the possibility that the latter reflect an early developmental contribution to disease vulnerability.

mood disorder

mood disorder


Input: This case-control study investigated the association of IL-6-572 G/C and IL-1A-889 C/T gene polymorphisms with acne in a Pakistani population.

T gene

acne


Input: Perturbation of eight out of the nine genes, with Gas7, Me1 and Gpx3 being newly confirmed, resulted in significant changes in obesity-related traits.

obesity

obesity


Input: Reduced nBRCA1 expression was associated with higher histological grade and positive Ki67 both in sporadic (p = 0. 0010, p = 0. 047) and familial groups (p < 0. 001, p = 0. 001).

sporadic


Input: p27 (BBP) alterations are common events in the transition to malignancy and are probably involved in squamous carcinoma progression.

BBP

malignancy


Input: We conclude that IGF-I effects sustained improvement of renal function (clearances comparable to those generally achieved by dialysis) in patients with ESRD and is well tolerated.

IGF-I

ESRD

IGF-I

ESRD


Input: Although CMS exposure alone had no effect in the hippocampus, it inhibited the sleep deprivation-induced eIF4E phosphorylation, while inducing phosphorylation of a major regulatory RNA-binding protein, cytoplasmic polyadenylation element-binding protein (CPEB) in the combined treatment.

CPEB

sleep deprivation


Input: The study also suggests that TP53 may function as a potential molecular marker and prognostic tool, at least in a subset of sporadic Kangri tumors.

sporadic


Input: Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells.

breast cancer

breast cancer


Input: In order to further explore this association by considering GAS6 haplotypes and the main stroke subtypes, 457 patients with ischemic stroke, 199 with hemorrhagic stroke and 150 asymptomatic controls were genotyped for eight GAS6 polymorphisms and other genetic markers in the same genome region.

ischemic stroke


Input: For a ZFAT Ex9b-SNP10 polymorphism, the TT genotype and T allele were significantly more frequent in patients with severe Hashimoto' s disease (HD) than in those with mild HD (P = 0. 0029 and P = 0. 0049, respectively).

ZFAT

mild


Input: Angiopoietins are ligands for Tie-2 receptors and play important roles in angiogenesis and inflammation.

inflammation


Input: Immunohistochemical evaluation of skin from prurigo nodularis patients confirmed an upregulation of the ET-1/ETAR/ECE-1/ERK1/2 axis in patients with chronic itch.

itch


Input: To extend knowledge on the mechanisms and pathways involved in maintenance of radiation-induced fibrosis (RIF) by performing gene expression profiling of whole blood from breast cancer (BC) survivors with and without fibrosis 3-7 years after end of radiotherapy treatment.

RIF

fibrosis


Input: We report a unique UFSP2 mutation that segregates with the BHD phenotype.

BHD

BHD


Input: The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.


Input: Nonetheless, chromatid-type chromosomal aberrations were only 1. 5 to 2 times more abundant in XP-V than in NHF exposed to the same UVC dose.

XP-V

chromosomal aberrations


Input: To test the role of HOXB8 in gastric cancer metastasis, the cell transwell assay was performed.

gastric cancer


Input: In SG600-p53, the E1a gene with a deletion of 24 nucleotides within CR2 region is controlled under the human telomerase reverse transcriptase (hTERT) promoter, the E1b gene expression is directed by the hypoxia response element (HRE), whereas the p53 gene is controlled by the cytomegalovirus promoter.

hypoxia


Input: We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3. 58 at theta = 0. 0).

benign familial hematuria

benign familial hematuria


Input: A set of 662 FFPE DNA samples not only confirmed that APOLD1 and SRPX2 are hypomethylated in CRC but also revealed hypomethylation to be significantly (p < 0. 01) associated with tumors being localized in the left side, CpG island methylator phenotype negative, MSS, BRAF wt, undifferentiated and of adenocarcinoma histosubtype.

tumors


Input: We have quantified the discreet dissociation constants for wild-type superoxide dismutase 1 and six naturally occurring sequence variants, in their unmodified and glutathionylated forms, at the ratios expressed.

superoxide dismutase 1

dissociation


Input: In addition, a significant increase in blood flow was assessed by a Doppler flow wire and the ratio in blood pressure of the ischemic limb to the normal limb was observed in rabbits transfected with HGF plasmid as compared with rabbits transfected with control vector (P < 0. 01).

HGF

blood pressure


Input: The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anterior-medial muscles at the calf level.

MRI

hypertrophy


Input: We show that depletion of Rad52 in mouse lung tumor cells alters cell cycle distribution and increases DNA damage accumulation associated with increased tumor cell death.

lung tumor

lung tumor


Input: This review provides a summary of the evidence implicating HLA-G in liver diseases.

HLA-G

liver diseases


Input: The findings indicate that alterations of the adenomatous polyposis coli and the p53 genes are relatively frequent in sporadic ampullary carcinomas.

p53 genes

sporadic


Input: This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).

muscle hypertrophy


Input: Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

best macular dystrophy

best macular dystrophy


Input: The National Institute for Health and Care Excellence (NICE) invited GlaxoSmithKline, the manufacturer of dabrafenib, to submit evidence for the clinical and cost effectiveness of dabrafenib for the treatment of unresectable, advanced or metastatic BRAF V600 mutation-positive melanoma in accordance with the Institute' s Single Technology Appraisal (STA) process.

STA

melanoma


Input: Subsequently, 48h after MCAO, arterial blood pressure, infarct volume, water content, BBB permeability, BBB ultrastructure, levels of aquaporin-4 (AQP4) and its mRNA were evaluated.

infarct


Input: NAT2 slow vs. rapid/intermediate acetylation genotype was not related to breast cancer risk (0. 99 (0. 87-1. 13)), and did not significantly modify the smoking relationships.

smoking


Input: Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.

sporadic


Input: Homozygous Bmal1 null mice were 30% lighter at weaning, and while they grew at a similar rate to the wild-type mice, they never achieved a comparable body weight.

body weight


Input: This first exploratory systematic study of the HDAC genes provides consistent support for the involvement of the HDAC3 gene in the etiology of schizophrenia.

schizophrenia

schizophrenia


Input: Diabetes-induced LV diastolic dysfunction (prolonged deceleration time, elevated end-diastolic pressure, impaired E/A ratio), cardiomyocyte hypertrophy and fibrosis, expression of atrial natriuretic peptide, connective tissue growth factor, and β-myosin heavy chain were all attenuated by CoQ (10).

heavy chain

diastolic dysfunction


Input: Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown.

MIM

mesomelic dysplasia


Input: Genetic alterations of p16INK4a and p53 genes in sporadic dysplastic nevus.

p53 genes

sporadic


Input: Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB.

CSNB

CSNB


Input: To test this, we used a previously described transgenic mouse model of wound-induced skin tumorigenesis, in which expression of constitutively active MEK1 in differentiating epidermal cells results in chronic inflammation (InvEE mice).

tumorigenesis


Input: Similar to the parosteal osteosarcoma, the periosteal osteosarcoma expressed IGF2 and IMP3 mainly with nuclear staining simultaneously, forty out of fifty-five cases of periosteal osteosarcoma did that.

parosteal osteosarcoma


Input: Genomic instability at dinucleotide microsatellite loci in chromosomes 2, 13, and 17 and at 2 mononucleotide repeat loci was examined in liver tissues from 41 patients, including 30 without HCC (18 patients with chronic hepatitis and 12 with cirrhosis) and 11 with HCC.

HCC

chronic hepatitis


Input: Of the 21 genes, 15 are not presently identified, and only 3 genes (cathepsin K, GRK6, and a gene with accession number AI177589) are located in chromosome regions known to be associated with schizophrenia.

cathepsin K

schizophrenia

cathepsin K

schizophrenia


Input: The HCC development was associated with expression of early HCC markers (glutamine synthetase, glypican 3, heat shock protein 70, and the serum marker alpha fetoprotein), although without fibrosis.

glutamine synthetase

fibrosis


Input: Of the 21 genes, 15 are not presently identified, and only 3 genes (cathepsin K, GRK6, and a gene with accession number AI177589) are located in chromosome regions known to be associated with schizophrenia.

schizophrenia

schizophrenia


Input: Lidocaine attenuates monocyte chemoattractant protein-1 production and chemotaxis in human monocytes: possible mechanisms for its effect on inflammation.

monocyte chemoattractant protein-1

inflammation

monocyte chemoattractant protein-1

inflammation


Input: Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.

breast cancer

breast cancer


Input: We measured resting plasma levels of clotting factor VII activity (FVII: C), FVIII: C, FXII: C, fibrinogen, and D-dimer in 14 otherwise healthy patients with PTSD and in 14 age-and gender-matched, trauma-exposed non-PTSD controls.

FVIII

fibrinogen


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

breast cancer

breast cancer


Input: We screened 6 single-nucleotide polymorphisms (SNPs) in the 5'-upstream region of PDGFRB and conducted a case-control study of 381 SCZ patients and 752 controls.

PDGFRB

SCZ

PDGFRB

SCZ


Input: Among these yeast Ubr1 mutants, one of them (H160R) was inactive in yeast-based activity assays, the other one (Q1224E) had a detectable but weak activity, and the third one (V146L) exhibited a decreased but significant activity, in agreement with manifestations of JBS in the corresponding JBS patients.

JBS

JBS


Input: In case 2, we detected another novel HJV mutation (g. 2297delC) in heterozygosity, which was inherited from the mother, affected by mild iron deficiency.

HJV

mild


Input: The same missense mutation, p. Ser422Leu (c. 1265C & gt; T) in KCNJ8, was identified in 3 BrS and 1 ERS probands but was absent in 430 alleles from ethnically matched healthy controls.

BrS

BrS


Input: Significant interaction in the OPRA cohort was observed for LRP4 with BMP2 and GPR177 for FN BMD as well as for rate of bone loss at TB and FN (p = 0. 007-0. 0001).

bone loss


Input: The observations provide the first comparative molecular characterization of desmoid tumours and nodular fasciitis and suggest that selected tyrosine kinases, transcription factors, and members of the Wnt, TGF-beta, IFN, and TNF signalling pathways may be implicated in influencing and distinguishing their fate.

TGF-beta

nodular fasciitis


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

neuroblastoma

neuroblastoma


Input: We have also investigated the effect of histamine H4 receptor antagonists on histamine H1 receptor antagonist-resistant pruritus using a mouse model.

histamine H1 receptor

pruritus

histamine H1 receptor

pruritus


Input: All of them had a determination of UAE as the urinary albumin creatinine ratio (ACR), a convenient index of UAE, together with blood pressure and other variables, such as age, sex, and body mass index.

