Input: In multivariate analysis, melanoma AIM1 methylation status was a significant prognostic factor of OS (P = 0. 032).

melanoma

melanoma


Input: In summary, HDMX exhibits bona fide oncogenic properties and offers a promising molecular target for GBM therapeutic intervention.

HDMX

GBM

HDMX

GBM


Input: Targeting of the statin-binding site of LFA-1 could be used to treat diseases such as psoriasis, rheumatoid arthritis, ischemia/reperfusion injury and transplant rejection.

transplant rejection


Input: Therefore, JAK2 inhibitors, by virtue of their near equipotent activity against wild-type JAK2 that is important for normal hematopoiesis, may have adverse myelosuppression as an expected side effect, if administered at doses that aim to completely inhibit the mutant JAK2 enzyme.

myelosuppression


Input: Predicted 10-year HCC risk ranged from 1. 7% to 96% depending on the risk group and the extent of fibrosis.

HCC

fibrosis


Input: We herein provide the first evidence supporting the critical involvement of the SKP2-p27 (KIP1) axis in sulforaphane-induced antiproliferation in various human colon adenocarcinoma cell lines.

colon adenocarcinoma


Input: The presence of mRNA coding for HPRT, IL-6, IL-1beta, IL-8, and TNFalpha was investigated in 20 vitreous and subretinal fluid (SRF) samples from patients with PVR by reverse transcriptase polymerase chain reaction (RT-PCR).

HPRT

subretinal fluid


Input: We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.

hypochondroplasia

hypochondroplasia


Input: CSF miR-16 is decreased in major depression patients and its neutralization in rats induces depression-like behaviors via a serotonin transmitter system.

major depression

major depression


Input: Using a reverse-transcriptase PCR, the expression of IL-10 and IFN-gamma in cells from lymph and from blister fluid was examined.

blister


Input: The most important causal gene for classical PDB is Sequestosome 1 (SQSTM1), which is a scaffold protein in the NF-kappaB signalling pathway, and mutations affecting the UBA (ubiquitin-associated) domain of this protein occur in between 20-50% of familial and 10-20% of sporadic PDB cases.

NF-kappaB

sporadic


Input: We conclude that NKCC1 influences blood pressure through effects on smooth muscle tone in resistance vessels and that this effect is augmented in hypertension.

hypertension

hypertension


Input: There was no relationship between XRCC1 and HPV16-related HNSCC, regardless of smoking.

smoking


Input: Importantly, we found that the effects of CD40L can be transmitted between HUVECs and monocytic THP1 cells through intercellular CD40-CD40L interaction and these processes are augmented under hypoxia.

hypoxia


Input: Using the MSP assay, we examined the methylation status of IGFBP-3 in gastric cancer (GC), colorectal cancer (CRC), breast cancer (BC) and malignant mesothelioma (MM).

MSP

mesothelioma


Input: During both permanent and transient myocardial ischemia, Trem-1 blockade also ameliorates cardiac function and limits ventricular remodeling as assessed by fluorodeoxyglucose-positron emission tomographic imaging and conductance catheter studies (n = 9-18 per group).

ventricular remodeling


Input: PIK3CA mutations occur at high frequency in primary and metastatic breast cancer; these may not necessarily confer increased aggressiveness as mutants had a longer time to recurrence.

aggressiveness


Input: The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Vici syndrome

Vici syndrome


Input: Overall, our findings demonstrate that WASP has a role in orthopoxvirus infections.

WASP

infections


Input: In this study, we found that transient Mad2 overexpression is sufficient to cause early dyscrasia and decreased survival in a xenotransplantation osteosarcoma mouse model, and Mad2 overexpression is associated with increased invasiveness and pulmonary metastasis.

pulmonary metastasis


Input: Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities.

RPE

retinal degeneration


Input: As FANCF is localized in a hot-spot region for somatic hypermethylation (11p15), FANCF silencing might be an early step in sporadic carcinogenesis, including leukaemogenesis.

FANCF

sporadic


Input: Therefore, tRA treatment and NIS gene transfection are potential tools for the diagnosis and treatment of thyroid cancer.

NIS

thyroid cancer

NIS

thyroid cancer


Input: Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities.

PTPRs

ependymal tumors


Input: A novel EWSR1-PBX1 fusion gene consisting of exons 1-8 of the 5'-end of EWSR1 and exons 5-9 of the 3'-end of PBX1 was shown to result from the translocation.

translocation


Input: Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Menkes disease

Menkes disease


Input: Using a weighted regression analysis implemented in the program SCORE-Seq, we found a rare variant constellation across the entire NKAIN1-SERINC2 region that was associated with alcohol dependence in European-Americans (Fp: overall, P = 1. 8 & #215; 10 (-4); VT: overall, P = 1. 4 & #215; 10 (-4); Collapsing, P = 6. 5 & #215; 10 (-5)) and European-Australians (Fp: overall, P = 0. 028; Collapsing, P = 0. 025), but not in African-Americans, and not associated with any other disorder examined.

alcohol dependence

alcohol dependence


Input: Mutations in the HSD17B3 gene cause 17betaHSD3 deficiency and result in XY sex reversal of varying degree.

HSD17B3 gene

sex reversal


Input: Signaling via RANKL into the leukemia cells stimulated their metabolic activity and induced the release of cytokines involved in AML pathophysiology.

RANKL

leukemia


Input: The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.

tumor angiogenesis


Input: These findings broaden the phenotype associated with p. R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.

TPS

TPS


Input: Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).

PTEN

HBOC

PTEN

HBOC


Input: In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed.

BRCA2 gene

ovarian cystadenoma


Input: Four days after 2', 3'-dideoxycytidine administration, rats had developed thermal allodynia as well as mechanical hyperalgesia and allodynia, which dose-dependently decreased after epidural injection of MDL 11, 939, a 5-HT2A receptor antagonist.

thermal allodynia

thermal allodynia


Input: In contrast, the VEGF-GL mice, which were crossed with mouse mammary tumor virus-polyoma virus middle T antigen transgenic mammary tumor mice, exhibited prominent bioluminescence in the tumors, correlating with VEGF transcription.

VEGF

mammary tumor


Input: These data suggest that fosB gene products have a potential to regulate mood disorder-related behaviors.

fosB

mood disorder

fosB

mood disorder


Input: Percentages of CD4 (+) Foxp3 (+) lymphocytes were compared for patients with inactive vs active disease, systemic vs ocular diagnoses, and the presence or absence of cystoid macular edema.

cystoid macular edema


Input: Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity.

HARP

SIOD

HARP

SIOD


Input: ITIM-KIR expression by PB NK cells was significantly and similarly greater than ITAM-KIR expression in women with and without endometriosis.

KIR

endometriosis


Input: Furthermore, HoxD10 expression in highly invasive breast cancer cells resulted in an increased miR-7 expression but reduced Pak1 3'-UTR-luciferase activity and reduced Pak1 protein.

invasive breast cancer


Input: DARPP-32 (dopamine and adenosine 3', 5'-monophosphate-regulated phosphoprotein, 32 kDa) is an important component of dopaminergic function in brain areas thought to be important for drug and alcohol addiction.

alcohol addiction

alcohol addiction


Input: We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene.

CYLD

MFT

CYLD

MFT


Input: CASPASE-1 mRNA and the proportion of T (h) 1 transcripts (TBX21/CD3 & #603;) were significantly higher in AT from obese compared with lean subjects.

obese

obese


Input: Our results indicate that the polymorphisms at C-509T and T869C of the TGF-beta (1) gene are associated with asthma susceptibility in atopic subjects of the Hong Kong Chinese population, and the C-509T polymorphism may play a role in the pathogenesis of airflow obstruction.

TGF-beta

asthma susceptibility


Input: Sixty-five stroke patients with a history of heavy drinking (HDS) and 83 stroke patients without such a history (NHDS) were recruited for analysis of the ADH1B and ALDH2 genotypes from the stroke registry in the Tri-Service General Hospital, Taipei, Taiwan, between January 2000 and December 2001.

HDS

stroke


Input: Immunopathological and chemokine analysis during the acute phase revealed that there were marked macrophage infiltration with myocyte necrosis and up-regulation of MCP-1 and IFN-gamma-inducible protein-10 (IP-10).

necrosis


Input: Plasma insulin and glucose concentrations and indices of insulin secretion (IGI) and sensitivity (ISI) were measured using an oral glucose tolerance test (OGTT) in 387 obese children aged 12 +/-0. 1 yr with a mean body mass index (BMI) of 30. 6 kg/m (2) (161% of the normal mean).

IGI

obese


Input: We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3.

congenital heart defects


Input: Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome.

RHYNS syndrome

RHYNS syndrome


Input: The expression of IP-10 mRNA correlated with lobular necroinflammatory activity but not with inflammation or fibrosis in the portal tracts.

fibrosis


Input: IDO expression was observed in some macrophages of the tumor stroma of nasopharyngeal carcinoma (NPC) tissue, and IDO could be induced in Epstein-Barr virus (EBV)-infected human monocyte-derived macrophages (MDMs).

IDO

nasopharyngeal carcinoma


Input: Here, we report the translocation, t (6; 14) (p22; q32), involving IGH @as a novel recurrent translocation in 13 BCP-ALL patients.

BCP

translocation


Input: Furthermore, we have demonstrated a clear dissociation of the effects of E2 and EGF on IGF-I expression in this cell line.

IGF-I

dissociation


Input: The objective of the present study was to investigate the effects of heat stimulation and glutamine (Gln) on the expression of extracellular matrix genes and heat shock protein 70 (HSP70) in rat articular cartilage in vivo and to determine whether HSP70 expression achieved with a combination of microwave (MW) and Gln suppresses osteoarthritis (OA) progression in a rat OA model.

shock


Input: Thus, our results suggest that various ocular tissues up-regulate the expression of Crry and CD59 to avoid self-injury during autoimmune uveitis and that these CRPs play an active role in the resolution of EAAU by down-regulating complement activation in vivo.

self-injury


Input: Contrary to what observed for public anti-Melan-A T-cell receptor alpha motifs, which had been identified in several clonotypes of both melanoma patients and healthy controls, the unexpectedly high contribution of a public TRB motif in the recognition of a dominant melanoma epitope in melanoma patients may provide important information about the biology of anti-tumor T-cell responses and improve monitoring strategies of anti-tumor vaccines.

