Input: The data demonstrate an association between GSTA1 and GSTP1 genotypes and BU-maximal concentration (C (max)) (P = 0. 01, P = 0. 02, respectively), area under the concentration-time curve (AUC) (P = 0. 02, P = 0. 01, respectively) and oral BU clearance/kg body weight (P < 0. 02, P = 0. 08, respectively).

body weight


Input: The TRH stimulation test did not distinguish between subtypes of unipolar depression using the familial subtyping criteria of Winokur.

TRH

unipolar depression

TRH

unipolar depression


Input: Serum total immunoglobulin (Ig) E and IL-13 levels were measured by ELISA and the IL-13R A (1) gene (+ 1398 A/G) was screened by PCR-restriction fragment length polymorphism (RFLP) in 240 asthmatic children (120 atopic and 120 nonatopic) and 120 allergic rhinitis patients compared with 120 age-matched controls.

allergic rhinitis

atopic


Input: Glomerular fibrin deposition is a common histological feature of crescentic glomerulonephritis (CGN).

CGN

crescentic glomerulonephritis


Input: This addiction is generally dependent on the acquisition of an activating kinase mutation, e. g., the bcr-abl fusion gene in chronic myeloid leukemia, or point mutations of KIT or PDGFRA in gastrointestinal stroma tumors (GIST).

PDGFRA

addiction


Input: For this, we analysed the mononecleotide repeats in ATG2B, ATG5, ATG9B and ATG12 in 32 gastric carcinomas with high MSI (MSI-H), 13 gastric carcinomas with low MSI (MSI-L), 43 colorectal carcinomas with MSI-H and 15 colorectal carcinomas with MSI-L by a single-strand conformation polymorphism (SSCP) analysis.

carcinomas


Input: To investigate genetic features in small and flat colorectal carcinomas that arise de novo, we searched for genetic alterations in six sporadic tumors by examining their APC, K-ras, and p53 genes.

p53 genes

sporadic


Input: Parkin and TDP-43 formed a multiprotein complex with HDAC6, perhaps to mediate TDP-43 translocation.

translocation


Input: There was no relationship between the expressions of TLR4 or TLR9 and patients' age, gender, smoking, the histological type of tumor, lymph node metastasis, and tumor node metastases (TNM) stage.

smoking


Input: Here we postulate that CTCs expressing genes related to epithelial-mesenchymal transition (EMT) are strong predictors of metastatic prostate cancer.

EMT

metastatic prostate cancer


Input: Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.

CCAAT/enhancer binding protein epsilon

specific granule deficiency

CCAAT/enhancer binding protein epsilon

specific granule deficiency


Input: Serum levels of phospholipase A2 (PLA2) activity have been shown to be elevated in cases of septic shock and rheumatoid arthritis.

septic shock


Input: In this article, the authors focus on the endothelial junction proteins CD31, VE-cadherin, and occludin as important factors for functional cell-cell contacts known as vascular adhesion molecules and adherence and tight junctions.

occludin

adhesion


Input: Gene expression analysis of rheumatoid arthritis synovial lining regions by cDNA microarray combined with laser microdissection: up-regulation of inflammation-associated STAT1, IRF1, CXCL9, CXCL10, and CCL5.

inflammation


Input: However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson' s disease (EOPD) Asian patients are lacking.

sporadic


Input: We undertook this study to find new members of the cancer-testis gene family appropriate for cancer immunotherapy METHODS: We analyzed the expression of six testis-specific genes called ODF1, ODF2, ODF3, ODF4, LEMD1 and SPATA19 in 30 prostate cancer and 25 benign prostate hyperplasia (BPH) samples by RT-PCR and restriction fragment length polymorphism (RFLP).

benign prostate hyperplasia


Input: A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2.

Best macular dystrophy

Best macular dystrophy


Input: The purpose of the current study was to define the myocellular changes and adaptation of the β-adrenergic receptor (β-AR) system that occur in the systemic right ventricle (RV) of children with hypoplastic left heart syndrome (HLHS).

β-adrenergic receptor

hypoplastic left heart syndrome


Input: However, clinico-pathological parameters, including stage, differentiation, amount of ascites, and serum levels of CA125, did not show any correlation to mRNA expression of any given-type ST. Our results suggest that altered mRNA expressions of alpha2, 3-sialyltransferase ST3Gal I, ST3Gal III, ST3Gal IV, ST3Gal VI, andalpha2, 6-sialyltransferase ST6Gal I are of importance in malignant ovarian cancers.

ST3Gal IV

ascites


Input: To that end, we screened 52 Jewish-Israeli patients with AD: 22 with sporadic, early-onset disease (below 65 years), and 30 with FAD.

FAD

sporadic


Input: Bradykinin and substance P have been implicated as mediators in angiotensin-converting enzyme inhibitor (ACEI)-associated angioedema.

substance P

angioedema


Input: We retrospectively studied 343 patients who had been admitted to our hospital; 161 with chronic hepatitis, 49 with liver cirrhosis, 42 with chronic hepatitis bearing HCC and 91 with liver cirrhosis bearing HCC.

HCC

chronic hepatitis


Input: 1, 25 (OH) 2D3 also induced amphiregulin mRNA in estrogen receptor-positive and-negative human breast cancer cell lines, but not in LNCaP human prostate cancer cells.

amphiregulin

breast cancer

amphiregulin

breast cancer


Input: TMX exposure to human cholangiocarcinoma after pretreatment with IFN-gamma allows for induction of apoptosis in vitro and significant inhibition tumor xenograft growth.

TMX

tumor


Input: RGH-2202 was 2-5 times more effective than TRH in improving the deficits of active avoidance performance and retention in mice, while it was weaker than TRH in modifying the haloperidol-induced catalepsy in mice and enhancing the spinal reflexes in rats.

TRH

catalepsy

TRH

catalepsy


Input: Zebrafish injected with cep164 morpholinos likewise manifest developmental abnormalities, impaired DNA damage signaling, apoptosis and a pro-fibrotic response in vivo.

abnormalities


Input: In summary, our observations indicate that ileal FGF15 may contribute to HCC development in a context of chronic liver injury and fibrosis.

HCC

fibrosis


Input: The dysregulated expression of EWS-WT1 targets contribute to the malignant phenotype of DSRCT and provide valuable insight regarding the molecular mechanisms underlying the development and progression of this distinct translocation associated tumor.

EWS

translocation


Input: Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

Leigh syndrome

Leigh syndrome


Input: Ours is the first report of CEBPA mutations in human neoplasia, and such mutations are likely to induce the differentiation block found in AML.

CEBPA

AML

CEBPA

AML


Input: Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A (TA) 7TAA, and H39D] of UGT1A1.