ACR

blood pressure


Input: To determine the association between apolipoprotein A1 (APOA1)-75 guanine [G] to adenine [A] and + 83/84 M2 (+/-), MspI) and apolipoprotein C3 (APOC3) (SstI) polymorphisms with gallstone disease.

gallstone disease


Input: Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6D.

micropenis


Input: One of the genes most susceptible to breakage/translocation in soft tissue tumors is represented by Ewing sarcoma breakpoint region 1 (EWSR1).

translocation


Input: ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.

ENG

juvenile polyposis

ENG

juvenile polyposis


Input: Understanding early-life immune mechanisms responsible for atopic diseases, specifically how cytokines of T-regulatory cells act to balance the Th1 and Th2 immune response, continues to be a fruitful area of research.

atopic


Input: TfR-induced oxidant accumulation modified cellular signaling by inactivating a protein tyrosine phosphatase (low-molecular-weight protein tyrosine phosphatase), activating mitogen-activated protein kinase and Akt and by inactivating p21/cdkn1a and pRB.

weight


Input: The objective of this study was to determine the molecular basis of infancy-onset diabetes and a mild form of intermediate DEND, resulting from a novel KCNJ11 in frame mutation plus deletion.

mild


Input: Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.

OCa

OCa


Input: The TFs investigated are known to be typically responsive to heat shock (HSF), hypoxia (HIF-1), pro-and antioxidant conditions (AP-1), or to various environmental changes (HNF-1 and ATF/CREB family).

hypoxia


Input: Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome.

Keipert syndrome

Keipert syndrome


Input: The pain mediator prostaglandin E2 (PGE2) sensitizes nociceptive pathways through EP2 and EP4 receptors, which are coupled to Gs proteins and increase cAMP.

pain


Input: To determine whether the absence of the XT2 transporter affected sodium and fluid homeostasis, we measured systolic blood pressure by computerized tail-cuff manometry.

systolic blood pressure


Input: The 108 related individuals had diagnoses of BPI (7), bipolar II (2), cyclothymia (3), or major depressive disorder (19).

BPI

major depressive disorder


Input: Using human HCC tissues and cell lines HLE, Hep3B, and Huh7, we investigated whether fascin-1 is involved in epithelial-mesenchymal transition (EMT) and increases invasiveness, thus serving as a promoter of cancer aggressiveness.

HCC

aggressiveness


Input: A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs.

sporadic


Input: Transforming growth factor beta1 (TGF beta1) induces renal hypertrophy and fibrosis, and cytokines like tumor necrosis factor-alpha (TNFalpha), chemoattractant protein-1 (MCP-1), and regulated upon activation and normal T cell expressed and secreted (RANTES) mediate macrophage infiltration into kidney.

RANTES

fibrosis


Input: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Joubert syndrome

Joubert syndrome


Input: When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay.

mild


Input: TP53 mutations were significantly more frequent in tumours with mutations in BRCA1 (70% by immunostaining and 60% by DNA analysis) and BRCA2 (67% and 50%) compared to sporadic controls (39% and 30%) (P = 0. 009).

sporadic


Input: In boys with familial male-limited precocious puberty, an activating mutation of the luteinizing hormone receptor causes Leydig cell hyperplasia, resulting in excess testosterone production.

luteinizing hormone receptor

familial male-limited precocious puberty

luteinizing hormone receptor

familial male-limited precocious puberty


Input: The expression levels of HOXB8 mRNA in human gastric cancer tissues were analyzed through quantitative RT-PCR.

gastric cancer


Input: Taken together, our studies of UM reveal a critical role of HIC1 in the regulation of tumorigenesis, at least partly through its downstream target, lncRNA-numb, and provide a potential therapeutic target for UM.

tumorigenesis


Input: by PAX5 (paired box 5); and BCL-2 (B-cell CLL/lymphoma 2) and IGFBP-6 (insulin-like growth factor binding protein 6) by GLI1.

lymphoma


Input: Metallothionein, natriuretic peptides, coagulation factor VII, cysteine proteinase inhibitor, peroxisome proliferator activator receptor gamma and myosin light chain kinase genes were previously suspected to be related to several cardiovascular diseases, however, most of these genes have not previously been shown to be related to myocardial ischemia/reperfusion.

coagulation factor VII

myocardial ischemia


Input: Patients with tumor tissues that UBD-positive expression alone or in combination with p65 nuclei translocation recurred early had a significantly shorter survival time (P < 0. 001), especially in stage IIB-IIC patients.

UBD

translocation


Input: Involvement of microtubule-associated protein 2 (MAP2) in oral cancer cell motility: a novel biological function of MAP2 in non-neuronal cells.

oral cancer


Input: Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-inflammatory properties.

Urocortin

edema


Input: Three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3beta-HSD deficiency.

3beta-HSD deficiency

3beta-HSD deficiency


Input: LRRC3B methylation has significant tumor specificity and may be a biomarker of CRC.

CRC

CRC


Input: Also, 4. 1G deletions were seen in 11/27 (41%) patients who either died of disease or had residual/recurrent tumor vs 5/41 patients with no evidence of disease at last follow-up (P = 0. 009).

4. 1G

recurrent tumor


Input: With respect to CRF-BP, no significant difference in placental mRNA expression was observed among samples collected after term or preterm delivery and cesarean delivery.

CRF-BP

preterm delivery


Input: A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently identified on chromosome 6p22.

LD

LD


Input: The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers.

sporadic


Input: Specifically, microRNA-21 (miR-21) is predicted as a PH-modifying microRNA, regulating targets integral to bone morphogenetic protein (BMP) and Rho/Rho-kinase signaling as well as functional pathways associated with hypoxia, inflammation, and genetic haploinsufficiency of BMP receptor type 2.

hypoxia


Input: We determined the distribution of hippocampal FGF-2 and its receptor (FGFR1) mRNA in post-mortem brains of people who suffered from major depression, bipolar disorder and schizophrenia and those of controls.

major depression

major depression


Input: Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

HRAS

Costello syndrome

HRAS

Costello syndrome


Input: Treatment with IGF-I alone induced a significant increase in body length (108% of control) and weight (112%) as well as an increase in weight of the submandibular salivary glands (135%), kidneys (124%), femoral muscles (111%), testes (129%), and spleen (126%) compared with saline-treated controls.

IGF-I

weight


Input: This study compared hyperoxia or ACN treatments of rats with respect to lipid peroxidation and PLC levels in the heart and cerebral cortex.

ACN

hyperoxia


Input: Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

hyperphosphatasia with mental retardation

hyperphosphatasia with mental retardation


Input: In addition, breast cancer risk was significantly associated with an increasing number of combined variant alleles of XRCC1 Arg194Trp, XRCC3 Thr241Met, and ERCC4/XPF Arg415Gln in a four-level model (P (trend) = 0. 04): OR = 1. 0 for those without a variant allele (referent group); OR = 1. 04 (95% CI = 0. 67-1. 61) for those with one variant allele; OR = 1. 38 (95% CI = 0. 83-2. 29) for those with two variant alleles; and age-adjusted OR = 2. 60 (95% CI = 1. 03-6. 59) for those with three or more variant alleles after adjustment for age, family history, age at menarche, age at first live birth, and body mass index.

body mass index


Input: We therefore examined the possible interaction between the T393C polymorphism and gamma-glutamyl transpeptidase (GGT), which is an established biomarker of alcohol consumption, in the association with glucose metabolism as well as with hypertension in a Japanese population.

GGT

alcohol consumption


Input: The presence of anti-r beta 2GP1 antibodies was associated with an increased frequency of history of thrombosis and/or recurrent abortion; hence anti-r beta 2GP1 assay provided better specificity than conventional ACL assay.

ACL

recurrent abortion


Input: All sporadic odontogenic keratocysts were negative for p53 and cyclin D1.

sporadic


Input: The SNPs of IRS-2 gene 3'-UTR in 4 patients with Type 2 diabetes mellitus were detected by PCR-DHPLC and were identified by DNA sequencing. diabetes mellitus.

UTR

diabetes


Input: Levels were correlated with demographic and clinical variables, cerebrospinal fluid Abeta1-42, total tau and phospho-tau levels, as well as with single nucleotide polymorphisms (SNPs) of genes which either have been reported to influence the immune system, the amyloid cascade or the occurrence of PD (ApoE, GSK3B, HLA-DRA, HSPA5, SNCA, and STK39).

HLA-DRA

amyloid


Input: Physiologically, the triggering of TRPV2 by agonists/activators (e. g., growth factors, hormones and cannabinoids), by inducing TRPV2 translocation from the endosome to the plasmatic membrane, inhibit cell proliferation and induce necrosis and/or apoptosis.

necrosis


Input: Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

KIT ligand

familial progressive hyperpigmentation

KIT ligand

familial progressive hyperpigmentation


Input: Here, we demonstrate that overexpression of CKB-C283S, a dominant-negative construct that lacks the kinase function but retains its ability to dimerize, causes remarkable changes in cell shape, adhesion, and invasion.

CKB

adhesion


Input: Additionally, these studies suggest that regulation of GR-mediated plasticity may play a role in the treatment of bipolar disorder and raise the possibility that agents affecting BAG-1 more directly may represent novel therapies for this devastating illness.

bipolar disorder

bipolar disorder


Input: Vitamin D and DBP levels were measured by tandem mass spectrometry and ELISA, respectively, in serum and DBP in the sol phase of sputum in a subset of 60 patients.

DBP

sol


Input: In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting.

SDHD

PGL

SDHD

PGL


Input: To assess potential effects of variants in six lipid modulating genes (SORT1, HMGCR, MLXIPL, FADS2, APOE and MAFB) on early development of dyslipidemia independent of the degree of obesity in children, we investigated their association with total (TC), low density lipoprotein (LDL-C), high density lipoprotein (HDL-C) cholesterol and triglyceride (TG) levels in 594 children.

obesity in children


Input: Here, we show for the first time that expression of FRNK negatively regulates IL-4-mediated inflammation in a human model of eosinophil recruitment.

inflammation


Input: In available genome-wide association results from the Psychiatric Genomics Consortium we found that SNPs in CTNND2 collectively showed an increased signal for schizophrenia (P & #8201; & lt; & #8201; 1e (-5)) and major depressive disorder (P & #8201; & lt; & #8201; 1e (-5)), but not for bipolar disorder.

major depressive disorder

major depressive disorder


Input: On day 1 after ischemia, however, CAD mRNA and protein were significantly increased in the CA1 sector, and then CAD protein immunohistochemically showed a translocation from the perikarya into the nucleus.

translocation


Input: Our results showed that BPA-treated rabbits showed insulin resistance, prominent adipose accumulation and hepatic steatosis.

