Input: The aim of this study was to evaluate the relationship between smoking, alcohol drinking and genetic polymorphism of the growth hormone 1 gene (GH1) T1663A with reference to colorectal cancer.

smoking


Input: Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.

CBL

uniparental disomy


Input: Here, we present a patient with a WASP mutation who suffered from severe atopic eczema, mild thrombocytopenia and only a slightly increased frequency of infections, who then developed IgA nephropathy and consequently underwent renal transplantation, which was successful.

WASP

infections


Input: A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

Intellectual Disability

Intellectual Disability


Input: A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

renal-coloboma syndrome

renal-coloboma syndrome


Input: Finally, although hypoxia enhances CXCR4 and CXCR7 promoter activity and receptor expression in RD cells, it inhibits CXCR7 expression in RD/PAX3-FKHR cells.

hypoxia


Input: Renal sodium retention in liver cirrhosis, nephrotic syndrome and hypoxia have been linked to 11beta-HSD2 reduced activity.

nephrotic syndrome

nephrotic syndrome


Input: Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress.

CHAT

infections


Input: AKT-glycogen synthase kinase 3beta (GSK3beta) signaling is a target of lithium and has been implicated in the pathogenesis of mood disorders and schizophrenia.

AKT

mood disorders

AKT

mood disorders


Input: Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA).

CMP

skeletal myopathy


Input: These have classically been with DNA damaging chemotherapy but the recently developed small molecule inhibitors of DNA repair enzymes such as Poly-ADP polymerases PARP-1 and PARP-2 have been shown to target tumour deficiencies in DNA repair as well sensitizing to DNA damaging therapeutics such as radiation and chemotherapy.

ADP

tumour


Input: The frequency of allele losses on distal 17p (16%) is low in these familial tumours compared with the previously reported incidence in sporadic tumours (> 50%), whereas the frequency of losses at the p53 locus and on 17q was similar to sporadic tumours (5%-40%).

sporadic


Input: To investigate whether kinase insert domain-containing receptor (KDR) gene polymorphisms are risk factors for recurrent spontaneous abortion (RSA) in Korean women.

KDR

recurrent spontaneous abortion


Input: However, whether PAR-1 also plays a role in the development of skin fibrosis remains elusive.

fibrosis


Input: HIF2A mRNA was induced by hypoxia in neuroblastoma cells isolated from metastatic patient-derived tumor xenografts, where HIF2A levels could be reduced by treatment with PI3K and mTORC2 inhibitors.

hypoxia


Input: In vitro studies showed that cell growth, as measured by the thymidine incorporation assay, was inhibited in the C4-2, PC-3, and DU145 cells infected with wild-type p53 adenovirus in comparison to control viruses.

adenovirus


Input: Accordingly, TRPV6 represents a prognostic marker and, as a plasma membrane Ca2 + channel, a promising target for new therapeutic strategies to treat advanced prostate cancer.

prostate cancer


Input: The FIP1L1-PDGFRA fusion gene is the most frequent genetic aberration in myeloid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.

PDGFRA

abnormalities


Input: The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured.

antithrombin III

fibrinogen


Input: Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta.

dentin dysplasia


Input: In contrast, signaling by constitutively active PTH/PTHrP receptor (caPPR), whose expression was regulated by the osteoblast-specific Col1a1 promoter (Col1a1-caPPR), suppressed unloading-induced reduction in bone mass in these transgenic mice.

PTH/PTHrP receptor

bone mass


Input: This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3.

PPD

PPD


Input: In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.

filgrastim

septicemia

filgrastim

septicemia


Input: B27 transgenic rats develop a spontaneous disease resembling the human spondyloarthropathies that includes arthritis and colitis.

colitis


Input: The signaling pathway through which knockdown of CNDP2 inhibited cell proliferation and tumorigenesis involved in EGFR, cyclin B1 and cyclin E. Knockdown of CNDP2 can inhibit the proliferation of colon cancer in vitro and retarded carcinogenesis in vivo.

cyclin E

colon cancer


Input: This report underscores the importance of CCDC11 in laterality determination.

laterality


Input: Collective results imply a unified molecular mechanism for repair-independent functions of FA, RAD51, and BRCA1/2 proteins in preventing genomic instability and suppressing tumorigenesis.

tumorigenesis


Input: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22.

dysmyelinating leukodystrophy


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.

schizophrenia

schizophrenia


Input: A significant decrease in LOX-1 mRNA was found in placental explant cultures under hypoxic conditions.

hypoxic


Input: Treating neuroblastoma cells with TNF-α resulted in the activation of nuclear factor-kappa B (NF-κB) and subsequently, the translocation of NF-κB from the cytoplasm to the nucleus.

TNF-α

translocation


Input: Immunohistochemical and ultrastructural observations revealed that all the tumors were ependymal in nature with positivity for GFAP and epithelial membrane antigen and negativity for oligodendrocyte transcription factor 2, showing intra-and intercellular microrosettes, leading us to a diagnosis of tanycytic ependymoma for the frontal lobe tumor and tanycytic ependymoma with ordinary ependymomatous component for the spinal cord tumors.

epithelial membrane antigen

tanycytic ependymoma


Input: Two novel molecular defects in the LCAT gene are associated with fish eye disease.

LCAT

fish eye disease

LCAT

fish eye disease


Input: The temporal inferior cortex (TIC) from Swedish FAD patients revealed a striking 2-to 3-fold increase in diene conjugates, lipid peroxides and protein carbonyls, compared to sporadic Alzheimer' s disease (AD).

FAD

sporadic


Input: Intriguingly, one of the family members had ocular melanoma, but the CDK4 mutation could not be detected in archival tissue samples from this subject.

ocular melanoma


Input: The polymorphisms in the genes encoding antioxidant enzymes, such as manganese superoxide dismutase (MnSOD) should, thus, result in predisposition to this psychiatric disorder.

manganese superoxide dismutase

psychiatric disorder


Input: However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS.

UMS

UMS


Input: Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, & #945; IIb & #946; 3, an integrin coded by the ITGA2B and ITGB3 genes.

GT

GT


Input: In contrast, samples from patients with pyogenic arthritis had moderate PTN levels, and those from patients with osteoarthritis had only a slight increase in PTN, as measured by ELISA.

PTN

pyogenic arthritis


Input: A patient with limb-girdle muscular dystrophy phenotype, with onset at 12 years of age, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.

alpha-dystroglycan

severe myopia


Input: The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear.

SRY

translocation


Input: We have generated an animal model for ARSACS, sacsin knockout mice, that display age-dependent neurodegeneration of cerebellar Purkinje cells.

sacsin

neurodegeneration


Input: Sequential and double in situ hybridization (ISH) and immunohistochemistry (IHC) were performed on thin sections of human conjunctiva to determine the colocalization of the immunoreactivity of IL-4, IL-5, IL-6, and IL-13 to mast cell subsets in normal subjects and subjects with atopy and to detect IL-4 mRNA in conjunctival mast cells.

atopy


Input: ]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.

adhesion


Input: The mRNA and genomic DNA encoding TRKA were analysed in three unrelated CIPA patients who had consanguineous parents.

TRKA

CIPA

TRKA

CIPA


Input: An evaluation of the mutation spectra in K-ras and p53 gene was effected in 167 Tunisian patients with sporadic CRC to determine whether our populations have similar pattern of genetic alteration as in Maghrebin' s population.

p53 gene

sporadic


Input: We demonstrated previously that disruption of the germ cell-specific lactate dehydrogenase C gene (Ldhc) led to male infertility due to defects in sperm function, including a rapid decline in sperm ATP levels, a decrease in progressive motility, and a failure to develop hyperactivated motility.

lactate dehydrogenase C

male infertility

lactate dehydrogenase C

male infertility


Input: Lpin1 (1Hubr) rats are characterized by hindlimb paralysis and mild lipodystrophy that are detectable from the second postnatal week.

mild


Input: The results suggest that WNT4 might not contribute to the aetiology of Müllerian duct abnormalities in Chinese women.

abnormalities


Input: The balanced translocation t (11; 22) (q24; q12) is specific for the Ewing' s sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR).

EWS

translocation


Input: Telomeric restriction fragment (TRF) length of gastric cancer was measured with Southern blot.

TRF

gastric cancer


Input: In this study, we will review the general functions of pentraxins in innate immunity and inflammation, focusing our attention on the prototypic long pentraxin PTX3.

inflammation


Input: The enhanced VEGF gene transcription in TAMR-MCF-7 cells was suppressed by amurensin G. Molecular analyses using reporter genes with hypoxia response elements and activator protein-1 (AP-1) elements, and western blots revealed that the activities and the nuclear levels of hypoxia inducible factor-1 (HIF-1) α and AP-1 in TAMR-MCF-7 cells were decreased by amurensin G. Moreover, amurensin G concentration-dependently inhibited protein expression and gene transcription of Pin1 in TAMR-MCF-7 cells, which was dependent on E2F1 inhibition.

hypoxia


Input: MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease.

ECM

arthritis


Input: In the present study we focused on two cathepsins, CATS and CATX, and studied their spatiotemporal expression and activity during the development and progression of neuropathic pain in the CNS of the rat 5th lumbar spinal nerve transection model (L5T).

CATS

neuropathic pain


Input: When mutations in hMSH6 were included, more than 80% of Chinese colorectal cancer patients younger than 31 years had germline mutations in mismatch repair genes.

colorectal cancer

colorectal cancer


Input: The present study suggests that genetic variation in or near the ME2 gene is associated with both psychotic and manic disorders, including schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: Most significantly, loss of Pdcd4 augments hypoxia induction of LOX as well.

LOX

hypoxia


Input: Here, we investigated the molecular mechanism involved in the induction of ctgf/ccn2 by hypoxia in a human chondrosarcoma cell line, HCS-2/8.

hypoxia


Input: The abnormal serum PON1 distribution in diabetic patients, could be responsible for the accelerated atherosclerosis development in these patients.

atherosclerosis

atherosclerosis


Input: As immature teratomas are classified as germ cell tumours, we performed a comprehensive mutation survey of 106 apparently sporadic germ cell tumours, but did not find any other clearly deleterious SMARCA4 mutations.

sporadic


Input: Although a significant role of TLR3/TLR4 in neurodegeneration is gaining certainty, their importance in establishing a causal link between prenatal infection and immuno-inflammatory, oxidative and nitrosative stress (IO & NS) responses and influence on adult presentation of schizophrenia is yet to be ascertained.

schizophrenia

schizophrenia


Input: Stress can play an important role in etiology of fibromyalgia syndrome (FMS) by activating the hypothalamic-pituitary-adrenal (HPA) axis, the sympathetic nervous system (SNS), and altering the immune system.