Crigler-Najjar syndrome type II

Crigler-Najjar syndrome type II


Input: A brief period of ischemia, i. e., ischemic preconditioning, affords robust protection of CA1 neurons against a subsequent more prolonged ischemic challenge.

ischemia


Input: We have reported previously that cranial neural-crest-specific inactivation of the homeobox gene Shox2, which is expressed in the mesenchymal cells of the maxilla-mandibular junction and later in the progenitor cells and perichondrium of the developing chondyle, leads to dysplasia and ankylosis of the TMJ and that replacement of the mouse Shox2 with the human SHOX gene rescues the dysplastic and ankylosis phenotypes but results in a prematurely worn out articular disc.

ankylosis


Input: Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: Overexpression of CLDN1 inhibited cancer cell dissociation in time-lapse imaging of wound healing, and suppressed cancer cell migration, invasion, and metastasis.

dissociation


Input: We thus investigated whether the loss of one FUS allele by translocation in liposarcoma may be followed by mutations in either the remaining FUS allele or the paralogous EWSR1.

translocation


Input: Using relatively low concentrations of oligos, we compared the efficacy of the first generation phosphorothioated oligos against TGF-alpha (MR1) and EGFR (MR2) with second generation oligos containing completely phosphorothioated backbones and different patterns of 2'-methoxyethyl (2'-MOE) backbone modifications, while retaining the original designated base sequence using, the LNCaP and PC-3 prostate cancer cell lines, respectively.

prostate cancer


Input: This work aimed to investigate the occurrence of Asn and Ser FSHR gene variants and its relationship with seminal anti-Müllerian hormone (AMH) among normozoospermic and infertile oligoasthenozoospermic (OAT) males.

OAT

infertile


Input: To elucidate the functional state of T cells in guttate psoriasis, we analysed mRNA expression levels of T-bet and GATA-3 for Th1 and Th2 differentiation, respectively together with Th1 (IFN-γ) and Th2 (IL-4) cytokine mRNA expression.

T-bet

guttate psoriasis


Input: This study examines the role of endothelial Nox4 in ischemia-induced angiogenesis and explores the potential mechanisms involved.

ischemia


Input: The interaction between Fas and Fas ligand (FasL) is supposed to be one of the mechanisms for liver dysfunction in ANKL.

Fas ligand

liver dysfunction


Input: Positive correlation (P < 0. 05) was found between Interferon-gamma and T-Bet levels in CT-positive fertile women and IL-4 mRNA and GATA3 levels in CT-positive infertile patients upon IncB and IncC stimulation.

infertile


Input: These data indicate that cocaine administration induces early NADPH-driven O2-. release which may play an important role in the development and progression of the LV dysfunction observed after chronic cocaine abuse.

NADPH

cocaine abuse

NADPH

cocaine abuse


Input: Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome.

FMRP

Fragile X syndrome

FMRP

Fragile X syndrome


Input: We tested whether this potentially functional allele in the NOS2 gene influences the development of atopy and asthma.

NOS2 gene

atopy


Input: Recent studies have also shown that ABCG4, a close relative of ABCG1, controls platelet production, atherosclerosis, and thrombosis.

atherosclerosis


Input: Polycythemia in a physician secondary to self-administered growth hormone, testosterone, and dehydroepiandrosterone to prevent aging.

growth hormone

Polycythemia

growth hormone

Polycythemia


Input: A group of chromosomal translocations involving the EWS gene and a member of the Ets transcription factor family of genes has been detected in EWS/PNET, and heterogeneity in the precise breakpoint of the translocation has been shown to generate a group of related fusion transcripts that may have prognostic significance.

EWS

translocation


Input: In this study, we evaluated the associations between smoking cigarettes and polymorphisms of the NAT2 and GSTM-1 genes using data obtained from an incident case-control study of 1993 cases of colon cancer and 2410 age-and sex-matched controls.

smoking


Input: The CCl (4) and thioacetamide treatment led to an increase of hepatic Cxcl4 levels, platelet activation, and aggregation in early fibrosis in mice.

fibrosis


Input: The remote ATOH7 element appears to act as a secondary or' shadow' transcriptional enhancer.

secondary


Input: In our present study, we investigated the potential role of WT1 gene in human colon cancer.

colon cancer

colon cancer


Input: We examined the expression of the putative tumor suppressor gene deleted in colorectal carcinoma (DCC) in human colon adenoma tissues and cell lines.

DCC

colon adenoma


Input: They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH levels and low levels of insulin-like growth factor (IGF)-I, IGF-II, insulin-like growth factor-binding protein 3 (IGFBP-3), and GH-binding protein (the solubilised extracellular domain of the GH cell surface receptor).

IGF

depressed nasal bridge


Input: The aim of the study was to evaluate the function of CD4 + CD25 + and Foxp3 + T (Treg) cell and related cytokine in the Uygur patients with cervical carcinoma and CIN (cervical intraepithelial neoplasia).

cervical intraepithelial neoplasia


Input: Our previous microarray analyses showed that the gene kallikrein-related peptidase 13 (KLK13) was down-regulated in oral squamous cell carcinoma (OSCC) cell lines.

squamous cell carcinoma


Input: Taspase1 cleaves MLL1 to activate cyclin E for HER2/neu breast tumorigenesis.

tumorigenesis


Input: We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers.

CS

CS


Input: Active caspase-3 was subsequently increased, and 85% of the hippocampal CA1 neurons showed apoptotic DNA damage 3 d after ischemia.

ischemia


Input: Addition of exogenous SPARC, as well as ectopic expression by an adenoviral vector, resulted in decreased proliferation of ovarian cancer cell lines.

SPARC

ovarian cancer

SPARC

ovarian cancer


Input: These findings indicate that both Th1-and Th2-type as well as T regulatory cells are present in NLS and LS in canine atopic skin.

atopic


Input: CD26 expression may explain the abnormal extramedullary spread of CML LSC, and inhibition of CD26 may revert abnormal LSC function and support curative treatment approaches in this malignancy.

LSC

malignancy


Input: We conclude that inappropriate activation of AMPK secondary to the T400N PRKAG2 mutation is associated with the early activation of NF-kappaB and Akt signaling pathway, which mediates cardiac hypertrophy.

cardiac hypertrophy


Input: Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.

Kabuki syndrome

Kabuki syndrome


Input: A mammary tumor-derived cell line, Hs578T, which proliferates in an EGF-independent manner, does not express detectable levels of AR and is not growth inhibited by heparin.

EGF

mammary tumor


Input: These findings suggest that TRalpha might be involved in tumorigenesis, and that interactions between the TRalpha and nm23 genes might take part in hematogenous metastasis of gastric cancer.

tumorigenesis


Input: Liver X receptor-alpha (LXR-alpha), being a member of the nuclear receptor/transcription factor family, has been widely recognized to have a pleiotropic effect in the regulation of genes involved in innate immunity, inflammation and cholesterol homeostasis.

Liver X receptor-alpha

inflammation


Input: The properties of homologues to several of the identified tumor-antigens, especially PLU-1, SCP-1, DNEL2, CLOCK, and PIASx-alpha, suggest further investigation of their possible function in malignant melanoma.

malignant melanoma


Input: In this report we present the results of mutational analysis of the BRCA2 coding sequences in 105 high-risk individuals affected with breast cancer and/or ovarian cancer and previously found to be negative for mutations of the BRCA1 coding sequence in our laboratory.

breast cancer

breast cancer


Input: The aim of this study was to determine EDN3 and EDNRB messenger RNA (mRNA) levels in tissue samples from patients with sporadic Hirschsprung disease.

sporadic


Input: The aim of this study was to test the influence of mutation of A9 region in EphB2 gene in the prognosis of patients with sporadic CCR.