TRB

melanoma


Input: Taken together, the results indicate that autophagy regulating gene, beclin1, can be a potential target for lung cancer gene therapy.

lung cancer

lung cancer


Input: Although both SCCRO and PIK3CA may play a role in the pathogenesis of oral tongue SCC through amplification at 3q26, SCCRO appears to be a significant predictor of regional metastasis and may be a marker for tumor aggressiveness and clinical outcome.

aggressiveness


Input: In benign soft-tissue tumors, 1 chemodectoma and 1 neurothekeoma showed low MRP expression; however, no case showed co-expression of MRP and MDR1.

MRP

neurothekeoma


Input: These fatal consequences of Stra6 deficiency, including craniofacial and cardiac defects and microphthalmia, were largely alleviated by reducing embryonic Rbp4 levels by morpholino oligonucleotide or pharmacological treatments.

microphthalmia


Input: Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.

NCC

asymptomatic


Input: Histological inflammation was scored, and HNE, elafin, and SLPI were localized and semiquantified by immunostaining in 51 colonic paraffin sections (23 CD, 11 UC, 17 controls).

elafin

inflammation


Input: No correlation was found between the ERα methylation and age and menopausal status, while it was significantly associated with lymph node metastasis, tumor stage, nuclear p53 accumulation, and BRCA-1 and BRCA-2 expression in sporadic BLBC.

sporadic


Input: Mechanistically, 14-3-3ζ bound to the p85 regulatory subunit of PI3K and increased PI3K translocation to the cell membrane.

translocation


Input: POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy.

POLG

painful


Input: ¹⁸F-FDG uptake on PET is a predictive marker of thymidylate synthase expression in patients with thoracic neoplasms.

FDG

thoracic neoplasms


Input: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

microcephalic

microcephalic


Input: Sera of 64 CU patients (22 ASST + CU and 42 ASST-CU) and 10 healthy subjects were tested for their ability to induce basophil CD63 expression when incubated with whole blood of both atopic (DA) and non-atopic donors (DNA).

atopic


Input: The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia.

CASR

apathy


Input: Carpenter-Waziri syndrome results from a mutation in XNP.

XNP

Carpenter-Waziri syndrome

XNP

Carpenter-Waziri syndrome


Input: The C allele at IL-6-174 position is associated with increased insulin sensitivity, and has a protective role for the development of type 2 diabetes, in a Spanish study.

insulin sensitivity


Input: On chow, hepatic PGC-1beta overexpression caused severe combined hyperlipidemia including elevated plasma apolipoprotein B levels.

PGC

hyperlipidemia


Input: To examine whether GCS is a target for cancer therapy, we have designed and tested the effects of antisense oligodeoxyribonucleotides (ODNs) to GCS on gene expression and chemosensitivity in multidrug-resistant cancer cells.

GCS

resistant cancer


Input: Analysis of serial samples from individual patients with methylation positive HCC revealed that loss of p16 expression with promoter methylation occurred in 18 of 20 patients at the stage of chronic hepatitis without clinically detectable carcinoma.

HCC

chronic hepatitis


Input: After adjusting for age, gender, body mass index, and polygenic correlations within pedigrees, SNP hcv1137534 was significantly associated with both systolic blood pressure and diastolic blood pressure (DBP) at baseline (unadjusted P = 0. 009 and P = 0. 043; respectively) and at 10-year follow-up (P = 0. 008 and P = 0. 007; respectively).

DBP

systolic blood pressure


Input: Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3. 44 Ã  10 (-4)) than postural instability and gait difficulty (PIGD) cases (P = 6. 06 Ã  10 (-2)).

ARNTL

postural instability


Input: Gadd45b is abnormally expressed in subjects with autism and psychosis, two disorders associated with cognitive deficits.

psychosis

psychosis


Input: In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract.

SPD

SPD


Input: Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

beta fibrinogen

congenital afibrinogenemia

beta fibrinogen

congenital afibrinogenemia


Input: In further studies we show that despite the above abnormalities, CVI B cells are induced to express normal or near-normal levels of C mu, C gamma, and C alpha mRNA after 7 days of stimulation with anti-CD40 and IL-10.

abnormalities


Input: Using a mouse model for multiple sclerosis, here we show that B10-cell maturation into functional IL-10-secreting effector cells that inhibit in vivo autoimmune disease requires IL-21 and CD40-dependent cognate interactions with T cells.

autoimmune disease


Input: In sporadic intestinal adenocarcinomas with strong p53 immunostaining (mutated TP53), ACSL5-related mortalin expression was heterogeneous.

sporadic


Input: Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.

esophageal cancer

esophageal cancer


Input: Resveratrol preconditioning protects hepatocytes against hepatic ischemia reperfusion injury via Toll-like receptor 4/nuclear factor-& #954; B signaling pathway in vitro and in vivo.

Toll-like receptor 4

ischemia reperfusion injury

Toll-like receptor 4

ischemia reperfusion injury


Input: However, apparently normal C/EBPalpha is overexpressed in BCP-ALL harbouring the translocation t (14; 19) (q32; q13).

BCP

translocation


Input: The results of our study of Turkish prostate cancer patients suggest that mutation of the MnSOD gene may be an important risk factor for prostate cancer.

MnSOD

prostate cancer

MnSOD

prostate cancer


Input: Secreted phospholipases A2 (sPLA2) are suggested to play an important role in inflammation and tumorigenesis.

inflammation


Input: To explain these anomalies, we propose a model of RER + carcinogenesis based on the simple idea that the RER mutator phenotype has only short-term viability in normal cells.

RER

carcinogenesis


Input: In ER + cancer (n = 189), a high nuclear BAG-1 expression independently predicted improved outcome for local recurrence (P = 0. 0464), distant metastases (P = 0. 0435), death from breast cancer (P = 0. 009, hazards ratio 0. 29, 95% CI: 0. 114-0. 735) and improved outcome in tamoxifen-treated patients (n = 107; P = 0. 0191).

breast cancer

breast cancer


Input: This is the first report of a homozygous BLVRA inactivating mutation indicating that the complete absence of BVR & #945; activity is a non-lethal condition, the most evident phenotypic characteristic of which is the appearance of green jaundice accompanying cholestasis episodes.

BVR

green jaundice

BVR

green jaundice


Input: Germ-line mutations in the BRCA1 tumor suppressor gene predispose to early onset breast cancers with a distinct phenotype characterized by high tumor grade, aneuploidy, high proliferation rate, and estrogen receptor-negativity.

aneuploidy


Input: Our findings show that abnormalities in the GHRH/GH axis underlie both growth retardation and SWS-disorder UAO.

GHRH

abnormalities


Input: In control subjects hyperinsulinaemia caused an unchanged GFR in both groups, increased RPF in the lean control group and 15-25% reduction in sodium excretion.

GFR

hyperinsulinaemia


Input: First, with the Principle Component analysis, six proteins, CYP2E1, FAM25, CA3, BHMT, HIBADH and ECHS1, involved in oxidation reduction, energy and lipid metabolism and amino acid metabolism, were identified as the most differentially expressed gene products across all of the experimental conditions of our chronic alcoholism model.

chronic alcoholism

chronic alcoholism


Input: High p130cas expression was associated with advanced tumor stage (P <. 001) and higher residual disease (> 1 cm) following primary cytoreduction surgery (P =. 007) and inversely associated with overall survival and progression-free survival (median overall survival: high p130cas expression vs low expression, 2. 14 vs 9. 1 years, difference = 6. 96 years, 95% confidence interval = 1. 69 to 9. 48 years, P <. 001; median progression-free survival: high p130cas expression vs low expression, 1. 04 vs 2. 13 years, difference = 1. 09 years, 95% confidence interval = 0. 47 to 2. 60 years, P =. 01).

residual disease


Input: Breast cancer is a rare disease in men. Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases.

Breast cancer

Breast cancer


Input: Upregulation of adhesion molecules on leukemia targets improves the efficacy of cytotoxic T cells transduced with chimeric anti-CD19 receptor.

adhesion


Input: Echocardiographic and CMR imaging signs of diastolic dysfunction with preserved systolic function were identified in 12-week-old Mypn (WT/Q526X) mice.

Mypn

diastolic dysfunction


Input: The TOP-PUMA adenovirus inhibited cell growth in a dose-dependent fashion, depending on the signaling activity of beta-catenin.

TOP

adenovirus


Input: A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550). She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography.

MIM

spondyloperipheral dysplasia


Input: Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c. 1550G & gt; A, c. 1565G & gt; A, c. 1970T & gt; C, c. 2096T & gt; C, c. 2254T & gt; A, c. 2288G & gt; C, and c. 2311C & gt; T, corresponding to p. G517E, p. G522E, p. L657P, p. I699T, p. C752S, p. C763S, and p. R771C, all of which were predicted pathogenic by in silico analysis.

HSAN IV

HSAN IV


Input: Amplification or overexpression of the HER-2/neu gene in breast cancers is associated with aggressive behavior and resistance to therapeutic regimens.

neu gene

aggressive behavior


Input: Together, these findings support that the reported translocation-associated phenotypes are " cis-ruption " and TRPS1 overexpression related, the latter most probably caused by the novel enhancer element in the TRPS1 5' region.

translocation


Input: Inherited diseases of excitation-contraction coupling and muscle relaxation such as malignant hyperthermia, central core disease, hypokalemic periodic paralysis or Brody disease are caused by mutations in these Ca2 +-regulatory elements.

malignant hyperthermia


Input: It is therefore suggested that SEMA3C signaling, propagated through the heterodimer receptor plexin-D1/neuropilin, is important for truncus arteriosus septation.

truncus arteriosus

truncus arteriosus


Input: In 3 thyroid cancer cell lines (TPC1 from a papillary thyroid cancer, FTC133 from a follicular thyroid cancer, XTC1 from a Hürthle cell carcinoma), small interfering RNA knockdown of RTN4IP1 was used to determine its role in regulating the hallmarks of malignant cell phenotype (cellular proliferation, migration, apoptosis, invasion, tumor spheroid formation, anchorage independent growth).

carcinoma


Input: In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.

STS

insulin sensitivity

STS

insulin sensitivity


Input: The methylenetetrahydrofolate reductase gene variant C677T influences susceptibility to migraine with aura.

methylenetetrahydrofolate reductase gene

aura


Input: The expression patterns of two members of the Wnt pathway, Wnt5b and secreted frizzled related protein (sFRP) 1, were evaluated in myometrial SMC (n = 22) and in leiomyoma cells (n = 27) by real-time quantitative PCR.