HPA

fibromyalgia syndrome


Input: We have investigated frameshift mutations in exonic repeats in the ATR, BRCA1, BRCA2, PTCH, CTCF, Cx26, NuMa and TGFbetaRII genes, using human tumor samples from stomach, esophagus, breast and skin and melanoma, as well as colon cancer and endometrial cancer cell lines (125 samples in total).

colon cancer


Input: We conducted a meta-analysis to assess the association between the N363S polymorphism of the GRL gene and obesity risk.

GRL

obesity


Input: The mammalian gene encoding Beclin 1, a novel Bcl-2-interacting, coiled-coil protein, has structural similarity to the yeast autophagy gene, apg6/vps30, and is mono-allelically deleted in 40-75% of sporadic human breast cancers and ovarian cancers.

sporadic


Input: The authors found a nonsignificant trend of a lower body mass index and higher Pediatric Crohn Disease Activity Index in patients with CARD15 mutations.

body mass index


Input: Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.

inflammation


Input: ELISA and Western blot analysis determined the synthesis and secretion of MIF by human bladder transitional cell carcinoma cells.

MIF

bladder transitional cell carcinoma


Input: Randomized, double-blind, placebo-controlled clinical trial where 204 AD patients (74 +/-9 years) with acetylcholine esterase inhibitor treatment and a MMSE > 15 points were randomized to daily intake of 1. 7 g DHA and 0. 6 g EPA (omega3 group) or placebo for 6 months.

EPA

blind


Input: Previous studies demonstrated that in ischemia-reperfusion (I/R) injury of the small intestine, the TLR2-dependent signaling exerted preventive effects on the damage in young mice, but did not have a significant effect in neonatal mice.

ischemia


Input: Therefore, we investigated relative mRNA expression of selected adipocytokine genes (leptin, leptin receptors (LEPRA, LEPRB, LEPRC, LEPRD) and adiponectin receptors (ADIPOR1, ADIPOR2)) in placental tissues from women with pre-eclampsia (n = 6) or CHBP (n = 8).

pre-eclampsia


Input: We also found that the association between lncRNA-EBIC and EZH2 was required for the repression of E-cadherin, which was a key molecular in the metastasis of cervical cancer.

lncRNA-EBIC

metastasis


Input: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

alternating hemiplegia of childhood

alternating hemiplegia of childhood


Input: These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.

breast cancer

breast cancer


Input: A potential role for lysophosphatidic acid (LPA) in human oncogenesis was first suggested by the observation that LPA is present at elevated levels in ascites of ovarian cancer patients.

LPA

ascites


Input: Expression of HIF-1alpha and cleaved caspase 3 localised to necrotic areas.

caspase 3

necrotic


Input: In t-MDS cases, the translocation resulted in the NUP98/TOP1 fusion transcript.

translocation


Input: To examine the effect of transforming growth factor (TGF) beta3 on immortalized myometrial and leiomyoma cell lines cloned from primary cell cultures of surgical specimens, and to determine whether such treatment alters myometrial cell extracellular matrix (ECM) expression.

leiomyoma


Input: Phenotype of cells expressing mRNA for TH2-type (interleukin 4 and interleukin 5) and TH1-type (interleukin 2 and interferon gamma) cytokines in bronchoalveolar lavage and bronchial biopsies from atopic asthmatic and normal control subjects.

atopic


Input: Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN).

CHN

congenital hypomyelinating neuropathy


Input: Administration of a recombinant adenovirus overexpressing SLPI (Adv/SLPI) into the cortical tissue resulted in up to 58. 4% reduction in ischemic lesion over controls at the site of Adv/SLPI expression (p < 0. 01, n = 8) and significantly improved functional outcome (p < 0. 01).

SLPI

adenovirus


Input: ILK mediated pressure-stimulated adhesion through specifically regulating phosphorylation of AKT at Ser473 and FAK at Tyr397 and 576 as well as ILK association with FAK and AKT.

AKT

adhesion


Input: These results support the evaluation of this form of IL-2 gene therapy in additional patients with glioblastoma.

glioblastoma

glioblastoma


Input: A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

adermatoglyphia

adermatoglyphia


Input: The analysis of SNP data from trios can provide an additional category of information about the nature and origin of inheritance patterns, including uniparental disomy (UPD), loss of transmitted allele (LTA), and nonparental relationship.

LTA

uniparental disomy


Input: Here we demonstrate an association between increased IDO levels and progression to clinical mycobacterial disease in a natural host, characterizing gene expression, protein localization, and functional effects.

IDO

mycobacterial disease


Input: The oncogenic JUNB/CD30 axis contributes to cell cycle deregulation in ALK + anaplastic large cell lymphoma.

JUNB

large cell lymphoma


Input: Upon ischemia-induced degeneration of the S3 segment, we observed a reduction in Chordin-like 1 expression coincident with intense BMP signaling in tubules of the recovering kidney.

Chordin-like 1

ischemia


Input: Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

hypohidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia


Input: No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism.

mineralocorticoid receptor

sporadic


Input: Spred-2, a predicted target of miRNA-221 and miRNA-485-3p, was downregulated in murine asthma models.

asthma


Input: In conclusion, using FISH to identify MAML2 rearrangement is a valuable diagnostic tool in the evaluation of thymic malignancies, specifically, distinguishing TMEC from squamous cell carcinoma and adenosquamous carcinoma.

FISH

adenosquamous carcinoma


Input: Taken together, these results demonstrate that hypoxia induces fibroblast ITGB1 expression and function by transcriptional mechanisms dependent on HIF.

hypoxia


Input: Target prediction suggested that miR-940 regulated cell signaling including NF-κB and Wnt/β-catenin, as well as pathways of cell communication and adhesion.

NF-κB

adhesion


Input: Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.

epsilon-sarcoglycan

Myoclonus-dystonia

epsilon-sarcoglycan

Myoclonus-dystonia


Input: HNPCC pretumor progression essentially begins from birth and ends with MMR loss, implying elevated mutation rates and tumorigenesis may be unnecessary for most progression.

MMR

tumorigenesis


Input: Clinically, mortalin overexpression in HCC was closely associated with advanced tumor stages and venous infiltration, having implications for increased malignancy and aggressive behavior.

HCC

aggressive behavior


Input: RER was found in 17 cases (4 with gastric, 12 with colorectal, and 1 with gallbladder cancer), and 10 of those (3 with gastric and 7 with colorectal cancer) showed mutations of the RII gene.

RER

gallbladder cancer


Input: Moreover, this observation of miR-19a and TNF-α was also occurred in DSS-treated mice colitis.

colitis


Input: On the other hand, the variant translocation, t (12; 22) (q13; q12) creating the Ewing sarcoma (EWS)-CHOP fusion transcript, is detectable in a limited number of cases.

EWS

translocation


Input: Thus, suppression of KCNQ/M channels in primary DRG neurons plays a crucial role in the development of bone cancer pain.

DRG

cancer pain


Input: The functions of LZAP in the proliferation, colony formation, cell cycle, migration, invasion and apoptosis of HCC cell lines were also analyzed by infecting cells with an adenovirus containing full-length LZAP.

HCC

adenovirus


Input: Overexpression of TIP30 might be a promising candidate as a treatment for HCC that would increase sensitivity to chemotherapeutic drugs.

HCC

HCC


Input: In this study, possible mutations in the TSC gene of six Japanese patients clinically diagnosed with GS were investigated.

TSC

GS

TSC

GS


Input: De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

GMNN

Meier-Gorlin Syndrome

GMNN

Meier-Gorlin Syndrome


Input: Understanding the biophysical functions of the MMR components is crucial to elucidating the role of MMR in human tumorigenesis and determining the pathogenetic consequences of patients that present in the clinic with an uncharacterized variant of the MMR genes.

MMR

tumorigenesis


Input: Therefore, we investigated the role of CCR5 during lipopolysaccharide (LPS)-induced acute kidney injury.

acute kidney injury

acute kidney injury


Input: A significant negative correlation was observed between the percentage of Dlco and MCP-1 and MIP-1 alpha levels in BAL fluid in patients with PF (r =-0. 65, p = 0. 003; r =-0. 48, p = 0. 04; respectively).

MIP-1 alpha

PF

MIP-1 alpha

PF


Input: Although future studies are surely required, the identification of different vascular profiles in HCCs from cirrhotic and non-cirrhotic livers may help clarify the relationship between HCC progression and aggressiveness.

HCC

aggressiveness


Input: Human immunodeficiency virus (HIV)-1 infection of the CNS produces changes in dendritic morphology that correlate with cognitive decline in patients with HIV-1 associated dementia (HAD).

HAD

cognitive decline


Input: Kleine-Levin syndrome (KLS) is a rare disorder characterized by recurrent episodes of hypersomnia, cognitive or behavior disturbances, compulsive eating behavior, and hypersexuality.

KLS

hypersexuality


Input: Effect of transforming growth factor-alpha on enterocyte apoptosis is correlated with EGF receptor expression along the villus-crypt axis during methotrexate-induced intestinal mucositis in a rat.

transforming growth factor-alpha

mucositis

transforming growth factor-alpha

mucositis


Input: The patient from whom this CTL clone was isolated had mild graft-versus-host disease despite high numbers of circulating ECGF-1-specific T cells as detected by tetramer staining.

ECGF

mild


Input: Using immunofluorescence directed to TLR4, we found that a third of sporadic human colorectal cancers over-express this marker.

sporadic


Input: Key independent risk factors identified by regression modeling included having a twin or sibling with CF and diabetes, increasing age, pancreatic exocrine insufficiency or two mutations causing severe CFTR dysfunction, decreased lung function or decreased body mass index, and longer duration of glucocorticoid treatment.