BPA

hepatic steatosis


Input: Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene.

Craniofacial abnormalities

Craniofacial abnormalities


Input: These results suggest that p11 loss in rodent and human nucleus accumbens may contribute to the pathophysiology of depression.

depression

depression


Input: We therefore investigated the involvement of SHH signaling in the pathogenesis of neuroblastoma (NB), a common childhood malignant tumor of the sympathetic nervous system.

SHH

neuroblastoma


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

LPA

fibrosis


Input: High plasma CXCL10 levels are associated with HCV-genotype 1, and higher insulin resistance, fibrosis, and HIV viral load in HIV/HCV coinfected patients.

fibrosis


Input: In normal esophageal and ESCC tissues, the positive detection rates were 21. 0% (13/62) and 69. 4% (43/62) for NS mRNA staining, 40. 3% (25/62) and 77. 4% (48/62) for EGF mRNA staining, and 30. 6% (19/62) and 75. 8% (41/62) for EGFR mRNA staining, respectively.

EGF

esophageal


Input: Mice lacking pituitary adenylate cyclase-activating polypeptide (PACAP) are prone to sudden death in the second post-natal week, having respiratory and metabolic disturbances reminiscent of the human Sudden Infant Death Syndrome (SIDS).

PACAP

sudden death


Input: Sequencing analysis of the 3 patients revealed the presence of a novel heterozygous T-to-C transition mutation in exon 1 of the keratin 13 gene, with no abnormalities detected in the keratin 4 gene.

keratin 4

abnormalities


Input: ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

mitochondrial trifunctional protein beta-subunit

hepatic steatosis

mitochondrial trifunctional protein beta-subunit

hepatic steatosis


Input: We quantified mRNA expression of subcutaneous adipose tissue fatty-acid-handling proteins (ALBP, KLBP, FATP1, FATP4, CD36, ACS1) in 17 monozygotic twin-pairs with a range of intra-pair differences (Delta) in BMI and detailed measures of obesity and insulin resistance, allowing influences of genetic and non-genetic factors to be distinguished.

insulin resistance


Input: Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

ZAK

congenital myopathy with fibre type disproportion

ZAK

congenital myopathy with fibre type disproportion


Input: In this article, Alberto Kaumann suggests that 5-HT may be involved in the genesis of atrial fibrillation and associated thromboembolic stroke and that both the arrhythmia and stroke could be prevented by inhibiting 5-HT4 receptors.

stroke

stroke


Input: The CHEK2 * 1100delC variant was found in 1. 2% of the cases (sporadic: 0. 7%; familial: 1. 6%; hereditary: 1. 4%) and in 1. 0% of the controls.

sporadic


Input: We analyzed the expression of 15S-lipoxygenase-2 (15-LOX-2) mRNA and protein in surgical specimens from normal (N = 37) and malignant (63) esophageal tissues using in situ hybridization and immunohistochemistry (IHC), and in normal (1), premalignant (1), and malignant (5) esophageal cell lines using Northern and Western blotting.

esophageal


Input: MDD exhibited significant antiviral and anti-inflammatory effects on decreasing levels of Eotaxin, IL-4 and IFN-γ in serum and lung tissue, inhibiting pneumonia, decreasing lung viral loads and reversaling RSV-induced inflammation through down-regulation of TLR4 and NF-κB mRNA expression in the lung tissue of RSV-infected mice.

inflammation


Input: A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase.

arginase 1

drug-induced liver injury

arginase 1

drug-induced liver injury


Input: We conclude that mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant.

AIRE

APECED

AIRE

APECED


Input: The pathophysiological aspects of radiation-induced fibrosis (RIF) have not been well characterized.

RIF

fibrosis


Input: The XRCC1 rs25487 polymorphism may influence the development of cirrhosis in viral hepatitis patients, and additional investigation will be necessary.

viral hepatitis


Input: In untransfected cells or in cells transfected with GFP-empty vector construct we observed weak apoptosis concomitant with mild depolarization of mitochondrial membrane, depletion of reduced glutathione and release of cytochrome c. Following silencing of p53 or p21 we observed extensive apoptosis concomitant with extensive depolarization of mitochondrial membrane and depletion of reduced glutathione.

cytochrome c

mild


Input: The new MLH1 variant confers a high risk of CRC and identifies a previously unrecognized mechanism in microsatellite-stable tumors.

CRC

CRC


Input: To study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain.

HFE gene

sporadic


Input: Semiquantitative reverse transcription-polymerase chain reaction with microdissection demonstrated that Notch-1 expression was continuous from precursor lesions to carcinoma cells, whereas Pdx-1 expression was attenuated in carcinoma cells compared to precursor lesions.

carcinoma


Input: An interaction with early maternal smoking was found for three TNF SNPs (-857C/T, Intron 1, Intron 3) with respect to early wheeze (up to 2 years of age).

TNF

smoking


Input: Therefore, we determined the methylation status of the MSH2 gene in 268 CRC tissues, including 222 sporadic CRCs and 46 Lynch syndrome tumors that did not express MSH2.

sporadic


Input: Our findings suggest that the CLOCK C3111T polymorphism may affect personality traits in healthy Japanese subjects.

CLOCK

personality traits


Input: The candidate genes COQ2, ATP2B1, and DMPK, representing pathways involved in myocellular energy transfer, calcium homeostasis, and myotonic dystonia, respectively, were validated as markers for the common myalgia observed in patients receiving statin therapy.

myalgia


Input: The E22K-RLC mutation has been associated with a rare variant of cardiac hypertrophy defined by mid-left ventricular obstruction due to papillary muscle hypertrophy.

RLC

cardiac hypertrophy


Input: Since genetic variations in the GTP cyclohydrolase (GCH1) gene have been reported to protect some patients from pain, we investigated the effect of the " pain protective haplotype " in well characterized patients with chronic pancreatitis (CP) or recurrent acute pancreatitis (RAP) from the North American Pancreatitis Study 2 (NAPS2).

RAP

recurrent acute pancreatitis


Input: The breast cancer SIR was 10. 6 (95% CI, 5. 2-21. 6) for relatives of breast cancer patients, compared with 3. 3 (95% CI, 1. 4-7. 3) for relatives of ovarian cancer patients (two-sided P = 0. 02 for difference by site).

breast cancer


Input: PTs showed hypermethylation of A isoform of the RAS-association domain family 1 (RASSF1A), adenomatous polyposis coli (APC), chemokine C-X-C motif ligand 12 (CXCL12), and disintegrin and metalloprotease domain 23 (ADAM23) (means 38. 98%, 24. 84%, 12. 04%, and 10. 01%, respectively).

adenomatous polyposis coli


Input: Previous studies have shown that cochlin is cleaved by aggrecanase-1 during inflammation in the spleen and that the cleaved LCCL domain functions as an innate immune mediator.

cochlin

inflammation


Input: The aim of this retrospective multicenter study was to assess the correlation between TS, 5, 10-methylenetetrahydrofolate reductase (MTHFR) and excision repair cross-complementing group 1 (ERCC1) gene polymorphisms and the efficacy of pemetrexed-based first-line chemotherapy of mesothelioma patients.

MTHFR

mesothelioma


Input: The insulin resistance associated with glucotoxicity in our model reflects in part decreased availability of PtdIns (3, 4, 5) P3, which correlates with increased PTEN protein expression.

PTEN

insulin resistance

PTEN

insulin resistance


Input: COMT polymorphisms in impulsively violent offenders with antisocial personality disorder.

COMT

antisocial personality disorder


Input: Finally, plasma Angptl4 was independently and negatively associated with carotid artery sclerosis measured by 3-T MRI in subjects with metabolic syndrome and low-grade systemic inflammation.

MRI

inflammation


Input: Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed.

NF2 gene

sporadic


Input: Myocilin is expressed in podocytes of the kidney and induced in mesangial cells during experimental mesangioproliferative glomerulonephritis.

Myocilin

glomerulonephritis


Input: Interestingly, prevalence of overweight/obesity was lower among carriers of at least three minor alleles of the-3826A/G and ADRB3 Trp64Arg polymorphisms than among patients with fewer than three minor alleles (54. 5% vs. 79. 1%; OR = 0. 288; P = 0. 007, respectively).

overweight


Input: After excluding subjects with chromosomal disorders, there were no significant correlations between AR levels and other indices of androgen action, such as semen volume, seminal fructose, or sex hormone-binding globulin levels.

sex hormone-binding globulin

chromosomal disorders


Input: Factor IX BM Nagoya (IX Nagoya) is a natural mutant of factor IX responsible for severe hemophilia B.

factor IX

hemophilia B

factor IX

hemophilia B


Input: The PAC1 receptor antagonist, PACAP (6-38), abolished MMA dilation caused by picomolar concentrations of PACAP.

PACAP

dilation


Input: The degree of myelosuppression following HD-MTX was similar for patients with TPMT (IA) and patients with high TPMT activity (TPMT (HA)), when HD-MTX started with same blood counts and 6MP doses.

MTX

myelosuppression


Input: Though targets for TSHR autoimmunity could clearly be shown, immunization methods were not efficient enough to cause clear signs of orbital inflammation.

TSHR

inflammation


Input: We further showed that knockdown of Dnmt1 and restoration of SFRP1 inhibited core-induced in vivo tumor growth and aggressiveness in a xenograft HCC model.

aggressiveness


Input: Under a high-sucrose diet, transgenic mice had insulin resistance and mild glucose intolerance; under a high-salt diet, they had elevated blood pressure with increased renal RAS-related C3 botulinum substrate 1 (RAC1)-GTP, which is an activator of mineralocorticoid receptor.

mild


Input: HIV-1 Nef expression in microglia induced CCL2 expression together with disrupting striatal dopaminergic transmission, resulting in hyperactive behaviors which are observed in mania and other psychiatric comorbidities among HIV-infected persons.

mania

mania


Input: The regression analysis of cancer risk as a function of the amount of smoking showed that the susceptibility of people who had GSTM1 null genotype increased from 45 pack-years, while the susceptibility of people with NAT2 intermediate or slow genotype increased rapidly from 25 pack-years, compared with non-smokers.

smoking


Input: In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis.