EphB2 gene

sporadic


Input: In particular, it has been suggested that p53 mutations occur less often in RER-positive (RER +) sporadic colorectal cancers.

sporadic


Input: Immunohistochemistry for agrin was performed on 25 HCC, 16 intrahepatic CCC, 20 colorectal cancer metastasis (CRCm), and 18 pancreatic ductal carcinoma metastasis (PDCm) samples and evaluated with both quantitative and qualitative methods.

HCC

pancreatic ductal carcinoma


Input: Thus, imatinib may be very effective for treating the early cardiac involvement of FIP1L1-PDGFRA-positive CEL, but it needs to be used cautiously.

CEL

CEL


Input: SPHK1-2, SGPP1-2, SGPL1, SPHKAP, and S1PR1-5 messenger RNA expression by quantitative real-time polymerase chain reaction (PCR) in the endometrium of 15 disease-free women, 16 eutopic and 16 ectopic endometrium of endometriosis-affected women.

endometriosis


Input: Thus, germline mutations/rare variants in CDKN1A, CDKN2B, and CDKN2C likely contribute to the development of a significant subgroup of common sporadic parathyroid adenomas, and somatic mutation in CDKN2C further suggests a direct role for CDKI alteration in conferring a selective growth advantage to parathyroid cells, providing novel support for the concept that multiple CDKIs can play primary roles in human neoplasia.

somatic mutation


Input: The SNPs in codon 680 and at position-29 of the FSHR gene were analyzed by PCR-RFLP technique in 240 men with proven fathers, and 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic).

FSHR gene

infertile


Input: With the capacity to participate in thermogenesis and energy balance, UCP3 is an important obesity candidate gene.

obesity

obesity


Input: Conserved CDR 3 region of T cell receptor BV gene in lymphocytes from bronchoalveolar lavage fluid of patients with idiopathic pulmonary fibrosis.

CDR

idiopathic pulmonary fibrosis


Input: Analysis of covariance (using coma days as the covariate to control for differences in initial severity of injury between subjects with and without APOE epsilon4) revealed a significant difference for both total FIM and motor FIM scores between the subjects with and without APOE epsilon4.

FIM

coma


Input: A novel complex heterozygous variant of PDE6B gene in a sporadic case, a T to C transition in codon 323 resulting in the substitution of Gly by Ser and two bp (TG) inserted between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in the same isolate RP.

PDE6B gene

sporadic


Input: Increased concentrations of fibrinogen, D-Dimer, factor VIII, factor IX and factor XI were found in 15, 7, 7, 6 and 2 patients, respectively, all obese.

factor VIII

fibrinogen


Input: Roles of stem cell factor/c-Kit and effects of Glivec/STI571 in human uveal melanoma cell tumorigenesis.

stem cell factor

uveal melanoma


Input: Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.

mild


Input: Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.

tumorigenesis


Input: In all rats, blood glucose, insulin, hemoglobin A1c (HbA1c), fibrinogen, factor VII (FVII), plasminogen activator inhibitor-1 (PAI-1), fibrin degradation products (FDP), protein C, antithrombin III (ATIII), malondialdehydes (MDA), and antioxidants (superoxide dismutase, catalase, glutathione peroxidase, glutathione) were measured.

ATIII

fibrinogen


Input: Possible mechanisms between low HLA G expression and resistance to infections as well as potential relationships between infections in early life and susceptibility to BD are discussed.

HLA G

BD

HLA G

BD


Input: In conclusion, the homozygous DHFR mutation p. Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid.

DHFR

DHFR deficiency

DHFR

DHFR deficiency


Input: The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1.

KPA

KPA


Input: Furthermore, ALDH2 504Lys was associated with several metabolic traits, eg, lower levels of high-density lipoprotein cholesterol and liver enzymes-AST, ALT, and γGTP-by interacting with alcohol intake.

AST

alcohol intake


Input: Here, we generated two types of survivin-responsive m-CRAs (Surv. m-CRAs), Surv. m-CRA-CMVp and Surv. m-CRA-OCp, which use two and three different mechanisms to target cancer, that is, early region 1A (E1A) regulated by the survivin promoter and mutated E1BΔ55K regulated by the ubiquitously active cytomegalovirus promoter and cancer/tissue-specific osteocalcin promoter, respectively, and carefully examined their safety and anticancer effects.

CRA

cytomegalovirus


Input: The linearity experiment for Amplicor had regression of observed values compared to expected values (y = 1. 073x-0. 247; R (2) = 0. 993, n = 32; for HC2, y = 0. 855x + 0. 759, R (2) = 0. 729, n = 18).

regression


Input: PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.

schizophrenia

schizophrenia


Input: In vivo toxicity studies demonstrated no effect of EGTA, C10, or C12 on weight gain, lung edema, or bronchoalveolar lavage fluid (BALF) albumin.

weight gain


Input: Some investigators did not show differences in prognosis between positive and negative cases after a long follow-up period whereas investigations with a short term follow-up period up to 2-3 years have indeed established a more aggressive behaviour of c-erbB-2 overexpressionary tumours.

aggressive behaviour


Input: In this review, we discussed that HGF is a member of the endothelium specific growth factors whose serum concentration is significantly associated with blood pressure.

HGF

blood pressure


Input: In conclusion, in vivo gene transfer of eNOS, but not iNOS or eNOS plus iNOS, regressed atherosclerosis.

eNOS

atherosclerosis

eNOS

atherosclerosis


Input: A t (4; 16) (q26; p13. 1) chromosome translocation found in tumour cells from a patient with a T cell lymphoma was shown to rearrange the interleukin 2 gene, normally located on chromosome band 4q26, with sequences from chromosome band 16p13. 1.

interleukin 2 gene

chromosome translocation


Input: Within the CAD patient group, dose-response curves of L-selectin showed significant differences in the presence of hypertension, dyslipidemia, coronary occlusion and degree of stenosis, whereas CD11b expression had the strongest discriminating power after single dose stimulation.

L-selectin

stenosis


Input: We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status.

hormone receptor

smoking


Input: Mice in which one copy of Ptch1 is inactivated show increased susceptibility to spontaneous tumor development and hypersensitivity to radiation-induced tumorigenesis, providing an ideal in vivo model to study the typical pathologies associated with basal cell nevus syndrome.

hypersensitivity


Input: The seminal' two-hit hypothesis' implicitly assumes that bi-allelic tumour suppressor gene (TSG) mutations cause loss of protein function.

TSG

hit


Input: 271 HBV infected patients were recruited in this study out of these 109 were spontaneously recovered and 162 were diagnosed to be having persistent HBV infection which includes 48 chronic hepatitis, 84 liver cirrhosis, 30 HCC cases and were compared with 280 healthy controls.

HCC

chronic hepatitis


Input: This review outlines the current understanding of Cygb' s involvement in tumor hypoxia and discusses its role in tumorigenesis.