CFTR

regression


Input: Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene.

RS1 gene

secondary


Input: These findings suggest that AbdB-type HOXA genes are common targets of t (7; 11) (p15; p15) chromosomal translocations and that a single translocation can produce more than one NUP98-HOXA fusion gene, presumably because of altered splicing.

translocation


Input: To address this question, in the present study, we used a retroviral small interfering RNA approach to selectively knockdown the expression of RhoC in a neovascularization model in vivo and in vitro.

RhoC

neovascularization


Input: Src-suppressed C-kinase substrate (SSeCKS, the rodent orthologue of human Gravin/AKAP12), whose expression is downregulated by oncogenic Src and in many human cancers, antagonizes oncogenic Src pathways including those driving neovascularization at metastatic sites, metastatic cell motility and invasiveness.

neovascularization


Input: However, three SNPs in TYR, SILV/CDK2 and ADAMTS20 genes (rs17793678, rs2069398 and rs1510521 respectively) had an overall p-value & lt; 0. 05 when considering the whole DNA collection (1214 MM cases and 1296 controls).

MM

MM


Input: Distinctive immunohistochemical staining for alpha (2) M could be consistently demonstrated in GST-P-negative HAF, HCA, and HCC induced not only by peroxisome proliferators but also N-nitrosodiethylamine alone.

alpha (2) M

HCA

alpha (2) M

HCA


Input: This phenomenon is not limited to TGFβ since other growth factors implicated in fibrosis, such as FGF, EGF and PDGF-B, also regulated PDGF-D and PDGF-C expression.

EGF

fibrosis


Input: Using multivariable logistic regression, older age, increased body mass index, menopausal status, and PGR rs484389 genotype CT were significantly associated with POP.

PGR

body mass index


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

transgelin 2

HCC

transgelin 2

HCC


Input: In situ hybridization of serial sections of lung tissue revealed numerous cells positive for NOS2 and TNF-alpha, suggesting that NOS2 and TNF-alpha expression may play a role in the pathophysiology of pleuropneumonia.

pleuropneumonia


Input: Longitudinal analysis with a generalized linear mixed-effect model and with adjustment for age, gender, body mass index and smoking status among individuals not taking anti-hypertensive medication revealed that rs6929846 of BTN2A1 was significantly associated with systolic (P = 0. 0017), diastolic (P = 0. 0008) and mean (P = 0. 0005) BP, and that rs2116519 of FAM78B, rs146021107 of PDX1 and rs1671021 of LLGL2 were significantly associated with diastolic (P = 0. 0495), systolic (P = 0. 0132), and both diastolic (P = 0. 0468) and mean (0. 0471) BP, respectively.

body mass index


Input: Tumor-specific low molecular weight forms of cyclin E induce genomic instability and resistance to p21, p27, and antiestrogens in breast cancer.

cyclin E

genomic instability


Input: At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.

MAOA

PHEO

MAOA

PHEO


Input: Inhibition of myosin light chain kinase reduces brain edema formation after traumatic brain injury.

myosin light chain kinase

brain edema

myosin light chain kinase

brain edema


Input: Moreover, poorly invasive breast cancer cells displayed a marked increase in LOX-dependent FAK/Src activation and cell migration following hypoxia/reoxygenation, but not in response to hypoxia alone.

LOX

hypoxia


Input: It has been reported that NTM might play a role in late-onset Alzheimer disease while NR3C2 may be associated with cognitive function and major depression.

NTM

major depression

NTM

major depression


Input: We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.

ROGDI

ASD

ROGDI

ASD


Input: The aim of the present study was to examine the impact of a novel NHE1 inhibitor, sabiporide, on cardiovascular function, blood oxygen transportation, and inflammatory response in an experimental model of metabolic acidosis produced by hemorrhage-induced hypovolemia followed by an infusion of lactic acid.

hypovolemia


Input: We determined the expression level and the distribution pattern of small leucine-rich repeat proteoglycans (decorin, biglycan, and lumican), collagen and lymphatic vessels in healthy, mild, and severe persistent allergic nasal mucosa.

biglycan

mild


Input: We hypothesised that gene therapy with BRCA1, a critical regulator of DNA damage repair and cell survival, would attenuate the sequelae of sepsis and peritonitis in mice subjected to caecal ligation and perforation (CLP) and thioglycollate stimulation.

CLP

peritonitis


Input: Autotaxin mRNAs were quantified in adipose tissue from db/db mice (obese and highly diabetic type 2), gold-thioglucose-treated (GTG) mice (highly obese and moderately diabetic type 2), high-fat diet-fed (HFD) mice (obese and moderately diabetic type 2), streptozotocin-treated mice (thin and diabetic type 1), and massively obese humans with glucose intolerance.

Autotaxin

glucose intolerance


Input: These results provide the first evidence of both homo-and heterodimerization of mammalian ABC half-transporters and suggest that the loss of ALDP dimerization plays a role in X-ALD pathogenesis.

ALDP

X-ALD

ALDP

X-ALD


Input: TXNIP transcript and protein levels were significantly elevated in human AML blasts of certain patients, particularly those harboring translocation t (8; 21).

TXNIP

translocation


Input: METHODS: Using adenoviral-mediated transfection of human A549 lung cancer cells to over-express eIF5A1 and eIF5A1K50A, the mechanism by which unhypusinated eIF5A1 induces apoptosis was investigated by Western blotting, flow cytometry, and use of MAPK and p53 inhibitors.

lung cancer


Input: MTA1 overexpression in HCT-116 cells enhanced proliferation, adhesion to fibronectin, motility, migration, invasion through Matrigel, anchorage-independent growth, neoangiogenesis and induced a loss of apoptosis.

adhesion


Input: Aberrant CpG island methylation of the p16 (INK4a) and estrogen receptor genes in rat lung tumors induced by particulate carcinogens.

estrogen receptor

lung tumors

estrogen receptor

lung tumors


Input: In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and pulmonary edema via an eNOS-dependent mechanism in a murine model of CHF.

eNOS

pulmonary edema

eNOS

pulmonary edema


Input: On the other hand, transfer of CagA (-) H. pylori-primed spleen cells into CagA (+) H. pylori-infected RAG2 (-/-) mice induced more severe chronic gastritis with less Foxp3 (+) regulatory T-cell infiltration as compared to transfer of CagA (+) H. pylori-primed spleen cells.

chronic gastritis


Input: Prolonged inflammation follows activation of the BCL10-NFκB inflammatory loop in response to carrageenan, shown by increased BCL10, RelA, and IL-8 for 36 to 48h and increased RelB for 24h following withdrawal of carrageenan after 12h.

RelB

inflammation


Input: Sixty consecutive non-smoking patients (mean age 46. 77 +/-4. 96) with moderate to severe chronic periodontitis were treated with scaling and root planing (SRP).

SRP

smoking


Input: The RAD51 gene has been localized to chromosome 15q and possesses regulatory functions involving DNA stability and cell proliferation, suggesting its possible role in tumorigenesis.

RAD51 gene

tumorigenesis


Input: Types and frequencies of in vivo mutation in the hypoxanthine-guanine phosphoribosyl-transferase (HPRT) gene was studied in 142 T cell mutants from 78 healthy nonsmoking and smoking adults with a mean of 65 years.

HPRT

smoking


Input: Although Dazl-/-mice remained infertile when the DAZ transgene was introduced, histological examination revealed a partial and variable rescue of the mutant phenotype, manifest as a pronounced increase in the germ cell population of the seminiferous tubules and survival to the pachytene stage of meiosis.

DAZ

infertile


Input: This study reveals an elaborate but highly organized molecular interplay between Rad51 regulators and has significant implications for understanding tumorigenesis and therapeutic resistance in patients with BRCA2 deficiency.

tumorigenesis


Input: Our previous studies revealed that hypoxia-induced gene expression of human ccn2 mRNA is regulated post-transcriptionally in human chondrosarcoma-derived cell line, HCS-2/8, in which a minimal cis-element, entitled CAESAR, in the 3'-untranslated region (UTR) of ccn2 mRNA and a 35-kDa protein counterpart play an important role by determining the stability of ccn2 mRNA.

hypoxia


Input: Due to limited phenotype-genotype correlation among patients with movement disorders, if " eye-of-the-tiger " brain MRI is present, PANK2 mutations investigation are needed to confirm PKAN disease.

PKAN

PKAN


Input: Several genetic abnormalities, including mutations in RUNX1 (AML1), TET2, ASXL1 and TP53, have been discovered in a substantial fraction of MDS cases; genes rearranged or mutated less commonly in MDS include IER3, ATRX, RAS and FLT3.

abnormalities


Input: Notably, miR-149 down-regulation in clinical HCC tissues was correlated with tumor aggressiveness and poor prognosis of patients.

HCC

aggressiveness


Input: Point-mutated luciferase reporter studies indicated that AP-1 and NF-kappaB-like factor binding elements were mainly responsible for hypoxia-induced increase in IL-8 gene expression in human ovarian cancer cells, and that IL-8 transcription activation by hypoxia required the cooperation of NF-kappaB and AP-1 binding sites.

hypoxia


Input: These collective data indicated that REG3A overexpression promotes CRC tumorigenesis by activating AKT and ERK1/2 pathways.

tumorigenesis


Input: To determine the relationship between early NF2 gene inactivation and the molecular mechanisms that may contribute to meningioma tumor progression, we have performed deletion mapping analysis at chromosomes 1, 14 and 22 in a series of 81 sporadic meningiomas (54 grade I (typical), 25 grade II (atypical) and two grade III (anaplastic)), which were also studied for NF2 gene mutations.

NF2 gene

sporadic


Input: CHGA, BMI, and leptin each displayed substantial h (2), and the traits also aggregated with several features of the metabolic syndrome (e. g., insulin resistance, blood pressure (BP), hypertension, catecholamines, and C-reactive protein (CRP)).

CRP

insulin resistance


Input: These findings show for the first time in an animal model that acute hepatitis impairs the repair of oxidative DNA base damage and strongly suggest that the repair of endogenous DNA adducts plays a critical role in the development of spontaneous hepatocellular carcinoma in LEC rats.

LEC

acute hepatitis


Input: We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome).