SMC

leiomyoma


Input: Along with the lack of allelic loss at the PRKAR1A locus in most of the tumors from this kindred, these data suggest that alteration of PRKAR1A function (not only its complete loss) is sufficient for augmenting PKA activity leading to tumorigenesis in tissues affected by CNC.

tumorigenesis


Input: Here, we examine intestinal metaplasia in molecular terms, noting the over-expression of Cdx1, Cdx2, Pdx1, Oct1, TFF3 and the downregulation of Hedgehog signalling; Runx3 is deactivated by epigenetic silencing, and pathways such as Wnt and MARK/ERK are involved.

MARK

intestinal metaplasia


Input: [Association of Gln223Arg variant in leptin receptor gene with metabolic abnormalities and hypertension in type II diabetes mellitus in Shanghai " Han " population].

leptin receptor gene

abnormalities


Input: Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

T gene

familial hypertrophic cardiomyopathy


Input: We propose to further explore an integrated program, incorporating TPO with other protocols, for treatment of DOX-induced cardiotoxicity and other forms of cardiomyopathy.

TPO

cardiomyopathy

TPO

cardiomyopathy


Input: The present study was undertaken to carry out a methodical prospective search for the prevalence of pruritus in CJD patients and investigate its anatomical substrate by MRI.

MRI

pruritus


Input: DIO mice exhibited significant increases in body weight, plasma glucose, insulin, and insulin-like growth factor 1 (IGF1) levels and intestinal Igf1 mRNA.

body weight


Input: This may result from chronic apoptotic stress and provoke adaptations, including increases in UCP-2, that potentiate necrosis.

UCP

necrosis


Input: We hypothesized that Fox expression is altered in the lungs of the nitrofen-induced CDH rat model and investigated the expression of FoxF1, FoxC2, and FoxO1.

CDH

CDH


Input: We studied the expression of IDE protein in postmortem brains of patients with schizophrenia and controls because: (1) the gene encoding IDE is located on chromosome 10q23-q25, a gene locus linked to schizophrenia; (2) insulin resistance with brain insulin receptor deficits/receptor dysfunction was reported in schizophrenia; (3) the enzyme cleaves IGF-I and IGF-II which are implicated in the pathophysiology of the disease; and (4) brain gamma-endorphin levels, liberated from beta-endorphin exclusively by IDE, have been reported to be altered in schizophrenia.

IDE

insulin resistance


Input: Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis.

factor VII

peripheral pulmonary artery stenosis


Input: Possible involvement of IMPase in complex behaviors related to affective disorders was assessed by monitoring the behavior of the IMPA2 (-/-) mice in the forced swim test, the tail suspension test (TST), the elevated zero-maze and open field test.

TST

affective disorders


Input: Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

fumarylacetoacetate hydrolase

tyrosinemia, type I

fumarylacetoacetate hydrolase

tyrosinemia, type I


Input: To determine whether neurosteroidogenesis might be involved in the pivotal role played by the DH in nociception, effects of neurogenic pain provoked by sciatic nerve ligature were investigated on P450scc expression, cellular distribution, and activity in the SC.

neurogenic pain


Input: We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.

glutaryl-CoA dehydrogenase

glutaric acidemia type I

glutaryl-CoA dehydrogenase

glutaric acidemia type I


Input: We found that the mRNA expression of TLR3 and TLR4 was significantly increased in DLPFC of depressed suicide victims and in depressed non-suicide subjects, compared with controls.

suicide


Input: NF-κB-induced IL-6 ensures STAT3 activation and tumor aggressiveness in glioblastoma.

aggressiveness


Input: The present study demonstrated for the first time the potential antitumor activity of IFN-α combined with the oncolytic adenovirus SG600-IL-24 in HCC both in vitro and in vivo, and suggests its further development as a potential candidate for HCC cancer gene therapy.

HCC

adenovirus


Input: Considering neoplastic tissues, loss of nuclear p33 (ING1b) was observed in melanoma, seminoma, papillary thyroid carcinoma, ductal breast carcinoma, and acute lymphoblastic leukemia.

papillary thyroid carcinoma


Input: 25 SNPs in the SCNN1A, SCNN1B, SCNN1G, NEDD4L, NDFIP2, and USP2 loci were found to be associated with blood pressure.

blood pressure


Input: A combination of ITPA genetic polymorphisms with baseline Hb and CLcr levels further improves the predictive accuracy of severe anaemia.

CLcr

anaemia


Input: In 45 primary ovarian carcinoma samples where both components of the IL-11 receptor (IL-11Ralpha and gp130) were examined, coexpression was observed in 42 (93. 3%).

ovarian carcinoma

ovarian carcinoma


Input: Unlike other chromosomal translocations, which are usually specific for a given lineage, the chromosomal translocation t (12; 13) (p12; q14) has been observed in both B-cell and T-cell precursor acute lymphoblastic leukemia (BCP-, TCP-ALL), in differentiated and undifferentiated acute myeloblastic leukemia (AML), and in chronic myeloid leukemia (CML) at progression to blast crisis.

BCP

chromosomal translocation


Input: HMW-HA triggers hypersensitivity of naked mole rat cells to contact inhibition, which is associated with induction of the INK4 (inhibitors of cyclin dependent kinase 4) locus leading to cell-cycle arrest.

hypersensitivity


Input: Moreover, we found in humans that hepcidin levels correlated with hepatic iron stores and hemoglobin levels and may also be affected by hepatic dysfunction.

hepcidin

hepatic dysfunction


Input: We conducted data-mining analyses of genome wide association (GWA) studies of the CATIE and MGS-GAIN datasets, and found 13 markers in the two physically linked genes, PTPN21 and EML5, showing nominally significant association with schizophrenia.

schizophrenia

schizophrenia


Input: In conclusion, activation of STAT1 attenuates liver fibrosis through inhibition of HSC proliferation, attenuation of TGF-beta signaling, and stimulation of NK cell killing of activated HSCs.

liver fibrosis

liver fibrosis


Input: We studied the associations of polymorphism of ADRB3 and PPARγ2 genes with obesity indices, unfavorable lipid profile parameters and insulin resistance index HOMA in 343 postmenopausal women.

insulin resistance


Input: Here, we show that HIG2 also upregulated HIF-1α expression under hypoxic conditions and enhanced AP-1 expression under normoxic conditions, which affects colorectal cancer cell survival.

hypoxic


Input: The expression and deacetylase activity of SIRT6 were measured in vivo, using the abdominal aortic constriction (AAC) model of cardiac hypertrophy in rats.

cardiac hypertrophy

cardiac hypertrophy


Input: Blockade of Cyp-D by siRNA-mediated depletion or pharmacological inhibitors (cyclosporin A and sanglifehrin A) significantly suppressed salinomycin-induced glioma cell necrosis.

Cyp-D

necrosis


Input: Acquired C1 inhibitor (C1-INH) deficiency exposes patients to angioedema recurrences (acquired angioedema [AAE]) mediated by bradykinin pathway activation.

C1 inhibitor

acquired angioedema

C1 inhibitor

acquired angioedema


Input: Results suggested that MTHFR C677T polymorphism was associated with significantly increased risk of MTX-induced toxicity, specifically liver toxicity (TT/CT vs. CC: odds ratio (OR) = 1. 70, 95% confidence interval (CI) = 1. 05-2. 75), myelosuppression (TT vs. CT/CC: OR = 2. 82, 95% CI = 1. 25-6. 34), oral mucositis (TT/CT vs. CC: OR = 3. 68, 95% CI = 1. 73-7. 85), gastrointestinal toxicity (TT/CT vs. CC: OR = 2. 36, 95% CI = 1. 36-4. 11), and skin toxicity (T vs. C: OR = 2. 26, 95% CI = 1. 07-4. 74).

MTX

myelosuppression


Input: Recent discoveries find that the PAX2 gene is pivotal in kidney development and it is implicated in the pathogenesis of renal interstitial fibrosis (RIF) and glomerulosclerosis (GS).

PAX2 gene

glomerulosclerosis


Input: Small amounts of progerin are also produced during normal aging.

progerin

aging


Input: We have previously shown that mice lacking Six1 die at birth due to thoracic skeletal defects and severe muscle hypoplasia affecting most of the body muscles.

thoracic


Input: A child with a mild form of pseudoachondroplasia was heterozygous for a deletion of 12 nucleotides from exon 10 of the cartilage oligomeric matrix protein (COMP) gene.

COMP

mild


Input: These results strongly suggest that EGF and/or TGF-alpha produced by carcinoma cells function as autocrine growth factors for human esophageal carcinomas.

EGF

esophageal


Input: Wegener' s granulomatosis (WG) is characterized by systemic vasculitis with crescentic glomerulonephritis (CGN) and circulating autoantibodies directed against neutrophil cytoplasmic antigens (ANCA).

CGN

crescentic glomerulonephritis


Input: Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p & lt; 0. 0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p & lt; 0. 005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).

histatin 1

autistic

histatin 1

autistic


Input: As a component of an ongoing extensive study of the epidemiology of childhood brain tumors, we prospectively examined the germline and tumor p53 gene status in 85 children without a family history of cancer who were diagnosed with a sporadic malignant central nervous system tumor.

p53 gene

sporadic


Input: However, the effect of CETP single-nucleotide polymorphisms on systolic blood pressure (0. 16 mm Hg, 95% CI-0. 28 to 0. 60 mm Hg) and diastolic blood pressure (-0. 04 mm Hg, 95% CI-0. 36 to 0. 28 mm Hg) was null and significantly different from that expected of 10 mg of torcetrapib.

CETP

diastolic blood pressure


Input: In the present study, we investigated the involvement of mitogen-and stress-activated protein kinases during apoptosis of A549 lung cancer cells infected with adenovirus expressing eIF5A1 or a mutant of eIF5A1 that cannot be hypusinated (eIF5A1K50A).

lung cancer


Input: It is concluded that expression of L-selectin gene was down-regulated in level of mRNA and protein in acute leukemia patients and both changes were highly correlated.

L-selectin

acute leukemia


Input: The mean levels of atherogenic lipids (total cholesterol [TC], triacylglycerol [TG] and LDL cholesterol [LDL-C]), acute-phase reactants (CRP, ESR, PMNLs, ceruloplasmin and fibrinogen) and lipid peroxidation products, AuAb-oxLDL levels in patients with psoriasis were found to be significantly higher than those of healthy subjects.

ceruloplasmin

psoriasis

ceruloplasmin

psoriasis


Input: Our studies demonstrate that the Foxm1b transcription factor is required for proliferative expansion during tumor progression and constitutes a potential new target for therapy of human HCC tumors.