Cygb' s

tumorigenesis


Input: We aim to check if serum levels of receptor for advanced glycation endproduct (RAGE) ligands S100B, S100A6 and S100P were related to myocardial injury in acute coronary syndrome (ACS).

acute coronary syndrome


Input: C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome


Input: In conclusion, our results suggested that the Thr495Pro polymorphism of GHR was associated with the risk of lung cancer in a redundant interaction with smoking and familial history of cancer.

GHR

smoking


Input: Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c. 992T & gt; G (p. L331R) in exon 11 and c. 1094G & gt; A (p. R365Q) in exon 13 of the gene.

PORCN

FDH

PORCN

FDH


Input: These findings suggest that, through expression of CXCL5, eosinophils can recruit and activate CXC receptor 2 (CXCR2)-bearing cells such as neutrophils at sites of inflammation.

inflammation


Input: The expression of the FA genes FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCJ, FANCL and FANCM in 11 HNSCC cell lines and 49 tongue carcinoma samples was studied with quantitative real-time polymerase chain reaction.

FANCL

tongue carcinoma


Input: It also inhibited CCI-induced inflammation and T cell activation, by decreasing spinal cord TNF-α, IL-2 and NF-κB p65 levels.

inflammation


Input: Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B.

Hirschsprung disease-mental retardation syndrome

Hirschsprung disease-mental retardation syndrome


Input: Immunoblotting analysis showed a decrease in the immunoreactivity of phosphorylated CREB (pCREB) in the ipsilateral hemisphere on the third day after microsphere embolism, whereas that of the total CREB was not altered.

CREB

embolism


Input: Both salusin-β-induced VCAM-1 induction and monocyte/HUVEC adhesion were suppressed by pharmacological inhibitors of NF-κB, e. g., Bay 11-7682 and curcumin.

salusin-β

adhesion


Input: In addition to detecting the most common ACC translocation, t (6; 9) fusing the MYB proto-oncogene to NFIB, we also detected previously unknown t (8; 9) and t (8; 14) translocations fusing the MYBL1 gene to the NFIB and RAD51B genes, respectively.

translocation


Input: Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na +/K + balance maintained by downregulation of ENaC activity and upregulation of ROMK.

ROMK

hyperkalemia


Input: PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

sporadic


Input: Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue.

CBG

CBG deficiency

CBG

CBG deficiency


Input: There was no evidence of CD4 (+) T-cell loss, and plasma viremia was controlled to undetectable levels by 6 weeks postchallenge and has remained suppressed out to 22 weeks postchallenge.

viremia


Input: The objective of this study was to test whether levels of proinsulin immunoreactivity (PIM) relative to those of insulin immunoreactivity (IRI) or C-peptide are changed and related to subclinical beta-cell dysfunction in siblings of insulin-dependent diabetes mellitus (IDDM) patients.

PIM

insulin-dependent diabetes mellitus


Input: Therefore, our goal was to systematically determine SSTR2 expression in benign cold thyroid nodules (CNs), hot thyroid nodules (HNs), papillary carcinomas (PCs), and Graves' disease (GD) in comparison with intraindividual control tissues by means of immunohistochemistry.

cold


Input: PAR-2 is known to exert proinflammatory actions in a murine model of arthritis, since PAR-2-deficient mice exhibit strikingly reduced articular inflammation.

PAR

arthritis


Input: The orexin-2/hypocretin-2 (OX2R) receptor gene is mutated in canine narcolepsy and disruption of the prepro-orexin/hypocretin ligand gene results in both an animal model of narcolepsy and sporadic cases of the human disease.

sporadic


Input: We report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations.

ARTEMIS

OS

ARTEMIS

OS


Input: We found that hypoxia expands different breast stem/progenitor cell populations (cells with increased aldehyde dehydrogenase activity (Aldefluor +), high mammosphere formation capacity and CD44 + CD24-/low cells) both in primary normal epithelial and tumor cells.

hypoxia


Input: Fluorescence in situ hybridization---using a set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and usually show the translocation as fusion (red-green) signal on der (22)---showed a fusion signal on der (11) suggesting an insertion as the mechanism that led to the EWS-FLI-1 gene rearrangement.

EWS

translocation


Input: Heterozygous mutations occurring in F13A1 and F13B genes causing mild FXIII deficiency have been reported only in the last few years primarily because the mild FXIII deficiency patients are often asymptomatic unless exposed to some kind of a physical trauma.

mild


Input: We also examined whether factors associated with DNA damage, such as smoking and antioxidant intake, modified the association between XRCC1 polymorphisms and breast cancer.

smoking


Input: In the present study, we report that miR-520b suppresses cell proliferation in HCC through targeting the ten-eleven translocation 1 (TET1) mRNA.

HCC

translocation


Input: In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED).

ACG

diastrophic dysplasia


Input: Thus, we confirm that 1) a gain of function mutation in the fifth transmembrane domain of the CaR causes severe familial hypoparathyroidism by rendering the receptor more sensitive than normal to activation by Ca2 + e; 2) some patients in the family do not experience seizures despite their severe hypocalcemia; and 3) this condition needs to be differentiated from other causes of hypoparathyroidism.

hypoparathyroidism


Input: No relation is found between SLC activity and target organ damage which includes coronary artery disease, peripheral arterial occlusive disease, left ventricular hypertrophy and cerebrovascular accident.

SLC

cerebrovascular accident


Input: Further, dietary TCDF inhibited the farnesoid X receptor (FXR) signaling pathway, triggered significant inflammation and host metabolic disorders as a result of activation of bacterial fermentation, and altered hepatic lipogenesis, gluconeogenesis, and glycogenolysis in an AHR-dependent manner.

AHR

metabolic disorders

AHR

metabolic disorders


Input: In the present study, MMP-9, uPAR and cathepsin B genes were downregulated in glioma xenograft cells using shRNA plasmid constructs and we evaluated the involvement of integrins and changes in their adhesion, migration and invasive potential.

cathepsin B

adhesion


Input: When we used the median expression levels of the NER proteins in the controls as cutoff values, we found that a significantly increased risk of SCCHN was associated with low expression of XPA [odds ratio (OR), 2. 99; 95% confidence interval (CI), 1. 22-7. 47], XPC (OR, 2. 46; 95% CI, 1. 04-5. 87), XPD (OR, 3. 02; 95% CI, 1. 18-7. 76), and XPF (OR, 5. 29; 95% CI, 2. 01-13. 9), but not ERCC1 and XPG, after adjustment for age, sex, ethnicity, smoking, alcohol use, and sample storage time.

NER

alcohol use


Input: Reporter assay, cell proliferation assay, and xenotransplantation experiments were used to show the functional consequence and importance of Pin1-HBx interaction in hepatocarcinogenesis.

hepatocarcinogenesis


Input: New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

cleidocranial dysplasia

cleidocranial dysplasia


Input: The t (12; 21) translocation that generates the ETV6-RUNX1 (TEL-AML1) fusion gene, is the most common chromosomal rearrangement in childhood cancer and is exclusively associated with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).