Martsolf syndrome

Martsolf syndrome


Input: Human ApoE ε4 alters circadian rhythm activity, IL-1β, and GFAP in CRND8 mice.

GFAP

circadian rhythm


Input: The dissociation of the 4E-BP-eIF4E complex, a key event in the cap-dependent mRNA translation initiation, is dramatically reduced in LPS-stimulated Cot/tpl2-knockout (KO) macrophages versus LPS-stimulated wild-type (Wt) macrophages.

dissociation


Input: Malignant mucoepidermoid salivary gland tumors, as well as a growing number of solid epithelial-derived tumors, can arise from a recurrent t (11, 19) (q21; p13. 1) translocation that generates an unusual chimeric cAMP response element binding protein (CREB)-regulated transcriptional coactivator 1 (CRTC1)/mastermind-like 2 (MAML2) (C1/M2) oncoprotein comprised of two transcriptional coactivators, the CRTC1 and the NOTCH/RBPJ coactivator MAML2.

RBPJ

translocation


Input: After 7 days of a high-sodium diet (220 mmol Na (+) per day), we measured in 42 essential hypertensive patients blood pressure, heart rate, effective renal plasma flow (ERPF), glomerular filtration rate (GFR), active plasma renin concentration, aldosterone, and atrial natriuretic peptide (ANP) before and during Ang II infusion (increasing doses of 0. 3, 1. 0, and 3. 0 ng/kg per minute).

ANP

heart rate


Input: TAL1 gene rearrangement was found in one case, while loss of heterozygosity (LOH) and microsatellite instability (MI) was identified in another case.

TAL1 gene

microsatellite instability


Input: The selective cyclooxygenase-2 (COX-2) and 5-lipoxygenase (LOX) inhibitors might inhibit prostaglandin synthesis and reduce proteinuria.

proteinuria


Input: This is the first report of the association of SHH mutations and uveoretinal coloboma.

SHH

uveoretinal coloboma


Input: Key role of the RhoA/Rho kinase system in pulmonary hypertension.

Rho kinase

pulmonary hypertension


Input: To identify the translocation partners, these cases were further studied with probes for the MYC, BCL2, BCL6, BCL3, REL/BCL11A, JAK2/PDCD1LG2 (alias PDL2) C14orf43, and C2TA loci.

translocation


Input: However, our study indicates that a fraction of sporadic LAM can be a TSC1 disease; therefore, both TSC genes should be examined, even for patients with sporadic LAM.

TSC

TSC


Input: Therefore, subtelomeric FISH analysis is indicated as a second tier test after high-resolution G-banding analysis, in subjects with otherwise unexplained developmental delay/MR and/or MCA.

FISH

developmental delay


Input: In rodents, heat generation and the burning of calories by the mitochondrial uncoupling protein 1 (UCP1) are important for metabolic control.

mitochondrial uncoupling protein 1

burning


Input: Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.

ANKH

calcium pyrophosphate dihydrate deposition disease

ANKH

calcium pyrophosphate dihydrate deposition disease


Input: Nine patients with lactase-persistence genotype (LCT-13910CT or LCT-13910TT) had normolactasia, eleven patients with hypolactasia genotype (LCT-13910CC) had severe hypolactasia, and among twelve with mild hypolactasia, except for one that had LCT-13910CT genotype, all the others had hypolactasia genotype.

LCT

mild


Input: Our data suggest that hypoxia activates SphK2 to promote the synthesis and release of S1P, which in turn binds to S1P (1)/S1P (3) receptors, thus activating p42/44 mitogen-activated protein kinase to convey autocrine or paracrine protection of A549 cells.

hypoxia


Input: Atrophy in FAD is observed early, both in areas commonly associated with sporadic Alzheimer disease and also in the putamen and thalamus, 2 regions associated with early amyloid deposition in FAD mutation carriers.

FAD

sporadic


Input: RYR1-related myopathies are usually of early-childhood onset.

childhood onset


Input: Troglitazone inhibited the growth of human cholangiocarcinoma cell lines by inducing apoptosis and by cell cycle regulation (G1 arrest), and this was associated with caspase 3 and caspase 9 activation.

caspase 9

cholangiocarcinoma


Input: E (+) B10 (A (+) E (+)) mice were also depleted of CD4 (+) CD25 (+) T cells before the challenge to determine their role in thyroiditis in the presence of both H2A and H2E genes.

thyroiditis


Input: Extracellular signal-regulated kinase (ERK) phosphorylation was decreased in the CA1 region with time after ischemia.

ischemia


Input: Fatty acid oxidation defects (FAOD), glycogen storage disease, and mitochondrial myopathies represent the 3 main groups of disorders, and some consider myoadenylate deaminase (AMPD1 deficiency) to be a metabolic myopathy.

myoadenylate deaminase

AMPD1 deficiency

myoadenylate deaminase

AMPD1 deficiency


Input: Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber' s Disease.

Farber' s Disease

Farber' s Disease


Input: Here, we examined the effects of epigallocathechin gallate (EGCG) on STAT3 signaling in pancreatic cancer cells, and assessed the therapeutic potential of EGCG with gemcitabine or JAK3 inhibitor CP690550 (Tasocitinib) for the treatment and/or prevention of pancreatic cancer.

pancreatic cancer


Input: Dysregulation of Tensin expression has previously been implicated in human cancer.

Tensin

cancer


Input: Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss.

Plasminogen activator inhibitor 1

early pregnancy loss


Input: To investigate if genes associated with cleft lip/palate were also associated with oral cancer, we genotyped 188 individuals with OSCC and 225 control individuals for markers in AXIN2, AXIN1, GSK3β, WNT3A, WNT5A, WNT8A, WNT11, WNT3, and WNT9B.

cleft lip/palate


Input: It has been reported that the nicotinic acetylcholine receptor subunit α4 gene (CHRNA4) might be associated with smoking behaviors in the previous studies.

smoking behaviors


Input: In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).

alcohol consumption


Input: Increases in HSF1 translocation and synthesis in human epidermoid A-431 cells: role of protein kinase C and [Ca2 +] i.

translocation


Input: The DNA index (DI) and S-phase fraction (SPF) have been said to be independent factors in colorectal adenocarcinoma and have a different distribution from the clinicohistologic parameters.

SPF

colorectal adenocarcinoma


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

dilatation


Input: As the percentage of apoptosis decreased, there was a significantly higher increase of both CD4 (+) and CD4 (+) naive T cells in arm II vs arm I. HIV plasma viremia was reduced in all patients after therapy.

viremia


Input: High SPAG9 expression (> 60% SPAG9 positive cells) was found to be significantly associated with superficial non-muscle invasive stage (P = 0. 042) and low grade tumors (P = 0. 002) suggesting SPAG9 putative role in early spread and tumorigenesis.

tumorigenesis


Input: Jnk-2-/-animals were protected from hepatic ischemia reperfusion injury.

ischemia reperfusion injury

ischemia reperfusion injury


Input: Multifocal occurrence, potential malignancy, genetic aspects, possible coincidence of thyroid carcinoma, and hormone production have to be considered in patients with head and neck PGLs.

PGLs

malignancy


Input: To uncover this, we performed PCR array analysis using the HCT116 cell line, a positive control for C4. 4A expression and we found that Tenascin-C (TNC) among the many adhesion molecules and extracellular matrix proteins was the best candidate for C4. 4A molecule induction.

C4. 4A

adhesion


Input: The goal of this study was to determine the incidence of NSD1 abnormalities in patients referred to a clinical laboratory for testing and to identify clinical criteria that distinguish between patients with and without NSD1 abnormalities.

abnormalities


Input: Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Lethal neonatal rigidity and multifocal seizure syndrome

Lethal neonatal rigidity and multifocal seizure syndrome


Input: The objective of the study was to investigate the significance of LC3 and beclin 1 in the pancreas of rat after acute necrotizing pancreatitis (ANP) and whether nuclear factor κB (NF-κB) signal regulates autophagy during sodium taurocholate-induced ANP.

acute necrotizing pancreatitis


Input: CD4 (+) T-cell subsets lacking surface CD28 in peripheral blood have been suggested to predispose people to atherosclerosis.

atherosclerosis


Input: Glucocorticoids suppress inflammation via the upregulation of negative regulator IRAK-M.

IRAK-M

inflammation


Input: Incubation of the complex under acidic conditions resulted in dissociation and degradation of the inhibitory propeptide leading to increased enzymatic activity, as also observed for partially purified cathepsin B isoenzymes from purulent sputum and mammary tumor explant media.

cathepsin B

dissociation


Input: These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C.

XPCC

Xeroderma pigmentosum group C

XPCC

Xeroderma pigmentosum group C


Input: Down-regulation of XAF1 in association with hypermethylation was detected in 3 of 4 human gastric cancer cell lines and 6 of 8 colon cancer cell lines.

gastric cancer

gastric cancer


Input: Inhibitors of HDAC are a novel class of therapeutic agents in diabetic nephropathy, but currently available inhibitors are mostly nonselective inhibit multiple HDACs, and different HDACs serve very distinct functions.

HDAC

diabetic nephropathy


Input: We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.

MR-GEF

major depressive disorder

MR-GEF

major depressive disorder


Input: The p53 mutational spectrum from ovarian cancers containing either somatic or germ-line BRCA1 mutations was compared with that of sporadic ovarian cancers defined as those diagnosed with a negative family history for breast/ovarian cancer in a three-generation pedigree.

sporadic


Input: Etanercept, a soluble TNF receptor, and TNFR1 deficiency protected against the depression in diaphragm-specific force caused by doxorubicin.

depression

depression


Input: In the clinical cases neither food allergy nor FLG mutations had a significant effect.

FLG

food allergy


Input: Conversely, FoxO1 loss of function, caused by hepatic production of its dominant-negative variant, suppressed hepatic gluconeogenesis, resulting in enhanced glucose disposal and improved insulin sensitivity in db/db mice.

insulin sensitivity


Input: The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.

EWS

translocation


Input: This finding is in line with the finding of constitutive DNA damage checkpoint activation (p-Chk2, γ-H2AX) and evidence for replicative stress causing genomic instability (increased cyclin E, retinoblastoma, or E2F1 mRNA expression) in FTC but not FA.

cyclin E

genomic instability


Input: However, the exact role of AURKA in the regulation of neuroblastoma tumorigenesis remains unknown.