HCC

HCC


Input: Transcription factor Ets-1 mediates ischemia-and vascular endothelial growth factor-dependent retinal neovascularization.

retinal neovascularization


Input: We report herein a rare case of a t (1; 8) (q25; p11. 2) with a TPR-FGFR1 rearrangement, in which the patient presented with myeloproliferative neoplasm-like symptoms and T-lymphoblastic lymphoma.

myeloproliferative neoplasm


Input: We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to evaluate possible relationships between thrombosis, abnormal bleeding, peripheral blood count, overexpression of PRV1 and JAK2 (V617F) mutational status.

abnormal bleeding


Input: The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness.

ESPN

deafness

ESPN

deafness


Input: CONCLUSIONS: Heparanase is upregulated and associated with the VEGF expression in hypoxia-induced retinal diseases.

Heparanase

hypoxia


Input: The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.

TGFBI

TBCD

TGFBI

TBCD


Input: It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.

sporadic


Input: The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and NRAMP1 (SLC11A1) in susceptibility to silicosis and pulmonary tuberculosis (PTB), and to analyze the interaction of dust exposure and genetic susceptibility to silicosis, interactions of TNF-alpha-308 and Natural Resistance-associated Macrophage Protein 1 (NRAMP1) INT4, D543N polymorphisms to PTB.

PTB

silicosis


Input: MIF expression in gastric cancer cell lines was detected by reverse transcription-polymerase chain reaction (RT-PCR) and Western blot.

MIF

gastric cancer


Input: Taken together, these data indicate that RanBP9-N60 may further drive the amyloid cascade in AD and that the proteolytic processing of RanBP9 may be an attractive therapeutic target.

amyloid


Input: CT brain revealed diffuse subarachnoid haemorrhage (SAH) and cerebral angiogram subsequently confirmed vertebral artery aneurysm rupture leading to SAH.

SAH

vertebral artery aneurysm


Input: Complete loss of HtrA2 has been shown to cause neurodegeneration in mice.

neurodegeneration


Input: Human esophageal and gastric carcinomas express multi-autocrine growth factors and hormones including epidermal growth factor (EGF), transforming growth factor (TGF)-alpha and beta, platelet-derived growth factor (PDGF), insulin-like growth factor (IGF) and sex hormones.

EGF

esophageal


Input: We studied body fat distribution in two male and two female patients with MAD by anthropometry, dual energy x-ray absorptiometry, and magnetic resonance imaging.

MAD

body fat distribution


Input: Between low-grade and high-grade dysplastic adenomas, 65 classifier probesets such as aquaporin 1, CXCL10, and APOD (90. 91/100) were identified; between colorectal cancer and adenoma, 61 classifier probesets including axin 2, von Willebrand factor, tensin 1, and gremlin 1 (90. 91/100) were identified.

von Willebrand factor

adenoma


Input: The effects of ES (0. 3-0. 5 mA) or the central administration of corticotropin-releasing factor (CRF; astressin, 10 microg/kg) or cholecystokinin (CCKB; 20 microg/kg) receptor antagonists and peripheral glucocorticoid receptor (RU-486; 10 mg/kg) or ganglion (hexamethonium; 15 mg/kg) blockers on TNBS-induced colitis were studied by the assessment of macroscopic score, histological analysis and tissue myeloperoxidase activity.

corticotropin-releasing factor

ganglion


Input: Together, these results establish a novel pathway for the negative regulation of TLR responses through the nervous system that critically involves induction of the transcriptional repressor ICER by the neuropeptide CGRP.

CGRP

nervous system


Input: Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Woolly Hair

Woolly Hair


Input: Two major families of receptor tyrosine kinases, the epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor (PDGFR) families, have received a great deal of attention as potential therapeutic targets for pulmonary diseases, as these receptors have been shown to play key roles in chronic tissue remodeling in asthma, bronchitis, and pulmonary fibrosis.

PDGFR

bronchitis


Input: In a transgenic mouse with cardiac specific expression of the Thr400Asn mutation in PRKAG2 (TG (T400N)), we previously reported initial cardiac hypertrophy (ages 2-8 weeks) followed by dilation and failure (ages 12-20 weeks).

dilation


Input: Germline BRCA2 mutations are associated with poorer outcome prostate cancer (PCa) compared with sporadic tumours but this association remains to be characterised.

sporadic


Input: The PTEN/Akt1/mTOR signaling pathway will continue to be a critical area of study in the pathogenesis of pulmonary hypertension, and specific Akt isoforms may help specify therapeutic targets for the treatment of pulmonary hypertension.

pulmonary hypertension


Input: A mild hypersensitivity to X-rays has been reported for DSAP-derived fibroblasts and frequent over-expression of p53 has been found in lesional epidermis.

hypersensitivity


Input: We found that GluD1 knockout mice (GluD1 KO) were hyperactive, manifested lower anxiety-like behavior, depression-like behavior in a forced swim test and robust aggression in the resident-intruder test.

depression


Input: To clarify the role of TNFR2, we developed a TNF-α-induced bone resorption model using cholesterol-bearing pullulan nanogel as a TNF-α carrier to minimize the influence of inflammatory cytokines other than TNF-α.

bone resorption


Input: Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction.

retinal degeneration

retinal degeneration


Input: Previously, we have shown that Msh2-null mice display increased sensitivity to ultraviolet (UV) B-induced tumorigenesis, but squamous cell carcinomas (SCC) generated are microsatellite stable, suggesting a role for MMR other than postreplicative repair in UV-induced cutaneous tumour formation.

MMR

tumorigenesis


Input: Here we further investigated the role of NCX in the etiology of seizures by quantifying the effects of KB-R7943 and SN-6, potent inhibitors of the reverse mode of NCX subtypes 3 (NCX3) and 1 (NCX1), respectively, on the occurrence of acute seizures and status epilepticus induced by intraperitoneal administration of pilocarpine, a muscarinic acetylcholine receptor agonist.

status epilepticus

status epilepticus


Input: DNA obtained from 18 cases of familial ovarian cancer without mutation of the BRCA1 and BRCA2 genes, 20 cases with BRCA1 mutation, 20 cases of sporadic ovarian cancer, and 19 controls were screened for mutations in the coding region of the ER-alpha gene using direct sequencing.

BRCA2 genes

sporadic


Input: Ovarian responsiveness to FSH in normogonadotropic anovulatory infertile women was assessed during ovulation induction, and DNA was analyzed to determine the FSH receptor genotype.

FSH receptor

infertile


Input: We found that expression of Swiss Cheese, a neurodegenerative protein, increased 34-fold and that its human ortholog, neuropathy target esterase, is also upregulated in response to adenovirus-mediated overexpression of TIGR/MYOC in perfused postmortem human eyes.

neuropathy target esterase

adenovirus


Input: A total of 105 sporadic breast carcinomas were analysed for LOH in the regions of BRCA1, BRCA2, TP53, Caveolin1, " putative BRCA3 ", PTEN, ATM and E-cadherin and correlated it with clinicopathological features.

sporadic


Input: The mammalian target of rapamycin (mTOR) signaling pathway is a key developmental pathway involved in mechanisms underlying cellular aging and neurodegeneration.

mammalian target of rapamycin

neurodegeneration


Input: To assess whether the IL13 variant Arg110Gln is associated with cedar pollinosis, one of the most common atopic diseases in the Japanese population, we examined the Arg110Gln variant using PCR-RFLP to compare the genotype and allele frequencies between 95 patients with cedar pollinosis and 95 healthy control subjects.

atopic


Input: This virus-induced dissociation of utrophin was affected by genistein treatment, suggesting a role of receptor tyrosine phosphorylation in the process.

utrophin

dissociation


Input: SIRT1 suppressed EAE clinical symptoms compared with wild-type EAE mice and prevented or altered the phenotype of inflammation in spinal cords; as a result, demyelination and axonal injury were reduced.

demyelination

demyelination


Input: The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.

HDR syndrome

HDR syndrome


Input: A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

Hydrocephalus

Hydrocephalus


Input: In 288 white children, the IL13 130Gln allele was associated with atopy (RR = 1. 9, P = 0. 047), and with atopic dermatitis (RR = 2. 5, P = 0. 014).

atopy


Input: A new case of acute monocytic leukemia observed in a 73-year-old male (ANLLM5) with an unusual t (8; 22) (p11; q13) is reported.

acute monocytic leukemia


Input: The NUP98/RAP1GDS1 (NRG) is a new fusion gene, originating from the t (4; 11) (q21; p15) translocation, that characterizes a subset of T-cell acute lymphoblastic leukemia (T-ALL).

translocation


Input: A 70-year-old woman was admitted with rectal bleeding accompanied by widespread petechiae, bruising, tongue and buccal mucosa bleeding, and epistaxes and proved refractory to HLA-and HPA-matched PLTs.

HPA

petechiae


Input: Strong ARHI expression was found in normal ovarian surface epithelial cells, cysts and follicles using immunohistochemistry and in situ hybridization.

ARHI

cysts


Input: We tested the hypothesis that K8/K18/K19 variants associate with primary biliary cirrhosis (PBC), an autoimmune cholestatic liver disease characterized by the presence of serum AMA.

primary biliary cirrhosis


Input: We identified 25 genes, including hypoxia-related genes (e. g., MIF, SCD1, P4HA1, ENO1, and STAT1) and cell cycle-and DNA repair-related genes (e. g., TACC3, PRDX1, PRKDC, and H2AFY).

hypoxia


Input: These results and others obtained in models of myocardial stunning and hypertrophy suggest that inhibitors of EPHX2 or sEH have therapeutic potential in a broad range of cardiovascular diseases.

hypertrophy


Input: Our case confirms that the inv (11) is a rare chromosomal translocation that is associated with therapy-related or de novo myeloid malignancy and involves NUP98 and DDX10 but not MLL.

chromosomal translocation


Input: Our data suggest that SG635-p53, as a fiber chimeric oncolytic adenovirus in combination with p53 expression, may serve as a novel, promising and safe anticancer agent for the treatment of HCC.

HCC

adenovirus


Input: In the group with OPG patients, there was a significantly higher incidence of freckling (P = 0. 017), neurofibromatosis bright objects (NBO) (P = 0. 0038), compared to the group without OPG.