JP

JP


Input: Thus, the Ca (2 +)-sensing receptor gene is a candidate parathyroid tumor suppressor gene, with inactivating mutations plausibly explaining set-point abnormalities in the regulation of both parathyroid cellular proliferation and PTH secretion by extracellular Ca2 + similar to those seen in hyperparathyroidism.

parathyroid tumor


Input: Neuropeptides (1-100 pmol per site) such as rat calcitonin gene-related peptide (CGRP), SP, neurokinin A (NKA), and vasoactive intestinal peptide (VIP), which are released from capsaicin-sensitive neurones, caused ear oedema by intradermal injection.

calcitonin

oedema

calcitonin

oedema


Input: The aim of this study was to investigate the influence of HLA-B27, MRI BMO and psoriasis on long-term outcomes in early SpA-related knee joint oligoarthritis.

MRI

oligoarthritis


Input: Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation.

PPARG

translocation


Input: DNMT1 and DNMT3a were immunoreactive in 100 and 48% of HCCs and 52 and 0% of non-neoplastic liver tissues.

non-neoplastic


Input: The marked increase in the number of TUNEL-positive cells found in the CA1 region after ischemia was almost completely abolished by the hrHGF treatment.

ischemia


Input: The HE (3 to 100 mg kg (-1), p. o., 1 h) inhibited in a graded manner, the hyperalgesia induced by bradykinin (3 nmol/paw) or substance P (10 nmol/paw) in rat paw, with mean ED50 values of 54. 5 and 53. 7 mg kg (-1), respectively.

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: Additionally, loss of MMR appears to accelerate tumorigenesis in an Apc deficient background.

MMR

tumorigenesis


Input: The CHK2 gene, whose product is a checkpoint kinase that plays a central role in DNA damage response and acts upstream of TP53, has been found to be mutated in a subset of Li-Fraumeni syndrome without mutations of TP53 and in some other sporadic human tumors, earmarking this serine/threonine kinase as a candidate tumor suppressor gene.

sporadic


Input: Sex hormone binding globulin and insulin resistance.

Sex hormone binding globulin

insulin resistance


Input: The most common clinical subtypes of primary aldosteronism are aldosterone-producing adrenocortical adenoma (APA) and bilateral adrenal cortical hyperplasia (idiopathic hyperaldosteronism, or IHA).

APA

adrenocortical adenoma


Input: We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.

tremor


Input: We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.

Crouzon syndrome

Crouzon syndrome


Input: Similarly, higher risks of lung or bladder cancer seen at various levels of smoking in association with polymorphism of the glutathione S-transferase gene GSTM1 or NAT1 and NAT2 genes involved in N-acetylation are reviewed.

smoking


Input: Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome.

MPPH

MPPH


Input: The associations of cytochrome P450 1A1-Hinc II (CYP 1A1-Hinc II) and glutathion S-transferase-theta (GSTT1) polymorphisms with heavy primary dysmenorrhea were evaluated by Logistic regression, with adjustment for potential confounders.

primary dysmenorrhea


Input: TIS21 negatively regulates hepatocarcinogenesis by disruption of cyclin B1-Forkhead box M1 regulation loop.

cyclin B1

hepatocarcinogenesis


Input: The phenotype of the murine leukemias is CD4-CD8 +, in contrast to human leukemias, which are predominantly CD4 + CD8-.

leukemias


Input: We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals.

transcortin

depression

transcortin

depression


Input: We studied the expression of PRDX1 and PRDX6, in a series of thyroid tissue samples, covering different thyroid diseases, including 13 papillary thyroid carcinomas (PTCs).

thyroid diseases


Input: Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.

sporadic


Input: Individual one-to-one correlation analysis of hyperalgesia and gene expression revealed that changes of Nav1. 7 (SCN9A) mRNA levels at 6 and 24 h correlated to the intensity of mechanical hyperalgesia recorded at 24 h post UV-irradiation (Pearson r: 0. 57, p < 0. 04 and r: 0. 82, p < 0. 001).

mechanical hyperalgesia


Input: Notch3, JAG1, Hes2, Hes4 and Hes5 were frequently hypermethylated in B leukemia cell lines and primary B-ALL, in contrast to T-ALL cell lines and patient samples.

leukemia


Input: Reflecting therapy standards, we applied in our in vitro model fractionated RT with a single dose of 2Gy and clinically relevant concentrations of CT. Not only the impact of RT and/or CT with TMZ and/or VPA on the clonogenic potential and cell cycle of the glioblastoma cell lines T98G, U251MG, and U87MG was analyzed, but also the resulting cell death forms and release of danger signals such as heat-shock protein70 (Hsp70) and high-mobility group protein B1 (HMGB1).

shock


Input: In two patients heteroplasmic for the base pair (bp) 3243 mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS), RRF contained a great excess of mtDNA and transcripts of all species.

RRF

encephalopathy


Input: In 7 hemangiopericytomas, SPF was significantly higher compared to the benign meningioma group, while only 1 tumor was aneuploid.

SPF

benign meningioma


Input: Based on our literature review, WDR72 mutations associated with dRTA have not been previously described.

dRTA

dRTA


Input: Neuronal injury in manganese neurotoxicity (manganism) is thought to involve activation of astroglial cells and subsequent overproduction of nitric oxide (NO) by inducible nitric oxide synthase (NOS2).

manganism

manganism


Input: In addition, CCR5-deficient mice had an enhanced delayed-type hypersensitivity reaction and increased humoral responses to T cell-dependent antigenic challenge, indicating a novel role of CCR5 in down-modulating T cell-dependent immune response.

hypersensitivity reaction


Input: Triple-negative breast cancer (TNBC), an immunophenotype defined by the absence of immunolabeling for estrogen receptor (ER), progesterone receptor (PR) and HER2 protein, has a highly aggressive behavior.

aggressive behavior


Input: Rates of dimer dissociation, measured by a time-resolved cross-linking assay, and conformational changes in SOD1' s beta-barrel core, monitored by tryptophan fluorescence intensity, were compared with the rates of copper release and zinc release.

SOD1' s

dissociation


Input: Results showed that NO production and iNOS mRNA expression in alveolar macrophages (AMs) were significantly increased along with significant increases in lung histological abnormalities and BAL proteins in the ANP group, all of which were further enhanced by pretreatment with L-Arg and attenuated by pretreatment with L-NAME, respectively.

ANP

abnormalities


Input: We genotyped six PON3 tagging single nucleotide polymorphisms (tagSNPs) and examined their associations with PON1 activity, SLE risk, antiphopholipid autoantibodies (APA), lupus nephritis, carotid vascular disease, and inflammation.

APA

lupus nephritis


Input: Simple steatosis, hyperinsulinemia, hyperglycemia, insulin resistance, hypertriglycemia and marked increases in hepatic CYP2E1 and 4-HNE were present in 30-wk-old untreated OLETF rats.

hyperinsulinemia


Input: These substrates are either parts of important signalling cascades (EGF, betacellulin, TGF-beta) or chemical components of myelin (neurofascin-ankyrin) known to be compromised in schizophrenia.

betacellulin

schizophrenia

betacellulin

schizophrenia


Input: In this study, we investigated the role of NF-κB in the adhesion of breast cancer cells to a substrate by using (-)-DHMEQ, a specific inhibitor of NF-κB.

NF-κB

adhesion


Input: Cyclin E and cyclin D1 expression distinguishes non-BRCA1/2 tumors from both sporadic and BRCA1-and BRCA2-associated tumors and may reflect different predisposition and pathogenesis in these groups.

sporadic


Input: The parental and engineered stem cells (HB1. F3, HB1. F3. CD, and HB1. F3. CD. IFN-β) significantly migrated toward endometrial cancer cells (Ishikawa) more than primary bovine fibroblasts (bovine FB).

endometrial cancer


Input: Expression of dnSTAT2 suppressed cell growth inhibition with a pharmacologically achievable concentration (100 IU/ml) of IFN-alpha in the IFN-alpha-sensitive skin squamous cell carcinoma cell line SRB12-p9.

IFN-alpha

skin squamous cell carcinoma


Input: Oral feeding of GTP as the sole source of drinking fluid to TRAMP mice results in significant inhibition of VEGF, MMP-2 and MMP-9.

TRAMP

drinking


Input: The purpose of the present study was to explore the expression changes of intermedin/adrenomedullin 2 (IMD/ADM2), a novel small molecular bioactive peptide, and its receptors, calcitonin receptor-like receptor (CRLR) and receptor activity modifying proteins (RAMP1, RAMP2, RAMP3) in the right ventricle of rats with chronic hypoxia-induced pulmonary hypertension.

pulmonary hypertension


Input: When the proband was evaluated at 7 years old for progressive visual loss, fundus exam was unremarkable (including no macular thickening clinically or by OCT) but ERG revealed cone-rod dysfunction with an electronegative waveform.

ERG

progressive visual loss


Input: Overall, our data suggest that miR-137 regulates growth of glioma cells and targets CSE1L, providing further understanding in the tumorigenesis of gliomas.

tumorigenesis


Input: In nodules and/or HCCs of Wistar and BN rats, low or no increases in c-myc, Cyclins D1, E, and A, and E2F1 expression, and Cyclin-CDKs complex formation were associated with p16 (INK4A) overexpression and pRb hypophosphorylation.

HCC

HCC


Input: In the present study, we analyzed differences in melanoma cell gene expression in two-and three-dimensional cultures as function of ALCAM-mediated adhesion.

ALCAM

adhesion


Input: Our study seeks to support or refute this association and to evaluate the genetic biomarkers p53, bcl-2, Ki-67, and neovascularity between familial and sporadic disease.

sporadic


Input: Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early onset parkinsonism.

sporadic


Input: The CRP abnormal group had more coronary artery calcification (calcium scores > 5, 16. 7 vs. 0%; P = 0. 036) and more cardiac diastolic dysfunction expressed as deceleration time > 240 ms (16. 7 vs. 0%; P = 0. 036).

CRP

coronary artery calcification


Input: Immunohistochemical tests for MUC2 and TFF2 were negative both in samples of Barret' s metaplasia and in SCC.

metaplasia


Input: This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population.

Marfan syndrome

Marfan syndrome


Input: One case could not be classified as either central or peripheral, showed EWS/FLI1 translocation.

EWS

translocation


Input: Inactivating mutations of the mineralocorticoid receptor (MR; NR3C2) are responsible for autosomal dominant and some sporadic cases of PHA1.

sporadic


Input: Importantly, the ratio of XIAP to XAF1 expression significantly (P = 0. 03) increased from non-neoplastic mucosa to adenocarcinomas and the increase was even higher in carcinomas of advanced stage (P = 0. 01).

non-neoplastic


Input: Finally, CRH, PLAC1, and selectin-P were plotted against quantitative distributions of blood pressure and proteinuria.