BCP

translocation


Input: Importantly, this model fails to account for the potential loss of wild type (WT) Nup98 function in the presence of Nup98 translocation mutants.

translocation


Input: Interleukin-23 receptor (IL23R) can interact with IL-23 and, thus, is involved in the T-helper 17 (Th17) cell-mediated inflammatory process as well as tumorigenesis.

tumorigenesis


Input: Translocation (10; 11) (p13; q13) and MLL gene rearrangement in a case of AML (M5a) with aggressive leukemia cutis.

leukemia cutis


Input: The effect of the 5-HT4 antagonists GR113808A and GR125487D on cocaine-induced cardiac arrhythmia was examined in the rat. Cocaine alone, given i. v. at a rate of 2 mg/kg every 5 min, produced an initial increase in blood pressure followed by a severe drop in pressure and bradycardia.

cardiac arrhythmia

cardiac arrhythmia


Input: MHO was defined by waist circumference, low-density lipoprotein (LDL-C) cholesterol, high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs), systolic blood pressure (SBP), diastolic blood pressure (DBP), and glucose.

DBP

systolic blood pressure


Input: The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy.

myopathy


Input: Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia


Input: In cultured human esophageal epithelial (HET-1A) cells, misoprostol increased intracellular cAMP levels (by 163-fold), induced phosphorylation of CREB, and stimulated VEGF expression.

CREB

esophageal


Input: Genetic variations in PPARD and PPARGC1A determine mitochondrial function and change in aerobic physical fitness and insulin sensitivity during lifestyle intervention.

insulin sensitivity


Input: Polymerase chain reaction and restriction fragment length polymorphism methods were performed to detect the IGF2 ApaI and IGF2R Gly1619Arg genotypes in 98 Croatian men with idiopathic infertility and 113 fertile men.

infertility


Input: In addition, we evaluated the potential benefit, for prediction accuracy, of a recently described non-invasive fibrosis staging assay, the Enhanced Liver Fibrosis (ELF) test.

ELF

fibrosis


Input: There was no significant difference observed in the allelic and genotypic distribution between the BPAD and control groups for cPLA2 (genotype: chi2 = 0. 8, 2df, p = 0. 6; allele chi2 = 0, 1df, p = 0. 9), iPLA2 (genotype: chi2 = 1. 7, 2df, p = 0. 4; allele: chi2 = 0. 3, 1df, p = 0. 6), and sPLA2 (allele: chi2 = 3. 6, 6df, p = 0. 8).

BPAD

BPAD


Input: Tumor formation by Fe-irradiated cells is accompanied by rampant genomic instability and multiple genomic changes, the most interesting of which is loss of the p15/Ink4b tumor suppressor due to deletion of a chromosomal region harboring the CDKN2A and CDKN2B loci.

genomic instability


Input: On statistical analysis (limited to the larger no-retinopathy group), a predominance of Hp1-1 was noted in older patients; Hp2-2 was associated with an increased rate of stroke.

retinopathy


Input: Parthenolide (PTL) is a sesquiterpene lactone which can induce apoptosis in cancer cells and eradicate cancer stem cells such as leukemia stem cells, prostate tumor-initiating cells and so on.

PTL

leukemia


Input: The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease.

intervertebral disc disease

intervertebral disc disease


Input: All subjects' blood pressure (systolic blood pressure, SBP; diastolic blood pressure, DBP), biochemical values, plasma homocysteine, pyridoxal 5'-phosphate (PLP), serum folate, vitamin B12 concentrations, and methylenetetrafolate reductase (MTHFR) 677C--> T gene polymorphism were measured.

T gene

blood pressure


Input: Association of the minor allele of rs2231142 with gout was observed in the Pacific Island samples (OR = 2. 80, P (STRAT) < 0. 001 after accounting for effects of population structure), but not in the Māori samples (OR = 1. 08, P (STRAT) = 0. 70), with heterogeneity in association evident between the Māori and Pacific Island datasets (P (HET) = 0. 001).

HET

gout


Input: Polymorphism in the androgen receptor and mammographic density in women taking and not taking estrogen and progestin therapy.

androgen receptor

mammographic density


Input: Among pale-skinned individuals alone, this association between CMM and MC1R variants was absent, but it persisted among those reporting a medium or olive/dark complexion.

CMM

pale


Input: The average numbers of methylated genes were 0, 1. 27, 1. 38 and 2. 72 for normal livers, chronic hepatitis, cirrhosis and HCCs, respectively, and this progressive increase from normal livers to chronic hepatitis/cirrhosis through HCC may suggest that tumor suppressor gene methylation is an early event in hepatocarcinogenesis.

HCC

chronic hepatitis


Input: Treatment with beta-aminopropionitrile, an irreversible inhibitor of LOX activity, dramatically reduced diffuse mineralization but had no effect on PTH-induced fibrosis.

PTH

fibrosis


Input: Whether the cyclooxygenase (COX) pathway contributes to intermittent hypoxia-induced atherosclerosis remains to be determined.

COX

hypoxia


Input: DNA ploidy and synthetic phase fraction (SPF) of 52 cases of primary intracranial neoplasms have been determined from fresh tissues and the data was correlated with histopathological typing and grading.

SPF

intracranial neoplasms


Input: JNK1 and JNK2 have broad tissue distribution and play a potential role in insulin resistance, inflammation and cell signaling.

insulin resistance


Input: Atad5 (+/m) mice displayed high levels of genomic instability in vivo, and Atad5 (+/m) mouse embryonic fibroblasts (MEFs) exhibited molecular defects in PCNA deubiquitination in response to DNA damage, as well as DNA damage hypersensitivity and high levels of genomic instability, apoptosis, and aneuploidy.

hypersensitivity


Input: The TIMP3 (-1296T > C) was associated with recurrent pneumonia in the dominant model (P (adj) = 0. 0031, P (cor) = 0. 031, OR = 1. 91).

recurrent pneumonia


Input: In this paper, we describe two novel HGD mutations in a Chinese AKU family, the splicing mutation of IVS7 + 1G & gt; C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12.

HGD

AKU

HGD

AKU


Input: Plasma bilirubin and the early fractional hepatic uptake rate (BSP K (1)) of a low dose of tetrabromosulfophthalein (0. 59 micromol/kg) were determined in (1) 15 unrelated patients with unconjugated hyperbilirubinemia plus 12 random controls; (2) 4 unrelated GS probands and 15 of their first-degree relatives; (3) 7 unrelated patients with hemolysis due to beta-Thalassemia minor.

BSP

hemolysis


Input: Thus, we have developed a novel fluorescence in-situ hybridization and primed in-situ hybridization (PRINS) approach and rapidly localized the breakpoint of a non-recurrent 22q11. 2 translocation, a t (4; 22).

PRINS

translocation


Input: A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation.

BVMD

BVMD


Input: Previous studies have identified mutations in the RSPO4 and LMX1B components of the Wnt pathway in patients with the hypoplastic nail disorders anonychia and nail-patella syndrome, respectively.

nail-patella syndrome


Input: We determined whether the functional intronic G1675A or A1818T polymorphism of the X-chromosomal AT2 gene is associated with blood pressure levels or with kidney function.

blood pressure


Input: This study was undertaken to investigate the mechanism for the decrease in Se-GPX1 activity during iron deficiency.

iron deficiency


Input: Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.