OPG

freckling


Input: The overall 5-year RSR of the patients in the BRCA1 families, BRCA2 families, non-BRCA1/2 families and among sporadic cases was 67%, 77%, 86% and 78%, respectively.

sporadic


Input: The differences of promoter hypermethylation of RASSF1A and EBV viral load among T, P, and Z tissues were statistically significant, with more frequent methylation and higher viral load detected when tissues examined were nearer to the NPC tissues.

viral load


Input: We sought to determine whether airway epithelial cells (AECs) from asthmatic children differentially express TGF-β2, VEGF, ADAM33, or periostin compared with cells from atopic nonasthmatic and healthy children intrinsically or in response to IL-4/IL-13 stimulation.

atopic


Input: Cultured fibroblasts from patients with familial Alzheimer' s disease (FAD; n = 6), sporadic Alzheimer' s disease (SAD; n = 4), and age-matched healthy control subjects (n = 4) were studied with an ACAS Interactive Laser Cytometer (ACAS-470).

FAD

sporadic


Input: Estrogen Sulfotransferase Is an Oxidative Stress-responsive Gene That Gender-specifically Affects Liver Ischemia/Reperfusion Injury.

Estrogen Sulfotransferase

Liver

Estrogen Sulfotransferase

Liver


Input: Transcriptional co-activator with PDZ-binding motif (TAZ), a downstream effector of the Hippo pathway, has been reported to regulate organ size, tissue homeostasis, and tumorigenesis by acting as a transcriptional co-activator.

TAZ

tumorigenesis


Input: We assessed the effect of novel immunotherapeutic heat-killed bacterial (Actinomycetales) preparations on the development of myointimal hyperplasia (MIH) in a rat carotid balloon trauma model and the effect on the immune response by measuring the expression of interferon gamma (IFN-gamma; (Th1) and interleukin 4 (IL-4; Th2).

IFN

hyperplasia


Input: These findings demonstrate that RIOK3 is necessary for maintaining actin cytoskeletal organisation required for migration and invasion, biological processes that are necessary for hypoxia-driven metastasis.

hypoxia


Input: This study suggests that loss of FAT1 and β-catenin are associated with breast cancer progression, aggressive behavior, and poor prognosis.

aggressive behavior


Input: Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias.

cleft lip/palate


Input: Immunocytochemistry showed that increased expression of TIAR occurred mainly in the CA1 sector of hippocampus 24 hr after global ischemia, and in cortical and striatal neurons 24 hr after 20 or 90 min of focal ischemia.

ischemia


Input: Our goal was to investigate whether genetic variation in TNF and LTA is associated with asthma and atopy and whether the association is modified by parental smoking in a Mexican population with high ozone exposure.

LTA

smoking


Input: Uncontrolled generation of bradykinin (BK) due to insufficient levels of protease inhibitors controlling contact phase (CP) activation, increased activity of CP proteins, and/or inadequate degradation of BK into inactive peptides increases vascular permeability via BK-receptor 2 (BKR2) and results in subcutaneous and submucosal edema formation.

edema


Input: Using our 10 kb probes we demonstrated that the chromodomain gene CHD7 was disrupted by the translocation between exons 3 and 8.

translocation


Input: Thus, THC or cannabinoids with activity at the CB2 receptor may be valuable targets for treating atherosclerosis.

atherosclerosis

atherosclerosis


Input: ERAP1 and ZNF816A were associated with type 1 (early onset) psoriasis in the Chinese Han population (test for heterogeneity P = 6. 5 & #215; 10 & #8315; & #179; and P = 1. 5 & #215; 10 & #8315; & #179;, respectively).

psoriasis

psoriasis


Input: Quantification of Bcl-2 levels showed a 34% to 51% reduction in autistic cerebellum (M +/-SD per 75 microg protein 0. 29 +/-0. 08; N = 5) compared with controls (M +/-SD per 75 microg protein 0. 59 +/-0. 31; N = 8, p & lt; 0. 0451).

autistic

autistic


Input: Immunocytochemical studies confirmed that ZBP-89 expression is elevated in neoplastic tissue and chronic gastritis, whereas Sp1 expression was nearly unchanged.

chronic gastritis


Input: Prospective studies investigating the impact of RBP4 on the development of glucose intolerance are needed.

glucose intolerance


Input: The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.

metaplasia


Input: Transcatheter arterial chemoembolization (TACE) has become the standard treatment modality for unresectable hepatocellular carcinoma (HCC).

HCC

unresectable hepatocellular carcinoma


Input: The cells were heterogeneous and mainly consisted of those with CD4, CD8 as well as activation markers and adhesion molecules including IL-2Ralpha, beta, gamma, CD45RO, Tf-R, HLA-DR, LFA-1alpha, beta, LFA-3, ICAM-1 and OX40 but without CD3 surface markers.

adhesion


Input: Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.

PNP

hypoxia


Input: The single-nucleotide polymorphisms (SNPs) rs6700125 and rs6690993 in FGGY (FLJ10986) were recently reported to be a susceptibility factor for sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations in genome-wide association studies.

sporadic


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

SHH

neuroblastoma


Input: Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%).

ovarian cancer

ovarian cancer


Input: Chromosome analysis showed a 46, XX karyotype and translocation of SRY (testis-determining factor) from chromosome Y to chromosome X was identified by fluorescence in situ hybridization (FISH).

testis-determining factor

translocation


Input: Mutation analysis provides valuable preoperative information to assess the risk of malignancy in A-PG and E-PGLs and should be considered in the work up of all E-PGL lesions.

PGLs

malignancy


Input: Proteomic analysis of death-inducing signaling complex formation during TRA-8 treatment shows that the translocation of TRAIL-R2-associated apoptotic proteins was significantly altered.

translocation


Input: We demonstrated previously that OX40 and its ligand, gp34, directly mediate adhesion of activated normal CD4 + T cells, as well as human T-cell leukemia virus type I (HTLV-I)-transformed T cells to vascular endothelial cells.

adhesion


Input: Biology of the immunomodulatory molecule HLA-G in human liver diseases.

HLA-G

liver diseases


Input: MSH6 mutation carriers have later age of onset of both colorectal cancer (62 vs. 51 years) and endometrial cancer (58 vs. 48 years) and a larger proportion of endometrial cancer than MLH1 or MSH2 mutation carriers.

colorectal cancer

colorectal cancer


Input: This converging cross-species evidence implicates ADCY7 in the modulation of mood regulatory neural mechanisms and, possibly, risk for and pathophysiology of depression, together supporting a continuous dimensional approach to major depressive disorder and other affective disorders.

affective disorders

affective disorders


Input: Skin sample analysis showed a higher expression of genes encoding pro-inflammatory cytokines (Il-8, Il-1b, TNF-a) and inflammasome-related genes (NALP-3 and CASP-1) in rosacea, especially PPR.

rosacea


Input: A role for BRCA2 in sporadic breast and ovarian cancer has been suggested by loss of heterozygosity (LOH) studies which show frequent LOH in the BRCA2 region at chromosome 13q12.

sporadic


Input: Genes found to be most influential to development of the highest grade of astrocytoma, Glioblastoma multiforme were: COL4A1, EGFR, BTF3, MPP2, RAB31, CDK4, CD99, ANXA2, TOP2A, and SERBP1.

astrocytoma


Input: Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

brain

brain


Input: Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4 + T-cell help.

common variable immunodeficiency


Input: These data firmly establish that both pyridoxine responsive and nonresponsive forms of GA result from mutations in the OATase structural gene.

OATase

GA

OATase

GA


Input: In fibroblasts, silencing SPL promoted tumorigenic transformation through a pathway involving extracellular transport of S1P through S1P transporter spinster homolog 2 (SPNS2), S1P receptor activation, JAK2/STAT3-dependent miR-181b-1 induction, and silencing of miR-181b-1 target cylindromatosis (CYLD).

tumorigenic transformation


Input: Here, we show that ST2 (-/-) mice exhibit reduced cutaneous inflammatory responses compared with WT mice in a phorbol ester-induced model of skin inflammation.

skin inflammation


Input: These studies identify a key role for Cck in the development and treatment of mania, and describe some of the molecular mechanisms by which lithium may act as an effective antimanic agent.

Cck

mania

Cck

mania


Input: In inclusion-body myositis muscle fibers Parkinson-associated DJ-1 is increased and oxidized.

myositis


Input: This study reports associations between 5-HTTLPR, alcohol intoxication and intention to drive among young adult patrons exiting on-premise drinking establishments (i. e. bars) at night.

alcohol intoxication

alcohol intoxication


Input: To use MRI to study the sacroiliac joint (SIJ) and lumbar spine (LS) and explore the relationship between sites and extent of inflammation and HLA-B27 status over 12 months.

MRI

inflammation


Input: In various cancers, hypoxia and CCN2 promote stem and progenitor cell properties, and regulate the proliferation, migration and phenotype of cancer cells.

hypoxia


Input: Neuroinflammation-associated impairment in motor behavior and cognitive function was also attenuated in the LCN2-deficient mice, as determined by the rotarod performance test, fatigue test, open-field test, and object recognition task.

fatigue


Input: Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.

CAID

CAID


Input: The most frequent mutations presented in 8 HIV co-infected patients and one mono-infected patient with antiretroviral therapy (ART) experience were rtM204V and six of them showed genotype G (6/9).

ART

mono


Input: These results suggest that specific astrocytic deficits in GFAP expression in corticolimbic circuits may be a general correlate of depressive-like behavior in animal models in addition to human major depression.

GFAP

major depression

GFAP

major depression


Input: EMSA showed that AP-1 binding to hPAEC nuclear protein extracts was significantly enhanced by hypoxia, the increase being dependent on store-operated Ca2 + influx and sensitive to La3 +, an SOC inhibitor.

hypoxia


Input: 105 women were classified as having sporadic disease (94 with wild-type or known polymorphisms and 11 with variants of unclear significance) and 22 as having genetic predisposition (deleterious mutations in BRCA1 [15] or BRCA2 [seven]).

sporadic


Input: There was a significant difference between the current smoking and nonsmoking groups in the allele frequency of the CCK-45C/T polymorphism.

CCK

smoking


Input: Pathological response was determined in each resected metastasis as TRG rated from 1 (complete) to 5 (no response).