CRH

blood pressure


Input: In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities.

PDGFRA

abnormalities


Input: We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.

weight gain


Input: Activation of c-Fos expression by hypoxia promotes the formation of c-Jun/c-Fos heterodimers, which decrease the binding of c-Jun to the CYP2J2 upstream region, leading to gene down-regulation.

hypoxia


Input: We investigated two Caucasian families with a typical autosomal dominant trait of familial central diabetes insipidus, defined by deficiency of arginine vasopressin.

arginine vasopressin

central diabetes insipidus

arginine vasopressin

central diabetes insipidus


Input: For rectal CT (68 infections detected), sensitivities were 27% for culture, 63% for SDA, and 93% for AC2.

SDA

infections


Input: X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.

X-linked hydrocephalus

X-linked hydrocephalus


Input: The presence of human leukocyte antigen-DR4 was associated with the concurrence of immunological diseases in both autoimmune (62% vs. 33%; p = 0. 01) and viral hepatitis (75% vs. 29%; p = 0. 009).

viral hepatitis


Input: In 40 archival samples of SCC and in 21 samples of Barret' s metaplasia, expression of the three mucins and two TFF peptides (TFF1 and TFF2) was assessed by specific antibodies.

metaplasia


Input: Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.

EXTL

multiple exostoses


Input: The effect of INF-A on systolic blood pressure (SBP) was greater in FH-than in FH + but diastolic blood pressure (DBP) did not fall as quickly with nocturnal recumbency after INF-A in FH +.

DBP

systolic blood pressure


Input: The hypothesis that puerperal affective psychosis (PAP) is genetically related to manic-depressive disorder was tested by comparing the morbidity risks for puerperal and non-puerperal affective disorders in the relatives of 17 PAP subjects and 20 parous manic-depressives (PMD) with no history of puerperal illness.

PAP

affective disorders


Input: The tgAAVCF administration was well tolerated, without adverse respiratory events, and there was no evidence of enhanced inflammation in sinus histopathology or alterations in serum-neutralizing antibody titer to adeno-associated virus (AAV) capsid protein after vector administration.

AAV

inflammation


Input: We detected a novel point mutation in the apo E gene in a patient with LPG, and we characterized the mutant apo E.

apo E

LPG

apo E

LPG


Input: The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA).

vascular remodeling


Input: Therefore, DJ-1 is an important redox-reactive signaling intermediate controlling oxidative stress after ischemia, upon neuroinflammation, and during age-related neurodegenerative processes.

ischemia


Input: These observations support the view of HDAC2 as a promising new target for schizophrenia treatment.

schizophrenia

schizophrenia


Input: In this study, we provide evidence that treatment with phorbol esters leads to increased phosphorylation of in vivo (32) P-labeled CEACAM1-L in mouse CT51 carcinoma cells, in the mouse 1MEA 7R. 1 liver carcinoma cells and in 293 human embryonic kidney cells transfected with the Ceacam1-L cDNA.

carcinoma


Input: Seven patients with a sporadic or syndromic EAP (n = 4: von Hippel-Lindau syndrome and SDHB, SDHC, and SDHD gene mutations) underwent reoperation for a local-regional recurrence after a median time of 46 months (interquartile range [IQR], 16-100).

EAP

sporadic


Input: Our data demonstrate a regulatory role of NR4A1 in TGF-β signaling and fibrosis, providing the first proof of concept for targeting NR4A1 in fibrotic diseases.

fibrosis


Input: In order to gain insight into the mechanism of SMC3-mediated tumorigenesis a gene expression profiling was performed on human 293 cells line stably overexpressing SMC3.

tumorigenesis


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

major depression

major depression


Input: Genetic polymorphisms of CCND1 and PTEN in progression of esophageal squamous carcinoma.

esophageal


Input: We also investigated whether statin use, a potent modulator of inflammation, modifies CXCL5' s association with outcomes and characterized the in vitro effect of atorvastatin on endothelial ENA-78 production.

inflammation


Input: Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients.

cystinuria

cystinuria


Input: The patient presented with anemia, thrombocytopenia, and splenomegaly after 5 years of treatment with granulocyte colony-stimulating factor (G-CSF).

granulocyte colony-stimulating factor

splenomegaly


Input: When joint effects of endotoxin exposure and smoking were considered, the effect modification of TNF and LTA polymorphisms was prominent in never smokers.

LTA

smoking


Input: Moreover, a low expression level of NEFL mRNA indicated a poor five-year DFS for early-stage breast cancer patients.

NEFL

early-stage breast cancer


Input: One of these patients had a variant translocation with a more 5' breakpoint in NUP98.

translocation


Input: The results showed that inhibition of MTA1 mediated by Mta1-siRNA transfection decreased the cell invasion, migration and adhesion, and induced the increased cell anoikis, but no significant difference was found in proliferation of A2780 cancer cells.

adhesion


Input: The CDH1 3'-UTR + 54C/T SNP was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 280 cervical cancer patients and 330 healthy controls.

UTR

cervical cancer


Input: Safety, disease activity measures (daily diary reports of rash, joint pain and/or swelling, and fevers), health quality measures (Short Form 36 health survey questionnaire), and serum markers of inflammation (erythrocyte sedimentation rate [ESR], high-sensitivity C-reactive protein [hsCRP], serum amyloid A [SAA], and IL-6) were determined at 3, 6, 9, 12, and 24 months after initiation of rilonacept and were compared with baseline values.

C-reactive protein

rash


Input: TLR2 ligands activated NF-κB, PI3K/Akt, and different arms of MAPK signaling pathways and induced the production of pro-inflammatory cytokines in hepatocytes.

NF-κB

arms


Input: Ca (2 +) release from intracellular stores was significantly reduced in fibroblasts from FAD patients, compared to that found in cells from healthy individuals or patients affected by sporadic forms of Alzheimer' s Disease (AD).

FAD

sporadic


Input: ISC genes bmi-1 and olfm4 are expressed at subnormal levels in plt4/plt4 mice, and bmi-1 is induced with IR to half the level in mutant mice.

bmi


Input: Relationship between AZGP1 expression and clinicopathological features was analyzed by Chi-square test, Kaplan-Meier analysis and Cox proportional hazards regression model.

regression


Input: We have investigated the association of two candidate genes on chromosome 14, presenilin 1 (PS1) and alpha1-antichymotrypsin (ACT), with the risk of sporadic Alzheimer' s disease (AD) by using 427 AD cases and 250 controls.

ACT

sporadic


Input: The fellow eye, which had remained asymptomatic at 20/16 vision, had experienced mild paracentral macular RS evident by OCT criteria, which also resolved completely following oral CAI treatment.

OCT

asymptomatic


Input: Linkage analysis using both parametric and nonparametric approaches was conducted for 3 different diagnostic models: severe BP only (BPI); mood disorders (BPI, BPII and major depression); and psychosis (operationally defined by the occurrence of at least 1 episode of hallucinations and/or delusions).

BPI

major depression


Input: In rats with PAN nephropathy, administration of rhIGF-I increased IGF-I and GH receptor gene expression, without altering the steady state level of IGF-I receptor mRNA.

IGF-I

nephropathy

IGF-I

nephropathy


Input: Phosphomannopentaose sulfate (PI-88) suppresses angiogenesis by downregulating heparanase and vascular endothelial growth factor in an oxygen-induced retinal neovascularization animal model.

heparanase

retinal neovascularization


Input: The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.

SIDS

SIDS


Input: In addition, these studies demonstrate that the patterns of DNase I hypersensitivity and of methylation can remain intact during a 40-50-fold gene amplification, as observed for the c-myc gene in H82.

myc gene

hypersensitivity


Input: The Glu318Gly mutation was identified in six sporadic late-onset AD patients, four FAD patients (unrelated) and in nine control subjects.

FAD

sporadic


Input: Four different probes from the 1p36 region, the E2F2, NPPA, D1S160, and CDC2L1 loci were used for detection of 1p abnormalities.

NPPA

abnormalities


Input: They included ganglioside GD2, a marker of neuroectodermal tissues and tumors, and an acidic glycolipid detected by monoclonal antibody HNK-1 in the nervous system.

nervous system


Input: Three HLA-DP SNPs (rs4282438, rs3117027, and rs3077) were found to be significantly associated with risk of cervical cancer (rs4282438: odds ratio (OR) = 0. 72, 95% confidence interval (CI) = 0. 56-0. 93; rs3117027: OR = 1. 41, 95% CI = 1. 10-1. 83; and rs3077: OR = 1. 37, 95% CI = 1. 04-1. 80) among women infected with hrHPV.

HLA-DP

cervical cancer


Input: These dada indicated that oncolytic adenovirus to target both of TERT and RB pathways provided a safe and potent vector for the gene therapy of HCC.

HCC

adenovirus


Input: RESULTS: MR-1 mRNA and protein could be detected in gastric cancer tissues as well as in matched noncancerous tissues.

gastric cancer


Input: The transcription factor NF-kappaB was present in proliferating endometrium and in endometrial hyperplasia, but its expression was lower in carcinoma.

NF-kappaB

endometrial hyperplasia


Input: RESULTS: IMQ induced p53 mRNA expression and protein accumulation, increased Ser15 phosphorylation, promoted nuclear translocation and up-regulated its target genes in skin cancer cells in a TLR7/8-independent manner.

skin cancer


Input: Sensory CGRP depletion by capsaicin exacerbated hypoxia-induced pulmonary hypertension in rats, as shown by an increase in right ventricle systolic pressure, mean pulmonary artery pressure and vascular hypertrophy, accompanied with decreased p27 expression and increased expression of phosphorylated ERK1/2, c-fos and c-myc.

pulmonary hypertension


Input: Overexpression of OCRL1 inhibited interleukin-1β-induced Rac1 activity, chondrocyte hypertrophy, and expression of hypertrophy-related genes.

hypertrophy


Input: Long Noncoding RNA (lncRNA) MIR22HG Suppresses Gastric Cancer Progression through Attenuating NOTCH2 Signaling.

Gastric Cancer

Gastric Cancer


Input: The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date.

JPS

JPS


Input: Furthermore, inhibition of the transporters and mTORC1 significantly blocks YAP1/TAZ-mediated tumorigenesis in the liver.

TAZ

tumorigenesis


Input: Our findings confirm the role of EGFR in AngII mediated cardiac hypertrophy, and highlight that EGFR is not involved in vivo in the damaging effects of aldosterone on cardiac function and remodelling.