HHD

HHD


Input: Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low concentration of PTH and relative hypercalciuria.

ADH

hypercalciuria


Input: Although LR11 was reduced in sporadic AD, there was no difference in protein level or staining intensity between control and FAD cases.

FAD

sporadic


Input: Furthermore, the expression of PTK6 protein in 210 ESCCs was examined with immunohistochemistry (IHC), and its clinical value was analyzed using Kaplan-Meier plots and the Cox proportional hazards regression model.

regression


Input: The mother' s heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome.

TARP syndrome

TARP syndrome


Input: Forced overexpression of miRNA-214 significantly suppressed cell proliferation, cell cycle progression, colony-formation, and migration of cervical cancer Hela and Caski cells; however, upregulation of TFAM notably promoted cell proliferation, cell cycle progression, colony-formation, and migration of Hela and Caski cells.

TFAM

cervical cancer


Input: However, the expression of SARI in leukemia and the underlying regulatory mechanism remain elusive.

SARI

leukemia


Input: Because the lh/lh genetic model of absence seizures correctly predicted effects of ESM, clonazepam, VPA, PHT, CBZ, and PB against human absence seizures, we performed this study to test the predictive utility of the lh/lh model for LTG, VGB, TGB, GBP, and TPM.

TGB

absence seizures


Input: The human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively.

choroideremia


Input: For the inhibition of catalepsy CCK-8-NS was the more active as it decreased catalepsy scores even 120 min after administration.

catalepsy

catalepsy


Input: A case-control study conducted in Italy between 1992 and 1994, including 316 women with incident, histologically confirmed CMM and 308 controls, admitted to the same network of hospitals as cases for acute, non-dermatological, and non-neoplastic conditions.

CMM

non-neoplastic


Input: Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.

PDGFRB

regression


Input: Role of lung apolipoprotein A-I in idiopathic pulmonary fibrosis: antiinflammatory and antifibrotic effect on experimental lung injury and fibrosis.

apolipoprotein A-I

fibrosis


Input: We used a recently described molecular strategy, TAT-mediated protein transfer, to acutely introduce the NF2 protein, merlin, into primary human schwannoma cells in an attempt to reverse the cytoskeletal phenotype.

TAT

schwannoma


Input: The proportions of BAL CD4 + and PB CD4 + T cells expressing IL-18Ralpha were significantly increased in patients with sarcoidosis compared to control subjects.

sarcoidosis


Input: We performed in vitro co-culture and in vivo tumor growth analysis, showing that MSC did not affect the proliferation of Rif-1 cells and fibrosarcoma growth compared with an untreated control group.

MSC

fibrosarcoma


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

neutrophilia


Input: Fourteen FCHL patients received 4 capsules daily of Omacor (an omega-3 polyunsaturated fatty acid [omega3 FA] concentrate providing 1. 88 g of eicosapentaenoic acid [EPA] and 1. 48 g of docosahexaenoic acid [DHA] per day; Pronova Biocare, Oslo, Norway) or placebo for 8 weeks in a randomized, double-blind, crossover study.

EPA

blind


Input: We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21.

breast cancer

breast cancer


Input: In addition, we investigated risk modifiers of AoVC, including the presence of LDLR mutations without residual function (LDLR-negative mutations), maximum untreated LDL-cholesterol (maxLDL), LDL-C, blood pressure, and coronary artery calcification (CAC).

CAC

coronary artery calcification


Input: The angiotensin-converting enzyme (ACE) deletion allele, ACE D, is associated with increased cardiac ACE activity, cardiac fibrosis, and adverse outcomes in cardiovascular disease and has been linked with failure of antiatrial fibrillation (anti-AF) drug treatment.

ACE

fibrillation


Input: Imatinib mesylate induces cisplatin hypersensitivity in Bcr-Abl + cells by differential modulation of p53 transcriptional and proapoptotic activity.

hypersensitivity


Input: Initial screening produced 20 hit molecules, 14 of which exhibited dose-dependent activation of the utrophin promoter and were confirmed as hits.

utrophin

hit


Input: APOBEC3B messenger RNA is upregulated in most primary breast tumours and breast cancer cell lines.

breast tumours

breast tumours


Input: Pentraxin-3 (PTX3), an acute-phase protein released during inflammation, aids phagocytic clearance of pathogens and apoptotic cells, and plays diverse immunoregulatory roles in tissue injury.

inflammation


Input: Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).

MCEE

microsatellite instability


Input: Stromal expression of CD10 in invasive breast carcinoma: a new predictor of clinical outcome.

invasive breast carcinoma


Input: During iron deficiency, Se-GPX1 mRNA levels in liver tissue were decreased by approximately 55%.

iron deficiency


Input: An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

LCAT

fish eye disease

LCAT

fish eye disease


Input: Overexpression of AGT (encoded by the methylguanine DNA methyltransferase-MGMT-gene) is known to block MNU induced tumorigenesis in mice with functional MMR.

MMR

tumorigenesis


Input: The latter feature appears to be characteristic of benign carcinoids and may contribute to explaining the CRH-independent circadian rhythm observed in this case.

CRH

circadian rhythm


Input: PTN expression was observed in epiretinal membranes from patients.

PTN

epiretinal membranes


Input: This initial study identified differences in the distribution of PAX7 alleles in DNA from patients with the skeletal muscle myopathy, dermatomyositis.

dermatomyositis


Input: In the present study, we evaluated the therapeutic efficacy of a replication-incompetent adenovirus expressing IGFBP7 (Ad. IGFBP7) in human HCC.

HCC

adenovirus


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

depression

depression


Input: Association of a BLVRA common polymorphism with essential hypertension and blood pressure in Kazaks.

BLVRA

blood pressure


Input: Accidentally, we observed a complete response (CR) in a patient undergoing chemotherapy with bleomycin, vincristine or Oncovin, CCNU or lomustine, dacarbazine (BOLD) regimen for metastatic melanoma including brain metastases, who was also treated with G-CSF to manage a concomitant leukopenia.

G-CSF

leukopenia

G-CSF

leukopenia


Input: Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

EPRS

Hypomyelinating Leukodystrophy

EPRS

Hypomyelinating Leukodystrophy


Input: Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly.

microlissencephaly

microlissencephaly


Input: TyrCre +; Rb1fl/fl mice exhibited no melanocyte defects but died unexpectedly early with intestinal obstruction, striking defects in the enteric nervous system (ENS), and abnormal intestinal motility.

ENS

intestinal obstruction


Input: The data taken together indicate that HG shifts the immune balance toward pro-inflammatory/Th1 phenotype in mesangial cells and TECs, which might initiate and/or prolong inflammation, thereby resulting in diabetic nephropathy.

inflammation


Input: The podoplanin gene (PDPN) is transcribed in cells derived from sarcomas, embryonal carcinomas, squamous cell carcinomas and endometrial tumours, while cell lines derived from colon, pancreatic, ovarian and ductal breast carcinomas do not express PDPN transcripts.