TRG

metastasis


Input: However, when present in lymphocytes of the cancer patients, all 3 loci change their replication mode: alleles of TP53 and D21S55 become asynchronous, whereas the early replicating allele of GABRB3 delays replication, leading to relaxation in the imprinted mode of replication.

cancer


Input: We assessed whether circulatory acute phase reactants were associated with smoking and whether or not the association was modified by the major cytokine gene of the acute phase reaction, interleukin-6 (IL-6).

smoking


Input: A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A, the gene which encodes sodium channel Nav1. 7, and pain disorders in humans, with gain-of-function mutations causing severe pain syndromes, and loss-of-function mutations causing congenital indifference to pain.

congenital indifference to pain

congenital indifference to pain


Input: In uterine tissues of ovariectomized mice injected with P (4), miR-200 expression was significantly decreased, STAT5b expression was up-regulated, and 20α-HSD mRNA was decreased, but in 15 d postcoitum pregnant mice injected with the PR antagonist RU486, preterm labor was associated with increased miR-200a, decreased STAT5b, and enhanced 20α-HSD expression.

preterm labor


Input: Colonic epithelial cell expression of ICAM-1 relates to loss of surface continuity: a comparative study of inflammatory bowel disease and colonic neoplasms.

colonic neoplasms

colonic neoplasms


Input: RT-qPCR results of our own cohort identified NECTIN2 (P & #8201; = & #8201; 0. 036) as the only gene that could predict metastasis.

metastasis

metastasis


Input: The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

X-linked cleft palate and ankyloglossia

X-linked cleft palate and ankyloglossia


Input: An inverted melatonin rhythm (i. e., melatonin peaks during the day instead of at night) and associated sleep-phase disturbances in individuals with SMS, as well as a short-period circadian rhythm in mice with a chromosomal deletion of Rai1, support SMS as a circadian-rhythm-dysfunction disorder.

chromosomal deletion


Input: Radioligand assays and Scatchard analysis in both tissue types revealed a single class of high-affinity IGF-IR-binding sites with a similar dissociation constant (K (d;) 0. 14 +/-0. 02 nmol/L, n = 18).

IGF

dissociation


Input: Epigenetic and genetic loss of Hic1 function accentuates the role of p53 in tumorigenesis.

tumorigenesis


Input: Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity, which may be associated with risk of gastric antrum adenocarcinoma (GAA) related to Helicobacter pylori infection.

GAA

adenocarcinoma


Input: In this study, we identified two novel mutations, c. 3742G & gt; A (p. E1248K) and c. 6051 + 1G & gt; A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1.


Input: The results found that the expression levels of both PTK6 mRNA and protein in ESCC tissues were significantly lower than those in peritumoral normal esophageal tissues.

esophageal


Input: DPP-4 inhibition increases plasma GLP-1 levels, particularly in uremia, and reduces expression of cardiac mRNA levels of matrix proteins and B-type natriuretic peptides (BNP).

BNP

uremia


Input: Lico-E also has neuroprotective effect against 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine-induced nigrostriatal dopaminergic neurodegeneration in mice, with up-regulation of HO-1 and NQO1 in the substantia nigra of the brain.

neurodegeneration


Input: In contrast, anti-HLA-DR or anti-OX40 ligand Ab mainly affected beryllium-induced proliferation responses with little impact on cytokines other than IL-2, thus implying that nonproliferating BAL CD4 (+) T cells may still contribute to inflammation.

inflammation


Input: We investigated the molecular basis of another case of BSS with a deficient expression of GPIX, as detected by immunofluorescence studies.

GPIX

BSS

GPIX

BSS


Input: A short 3-min cerebral ischemia and a 3-min ischemia followed by a second lethal ischemia enhanced the expression of EP2 and EP4 receptors in CA1 pyramidal neurons of the hippocampus.

ischemia


Input: SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.

NSDHL

CHILD syndrome

NSDHL

CHILD syndrome


Input: Although inactivating frameshift mutations in the Transforming growth factor beta receptor type 2 (TGFBR2) gene are considered as drivers of microsatellite unstable (MSI) colorectal tumorigenesis, consequential alterations of the downstream target proteome are not resolved completely.

tumorigenesis


Input: CLIP-PCR, by use of dried blood spots with a pooling strategy, efficiently offers a highly sensitive and high-throughput approach to detect asymptomatic submicroscopic infections with reduced cost and labor, making it an ideal tool for large-scale malaria surveillance in elimination settings.

CLIP

blood spots


Input: In the present study, we exploited a lung epithelial cell-specific inhibitor [Formula: see text] kinase 2 (IKK2) knockout mouse model to determine the role of pulmonary inflammation in the pathophysiology due to exposure to diesel exhaust particulate matter (DEP).

pulmonary inflammation

pulmonary inflammation


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

major depression

major depression


Input: The measurements of mRNA COX-I and 12S rRNA were normalized to the mRNA of actin, which is a housekeeping gene not influenced by hypoxia.

COX

hypoxia


Input: Importance of genetics in fetal alcohol effects: null mutation of the nNOS gene worsens alcohol-induced cerebellar neuronal losses and behavioral deficits.

nNOS

fetal alcohol effects

nNOS

fetal alcohol effects


Input: CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.

CBLB

experimental autoimmune encephalomyelitis

CBLB

experimental autoimmune encephalomyelitis


Input: Mutations in the gene for EpCAM are responsible for CTE.

EpCAM

CTE

EpCAM

CTE


Input: Relation between the plasma levels of LDL-cholesterol and the expression of the early marker of inflammation long pentraxin PTX3 and the stress response gene p66ShcA in pacemaker-implanted patients.

inflammation


Input: Angiogenesis is an essential component of cancer aggression and metastasis and HCC is a highly aggressive and angiogenic cancer.

HCC

aggression


Input: The frequencies of glutathione S-transferase M1/T1, SOD2 and NQO1 genotypes did not differ significantly among the varicocele patients, idiopathic infertile patients and male controls.

varicocele


Input: A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Craniometaphyseal dysplasia

Craniometaphyseal dysplasia


Input: Anti-SIGIRR Ab over control-treated mice showed increased corneal opacity, stromal damage, and bacterial load.

SIGIRR

corneal opacity


Input: Myeloid DCs of current smokers with COPD displayed a significantly increased expression of receptors for antigen recognition such as BDCA-1 or Langerin, as compared with never-smoking controls.

Langerin

smoking


Input: These results also suggested the availability of negative regulation of HIF-1 signals for uterine cancer treatment, especially for uterine sarcomas that have worse prognosis and show a high frequency of EGLN1 gene abnormality.

EGLN1 gene

uterine cancer


Input: The most common translocation in Ewing' s sarcoma encodes the EWS/FLI oncogenic transcription factor.

EWS

translocation


Input: Some of these epigenetic alterations including promoter hypermethylation of genes like P16INK4a, BRCA1, BRCA2, ERα and RARβ2, APC, and RASSF1A have been associated with early stages of mammary gland tumorigenesis and have been suggested to be included in the models that evaluate individual breast cancer risk.

tumorigenesis


Input: Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability.

sporadic


Input: HER-2 overexpression, a predictive marker of tumour aggressiveness and responsiveness to therapy, occurs in 20-30% of breast cancer.

aggressiveness


Input: Between May 2001 and February 2002, five patients between 4 and 12 years of age, receiving maintenance chemotherapy for ALL, presented with symptoms suggesting B19 infection (pallor, fatigue, petechiae and pancytopenia in four patients; generalized rash in two patients; acute hepatitis in one patient).

petechiae


Input: The HER‑2 gene has been demonstrated to be a useful predictor of tumor aggression, which promotes the survival and growth of cancer cells through the mitogen‑activated protein kinase and/or phosphatidylinositol 3‑kinase (PI3K)/AKT pathway.

aggression


Input: Smoking did not influence breast cancer risk nor did genetic variations in NAT1, NAT2 or GSTM1 in combination with smoking.

smoking


Input: Erythropoietin also protected hearts against doxorubicin-induced cardiomyocyte atrophy and degeneration, myocardial fibrosis, inflammatory cell infiltration, and downregulation of expression of GATA-4 and 3 sarcomeric proteins, myosin heavy chain, troponin I, and desmin.

GATA

atrophy


Input: The program involves-besides proliferation-cell dissociation, motility and invasiveness, controlled by intracellular signals impinging on PI3K and on the small G-proteins of the Rac/Rho family.

dissociation


Input: The novel CRAd vector generated in this study holds promise for developing more effective therapeutics for not only melanoma but also other common cancers.

CRAd

cancers


Input: By contrast, treating hypoxic MDA-MB-231 cells with trifluoperazine (TFP) or serum withdrawal (SW), two activators of autophagy, diminished HIF-1alpha levels and stimulated LC3 processing.

TFP

hypoxic


Input: Our results suggest that the USP46 gene might play a role in the pathophysiology of MDD in the Japanese population.

MDD

MDD


Input: The analysis of the polymorphism A326T of gene ITLN-1 showed that in healthy postmenopausal female with genotype AA birth weight, BMD L2-L4 YA (%) and BMD L2-L4 AM (%) were significantly higher (BMD-bone mineral density; L2-L4--lumbar vertebrae no 2, 4; YA--peak adult bone mass; AM--age-matched bone mass).

ITLN

birth weight


Input: These results suggest that excitatory afferent signals from the peripheral vestibular receptors, resulting from acute hypotension, release glutamate into postsynaptic neurons in the vestibular nuclei and the excitatory signals are transmitted through the GluR1 subunit of the AMPA receptors and the NR2B subunits of the NMDA receptors in the vestibular system.

hypotension

hypotension


Input: The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.

acrocallosal syndrome

acrocallosal syndrome


Input: A lower proportion of individuals with a positive IFN-gamma response to HIV-1 p24 was observed in patients at a declining clinical stage: 62% in asymptomatic patients (CDC group A, n = 16) versus 19% in symptomatic patients (CDC groups B and C, n = 21; P = 0. 007, chi2 testing), whereas the proportion of individuals with a positive IL-4 response to HIV-1 p24 was almost similar in both groups of patients (25% versus 23. 8%).

asymptomatic


Input: GH or IGF-I alone at three to four times the usual dose in rats failed to produce increases in heart and LV weights and hemodynamic effects; however, IGF-I/GH was synergistic, increasing body weight and LV weights by 39 and 35%, respectively.

IGF-I

body weight


Input: This is in contrast to Pick' s disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains.

tau

Pick' s disease

tau

Pick' s disease


Input: Breast tumors of patients with a germ-line mutation in the BRCA1 or BRCA2 gene have an increase of additional genetic defects compared with sporadic breast tumors.