EGFR

cardiac hypertrophy


Input: Craniofrontonasal syndrome (CFNS; MIM #304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture.

MIM

bifid nose


Input: Six single-nucleotide polymorphisms (SNPs) that tagged the linkage disequilibrium blocks on the entire SFTPD gene were genotyped; the associations of the genotypes with COPD, pulmonary function, percentage of the low-attenuation area (LAA%), and percentage of the airway wall area (WA%) were determined in population A.

SFTPD gene

pulmonary function


Input: Indeed, COP1 deficiency in mouse prostate elevated ETV1 and produced increased cell proliferation, hyperplasia, and early prostate intraepithelial neoplasia.

intraepithelial neoplasia


Input: In the current study, simulating ischemia (sI) in a primary cardiac myocyte model system caused a reduction in the level of ER-associated ATF6 with a coordinate increase of ATF6 in nuclear fractions.

ischemia


Input: Furthermore, cooperation between OTT-MAL and an activating mutation of the thrombopoietin receptor myeloproliferative leukemia virus oncogene (MPL) efficiently induced a short-latency AMKL that recapitulated all the features of human AMKL, including megakaryoblast hyperproliferation and maturation block, thrombocytopenia, organomegaly, and extensive fibrosis.

MPL

fibrosis


Input: We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked).

alpha-thalassemia


Input: Conversely, adenovirally-mediated overexpression of NAIP or the X-linked IAP called XIAP reduces the loss of CA1 hippocampal neurons following transient forebrain ischemia.

NAIP

ischemia


Input: Paternal night-time systolic blood pressure, night to day systolic blood pressure ratio and ACR were correlated with an index of susceptibility to albuminuria (r = 0. 25, P = 0. 042, n = 69 and r = 0. 28, P = 0. 022, n = 0. 67 and r = 0. 24, P = 0. 029, n = 0. 85, respectively).

ACR

systolic blood pressure


Input: In this study, we investigated the effects of manipulation of the HO-1 system in an in vivo model of focal ischemia-reperfusion (FIR) in the rat heart.

FIR

ischemia


Input: Human gastrin-releasing peptide receptor mediates sustained CREB phosphorylation and transactivation in HuTu 80 duodenal cancer cells.

CREB

duodenal cancer


Input: The vector expressing FGF-2 and BDNF decreased both mossy fiber sprouting and the frequency and severity of spontaneous seizures.

seizures

seizures


Input: C127, a murine mammary tumor-derived cell line, is capable of lipidating and secreting apolipoprotein B-41 (apoB-41) in the apparent absence of microsomal triglyceride transfer protein (MTP).

MTP

mammary tumor


Input: Fifty percent of sporadic tumours compared to 78% of BRCA2 linked tumours exhibit LOH at one or more markers at 8p showing that chromosome 8p alterations in breast tumours from BRCA2 999del5 carriers are more pronounced than in sporadic breast tumours.

sporadic


Input: In subcutaneous adipose tissue, DAGL-α mRNA was upregulated and fatty acid amide hydrolase (FAAH) and monoacylglycerol lipase (MAGL) mRNAs were down-regulated in obese subjects, but the diets had no influence.

DAGL-α

obese


Input: The facilitation of these deleterious events resulted in exacerbated β-amyloid accumulation, plaque pathology and CREB dysfunction in 5XFAD mice with GCN2 mutations.

CREB

amyloid


Input: We report the identification of a UV (S) S patient (UV (S) S1VI) with a novel mutation in the CSA gene (p. trp361cys) that confers hypersensitivity to UV light, but not to inducers of oxidative damage that are notably cytotoxic in cells from CS patients.

CSA

UV (S) S

CSA

UV (S) S


Input: The reduction in diastolic blood pressure was also significantly greater in DD hypertensives compared with II or ID (8. 9 +/-6 vs. 5. 5 +/-3. 4 or 5. 8 +/-4, respectively; ANOVA, p < 0. 05).

ANOVA

diastolic blood pressure


Input: Ewing' s sarcoma, a highly malignant neoplasm, is characterized by an 11; 22 translocation [t (11; 22) (q24; q12)], resulting in the fusion of genes FLII and EWS.

EWS

translocation


Input: Importantly, hypoxia regulated expression of alarmin receptors such as the receptor for advanced glycation end products (RAGE) and the purinoreceptor (P2X7R), and up-regulated inflammatory response (IR) genes such as the inducible enzymes nitric oxide synthase (NOS2), cycloxygenase (COX2), and the acute-phase protein pentraxin-3 (PTX3).

RAGE

hypoxia


Input: Mutation analysis in 57 unrelated patients with MPS II (Hunter' s disease).

MPS II

Hunter' s disease

MPS II

Hunter' s disease


Input: ETRA autoantibodies aggravated right ventricular hypertrophy and vascular remodeling in vivo.

ETRA

vascular remodeling


Input: BW373U86, a delta-opioid receptor agonist, reverses bradykinin-induced thermal allodynia in rhesus monkeys.

bradykinin

thermal allodynia

bradykinin

thermal allodynia


Input: Studies on loss of function and overexpression implicate PINK1 in apoptosis, abnormal mitochondrial morphology, impaired dopamine release and motor deficits.

abnormal mitochondrial morphology


Input: Additionally, flagellin-mediated induction of other inflammation markers, including il1b, il8, and cxcl-C1c, was reduced upon Tlr5 knockdown as well as expression of irak3, a putative negative TLR pathway regulator.

inflammation


Input: In this cohort of biopsied CHB patients, PNPLA3 was independently associated with steatosis, steatohepatitis, lobular inflammation and iron depositions, but not with advanced fibrosis, HCC development or all-cause mortality.

HCC

fibrosis


Input: Nox1 and Nox4 mRNA and protein levels also were markedly elevated in a panel of primary human colon cancers, compared with their matched controls.

colon cancers

colon cancers


Input: Together, this study proposes the existence of an aberrant IL-6/STAT3/Fra-1 signaling axis leading to CRC aggressiveness through EMT induction, which suggests novel therapeutic opportunities for the malignant disease.

aggressiveness


Input: A number of genetic and epigenetic alterations have been identified in bladder tumorigenesis, including activating mutations in fibroblast growth factor receptor 3 (FGFR3) and RAS family genes.

tumorigenesis


Input: The beta-endoglucuronidase heparanase plays an important role in tumor invasion, a process that is significantly enhanced by hypoxia.

heparanase

hypoxia


Input: As matrix metalloproteinases (MMP) play a central role in the regulation of the ECM, an increased expression of these enzymes might lead to the endothelial damage in spontaneous cervical artery dissection (sCAD).

ECM

artery dissection


Input: We reported previously that COX2 expression in MCF10A breast epithelial cells of basal subtype induces genomic instability.

genomic instability


Input: We further demonstrate that CD40 triggering induced both DNA DSBs as well as newly acquired karyotypic abnormalities in MM cell lines.

abnormalities


Input: We observed that the frequency of CCR7-expressing TH1/TH17 effector lymphocytes increased during active disease in TNF (Δ) (ARE) mice and that ΔARE/CCR7 (-/-) mice developed exacerbated ileitis and multiorgan inflammation, with a marked polarization and ileal retention of TH1 effector CD4 (+) T cells.

inflammation


Input: Phenotypic linkage between single-nucleotide polymorphisms of beta3-adrenergic receptor gene and NADH dehydrogenase subunit-2 gene, with special reference to eating behavior.

eating behavior


Input: This study investigated whether variations in the IL19, IL20 and IL24 genes that have previously been associated with plaque-type psoriasis may also play a role in palmoplantar pustulosis (PPP).

plaque


Input: Previously, we have shown in a small number of AD and control patients that HNE pyrrole adduct antiserum is immunoreactive with neurofibrillary tangles (NFT), and that this reactivity was significantly associated with inheritance of APOE4.

HNE

neurofibrillary tangles


Input: It is known that hypoxic conditions in tumorous tissues induce the formation of reactive oxygen species (ROS), and ROS have been identified as important factor in the regulation of Ets-1 expression in tumor cells.

hypoxic


Input: The relationship between weight reduction after sibutramine treatment and a single nucleotide polymorphism, rs5443 (C825T), in the guanine nucleotide binding protein beta polypeptide 3 (GNB3) gene is currently inconsistent.

weight reduction


Input: The current study tested whether two important forms of disinhibition in adolescence, impulsivity and sensation seeking, mediated the effects of GABRA2 on hyperactive-inattentive symptoms, conduct problems, and alcohol problems.

inattentive


Input: Telephone interviews were conducted with mothers of 662 CLP and CP cases, 207 conotruncal defect cases, 165 limb deficiency cases, and 734 nonmalformed controls.

CLP

conotruncal defect


Input: In animal models of stroke, sulfonylurea receptor 1 (Sur1), a member of the adenosine triphosphate binding cassette transporter gene family, is transcriptionally upregulated in neural and vascular cells in which it plays a leading role in edema formation and necrotic cell death.

edema


Input: Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer.

breast cancer

breast cancer


Input: IHC studies on human kidneys showed that SCAI expression is reduced during fibrosis.

SCAI

fibrosis


Input: Changes in CRH and ACTH synthesis during experimental and human septic shock.

ACTH

septic shock


Input: In this study we investigated the association between these polymorphisms and time to recurrence (TTR) and overall survival (OS) in soft-tissue sarcoma (STS) patients after curative surgery.

TTR

sarcoma


Input: Analysis of gene expression profiles revealed an abnormal expression of genes involved in the metabolism of lipids and carbohydrates in MAT1A knockout mice, a situation that is reminiscent of that found in diabetes, obesity, and other conditions associated with nonalcoholic steatohepatitis.

obesity


Input: Anti-inflammation treatment restored p21 expression, delayed tumorigenesis, and increased survival of Tgfbr2 (fspKO) mice.

inflammation


Input: Through GWAS, we identified common variants in APOA5, GCKR, LPL and APOB associated with HTG.

LPL

HTG

LPL

HTG


Input: A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

beta-galactosidase

infantile GM1-gangliosidosis

beta-galactosidase

infantile GM1-gangliosidosis


Input: Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations.

intellectual disability

intellectual disability


Input: In addition, CHK overexpression in neuroblastoma and astrocytoma cells inhibited their growth and proliferation.

CHK

astrocytoma


Input: This study reveals the potential role of PTPRO methylation and silencing in CLL tumorigenesis and also provides a novel molecular target in the epigenetic therapy.