PDPN

sarcomas


Input: For lipophilin C, a somatic mutation (T to C transition at positions 409 and 412) was found in human tumor samples and absent in normal prostate tissue.

lipophilin C

tumor


Input: Moreover, during IVF and embryo transfer (IVF-ET) treatment, fewer mature oocytes (P < 0. 05) and lower fertilization rate (P < 0. 01) were found in BDNF (Met/Met) carriers compared with those in BDNF (Val/Val) carriers with infertility.

BDNF

infertility


Input: We tested for mutations in the keratin 8 and keratin 18 genes in purified genomic DNA isolated from 150 explanted livers and 89 peripheral-blood specimens from three groups of patients: 55 patients with cryptogenic liver disease; 98 patients with noncryptogenic liver disease, with causes that included alcohol use, autoimmunity, drug use, and viral infections; and 86 randomly selected inpatients and outpatients who provided blood to the hematology laboratory.

keratin 18

autoimmunity


Input: Food-grade bacteria expressing elafin protect against inflammation and restore colon homeostasis.

elafin

inflammation


Input: The aim of this study was to analyze whether erythema nodosum could represent an example of a polarized Th1 or Th2 immune response.

erythema nodosum


Input: The total MRI score and MRI erosion score increased significantly from baseline to one year despite falls in clinical measures of inflammation including erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and swollen joint count (p < 0. 01 for all).

MRI

inflammation


Input: This study investigated the role of LOX in promoting invasion and metastasis of epithelial ovarian cancer in a hypoxic environment and its specific signal transduction pathway.

LOX

hypoxic


Input: One hundred and fourty-eight patients with chronic HCV infection (45 chronic hepatitis, 53 cirrhosis, 50 HCC) and 50 controls were evaluated.

HCC

chronic hepatitis


Input: Gel mobility shift assays demonstrated that only SP-1 binding activity was increased 1 h after exposure to bFGF or TNF-alpha, and also that AP-1, but not SP-1, activity was significantly activated by hypoxia.

hypoxia


Input: NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

insulin receptor

NIDDM

insulin receptor

NIDDM


Input: VEGI, a novel cytokine of the tumor necrosis factor family, is an angiogenesis inhibitor that suppresses the growth of colon carcinomas in vivo.

VEGI

carcinomas


Input: In conclusion, these agents induced DNA damage followed by the inhibition of DNA repair-associated gene expressions, including ATM, ATR, 14-3-3sigma, BRCA1, DNA-PK and MGMT in SCC-4 human tongue cancer cells.

ATM

tongue cancer


Input: The frequency of p53 over-expression was 126/200 (63. 0%) in sporadic cancers and 4/120 (3. 3%) in adenomas.

sporadic


Input: Blood levels of homocysteine, factor VIII, and fibrinogen were significantly higher and factor II levels were significantly lower in hemodialysis patients than in controls, whereas factor VII, factor IX, and natural coagulation inhibitor levels were similar in patients and controls.

factor II

fibrinogen


Input: beta-Cell-specific overexpression of glutathione peroxidase preserves intranuclear MafA and reverses diabetes in db/db mice.

MafA

diabetes


Input: Additionally, part, if not all, of the nerve growth factor receptor locus is present on the translocated portion of 17q (17q21-qter) from a poorly differentiated acute leukemia in which the chromosome 17 breakpoint was indistinguishable cytogenetically from the 17 breakpoint observed in the t (15; 17) (q22; q21) translocation associated with acute promyelocytic leukemia.

nerve growth factor receptor

translocation


Input: Loss-of-heterozygosity (LOH) has been studied on 3p (von Hippel-Lindau gene locus), 5q and 17p (p53 gene locus) by a polymerase chain reaction (PCR)-based strategy in 42 sporadic renal cell carcinomas (RCC).

p53 gene

sporadic


Input: Moreover, in silico meta-analysis of Oncomine' s cancer microarray database indicates that FOXF1 mRNA is overexpressed in a significant subset of colorectal adenocarcinoma tumors compared with normal colorectal tissue and other types of cancers.

colorectal adenocarcinoma


Input: Immunohistory revealed CD4 + and CD8 + T cells in lesions under rejection, but the predominant cells were macrophages, suggesting delayed-type hypersensitivity as a possible mechanism.

hypersensitivity


Input: The systolic blood pressure (SBP) and DBP of female patients taking reserpine were higher with the C and G alleles of rs3773661 (P = 0. 004) and rs7256241 (P = 0. 002), respectively.

DBP

systolic blood pressure


Input: Here we show that fibroblasts from sporadic Alzheimer' s disease (AD) patients specifically express an anomalous and detectable conformational state of p53 that makes these cells distinct from fibroblasts of age-matched non-AD subjects.

sporadic


Input: Analysis of HOXD1, MYC, TIPARP and SKAP1 at these loci and of BNC2 at 9p22 supports a functional role for these genes in ovarian cancer development.

MYC

ovarian cancer

MYC

ovarian cancer


Input: Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

holocytochrome c-type synthase

microphthalmia with linear skin defects syndrome

holocytochrome c-type synthase

microphthalmia with linear skin defects syndrome


Input: Ischemic preconditioning, ischemia/reperfusion-induced pancreatitis and their combination increased the presence of VEGF in acinar and islet cells, and immunostaining for PDGF-A in blood vessels.

PDGF-A

ischemia


Input: To elucidate the role of p53 in colon tumorigenesis in mice, we examined allele loss and mutational alteration of the p53 gene in colon tumors induced by 1, 2-dimethylhydrazine (DMH) in F1 hybrid mice.

DMH

tumorigenesis


Input: We conducted a case-control study in order to investigate the association of RAD51 135G > C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women. 48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included.

sporadic


Input: Using multi-temperature single-stranded conformational polymorphism and sequencing analysis, we identified three novel AXIN2 gene variants: c. 956 + 16A > G, c. 1060-17C > T and c. 2062C > T. We also observed that individuals carrying the c. 956 + 16G and c. 2062T alleles exhibited an increased risk of tooth agenesis.

tooth agenesis


Input: Overall, TTV-DNA was detected in 62 subjects (19. 6%): in 17. 9% of the HBsAg carriers, in 14% of the anti-HCV-positive patients (in 8. 3% and in 15. 5% of patients with and without chronic hepatitis, respectively), in 22. 2% of non-A-non-E hepatitis patients, in 22. 8% of IVDUs, in 57. 1% of fulminant hepatitis patients.

TTV

chronic hepatitis


Input: CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia.

MIM

nevus


Input: To assess the importance of Jak2/Stat5 signaling during mammary cancer initiation and progression, we generated a PRL-induced mammary cancer model that allows the functional ablation of the Jak2 gene in the mammary epithelium before and after neoplastic transformation.

Jak2 gene

neoplastic transformation


Input: Novel complex heterozygous variants of PDE6B gene in a sporadic case, a T to C transversion in codon 323 resulting in the substitution of Gly by Ser and 2 base pairs (bp: G and T) insert between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in a same isolate RP.

PDE6B gene

sporadic


Input: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

PIGL

CHIME syndrome

PIGL

CHIME syndrome


Input: BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

breast cancer

breast cancer


Input: The purpose of this study was to determine the effects of exogenous IL-4, introduced by a recombinant human type 5 adenovirus (Ad5) vector, on the tissue injury associated with an experimental model of colonic immune activation and inflammation.

inflammation


Input: Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia in PDAC.