BRCA2 gene

sporadic


Input: Our aim was to analyze the association of obesity and insulin resistance with adipose LPL activity and expression, and the influence of the PPARγ2 Pro12Ala polymorphism.

LPL

insulin resistance


Input: Transgenic mice expressing atrogin-1 in the heart displayed increased Foxo1 ubiquitylation and upregulation of known Forkhead target genes concomitant with suppression of cardiac hypertrophy, while mice lacking atrogin-1 displayed the opposite physiologic phenotype.

cardiac hypertrophy


Input: These results indicate that iron probably plays a role in the proliferative changes observed in hemophilic joint disease and that aberrant expression of c-myc may underlie the iron effects.

c-myc

joint disease


Input: No significant deviations in the population frequencies of GST T1 and M1 0/0 genotypes or their combination were recorded between diagnosed skin lesion patients and asymptomatic individuals in both clans.

GST

asymptomatic


Input: Furthermore, knockdown of TFF3 reduced the VEGF protein secretion: as VEGF secretion was increased time dependent manner in response to the hypoxia induction in TFF3-WT cells; however, VEGF production was significantly decreased in TFF3-KD cells (621 ± 89 vs. 264 ± 73 at 6 h and 969 ± 97 vs. 508 ± 69 at 12 h, P < 0. 05).

hypoxia


Input: To determine whether such genomic alterations lead to Fhit inactivation, we have assessed the level of Fhit expression by immunohistochemical detection in sporadic tumors and cancers occurring in BRCA2 999del5 carriers.

sporadic


Input: Only 1 microsatellite locus (2p25. 1) in stromal cells from hereditary breast cancers was associated with mutated TP53, whereas there were 66 such loci in cells from sporadic breast cancers.

sporadic


Input: The present study suggests that LOI of H19 may play an important role in the pathogenesis of esophageal cancer.

esophageal cancer


Input: Somatic mutations are rare in sporadic breast tumors, but expression of BRCA1 and BRCA2 genes can be downregulated in other mechanistic ways.

BRCA2 genes

sporadic


Input: Since spinal p-p38 is pivotal for the development of chronic hypersensitivity in rodent models of pain, and p-p38 inhibitors have shown clinical potential in acute and chronic pain patients, we hypothesize that induction of spinal MKP-1 will prevent the development of peripheral nerve-injury-induced hypersensitivity and p-p38 overexpression.

hypersensitivity


Input: The data showed overexpression of cyclin D1 and increased expression and activation of ERK1/2, p38 kinase and JNK1/2 with progression of tumor suggesting that MAP kinases play an important role during tumorigenesis.

tumorigenesis


Input: Our data show that ERK activation plays a specific role in maintaining prolonged referred (secondary) hyperalgesia in visceral pain.

ERK

hyperalgesia

ERK

hyperalgesia


Input: All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients.


Input: We demonstrated that phenotypically different cellular constituents of uterine fibroids differentially express cellular RA-binding protein 2 (CRABP2), progesterone receptor B (PRB) and TGFB receptor 2 mRNA in fibroid-derived cells of VSMC and SMC phenotype.

SMC

fibroid


Input: We show that in the colon cancer cells HT-29 the inhibition of the chaperone function of Hsp90 by geldanamycin (GA) enhances the ubiquitinylation of cyclin E and triggers active degradation via the proteasome pathway.

cyclin E

colon cancer


Input: To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G & gt; A) or R173Q (6391G & gt; A) mutations.

PBGD

AIP

PBGD

AIP


Input: The role of ATF3 in promoting in vitro migration and invasion were evaluated by siRNA-mediated knockdown and adenovirus-mediated overexpression of ATF3.

adenovirus


Input: A ∼ 680 kb duplication, confirmed by real-time PCR and G-to-FISH analyses, was observed between ∼ rs11859825 and rs9932411 in a 68-year-old male with severe obesity.

FISH

severe obesity


Input: The serum SHBG levels in homozygous genotype groups exhibit a sequence of 8/8 > 9/9 > 6/6, 7/7 repeats and the fall of serum SHBG trend is in reversed relation with the increase in body mass index (BMI), Homa-IR, and blood pressure.

SHBG

body mass index


Input: In addition, the mutated protooncogenes were amplified in HCV-associated lymphomas and HCCs, but not in lymphomas of nonviral origin or HBV-associated HCC.

HCC

lymphomas


Input: Thus, despite the rarity of somatic mutations in Chk2 in sporadic breast carcinomas, our results nevertheless reveal that concomitant loss of function in Chk2 (via down-regulation of expression) and p53 (via mutation) occurs in a proportion of sporadic cases.

sporadic


Input: Analysis of an additional two human colon cancer cell lines with and without K-ras mutation also showed a K-ras-and VDR-dependent toxicity of MKK6.

colon cancer

colon cancer


Input: A significant negative correlation was observed between IMPA2 mRNA levels and [Ca (2 +)] (B) in BLCLs from male (P = 0. 046), but not female BD-I patients.

BD-I

BD-I


Input: Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.

adhesion


Input: In detail, resveratrol down-regulates MALAT1, resulting in decreased nuclear localization of & #946;-catenin thus attenuated Wnt/& #946;-catenin signaling, which leads to the inhibition of CRC invasion and metastasis.

metastasis

metastasis


Input: To develop an acenocoumarol (ACN) dosing algorithm for patients with atrial fibrillation or venous thromboembolism, considering the influence on the stable ACN dose of clinical factors and gene polymorphisms, including CYP2C9 * 2/* 3, VKORC1, CYP4F2 * 3, ABCB1, APOE, CYP2C19 * 2/* 17, and GGCX.

GGCX

venous thromboembolism


Input: This study provides novel epidemiologic data through identification of FGFR1 gene amplification in Chinese NSCLC specimens (particularly squamous) and, importantly, extends the clinical significance of this finding by using multiple FGFR1-amplified squamous lung cancer PDTX models to show tumor stasis or regression effects using a specific FGFR inhibitor (AZD4547).

regression


Input: We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes.

SOD

SOD


Input: Our results suggest a role for ACE in the bidirectional communication between the central nervous and immune systems in response to stress.

ACE

nervous


Input: The initial study cohort consisted of 7 pilocytic astrocytoma (PA), 19 ependymoma (EPN), 5 glioblastoma (GBM), 6 medulloblastoma (MED), and 5 nontumor brain (NT) control samples obtained from epilepsy surgery.

MED

epilepsy


Input: Amplified tumours were histopathologically more aggressive than non-amplified tumours, and features of aggressiveness increased with the mean HER2 copy number.

aggressiveness


Input: The aim of this study was to investigate the relationship between Annexin A1 protein expression and pathological differentiation grade in biopsy samples from a large cohort of patients with oral squamous cell carcinoma (OSCC); and to evaluate the potential role of Annexin A1 on cell proliferation and tumorigenesis of OSCC.

Annexin A1

tumorigenesis


Input: SPP1 promoter polymorphisms and glioma risk in a Chinese Han population.

glioma


Input: There is increasing interest in a pathogenetic role for angiotensin II in ischaemic retinopathies such as diabetic retinopathy and retinopathy of prematurity.

angiotensin II

retinopathy of prematurity

angiotensin II

retinopathy of prematurity


Input: These results suggest that a high expression of DT-diaphorase in podocytes could play a major role in the pathogenesis of renal toxicity and mitomycin C-induced hemolytic uremic syndrome, in which injury to the glomerular filtration mechanism is the primary damage, leading to a cascade of deleterious events including microangiopathic hemolytic anemia and thrombocytopenia.

DT-diaphorase

hemolytic uremic syndrome

DT-diaphorase

hemolytic uremic syndrome


Input: The pathogenic mutant (P174L) of human Sco1 produces respiratory chain deficiency associated with cytochrome c oxidase (CcO) assembly defects.

respiratory chain deficiency

respiratory chain deficiency


Input: Modulation in activation and expression of phosphatase and tensin homolog on chromosome ten, Akt1, and 3-phosphoinositide-dependent kinase 1: further evidence demonstrating altered phosphoinositide 3-kinase signaling in postmortem brain of suicide subjects.

phosphatase and tensin homolog

suicide


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

CCNH

breast cancer

CCNH

breast cancer


Input: Previously, we reported that glycine N-methyltransferase (GNMT) knockout (Gnmt (-/-)) mice develop chronic hepatitis and HCC.

HCC

chronic hepatitis


Input: LPS stimulation also significantly weakened the collagen adhesion capability of pEGFP-N1 transfected cells (P < 0. 01), but there was no significant difference in recombinant pEGFP-N1-Elafin cells (P > 0. 05).

Elafin

adhesion


Input: Loss of VHL gene expression correlated strongly with the appearance of NF-κB-and interferon gene signatures in both familial and sporadic cases of ccRCC.

NF-κB

sporadic


Input: To assess the association between PTPN22 1858C > T gene polymorphism and susceptibility to, and clinical presentation of, systemic lupus erythematosus (SLE).

T gene

systemic lupus erythematosus


Input: We describe herein the fourth family with MACS syndrome in two siblings carrying a novel homozygous mutation, c. 1878_1879insC in exon 8 of the RIN2 gene, which predicts p. Ile627Hisfs * 7.

MACS syndrome

MACS syndrome


Input: In summary, our results revealed that the Vpr-upregulated expression of miR-122 is closely related to the stimulation of HCV 5' UTR activity and HCV replication by Vpr, providing new evidence for how HIV interacts with HCV during HIV/HCV co-infection.

co-infection


Input: For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.

ovarian cancer

ovarian cancer


Input: Erythropoietin improves myocardial performance in doxorubicin-induced cardiomyopathy.

Erythropoietin

cardiomyopathy

Erythropoietin

cardiomyopathy


Input: The common translocation partners of 14q32/IGH were 11q13/CCND1 (five patients) and 16q23/MAF (four patients), followed in third place by 4p16/FGFR3 (one patient).