AURKA

tumorigenesis


Input: The results showed that CXCR4 silencing could inhibit the cell invasive and adhesion potentials, expression of N-cadherin, vimentin, β-catenin, TGF-β1, p-Smad2, and p-Akt, and the activity of transcription factors NF-κB, AP-1, Snail, and twist.

NF-κB

adhesion


Input: Transfection studies revealed that overexpression of wild-type or proteolytically inactive Lon promoted assembly of COX II into a COX I-containing complex, and partially prevented mitochondrial dysfunction caused by brefeldin A or hypoxia.

COX

hypoxia


Input: The authors prospectively studied the clinical features of benign convulsions with mild gastroenteritis in Taiwanese children and clarified the relationship between neuronal sodium channel alpha 1 subunit (SCN1A) gene and benign convulsions with mild gastroenteritis.

mild


Input: Although the molecular basis of genomic instability in sporadic colorectal cancers remains largely a mystery, mutation of the p53 tumor suppressor gene (also known as TP53) has been proposed to play an integral role in this process.

sporadic


Input: Furthermore, significantly higher levels of pSTAT3, RORc, and IL-17A, and significantly lower levels of SOCS3 were found in the atopic group than in the non-atopic group (P < 0. 05).

atopic


Input: Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase.

basophilia


Input: Studies on the functional effects of pathogenic dominant mutations have shown that they mostly affect intracellular Ca2 + homoeostasis, either by rendering the channel hypersensitive to activation (malignant hyperthermia) or by altering the amount of Ca2 + released subsequent to physiological or pharmacological activation (central core disease).

malignant hyperthermia


Input: We have investigated whether a ERBB2 gene dosage effect might provoke increased biological aggressiveness and altered trastuzumab sensitivity.

ERBB2 gene

aggressiveness


Input: Testing various multivariate Cox regression models, KPNA2 expression remained a highly significant, independent and adverse risk factor for overall survival.

regression


Input: Immunohistochemical analysis indicated statistically elevated nuclear expression for Id4 protein in carcinomas in comparison to adenomas and normal mammary gland.

carcinomas

carcinomas


Input: The effect of OXT is distinct from the epidermal growth factor (EGF)-induced migration of prostate cancer cells, in which ERK1/2 and EGF receptor kinase activities were required.

OXT

prostate cancer


Input: Forced expression of CXCL14 in H23 cells, where this gene is silenced by methylation, increased cell death in vitro and dramatically reduced the in vivo growth of lung tumor xenografts through necrosis of up to 90% of the tumor mass.

lung tumor

lung tumor


Input: Potential role of estradiol and progesterone in insulin resistance through constitutive androstane receptor.

constitutive androstane receptor

insulin resistance


Input: GAPO syndrome' s major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation.

GAPO syndrome

GAPO syndrome


Input: By combining several such studies, we show in this study that somatic TP53 abnormalities are more common in breast cancer associated with BRCA1 or BRCA2 germ-line mutations than in sporadic breast cancers (odds ratio, 2. 8; P = 0. 0003).

sporadic


Input: The aim of the study was to explore the association between OPG, RANKL, and RANK gene variations and the bone mineral density (BMD) response to alendronate therapy in postmenopausal Chinese women with osteoporosis or osteopenia.

RANKL

bone mineral density


Input: More than 90% of Ewing' s sarcomas (ES) contain a fusion of the EWS and FLI1 genes, due to the t (11; 22) (q24; q12) translocation.

EWS

translocation


Input: Individuals carrying the XRCC1 Trp/Trp or Arg/Trp variant genotype were at significantly increased risk of noncardia GC (adjusted OR, 1. 48; 95% CI, 1. 00-2. 17), after adjustment for family history of cancer, drinking, and smoking.

smoking


Input: In an in vivo study using an isoproterenol-induced cardiac hypertrophy animal model, an acute infusion of ANG-(1-7) increased the plasma concentration of ANP by twofold without changes in blood pressure and heart rate.

ANP

heart rate


Input: Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue' s syndrome in a human subject.

insulin receptor

Donohue' s syndrome

insulin receptor

Donohue' s syndrome


Input: Production of IL-10 was measured following in vitro stimulation of PBMC using whole parasite extract (SWAP) or a panel of recombinant Schistosoma japonicum antigens (22-kDa tegumental membrane-associated antigen, glyceraldehyde-3-phosphate dehydrogenase, paramyosin, 14-kDa fatty acid-binding protein and 28-kDa glutathione S-transferase) which are of recognized interest in the development of protective immunity to schistosomiasis.

SWAP

schistosomiasis


Input: The expression of adhesion molecules including LFA-1 alpha, LFA-1 beta, CD2, VLA-4 alpha and VLA-5 alpha on CD4 + cells in the thyroid gland was markedly higher than that in peripheral blood.

adhesion


Input: We conclude that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic PDB and familial PDB that is not caused by SQSTM1 mutations.

OPG

sporadic


Input: Our data in the present study, combing our previous report, suggested that in the endogenous formaldehyde-induced pain in bone cancer pain rats, LSD1 in metastasized cancer cells contributed to the production of the endogenous formaldehyde.

bone cancer


Input: The effect of a TNFα-producing adipose tissue-derived MSC (AT-MSC/hTNFα) was tested on the tumour cell lines of different origins: melanoma (A375), breast carcinoma (SKBR3, MDA-MB-231), colon carcinoma (HT29), ovarian carcinoma (SKOV3) and glioblastoma (U87-MG) cells.

melanoma


Input: SLC6A4, TPH2, and SERPINA6 might be novel candidate genes for this common congenital anomaly.

congenital anomaly


Input: Which of the many functions of Rad9 are causally related to initiation and progression of tumorigenesis and the mechanistic details by which Rad9 induces or suppresses tumorigenesis are presently not known, but are crucial for the development of targeted therapeutic interventions.

tumorigenesis


Input: These results show that SAC has potential as an agent against tumour growth and the progression of oral cancer in a mouse xenograft model.

SAC

oral cancer


Input: Enhanced expression of interleukin-18 receptor alpha chain by CD4 + T cells in sarcoidosis.

sarcoidosis


Input: V642I mutation in amyloid precursor protein (APP) co-segregates with FAD with perfect penetration, and the clinicopathological characteristics of patients with this mutation resemble that of sporadic AD.

FAD

sporadic


Input: Our data show that HSP70 gene variants are associated with serious CBZ hypersensitivity reactions, but whether this is causal or reflects LD with another gene within the MHC requires further study.

hypersensitivity reactions


Input: To approach this issue the present study examined BDNF secretion from brain endothelial cells in response to reduced oxygen availability (hypoxia), using the mouse brain microvascular endothelial cell line, bEnd. 3.

BDNF

hypoxia

BDNF

hypoxia


Input: Overall, results do not show differences in cardiovascular risk in obese youth when categorized by PACER, PedsQL, or reports of MSK pain.

MSK

obese


Input: Moreover, in vitro coculture, experiments on Transwell plates, and in vivo survival experiments showed that MSC-based stTRAIL gene delivery has more therapeutic efficacy compared with direct injection of adenovirus encoding the stTRAIL gene into a tumor mass.

MSC

adenovirus


Input: Sex steroid hormone-induced ASP resistance via C5L2 may contribute to altered adipose tissue function and insulin resistance phenotype in humans.

ASP

insulin resistance


Input: FSTL1 has previously been implicated in diverse disease processes as a regulator of inflammatory cytokine expression, and we therefore evaluated the response of the genetrap strain to cisplatin-mediated acute kidney injury, a disease model with highly cytokine-dependent pathology.

acute kidney injury

acute kidney injury


Input: Since Nrf2 was determined to be a susceptibility gene for a model of acute lung injury, its protective capacity in the airways has been demonstrated in experimental models of human disorders using Nrf2 mutant mice which were susceptible to supplemental respiratory therapy (e. g., hyperoxia, mechanical ventilation), cigarette smoke, allergens, virus, environmental pollutants, and fibrotic agents compared to wild-type littermates.

hyperoxia


Input: We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein.

ATM

A-T

ATM

A-T


Input: However, CCS is genetically distinct owing to its consistent association with a t (12; 22) (q13; q12) chromosomal translocation, leading to the formation of the EWS/ATF1 fusion transcript.

EWS

chromosomal translocation


Input: To use pCN2 to study chromosome 9p abnormalities in malignancies, we undertook to localize the pCN2 crosshybridizing region in chromosome 9p.

abnormalities


Input: The antiamnesic activity of nerve growth factor (NGF) in various medicinal forms [aqueous NGF solution with and without polysorbate-80 (PS-80) additives, NGF adsorbed on poly (butyl) cyanoacrylate (PBCA) nanoparticles with and without PS-80 coating] has been studied in rats with model amnesia induced by scopolamine (2 mg/kg, s. c.).

nerve growth factor

amnesia

nerve growth factor

amnesia


Input: At day 7, there was intimal proliferation associated with pronounced expression of UII in myointimal cells.

UII

intimal proliferation


Input: Evidently, abrogation of p53 function did not affect the hypersensitivity to apoptotic stimuli.

hypersensitivity


Input: The study group consisted of 310 infertile patients: 115 with azoospermia and 195 with oligoasthenoteratozoospermia (OAT) and a control group of 250 fertile men.

OAT

infertile


Input: SCC lesions showed the highest AgNOR rate among the investigated epithelial neoplasms, followed in order by BD, BCC, SK, and SEB lesions.