PTPRO

tumorigenesis


Input: Our results indicate that Notch3 or GOM accumulation are unlikely to be the prerequisites for the induction of VSMC degeneration and suggest that degeneration of VSMCs may rather be triggered by the disruption of their normal anchorage, based on the important role of adhesion for cell survival.

adhesion


Input: Samples immunoprecipitated for Sp1 and probed for subsequent phosphorylation showed a significant increase in nuclear alpha-p-threonine-modified Sp1 at 2 and 6 hours after sepsis (P <. 001 vs saline).

sepsis


Input: Participants were classified with ISH (n = 87, systolic blood pressure (SBP) > or = 160 mm Hg and diastolic blood pressure (DBP) < or = 90 mm Hg) or normotension (n = 124, SBP < 140 mm Hg and DBP < 90 mm Hg with no family history of hypertension).

DBP

systolic blood pressure


Input: Elite suppressors (ES) are untreated human immunodeficiency virus type 1 (HIV-1)-infected individuals who maintain normal CD4 (+) T-cell counts and control viremia to levels that are below the limit of detection of current assays.

viremia


Input: CBFA2T3, CTCF and WWOX) but no inactivating mutations could be identified in these genes and they thus fail to fit the classic two-hit model for a TSG.

TSG

hit


Input: Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

muscle-eye-brain disease


Input: By immunohistochemistry, overexpression of UHRF1 protein was found in 78. 3% (47/60) of the LSCC tissues, while there was negative expression in adjacent normal larynx tissues.

larynx


Input: RRM1, the regulatory subunit of ribonucleotide reductase, is involved in carcinogenesis, tumor progression, and the response of non-small-cell lung cancer to treatment.

tumor progression


Input: In contrast, data from MIB 1 immunostaining showed that < 0. 3% of leiomyoma cells were proliferating.

MIB

leiomyoma


Input: In humans, several single nucleotide polymorphisms in the IL-6 gene promoter are known, one of which (174 C) is associated with reduced IL-6 transcription as well as decreased basal metabolic rate and insulin sensitivity in healthy male subjects.

insulin sensitivity


Input: Hepatic insulin sensitivity was enhanced in PGC-1-deficient mice, reflecting in part the reduced expression of the mammalian tribbles homolog TRB-3, a fasting-inducible inhibitor of the serine-threonine kinase Akt/PKB (ref.

TRB

insulin sensitivity


Input: These results do not support a relationship between the OMGP gene and the learning disability phenotype observed in NF1.

OMGP

learning disability


Input: We examine three CMT1C-associated SIMPLE mutations and show that they do not affect the interaction with NEDD4 or TSG101, nor do they lead to altered subcellular localization.

SIMPLE

SIMPLE


Input: In addition, equivalent amounts of immunoreactive ADD1/SREBP1 were found in nuclear extracts from lean and obese rat fat cells.

obese


Input: Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia.

bipolar disorder

bipolar disorder


Input: In this study, association analyses were re-examined between the polymorphisms of the promoter region of the CCKAR gene and patients with alcohol withdrawal symptoms, in addition to patients with alcoholic liver injury.

CCKAR gene

withdrawal symptoms


Input: We investigated the association of severe malaria with 11 haplotype tagging-polymorphisms for 11 MHC class III candidate genes, including TNF, lymphotoxin alpha (LTA), allograft inflammatory factor 1 (AIF1), and HLA-B associated transcript 2 (BAT2).

HLA-B

severe malaria


Input: This study investigated whether down-regulation of MTA1 expression by RNAi in A2780 ovarian cancer cells could affect proliferation, anoikis, migration, invasion and adhesion of the cells and to research the potential for MTA1 gene therapy of ovarian cancer.

MTA1 gene

adhesion


Input: We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known.

metaphyseal anadysplasia

metaphyseal anadysplasia


Input: In contrast, serum SHBG values were negatively associated with body mass index (BMI) and homeostasis model assessment of insulin resistance in the PCOS group (B =-0. 285 and-0. 264, respectively; P < 0. 01).

SHBG

insulin resistance


Input: The histology of breast cancers in predisposed women differs from that in sporadic cases, and there are differences between breast cancers in carriers of BRCA1 and BRCA2 mutations.

sporadic


Input: γδ T-cell large granular lymphocytic (T-LGL) leukemia of the CD4-/CD8-subtype is rare, and data are limited in the literature.

leukemia


Input: FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders.

cognitive deficits

cognitive deficits


Input: Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD).

transmembrane protein 2

choreoathetosis


Input: We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the-403 RANTES,-28 RANTES, and-1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the-444 LTC4S SNP.

RANTES

atopy


Input: Therefore, this postmortem study identifies GC1, GRINA, and NRP-1 as novel factors associated with MDD; however, future studies will be needed to address the significance of these genes in the pathophysiology of depression and antidepressant activity.

MDD

MDD


Input: We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.

insulin receptor

RMS

insulin receptor

RMS


Input: Significant obesity associations (p < 0. 1 two-tailed, concordant direction with previous reports) were replicated for 11 SNPs from the following ten loci in Japanese participants: SEC16B, TMEM18, GNPDA2, BDNF, MTCH2, BCDIN3D-FAIM2, SH2B1-ATP2A1, FTO, MC4R and KCTD15.

obesity


Input: We tested whether methylation profiles generated by real-time methylation-specific PCR (MSP) can be useful in differentiating benign, reactive mesothelial cell proliferation (RM) from malignant mesothelioma (MM).

MSP

mesothelioma


Input: SPARC levels are correlated significantly with inflammation and may also be correlated with dyslipidemia and represent an independent determinant of insulin resistance in late pregnancy, indicating a potential role of SPARC in the pathophysiology of GDM.

SPARC

insulin resistance


Input: E2 induced reporter gene activity in MDA-MB-231 breast cancer cells transiently cotransfected with pF1 and wild-type ER or variant ER in which the DNA-binding domain was deleted (HE11); plasmids expressing N-terminal or C-terminal domains of the ER containing activator function-1 or-2, respectively, were inactive in these assays.

breast cancer


Input: Within the last two years, genome-wide association (GWA) analyses have revealed a number of novel low-risk susceptibility variants for Parkinson' s disease, among them HLA-DRB5, BST1, ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R) and have confirmed LINGO1 as risk factor for essential tremor.

essential tremor


Input: Opposite results were observed in MDA-MB-231 cells (highly invasive breast carcinoma), which have high NF-kappaB activity, further inducible by HGF, because HIF-1alpha mRNA expression and HIF-1 transactivating capacity were HGF-insensitive while the alpha subunit seemed to be degraded after HGF.

NF-kappaB

invasive breast carcinoma


Input: Using this model, we demonstrated that in the context of infection with influenza, NECs obtained from smokers create an overall cytokine microenvironment that suppresses the interferon-mediated Th1 response and enhances the TSLP-TARC-mediated Th2 response, with the potential to modify the responses of DCs.

TARC

influenza


Input: YAP/TAZ are nuclear effectors of the Hippo pathway regulating organ growth and tumorigenesis.

TAZ

tumorigenesis


Input: The results showed that ten sporadic tumours, three hereditary tumours (including C-cell hyperplasia), and one lymph gland metastasis displayed TFF1 immunoreactivity.

sporadic


Input: miR-21 also targets PDCD4 and Sprouty 1 (Spry1), and the combined downregulation of these proteins with PTEN is sufficient to confer resistance to hypoxia.

hypoxia


Input: Here, we describe two missense mutations in hMLH1 exon 16 associated with colorectal cancer.

colorectal cancer

colorectal cancer


Input: The chromosome translocation t (7; 11) (p15; p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9.

NUP98 gene

chromosome translocation


Input: To test the hypothesis that structural or functional abnormalities of the hemidesmosomes might contribute to the morphological appearance and biology of UDCs, we studied the expression of hemidesmosomal proteins in AMC-HN-9.

AMC

abnormalities


Input: The correlation between ANXA10 expression and the progression of pancreatic cancer remains unknown.

pancreatic cancer

pancreatic cancer


Input: The urinary excretion of 8-iso-PGF (2alpha) among non-diabetic non-smoking LL homozygotes was 3995. 5 +/-3352. 8 ng/24-hour and among M-allele carriers 1689. 8 +/-1051. 3 ng/24-hour (p = 0. 017, ANCOVA; gender, hypertension, total cholesterol, triglycerides and LDL cholesterol as covariates).

PGF

smoking


Input: Under basal conditions, rats exposed to perinatal malnutrition showed reduced body weight, enhanced mineralocorticoid receptor (MR) mRNA levels in CA2 and CA3 hippocampal areas, but decreased glucocorticoid receptor (GR) mRNA levels in CA1, CA3 and dentate gyrus (DG) areas.

malnutrition


Input: The data suggest that the mechanism of menadione-induced JNK activation involves the production of reactive oxygen species, likely superoxide anion, and intracellular GSH levels play an important role in preventing GSTA1-JNK complex dissociation, subsequent JNK activation and induction of cytotoxicity.

dissociation


Input: Changes were detected in the expression of several proteins including the GluN2A subunit, unco-ordinated-5H3 (unc5H3), doublecortin, cyclo-oxygenase, sonic hedgehog and Disrupted in schizophrenia-1 (DISC1), although no differences in immunoreactive cell numbers were observed.

sonic hedgehog

schizophrenia


Input: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

WASP

X-linked thrombocytopenia

WASP

X-linked thrombocytopenia


Input: A gene-environment interaction was suggested, with a combination of the NAT2 slow acetylator genotype and smoking conferring significantly higher risk (OR = 6. 44, 95% CI = 3. 07-13. 52; attributable proportion due to interaction = 0. 50, 95% CI = 0. 12-0. 88), compared with the NAT2 rapid acetylator genotype and no history of smoking.

smoking


Input: After the age of 15 years, individuals should be referred to: a) annual ophthalmoscopy in dilation, b) annual neurological examination, c) every two years: MRIs of the CNS, including the inner ear, d) annual ultrasound/MRI of the abdomen, e) annual plasma-metanephrine, plasma-normetanephrine, and plasma-chromogranin A tests, and f) annual hearing examination at a department of audiology.

chromogranin A

dilation


Input: Expression studies of the wild type and mutant forms of UCP2 should clarify the functional consequences these polymorphisms may have on energy metabolism and body weight regulation.

body weight


Input: The untreated CKD rats exhibited azotemia, hypertension, hypertriglyceridemia, proteinuria, glomerulosclerosis, tubulointerstitial damage, upregulation of MCP-1, plasminogen activator inhibitor-1 (PAI-1), transforming growth factor (TGF)-beta, cyclooxygenase (COX)-1, COX-2, and NAD (P) H oxidase (NOX-4, gp91 (phox), p47 (phox) and p22 (phox) subunits) and activation of NF-kappaB (IkappaB phosphorylation).

azotemia


Input: Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3.