MAF

translocation


Input: Although both HIV infections are associated with hyperimmune activation and CD4 (+) T-cell lymphopenia, most HIV-2-positive individuals display slower disease progression and low-to-undetectable viremia.

viremia


Input: The results of this study suggest that moderate folate deficiency has a stronger effect on chromosomal instability than BRCA1 or BRCA2 mutations found in breast cancer families.

chromosomal instability


Input: The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care.

vein of Galen aneurysmal malformation

vein of Galen aneurysmal malformation


Input: Our data suggest that Adcy8 might encode a translational behavioral endophenotype of bipolar disorder.

bipolar disorder

bipolar disorder


Input: The ratios of PRA/PRB mRNA were positively correlated with the IGF-I mRNA levels in leiomyoma from women in the secretory phase (r = 0. 732, p = 0. 002 < 0. 01), whereas the correlation between the level of PRB and IGF-I mRNA in leiomyomas was negative (r =-0. 573, p = 0. 025 < 0. 05).

PRA

leiomyoma


Input: The XRCC1 Arg194Trp polymorphism was significantly associated with HNC risk in studies that were adjusted for smoking and alcohol under the homozygous and heterozygote models.

smoking


Input: In the human studies, the RAGE level in the pulmonary edema fluid was significantly higher than the plasma level (p < 0. 0001).

RAGE

pulmonary edema


Input: The development of genetically engineered mice with ablation of NF1, NF2, SMARCB1/INI1 or PRKAR1A has confirmed the key role these genes play in peripheral nerve sheath tumorigenesis.

tumorigenesis


Input: In the ischemia-vulnerable CA1 neurons, BNIP3-positive granules were seen in the nucleus at 1 and 2 days, and these neurons were damaged at 3 and 7 days.

ischemia


Input: Moreover, hypersensitivity to orlistat-induced cytotoxicity was observed in MCF-7 breast cancer cells engineered to overexpress Her2/neu (MCF-7/Her2-18 cells), which exhibit a significant up-regulation of FAS expression and activity.

hypersensitivity


Input: Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia.

Glutamate carboxypeptidase II

schizophrenia

Glutamate carboxypeptidase II

schizophrenia


Input: CASPASE-1 expression and a relative increase in T (h) 1 transcripts in AT were strongly associated with insulin resistance and impairments in glucose homeostasis.

insulin resistance

insulin resistance


Input: These findings provide evidence for the role of MMP-7 in promoting the growth of cutaneous SCCs by shedding HB-EGF, and identify EGFR signalling as a potential therapeutic target in RDEB-associated SCC and unresectable sporadic cutaneous SCC.

EGFR

sporadic


Input: A small amount of normal splicing to give wild-type XPA protein is the likely molecular mechanism for the relatively mild clinical features of this patient.

XPA

mild


Input: FOXO3 is a key downstream target of the PI3K-Akt pathway in response to cellular stimulation by growth factors or insulin and has been proposed as a bridge between ageing and tumor suppression.

ageing


Input: Binding of these antibodies to Dsg3 causes endocytosis of Dsg3 from the cell surface and results in the specific depletion of Dsg3 from desmosomes, an event linked to acantholysis in the epidermis.

acantholysis


Input: Then, we investigated AIF-1, TNF, and LT-alpha gene polymorphisms in 165 patients with type 1 diabetes, consisting of 90 patients with young-onset type 1 diabetes, 75 patients with adult-onset type 1 diabetes, and 200 control patients.

alpha gene

type 1 diabetes


Input: The above described findings indicate that Arg 399Gln polymorphism in the XRCC1 is associated with risk of lung adenocarcinoma but not with risk of squamous-cell carcinoma of the lung in non-smoking women.

smoking


Input: We further showed that FN1 inhibition blocks the TFCP2-induced increase in HCC cell aggression, and that overexpression of TFCP2 can rescue the effects of FN1 inhibition.

HCC

aggression


Input: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Vici syndrome

Vici syndrome


Input: Activating missense mutations of the Gs alpha gene leading to overactivity of adenylyl cyclase have been identified in patients with McCune-Albright syndrome, but the mechanism leading to the specific development of fibrous dysplasia in bone has not been elucidated.

alpha gene

fibrous dysplasia


Input: In this work, we studied the involvement of RANK-RANKL interaction in NK cell-mediated immunosurveillance of acute myeloid leukemia (AML).

RANKL

acute myeloid leukemia


Input: In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.

HS

HS


Input: Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal.

sex reversal


Input: 12 PJS-related nasal polyps, 1 carcinoma of the nasal cavity and 28 sporadic nasal polyps were analysed for loss of (wild type) STK11/LKB1, eosinophilia, squamous metaplasia, dysplasia and expression of cyclo-oxygenase 2 and p53.

sporadic


Input: The molecular changes in endemic EBV-related LEC have been fairly well studied and include both alterations in tumor suppressor genes and 1 report of high levels of microsatellite instability.

LEC

microsatellite instability


Input: Nrf2 disrupted (Nrf2 (-/-)) and wild-type mice were treated with LCA (125 mg · kg (-1) body weight) to induce liver injury.

body weight


Input: Regulation of two genes involved in tumor invasion, the matrix metalloproteinase (MMP)-1 and the tissue inhibitor of MMP (TIMP)-1, by activators of protein kinase C (PKC) or protein kinase A (PKA) was studied in MCF-7 mammary adenocarcinoma cells.

TIMP

mammary adenocarcinoma


Input: Overproduction of the major antioxidant enzyme, glutathione peroxidase 1, caused seemingly beneficial changes in pancreatic PDX1 and UCP2, but eventually led to chronic hyperinsulinaemia by dysregulating islet insulin production and secretion.

glutathione peroxidase 1

hyperinsulinaemia

glutathione peroxidase 1

hyperinsulinaemia


Input: The outcome of acute hepatitis C is associated with efficient virus-specific CD4 T-cell response (s) without which HCV-specific CD8 T-cell and heterologous nAb responses may develop but fail to clear viremia.

viremia


Input: In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer' s disease (N = 88), mild cognitive impairment (N = 32), subjective cognitive complaints (N = 54) and depression/other psychiatric disorders (N = 64).

alpha-2 macroglobulin

depression

alpha-2 macroglobulin

depression


Input: Overexpression of IRG1 increased the growth, invasion, and tumorigenesis in U251 and SHG-44 glioma cells both in vitro and in vivo.

tumorigenesis


Input: However, oxidative damage by H (2) O (2) or pretreatment of irradiated cells with N-acetyl cysteine (NAC) did not show any influence on these proteins, thereby indicating a radiation-specific change in the methylation patterns among meningioma cells.

NAC

meningioma


Input: The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.

esophageal


Input: In human gastric cancer specimens, NRP-2 expression was detected in tumor tissues but not in adjacent normal mucosa.

NRP

gastric cancer


Input: In solid tumors, leukemias, and lymphomas, increased frequencies of functional CD4 + CD25 (high) regulatory T cells (T (reg) cells) have been previously demonstrated.

leukemias


Input: Screening for the FIG-ROS1 fusion in biliary tract carcinomas by nested PCR.

FIG

carcinomas


Input: GFAP-Cre-mediated transgenic activation of Bmi1 results in pituitary tumors.

GFAP

pituitary tumors


Input: Progressive increase in the intensity of c-Myc expression from chronic hepatitis to cirrhosis to HCC may refer to its role as a multistep regulator of hepatocarcinogenesis.

HCC

chronic hepatitis


Input: Using next-generation sequencing technology, we set up a multiple polymerase chain reaction enrichment system for target regions of EVA pathogenic genes (SLC26A4, FOXI1, and KCNJ10).

EVA

EVA


Input: The effect of clozapine on CLC-4 expression was examined in neuroblastoma (SH-SY5Y) and glioma (U87) cells.

neuroblastoma


Input: Several curcumin analogues (A10, B10, C10, E10 and F10) with different linker groups were investigated for their effects in human prostate cancer CWR‑22Rv1 and LNCaP cell lines.

prostate cancer


Input: Immunohistological staining of the liver revealed that the number of HGF-positive cells increased remarkably during the fulminant hepatitis phase, and that many of these cells were localized at the portal triads.

HGF

fulminant hepatitis


Input: Despite studies suggesting a role for HSP90alpha in tumorigenesis, there are no reports as to its expression in normal human brain tissue.

tumorigenesis


Input: In conclusion, ATP7B mRNA and protein expression in colorectal tumors is associated with clinical outcome to oxaliplatin/5FU.

colorectal tumors

colorectal tumors


Input: These examinations included antithrombin, protein C, protein S, plasminogen, heparin cofactor II, activated protein C ratio, factor V Leiden mutation, fibrinogen, factors VIII and XII, euglobulin lysis time, 677 C--> T mutation of methylenetetrahydrofolate reductase (MTHFR), prothrombin 20210 (PT 20210) A allele mutation, lupus anticoagulant, anticardiolipin antibody, and complete blood count.

MTHFR

lupus anticoagulant


Input: Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.

SGCD

lattice corneal dystrophy type 1


Input: By genetic linkage analysis, several retinal dystrophies including one form of autosomal dominant Stargardt-like macular dystrophy (STGD3), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1) have previously been localised to a region on proximal 6q that overlaps the IMPG1 locus.

retinal dystrophies


Input: Immunohistochemistry detected HLA-DR, CD80, and CD86 expression and enzyme-linked immunosorbent assay detected interferon-γ (IFNγ) in esophageal biopsies.

esophageal


Input: The objective of this study was to investigate the expression, proliferation, and apoptosis function of long-chain non-coding RNA maternally expressed gene 3 (MEG3) and antisense non-coding RNA at the INK4 locus (ANRIL) in gallbladder cancer (GBC) tissues.

ANRIL

gallbladder cancer


Input: Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4.

pontocerebellar hypoplasia

pontocerebellar hypoplasia


Input: Resistin greatly increased hepatocyte VLDL apoB and lipid secretion because of MTP activation and induction of hepatocyte insulin resistance.

MTP

insulin resistance


Input: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes.

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1


Input: gp91phox correlated with the plaque macrophage content, whereas Nox4 correlated with the content of alpha-actin-positive cells.

plaque


Input: To investigate whether increasing NCAM expression alters invasive behavior, retroviruses encoding human NCAM 140 and a cytoplasmic truncation of NCAM 140 were used to transduce a population of CNS-1 glioma cells that had a relatively low endogenous level of NCAM.

NCAM

glioma


Input: Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.

Lamin A

ageing


Input: The R1alpha protein and PRKAR1A mRNA have been found to be up-regulated in a series of cell lines and human and rodent neoplasms, suggesting this molecule' s involvement in tumorigenesis and its potential role in cell cycle regulation, growth, and/or proliferation.

tumorigenesis


Input: The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.

HRD

Sanjad-Sakati syndrome

HRD

Sanjad-Sakati syndrome