SEB

epithelial neoplasms


Input: Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae.

myopic

myopic


Input: LMP1 promotes the interactions of heterodimeric NF-kappaB (p52/p65) and heterodimeric AP-1 (c-Jun/c-Fos) transcription factors with the human iE kappa enhancer region are important for the upregulation of kappa light chain in LMP1-positive nasopharyngeal carcinoma cells.

nasopharyngeal carcinoma


Input: In aggregate, these results indicate that most CD8 + cells in CD3 + CD4 + MF skin lesions are of T-cell rather than NK-cell differentiation.

skin lesions


Input: Similarly affected family members suggests benign familial " KCNQ-related " epilepsy, whereas neonatal seizures with unexplained multifocal epileptiform discharges or burst suppression on electroencephalography, and acute abnormalities of the basal ganglia/thalami are suggestive of KCNQ2-encephalopathy, which is often sporadic.

multifocal epileptiform discharges


Input: Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c. 364A & gt; C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: We have previously demonstrated a synergistic effect of combining the Th1 stimulating cytokine IL-12 with the co-stimulatory molecule CD80 in murine myeloma vaccination therapy.

myeloma


Input: Confocal immunofluorescence microscopy was used to identify sites of bFGF and FGF receptor 1 (FGFR1) expression after focal injury or experimental retinal detachment in adult rats.

FGF receptor

retinal detachment


Input: Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.

LXN

melanoma

LXN

melanoma


Input: IFN beta combined with agents that inhibit NF-kappaB could have therapeutic potential in the treatment of children with mixed lineage leukemia subtype ALL.

IFN

mixed lineage leukemia


Input: Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

heavy chain

thoracic aortic aneurysm


Input: Our results suggest that familial amyotrophic lateral sclerosis-linked SOD1 aggregation occurs by a mutation-induced increase in dimer dissociation and/or increase in apomonomer formation.

dissociation


Input: Aberrant activation of the major effector and transcription co-activator YAP in the Hippo pathway causes drastic organ enlargement in development and underlies tumorigenesis in many human cancers.

YAP

enlargement


Input: We sought to investigate the presence of the HHV 8 genome in skin lesions of LPP and early-stage sporadic, familial, and juvenile MF in patients in Israel.

LPP

sporadic


Input: Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases,' congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy.

actin myopathy

actin myopathy


Input: Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

hydroxymethylbilane synthase

acute intermittent porphyria

hydroxymethylbilane synthase

acute intermittent porphyria


Input: EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

hypomyelination with spinal muscular atrophy and cerebellar hypoplasia


Input: We used a panel of behavioral assays to assess TNFR1 (-/-) and TNFR2 (-/-) mice for anxiety and depression-like behaviors.

depression

depression


Input: Role of superoxide in hemorrhagic shock-induced P-selectin expression.

P-selectin

hemorrhagic shock


Input: Hemodialysis induces p66 (shc) gene expression in nondiabetic humans: correlations with oxidative stress and systemic inflammation.

inflammation


Input: In this study, we show that genetic and pharmacological targeting of PLD1 disrupts spontaneous and colitis-associated intestinal tumorigenesis in Apc (Min/+) and azoxymethane/dextran sodium sulfate mice models.

tumorigenesis


Input: Unexpectedly, however, in the presence of Ki16425, ascites and LPA inhibited cell migration in response to epidermal growth factor (EGF).

LPA

ascites


Input: The demonstration of loss of heterozygosity for PKD1 and the absence of immunoreactive polycystin 1 in approximately 20% of the cysts supports a two-hit tumor suppressor gene model of cystogenesis.

polycystin 1

hit


Input: The novel eosinophil chemoattractants, eotaxin and monocyte chemotactic protein (MCP)-4, are up-regulated at sites of allergic inflammation, yet their contribution to the pathophysiologic mechanisms of AD remains to be determined.

MCP

inflammation


Input: These data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS.

SHBG

insulin resistance


Input: Homozygous Cys542--& gt; Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann' s thrombasthenia.

GPIIIa

Glanzmann' s thrombasthenia

GPIIIa

Glanzmann' s thrombasthenia


Input: In human adult and fetal cardiac tissues, ischaemia induces double-strand breaks and upregulates BRCA1 expression.

ischaemia


Input: A 1. 04 ratio was found in 21q21----21 p ter monosomy; a 1. 04 and 0. 99 ratio was found in two 21 qter----21q22. 3 monosomies; a 1. 14 ratio in 21 qter----21q22 monosomy; a 0. 89 ratio in a 21q21----21 pter trisomy; an excess of CBS activity was found in a 21q22. 1----21q21 trisomy with a 1. 57 ratio.

CBS

trisomy


Input: Cancer-specific survival (CSS) was analyzed with the competing risk method, and Cox proportional hazards regression was used for the analysis of the time to recurrence (TTR).

TTR

regression


Input: A statistically significant association was found between high ARNTL2 mRNA levels and vascular invasion (P < 0. 0001), and between high SERPINE1 mRNA levels and microsatellite instability (MSI-H and MSI-L, P = 0. 025).

microsatellite instability


Input: Significant abnormalities in line hm2 alpha-SYN-39 included declines in 20S-mediated proteolytic activity, the level of the 19S proteasome subunits Rpt1 and Rpn2, and the level of soluble total high MW ubiquitin cross-reacting proteins.

abnormalities


Input: In both ulcerative colitis and controls, expanded cells were constituted largely by T-cell receptor alpha beta +, CD4 +, CD45RA-(helper), and CD8 +, CD11b-(cytotoxic) phenotypes.

ulcerative colitis


Input: Nitric oxide (NO) is synthesized by endothelial nitric oxide synthase (eNOS) and is important in regulating vascular resistance and in vascular remodeling in the lung.

endothelial nitric oxide synthase

vascular remodeling


Input: In SG611-PDCD5, 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 PDCD5 gene is controlled by the cytomegalovirus promoter.

hypoxia


Input: The expression levels of Bcl-xL mRNA and protein in high metastatic osteosarcoma cells showed higher than those in low metastatic osteosarcoma cells.

Bcl-xL

metastatic osteosarcoma


Input: These biallelic RTEL1 mutations are responsible for a major subgroup (& #8764; 29%) of HHS.

HHS

HHS


Input: Acute colitis was induced by 3. 5% dextran sulfate sodium (DSS) in drinking water for 5days and levels of cytokines and mRNA expression of TACE, TIMP-3 and SIRT-1 were measured in colon at different time intervals.

colitis

colitis


Input: Additionally, hypoxic and low-glucose stress produced no activation of stably transfected AP-1 reporter sequences.

hypoxic


Input: A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family.

coagulation factor XII

Hageman trait

coagulation factor XII

Hageman trait


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).

hemochromatosis type 4


Input: Molecular cloning of the transmembrane component of the 13762 mammary adenocarcinoma sialomucin complex. A new member of the epidermal growth factor superfamily.

epidermal growth factor

mammary adenocarcinoma


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

sporadic


Input: Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia


Input: Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.

NF2 gene

sporadic


Input: The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.

smoking


Input: We evaluated the expression of genes encoding selected inflammatory factors in post-mortem specimen of adult TS patients: interferon-γ (a cytokine released from CD8 and Thelper 1 CD4 subset of T lymphocytes), interleukin-2 (IL-2, a growth factor derived from T lymphocytes), interleukin-1 β (a cytokine involved in initiation of inflammation), monocyte chemotactic factor-1 (MCP-1, a marker of chronic inflammation) and CD45 (pan-leukocytic marker).

inflammation


Input: By Western blotting, in 7/12 cases (58%), SPHK1 expression was higher in esophageal carcinomas than in the companion normal tissue.

esophageal


Input: To date, there have been no reports on the expression of AKR1B1 in endometrial cancer, while AKR1B10 has only been studied at the cellular level.

endometrial cancer

endometrial cancer


Input: One patient with polyostotic fibrous dysplasia and one patient with the McCune-Albright syndrome were tested for the previously described GS alpha gene mutations and were found to express these mutations in bone.

alpha gene

polyostotic fibrous dysplasia


Input: Associations of smoking with breast cancer tended to be somewhat stronger among the women with the slow acetylator genotype for NAT2: when compared to those who never smoked and were rapid acetylators, the OR for ever smoking was 1. 50 (95% CI: 1. 11-2. 02) in slow acetylators, and OR: 1. 24 (95% CI: 0. 91-1. 70) in rapid acetylators.

smoking


Input: Screening for hemoglobin (Hb) Bart' s hydrops revealed 26 cases of Hb Bart' s hydrops, 67 cases of alpha-thalassemia-1 (including 6 Hb Bart' s hydrops falsely diagnosed as alpha-thalassemia-1 from chorionic villi samples), and 38 normal cases.

Bart' s

hydrops


Input: A subset of pancreatic ductal adenocarcinomas (PDACs) is characterized by EGFR gene numerical alterations including sporadic cases of amplification or absence of one allele (maybe due to gene deletion or intragenic point mutation and allelic silence).

EGFR gene

sporadic


Input: Importantly, depletion or inhibition of CTSL with vitamin D or specific inhibitors stabilized 53BP1 and increased genomic instability in response to radiation and poly (adenosine diphosphate-ribose) polymerase inhibitors, compromising proliferation.

genomic instability


Input: CAG expansions in other genes such as the alpha1 subunit of a brain-specific P/Q-type calcium channel gene cause spinocerebellar ataxia type 6, whereas the length of the CAG repeat in the RAI1 gene modifies the age of onset of spinocerebellar ataxia type 2.

RAI1 gene

spinocerebellar ataxia type 6


Input: Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.

keratin 4

white sponge nevus

keratin 4

white sponge nevus


Input: We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing.

JMP syndrome

JMP syndrome


Input: We also confirm previously reported associations between common variants of the coagulation FII, FV, FVIII, FXI, alpha-fibrinogen and protein C genes and risk of VTE.

FVIII

fibrinogen


Input: Placental expression of aminopeptidase-Q (laeverin) and its role in the pathophysiology of preeclampsia.

laeverin

preeclampsia


Input: NAC inhibited KSHV latent gene expression as well as tumor angiogenesis and lymphangiogenesis.

NAC

tumor angiogenesis


Input: URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.

renal hypouricemia

renal hypouricemia


Input: To identify a biomarker panel that elucidates ALS disease pathogenesis, distinguishes patients with ALS from neurologic disease controls, and correlates with ALS disease characteristics, and to determine the effect of HFE gene variants, a potential risk factor for sporadic ALS, on the biomarker profile.