ACS

ACS


Input: If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.

atopy


Input: In the current WHO classification of myeloid disorders, chronic neutrophilic leukaemia (CNL) is recognized as a myeloproliferative neoplasm characterized by sustained neutrophilic leukocytosis, hepatosplenomegaly and bone marrow granulocytic hyperplasia without evidence of dysplasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1.

PDGFRB

granulocytic hyperplasia


Input: A parallel orientation was most frequently encountered in BRCA1-associated lesions (46. 7%) versus sporadic (33. 8%) and BRCA2 (33. 3%), whereas posterior acoustic shadowing was least frequently seen in BRCA1-associated lesions (13. 3%) versus BRCA2 (16. 7%) and sporadic (31. 1%).

sporadic


Input: This study was performed to examine whether asymptomatic carriers of a mutated PPH gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise.

PPH

asymptomatic


Input: In human brain of depression patients, we then identified the potential genes, amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), well known AD modulators by integrating datasets from neuropathology, microarray, and RNA seq.

depression


Input: The aim of this study was to evaluate the hypothesis that HGF/c-Met plays a biological role in the invasive growth of adenoid cystic carcinoma (ACC).

HGF

adenoid cystic carcinoma


Input: Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

phenylalanine hydroxylase

Maternal phenylketonuria

phenylalanine hydroxylase

Maternal phenylketonuria


Input: To analyze the role of OPN in immune system and autoimmune diseases, we have generated two kinds of transgenic mice: one carries the immunoglobulin (Ig) enhancer/SV40 promoter and the other carries the cytomegalovirus enhancer/chicken beta-actin (CAG) promoter.

OPN

cytomegalovirus


Input: Radical prostatectomy (RP) specimens from 74 patients with clinically localized PC (median follow-up 51 months, range 15-152), 44 benign prostatic hypertrophy (BPH) lesions, and 4 normal prostates (NPs) were assessed for BMP2, Smad8, and Smad4 expression using immunohistochemistry.

benign prostatic hypertrophy


Input: In this study, molecular defects in the sulphamidase gene of MPS-IIIA patients were investigated in a group of 10 patients of Australian and American origin.

sulphamidase

MPS-IIIA

sulphamidase

MPS-IIIA


Input: p-EGFR and p-MAPK were found in all chloracne tissues, whereas no expression was found in the controls.

EGFR

chloracne

EGFR

chloracne


Input: Up-regulation of Akt, as well as its upstream regulator phosphatidylinositol 3-kinase, has been found in many tumors, and the negative regulator of this pathway, mutated in multiple advanced cancers suppressor (MMAC; also known as phosphatase and tensin homologue deleted on chromosome 10), is a tumor suppressor gene.

tensin

cancers


Input: Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene.

SMARCAL1 gene

segmental glomerulosclerosis


Input: Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.

familial HDL deficiency

familial HDL deficiency


Input: The first pathological change observed in the PPT1 (-/-) brain is regional areas of glial fibrillary acidic protein (GFAP) upregulation, which predicts future areas of neurodegeneration.

GFAP

neurodegeneration


Input: In a prion model of chronic neurodegeneration and inflammation, CX3CL1 immunoreactivity is upregulated in astrocytes and CX3CR1 expression is elevated on microglia.

neurodegeneration


Input: Therefore, our results indicated that therapeutic approaches that neutralize CXCL4, a newly identified target of fibrosis, may represent a novel strategy for preventing and treating CLAD after liver transplantation.

fibrosis


Input: The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens.

retinitis punctata albescens

retinitis punctata albescens


Input: Using ChIP-Seq, we find that in human and murine T-lymphoblastic leukemia (TLL) genomes Notch1 binds preferentially to promoters, to RBPJ binding sites, and near imputed ZNF143, ETS, and RUNX sites.

TLL

lymphoblastic leukemia


Input: We tested 392 patients with schizophrenia or schizoaffective disorder and 226 healthy normal volunteers for association with NEUROG1.

schizoaffective disorder

schizoaffective disorder


Input: Plasma concentrations of RANTES at day 0 after onset were significantly elevated in stroke patients, compared with controls, and were highly correlated with those of BDNF, EGF, and VEGF.

RANTES

stroke


Input: Analysis by logistic regression including gender, IL-1alpha [+ 4845C > T], IL-1beta [-3954C > T], IL-6 [-174G > C] genotypes, the composite IL-1 genotype, the combination of the composite IL-1 genotype and the IL-6-174G > C genotype and adjusting for smoking did not result in any statistically significant difference.

smoking


Input: Effect of antisense MBD1 gene eukaryotic expression plasmid on expression of MBD1 gene in human biliary tract carcinoma cells.

MBD1 gene

biliary tract carcinoma


Input: Screening of mutations within PDE6B gene was performed using polymerase chain reaction-heteroduplex-single strand conformation polymorphism (PCR-SSCP) and DNA sequence in 35 autosomal recessive (AR) RP and 55 sporadic RP cases.

PDE6B gene

sporadic


Input: Because of this, and the observation that CHK2 mutations are inherited in some Li-Fraumeni cancer syndrome families, we decided to examine the role of CHK2 mutations in sporadic cancers.

sporadic


Input: All affected individuals first presented with CPEO and exercise intolerance in their twenties, and these were followed by muscle weakness, dysphagia, and spino-cerebellar signs with impaired gait coordination, dysmetria, and dysarthria.

spino

muscle weakness


Input: Flavin-containing mono-oxygenase 3 (FMO3) catalyses TMA oxidation and mutations in the FMO3 gene have recently been shown to underlie trimethylaminuria/fish odour syndrome.

FMO3 gene

mono


Input: Further, treatment of Nf1 OPG mice with AMD3100, a CXCR4 antagonist, did not attenuate glioma growth.

OPG

glioma


Input: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: This study supports the fact that " TMCO1-defect syndrome, " initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum.

CFT

CFT


Input: The recent identification of the EWS and FLI-1 genes flanking the translocation break point has enabled reverse transcriptase-polymerase chain reaction (RT-PCR) to be used to detect the putative chimeric transcription factor mRNA produced by the fusion gene.

EWS

translocation


Input: Mutations of the StAR gene lead to impaired translocation of cholesterol from the outer mitochondrial membrane to the inner mitochondria, a rate limiting step in steroidogenesis in the adrenals and the gonads.

StAR gene

translocation


Input: We examined the expression of eotaxin, eotaxin-2, RANTES, monocyte chemoattractant protein-3 (MCP-3), MCP-4, and CCR3 in the bronchial mucosa from atopic (AA) and nonatopic (intrinsic; NAA) asthmatics and compared our findings with atopic (AC) and nonatopic nonasthmatic controls (NC).

RANTES

atopic


Input: We hypothesize that selective adenovirus-mediated transgene expression could be achieved through the use of the secretory leukoprotease inhibitor (SLPI) promoter in the context of ovarian cancer.

SLPI

adenovirus


Input: Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.

RHOA

adhesion


Input: Mutation analysis of the guanylate cyclase 2D gene (GUCY2D, MIM 600179, previously called RETGC1), located at 17p12-p13, showed a missense mutation (R838C) in exon 13, that co-segregated with the eye disease in the family.

eye disease


Input: In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 and CCL11 rs4795895 were associated with ischemic stroke.

ischemic stroke


Input: Treatment of MM cells with egr-1 short interfering RNA suppressed proliferation, which was overridden by exogenously added recombinant FGF-1 and, in particular, FGF-2.

MM

MM


Input: We have demonstrated that the addition of recombinant adenovirus-expressing human Flt3 ligand (Adeno-Flt3L) after radio-inducible suicide gene therapy induced a Th1-biased, immune response and enhanced tumor control in an ectopic model of HCC.

HCC

adenovirus


Input: Chromosomal aberrations of HCC obtained from 20 patients with MS (HCC/MS) were studied by comparative genomic hybridisation and compared with HCC related to hepatitis C virus (HCV) infection (HCC/HCV, n = 10) and, within the group of HCC with MS, according to the condition of the background liver (presence or absence of significant fibrosis).

HCC

fibrosis


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

microsatellite instability


Input: The results of this study contribute to the delineation of the molecular pathology of the AIRE gene and enhance our ability to perform a molecular diagnosis in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

AIRE

autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

AIRE

autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy


Input: Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.

osteoporosis

osteoporosis


Input: Of the variants examined for association, none exhibited statistically significant association with ACR after accounting for the effects of covariates such as age, sex, diabetes, duration of diabetes, systolic blood pressure, and antihypertensive medications.

ACR

systolic blood pressure


Input: Furthermore, IL-6, but not IL-11 showed a significant correlation with patient' s survival time, suggesting that tissue and plasma concentration of IL-6 might be a marker of tumor aggressiveness with prognostic value.

aggressiveness


Input: Two recent candidate genes, ErbB3 and Fgfr1, are growth factors whose mRNA levels have been found to be altered in the leukocytes of patients that are affected by bipolar disorder in a depressive state.

depressive state

depressive state


Input: Here, we investigated a mechanism that may regulate the expression of Ets-1 in vascular endothelial growth factor (VEGF)-and hypoxia-induced retinal neovascularization and that may have potential to inhibit ocular neovascular diseases.

retinal neovascularization


Input: Microarray studies have shown the expression of lysyl oxidase (LOX) to be elevated in hypoxic human tumour cells.

LOX

hypoxic


Input: In addition, plasma progranulin levels are significantly decreased in BD [mean & #177; standard deviation (SD) 112 & #177; 35 versus 183 & #177; 93 ng/mL in controls; p & lt; 0. 001].

progranulin

BD

progranulin

BD


Input: Post-relapse survival was worse for BRCA1-and better for BRCA2-associated patients as compared to sporadic patients, but differences disappeared after adjustment for ER-status, site of first DM and DDFI.

sporadic


Input: Here we illustrate that activation of FPRL-1 in human U87 astrocytoma or Chinese hamster ovary cells stably expressing the receptor resulted in the phosphorylations of inhibitor-kappaB kinase (IKK), an onset kinase for NFkappaB signaling cascade.

astrocytoma


Input: Caucasians were genotyped for 109 haplotype-tagging single-nucleotide polymorphisms (SNP) in CYP17A1, ESR1, CYP19A1, and HSD3B1, and their prognostic significance on disease progression was assessed using Kaplan-Meier survival curves and Cox regression models.

regression