HFE gene

sporadic


Input: Whether ERK1/2/p27 signal pathway is involved in CGRP-mediated pathogenesis of pulmonary hypertension and vascular remodeling remains unknown.

pulmonary hypertension


Input: Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

pantothenate kinase-associated neurodegeneration

pantothenate kinase-associated neurodegeneration


Input: In this study GPC3 expression in intrahepatic chanlangiocarcinoma (ICC), gallbladder cancer and HCC was quantitatively detected.

HCC

gallbladder cancer


Input: To approach this issue the present study examined BDNF secretion from brain endothelial cells in response to reduced oxygen availability (hypoxia), using the mouse brain microvascular endothelial cell line, bEnd. 3.

BDNF

hypoxia

BDNF

hypoxia


Input: Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

Septo-optic dysplasia

Septo-optic dysplasia


Input: In this study, 48 individuals who were suspected as Sotos syndrome but showing no NSD1 abnormalities were examined for NFIX mutations by high-resolution melt analysis.

abnormalities


Input: Our data suggest that mutations in SCN9A cause primary erythermalgia.

primary erythermalgia

primary erythermalgia


Input: Allele and genotype frequencies of ANP and NPRA were characterized in an Italian case-control study with patients affected by vascular disease or risk factors.

NPRA

vascular disease


Input: We believe this case is important because it questions the presence of a phenotype-genotype correlation in WNT7A mutations and because it demonstrates that the G204S mutation may be associated with both AARRS and Fuhrmann phenotypes.

AARRS

AARRS


Input: CD4 + T cells have been identified as the pathogenic T cells in colitis, which mediate inflammation by either the Th1 or the Th2 pathway.

inflammation


Input: Mild hypoxia (MH, 10% O (2)) caused hypertrophy in cultured neonatal rat cardiac myocytes, which was accompanied with increase of HIF-1α mRNA and accumulation of HIF-1α protein in nuclei.

hypertrophy


Input: These findings uncover an unexpected role for a histone methylation modifier in activating ERK1/2 in lung tumorigenesis and metastasis, suggesting that KDM2A may be a promising therapeutic target in NSCLC.

tumorigenesis


Input: Blood samples were analyzed for APOE genotype and serum fibrinogen.

APOE

fibrinogen


Input: As benign nevi also express SOX10, it cannot be used to differentiate between benign and malignant pigmented skin lesions.

nevi


Input: Treatment with CAE increased bone mass remarkably and showed a significant inhibitory effect on bone resorption by downregulating significantly the expression of RANKL in tibia of OVX rats.

RANKL

bone mass


Input: Homeostasis model assessment of insulin resistance (HOMA-IR), HOMA-B, plasma concentrations of C-peptide, CRP, fatty acid composition and the GCKR rs1260326-P446L polymorphism, were determined in a cross-sectional analysis of 379 subjects with MetS participating in the LIPGENE dietary cohort.

CRP

insulin resistance


Input: Our results show that the Tie-2 receptor pathway is essential for both SLK sarcoma and SW1222 colon carcinoma xenograft growth.

SLK

sarcoma


Input: The aim of this study was to determine whether the p53 codon 72 polymorphism confers susceptibility to systemic lupus erythematous (SLE) and rheumatoid arthritis (RA).

lupus


Input: This is in contrast to our previous observations that a distinct HNE protein adduct, the pyrrole adduct, accumulates on neurofibrillary tangles in AD patients.

HNE

neurofibrillary tangles


Input: However, when combined with a transgenic model of increased myofibrillar Ca (2 +)-sensitivity, SERCA2 haploinsufficiency caused rapid onset of hypertrophy, decompensation, and death.

hypertrophy


Input: We examined the association of ALDH2 genotypes with percentage predicted lung function (forced expiratory volume in 1 second; forced vital capacity) for age, sex, and height among 5641 older Chinese using multivariable linear regression.

vital capacity


Input: Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

type-II GM1 gangliosidosis

type-II GM1 gangliosidosis


Input: Thus, VEGFR-signaling acts as a direct growth factor for tumor cells in CAC, providing a molecular link between inflammation and the development of colon cancer.

CAC

colon cancer


Input: We showed previously that an intraperitoneal injection of replication-deficient adenovirus containing the HST-1 gene (Adex1HST-1) into normal mice caused a twofold increase in peripheral platelet count.

adenovirus


Input: While GIF and GFAP were both detected in reactive astrocytes, an increase in the GFAP relative level occurred prior to an increase in GIF relative level following the ischemia.

GIF

ischemia


Input: In the 11 metastasis lesions examined, MIA mRNA expression was apparently inversely correlated with pigmentation.

MIA

pigmentation


Input: Thus, the high level expression of hsp70 caused by gene transfection enhanced the hypoxic tolerance of coronary endothelial cell.

hypoxic


Input: These results suggest that loss-of-function variants in p53AIP1 associated with the risk of sporadic prostate cancer and further support the concept that the genetic defects in the DNA damage-response genes play an important role in the development of prostate cancer.

sporadic


Input: We report here a patient with a t (8; 17) (p11; q23) and an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) characterized by thrombocytopenia due to markedly reduced size and numbers of megakaryocytes, with elevated numbers of monocytes, eosinophils and basophils.

myelodysplastic/myeloproliferative disease


Input: The higher concentration of IFN-gamma than IL-4 in the P. endodontalis group suggested a Th1 reaction in the early stage of pulpal inflammation induced by P. endodontalis.

inflammation


Input: To determine if individuals with metabolic disorders possess unique gene expression profiles, we compared transcript levels in peripheral blood from patients with coronary artery disease (CAD), type 2 diabetes (T2D) and their precursor state, metabolic syndrome to those of control (CTRL) subjects and subjects with rheumatoid arthritis (RA).

CTRL

rheumatoid arthritis


Input: Treatment with anti-NGF significantly reduced allergic airway resistance and inflammation, up-regulated IFNγ, IL-10, TGFβ, T-bet, and Foxp3 expression, increased Th1 and Tregs, but down-regulated IL-4, TNFα, IL-17A, RORγT and GATA-3 expression and reduced Th2 and Th17 cells, accompanied by increased serum IgG2a.

inflammation


Input: We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.

CHAND syndrome

CHAND syndrome


Input: One antisense drug has been approved for local therapy of CMV (cytomegalovirus) retinitis, and a number of AS ODNs are currently being tested in clinical trials, including AS ODN targeting Bcl-2, XIAP (X-linked inhibitor of apoptosis protein) and TGF-beta-2 (transforming growth factor beta-2).

XIAP

retinitis


Input: Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.


Input: This phenotype is rarely found in BRCA2 carcinomas, which are of higher grade than sporadic age-matched controls, but tend to be estrogen receptor-and progesterone receptor-positive.

sporadic


Input: The present study was performed to examine the CD133 expression in colorectal cancer and to analyze its relationship with microsatellite instability (MSI) and the clinicopathological factors, including patient survival.

microsatellite instability


Input: And the definition of asthma subgroup meta-analysis demonstrates that the IL-4 C-33T is not associated with nonatopic or atopic, and IL-4 C-589T and IL-13 C-1112T polymorphisms are not associated with atopic.

atopic


Input: We recently reported that the expression of dbpA (DNA binding protein A) is associated with advanced stages of human hepatocellular carcinoma (HCC) and that its transcription is positively regulated by E2F1, which is also implicated in hepatocarcinogenesis.

dbpA

hepatocellular carcinoma


Input: These mutations are associated with chronic hepatitis, cirrhosis and Hepato Cellular Carcinoma (HCC).

HCC

chronic hepatitis


Input: The activity of SOD, GSH-Px, CAT, concentrations of erythrocyte and plasma Se, Cu, Zn were lower in children with ESRD than in controls.

CAT

ESRD

CAT

ESRD


Input: CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities.

CAMOS

Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities

CAMOS

Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities


Input: We have conducted this case-control study to assess the role of smoking, slow NAT2 variants, and GSTM1 and GSTT1 null genotypes in bladder cancer development in North Tunisia.

smoking


Input: Epigenetic inactivation of the metastasis suppressor RECK enhances invasion of human colon cancer cells.

RECK

colon cancer

RECK

colon cancer


Input: Our findings reinforce the role of astroglial cells in the pathogenesis of bipolar disorder and S100B protein as a marker of bipolar mania.

mania

mania


Input: Characterization of arginase 1 gene polymorphisms in the Algerian population and association with blood pressure.

arginase 1

blood pressure


Input: Male B27 (+) NP1 (+) rats had a significantly reduced prevalence of arthritis, compared with B27 (+) NP-males or B27 (+) males with a control construct, NP2, whereas colitis was not significantly affected by the NP1 transgene.

colitis


Input: Up-regulation of calcyon and NCS-1 in the second schizophrenia cohort strengthens the proposition that abnormalities of the dopamine system in this disease may lie in altered levels of dopamine receptor-interacting proteins.

schizophrenia

schizophrenia


Input: We studied factor (F) VIII deficient individuals (11 mild, 4 moderate and 12 severe) with a well-characterized 5-year bleeding history that included haemarthrosis, soft tissue haematoma and annual FVIII concentrate usage.

VIII

haematoma


Input: The percentage of MIF expressing epithelial cells was low in normal mucosa (12%) but substantially higher in gastritis (52%), intestinal metaplasia (66%), and gastric cancer (96%) (p < 0. 001, ANOVA).

MIF

gastric cancer


Input: To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.

bone mass


Input: The effects of microinjection bilaterally into CA3 area of a PPARγ agonist, rosiglitazone or a PPARγ antagonist, GW9662 on UCP2 expression, induced superoxide anion (O (· 2) (-)) production, oxidized protein level, mitochondrial respiratory chain enzyme activities, translocation of Bcl-2, Bax and cytochrome c, and DNA fragmentation in bilateral CA3 subfields were examined.

PPARγ

translocation


Input: Our data show that the lack of c-kit is permissive for the development of mammary tumor in Ws/Ws rats treated with carcinogen.

c-kit

mammary tumor


Input: BMC transplantation reduced post-infarction fibrosis, improved neovascularization, and increased proliferation, while all these effects in repairing the failing myocardium were eliminated by HMGB1-inhibition.

fibrosis


Input: A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.

BHC

BHC


Input: Depletion of myeloma plasma cells was confirmed using a cellular limiting dilution assay followed by reverse transcriptase-polymerase chain reaction analysis of clonotypic IgH transcripts, which showed a greater than 3 log reduction in clonotypic myeloma cells after SLT-1 treatment.

SLT

myeloma


Input: The other de novo mutation, SCN2A-I1473M, was identified in a patient with sporadic neonatal epileptic encephalopathy.

sporadic


Input: A novel homozygous missense mutation c. 1366C & gt; G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.

infantile onset spinocerebellar ataxia

infantile onset spinocerebellar ataxia


Input: In this review, we discuss DNA repair mechanisms and strategies used to target them in oncology, our current experience with PARP inhibition in BRCA1 and BRCA2-mutation associated and sporadic ovarian cancer, as well as current issues in the clinical development of these agents.

sporadic


Input: Here we show that glucocorticoids suppress bacteria-induced inflammation by enhancing IRAK-M, a central negative regulator of Toll-like receptor signalling.

IRAK-M

inflammation


Input: These results suggested that genetic polymorphism of GGT may link with the induction of GGT by alcohol drinking, and consequently link with the development of alcoholic liver and pancreatic diseases.

GGT

alcohol drinking


Input: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A.

JP

JP


Input: Furthermore, suppression of inflammatory response by p53 was observed in vivo in mice by comparing wild-type and p53 null animals at molecular (inhibition of transcription of genes encoding cytokines and chemokines, reducing accumulation of reactive oxygen species and protein oxidation products), cellular (activation of macrophages and neutrophil clearance) and organismal (high levels of metabolic markers of inflammation in tissues of p53-deficient mice and their hypersensitivity to LPS) levels.

hypersensitivity


Input: The serum free IGF-II levels were significantly higher in HCC than those in chronic hepatitis or liver cirrhosis.

HCC

chronic hepatitis


Input: Systematic administration of GLI2 ASO in athymic mice significantly delayed PC-3 tumor progression and enhanced paclitaxel chemosensitivity.

tumor progression


Input: The appropriate shock-free survival rate was also significantly lower in patients with SCN5A mutations than in those without (28. 6% vs 83. 3% at 1 year, P = 0. 040).

shock


Input: This study suggested that SCN1A mutations are probably not associated with benign convulsions with mild gastroenteritis.

mild


Input: We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipodystrophy R482W mutation of lamin A in C2C12 cells on transcription and epigenetic regulation of the myogenin (Myog) gene and on global chromatin organization.

Myog

partial lipodystrophy


Input: PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

infantile neuroaxonal dystrophy

infantile neuroaxonal dystrophy


Input: Gene knockout technology provides an important tool in target validation and indicates that the CB1 receptor is the main cannabinoid target for an anti-spastic effect.

spastic

spastic


Input: This study examined JPH203, a potent and selective L-type amino acid transporter 1 inhibitor, and its ability to suppress YD-38 human oral cancer cell growth.

L-type amino acid transporter 1

oral cancer


Input: Genetic ablation of the IFN-αβ receptor (IFNAR) or IMM depletion protects mice from lethal infection, without affecting viral load.

IFNAR

viral load


Input: While SFRP4, FZD4, FZD6, DVL1, TCF4, and MYC are up-regulated, WIF1, WNT2, PPP2CB, CCND2, and CD44 are down-regulated in certain prostate cancer patients.

prostate cancer


Input: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

IKBKAP

familial dysautonomia

IKBKAP

familial dysautonomia


Input: Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

Holt-Oram syndrome

Holt-Oram syndrome


Input: The patients with major depression exhibited significantly higher haptoglobin plasma levels than the healthy comparison subjects and the patients with minor depression.

haptoglobin

major depression

haptoglobin

major depression


Input: FKBP5 rs3800373 genotype was analyzed for association to several outcomes, including nicotine withdrawal and the acute subjective, heart rate (HR), blood pressure and plasma cortisol responses to IV nicotine.

heart rate


Input: Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.

hemihypertrophy

hemihypertrophy


Input: The EMSY gene encodes a protein that interacts with Brca2 and is amplified in some sporadic cases of human breast cancer.

sporadic


Input: Upregulation of cyclooxygenase-1 and the PGE2 receptor EP2 in rat and human mesangioproliferative glomerulonephritis.

glomerulonephritis


Input: Further, hCDR1 reduced, in vitro, IFN-α gene expression in peripheral blood mononuclear cells (PBMC) of 10 lupus patients (74% inhibition compared to medium, p = 0. 002) but had no significant effects on the expression levels of IFN-α in PBMC of primary anti-phospholipid syndrome patients or of healthy controls.

IFN-α

anti-phospholipid syndrome


Input: The effect of in vivo targeting of NRP2 by small interfering RNA (siRNA) on the growth of hepatic colorectal tumors derived from luciferase-expressing HCT-116 cells was assessed by measuring changes in bioluminescence and final tumor volumes.

colorectal tumors


Input: Our results help explaining the pathological adhesion of Schwannoma cells, further strengthen the importance of RhoGTPase signaling in Schwannoma development, and suggest that merlin' s role in tumor suppression is linked to focal contacts.

merlin' s

adhesion


Input: The correlation was analyzed between the expression of MR-1 and other tumor characteristics which may influence the prognosis of gastric cancer patients.

gastric cancer


Input: We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM * 190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM * 188770).

MIM

triphalangeal thumb-polysyndactyly syndrome


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

peroxiredoxin I

keloid

peroxiredoxin I

keloid


Input: The results showed significant allelic and haplotypic associations between LSAMP gene and schizophrenia.

LSAMP

schizophrenia

LSAMP

schizophrenia


Input: Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders.

abnormalities


Input: Thus, the present study examined the effect of GLP-1 (9-36) on chemokine-induced CD4-positive lymphocyte migration as one of the early and critical steps in atherogenesis.

atherogenesis


Input: AIM: To evaluate the influence of the vascular endothelial growth factor A (VEGFA) polymorphisms on risk of presentation with intracerebral hemorrhage (ICH).

AIM

intracerebral hemorrhage


Input: LMP1 expression induced marked homotypic adhesion in the BJAB cell line, despite the fact that there was no significant increase in the high constitutive BJAB LFA-1 and ICAM-1 levels, suggesting that LMP1 also induces an associated functional change in these molecules.

adhesion


Input: Besides, pre-incubation with p38 mitogen-activated protein kinases (MAPK) inhibitor SB203580, C-Jun NH2-terminal protein kinases (JNK) inhibitor SP600125 and proteosome inhibitor MG-132 could significantly restrain the effects of IL-25 on surface expression of L-selectin, ICAM-1 and ICAM-3, respectively, and also on the adhesion of eosinophils onto fibronectin (all P < 0. 05).

adhesion


Input: This study examines decision making on the SGT in young adults with alcohol dependence who are treatment-naive (TxN).

SGT

alcohol dependence


Input: Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25. 4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c. 707G & gt; C, p. Arg236Thr) in EED (individual 2), and a missense mutation (c. 1829A & gt; T, p. Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.

EED

WS

EED

WS


Input: In 289 & #160; patients with T3-4 (77. 8%), node-negative (84. 1%) tumors of the larynx, high EGFR and CCND1 mRNA correlated with no or ex-smoking, (p & #8201; = & #8201; 0. 003 and p & #8201; = & #8201; 0. 029, respectively), while low Akt3 mRNA correlated with alcohol abuse, N0 stage, total laryngectomy, and absence of neck dissection.

EGFR

alcohol abuse

EGFR

alcohol abuse


Input: This study investigated the therapeutic effects of selective cyclooxygenase (COX) inhibitor on hepatic encephalopathy in thioacetamide-induced fulminant hepatic failure (FHF) rats.

COX

hepatic encephalopathy


Input: Taken together, the data demonstrate that activation of Src-kinase signalling is crucial for PV acantholysis and acts, at least in part, via phosphorylation of the adaptor protein Pkp3.

acantholysis


Input: Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5.


Input: The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on human chromosome 11q13.


Input: The response of A2aR-/-mice to acute pain stimuli was slower.

acute pain


Input: After CD8 T-cell depletion, viremia increased and CD4 T cells decreased in all animals except the Rx-6h group.

viremia


Input: Patients with rheumatoid arthritis (RA) have a systemic Th1 defect associated with inflammation.

inflammation


Input: Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.

BLK

maturity onset diabetes of the young

BLK

maturity onset diabetes of the young


Input: The aim of this study was to clarify the relationship between the epithelial-mesenchymal transition (EMT) and LOX in gastric cancer cells under hypoxia.

LOX

hypoxia


Input: In conclusion, this study showed no association between bone mass parameters (BMD, speed of sound (SOS), broadband ultrasound attenuation (BUA)), hip or lower forearm fracture and APOE genotypes in a population of postmenopausal women and age-matched controls.

APOE

bone mass


Input: We used categorical methods and logistic regression models to evaluate the individual and combined associations of CYP2D6 and GSTM1 polymorphisms with dysmenorrhea and its subgroups, occasional (N = 70) and recurrent (N = 59), with adjustment for age, education, occupation, passive smoke exposure, age of menarche, parity, contraceptive method, height, and body mass index.

body mass index


Input: Exons encoding the CKIepsilon and CKIdelta regulatory domains were sequenced from DNA obtained from individuals with adenomatous polyps and a family history of colon cancer unaffected by familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer (HNPCC).

CKIepsilon

hereditary nonpolyposis colorectal cancer


Input: We previously found LOXL4 to be alternatively spliced in an anatomic site-specific manner in tumors involving the serosal cavities.

cavities


Input: The HLA-B27 transgenic rat, a model of spondyloarthritis, has decreased bone mineral density and increased RANKL to osteoprotegerin mRNA ratio.

RANKL

bone mineral density


Input: We identified new regions showing association (combined P < 5 × 10 (-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2.

pulmonary function


Input: Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive.

hydroxymethylbilane synthase

acute intermittent porphyria

hydroxymethylbilane synthase

acute intermittent porphyria


Input: Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families.

PBGD

AIP

PBGD

AIP


Input: The meta-analysis showed that the 1858C/T polymorphism of the PTPN22 gene is correlated with systemic lupus erythematosus susceptibility, when assessed by distribution characteristics such as nationality, race, and region.

systemic lupus erythematosus

systemic lupus erythematosus