SELP

cachexia


Input: A new interaction hypothesis was generated demonstrating that the following variables were associated with accelerated decline in GFR: albuminuria (estimate, 2. 12 ml/min per yr per 10-fold increase in albuminuria; P < 0. 001), mean BP (estimate, 0. 88 ml/min per yr per 10 mmHg; P = 0. 02), hemoglobin A (1c) (estimate, 0. 54 min/min per yr per 1%; P = 0. 02), and number of M (M235T)/D (ID)/A (A (1166)--> C) alleles (estimate, 0. 45 ml/min per yr per allele; P = 0. 049).

GFR

albuminuria


Input: HAART in HIV-infected patients: restoration of antigen-specific CD4 T-cell responses in vitro is correlated with CD4 memory T-cell reconstitution, whereas improvement in delayed type hypersensitivity is related to a decrease in viraemia.

viraemia


Input: In a Th2-dependent model of allergic pulmonary inflammation, CD4 (+) lymphocytes bearing CCR3, CCR5, and CXCR4 trafficked in reduced numbers to the lung after acute inhalation challenge with allergen (OVA).

inhalation


Input: We identified approximately 3. 5-fold significant downregulation of selenium-binding protein 1 (SBP1) in colorectal tumors compared to normal mucosa (p = 0. 003).

selenium-binding protein 1

colorectal tumors

selenium-binding protein 1

colorectal tumors


Input: The subclinical phenotypes of asymptomatic members of these families have not been evaluated with respect to TERT mutation status or telomere length.

TERT

asymptomatic


Input: In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

sporadic


Input: MDC1A is caused by mutation of the laminin & #945;-2 gene (LAMA2), localized to chromosome 6q22-23.


Input: CONCLUSION: The NEDD4L salt sensitivity-associated genotype was associated with higher blood pressure, which may translate into increased risk for CVD morbidity and mortality.

blood pressure


Input: In this study, we sought to permanently alter calcium fluxes via phospholamban (PLN) gene deletion in Tm180 mice in order to sustain long-term improvements in cardiac function and adverse cardiac remodeling/hypertrophy.

PLN

hypertrophy


Input: Role of p38 and JNK MAPK signaling pathways and tumor suppressor p53 on induction of apoptosis in response to Ad-eIF5A1 in A549 lung cancer cells.

lung cancer


Input: CT-1 caused a dose dependent nuclear factor (NF) kappaB translocation.

translocation


Input: Cx40 and Cx43 expression were investigated further in a renin-dependent model of hypertension, in which rats showed an increase in arterial mean blood pressure four weeks after clipping one renal artery [two kidney, one-clip (2K1C) model].

mean blood pressure


Input: A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.

follicle-stimulating hormone receptor

ovarian hyperstimulation syndrome

follicle-stimulating hormone receptor

ovarian hyperstimulation syndrome


Input: RESULTS: In large-scale screening of 16 SEREX-antigens by sera of breast cancer patients and healthy donors, a combination of six antigens (RAD50, PARD3, SPP1, SAP30BP, NY-BR-62 and NY-CO-58) was identified, which can differentiate breast cancer patients and healthy donors with 70% sensitivity and 91% specificity.

breast cancer


Input: The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip.

prominent forehead


Input: Knockdown of KDM1 expression or its pharmacological inhibition using pargyline or NCL-1 significantly reduced the proliferation of glioma cells.

glioma


Input: Furthermore, these data point towards a possible predictive impact of EFEMP1 expression in primary breast cancer.

breast cancer

breast cancer


Input: We investigated relationships between DNA copy number aberrations and chromosomal structural rearrangements in 11 different cell lines derived from oral squamous cell carcinoma (OSCC) by comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH).

FISH

squamous cell carcinoma


Input: Apoptosis-inducing factor and cyclophilin A cotranslocate to the motor neuronal nuclei in amyotrophic lateral sclerosis model mice.

neuronal nuclei

amyotrophic lateral sclerosis


Input: Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment. These genes are TJP2, DFNA5 and MSRB3.

hearing impairment

hearing impairment


Input: Statistically significant results were also obtained between the ECRG1 polymorphism and histophathological grade, smoking, dysphagia, low fruit/vegetable intake and salt tea consumption.

dysphagia


Input: The further analysis found that the expression of serum miR-130b-3p was positively correlated with 24-hour proteinuria and renal chronicity index in patients with early stage LN. Transfection of renal tubular cellline (HK-2) with miR-130b-3p mimics can promote epithelial-mesenchymal transition (EMT).

EMT

proteinuria


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

leiomyoma


Input: The subject' s mean age was 44. 7 (SD, 11. 7) years; 72% were white, and 51% male; 61% were receiving an AAP; the mean body mass index was 32. 6 (SD, 8. 2) kg/m, and 48% were current smokers.

AAP

body mass index


Input: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation characterised by a defect in natural killer cell function.

immune dysregulation


Input: We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors.

OPG

lymphangioleiomyomatosis


Input: No correlation was found between the changes in COMT activity and the psychopathological picture of depression or the severity of endogenous depressive syndrome.

COMT

depressive syndrome

COMT

depressive syndrome


Input: DSS administration to T cell-specific HIF-1α KO mice showed more severe colonic inflammation than control mice with the up-regulation of Th1 and Th17.

inflammation


Input: Moreover, the selective SYVN1 inhibitor LS-102 abolished the negative regulation of PGC-1β by SYVN1 and prevented weight gain in mice.

weight gain


Input: The workshop also highlighted how plasmacytic differentiation can occur in chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, SOX11 negative MCL, and particularly in marginal zone lymphomas, all of which can cause diagnostic confusion with LPL.

LPL

follicular lymphoma


Input: We identified 5 somatic BRCA2 mutations in a set of 23 sporadic male breast cancers (21%).

sporadic


Input: It was found that although the intron 2 MAOB (GT) (n) repeat polymorphism was not associated with PD in the population, a relationship might have been masked by the " protective effect " of tea drinking.

MAOB

drinking


Input: Mutation p. Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

EDA

hypohidrotic ectodermal dysplasia

EDA

hypohidrotic ectodermal dysplasia


Input: There are three conditions that are associated with hyperplastic changes in endocrine cells preceding GEP-NETs: autoimmune chronic atrophic gastritis or multiple endocrine neoplasia type 1 (MEN1) with gastric enterochromaffin-like (ECL) cell hyperplasia; MEN1 with gastrin and somatostatin cell hyperplasia in the duodenum and glucagon cell hyperplasia in the islets of the pancreas; and inflammatory bowel disease with endocrine cell hyperplasia in the colon.

GEP

hyperplasia


Input: Sex hormone-binding globulin gene expression and insulin resistance.

Sex hormone-binding globulin gene

insulin resistance


Input: We analyzed the haplotypes of families with recurrent MEN1 mutations with seven polymorphic markers in the 11q13 region surrounding the MEN1 gene (from D11S1883 to D11S4908).


Input: Concerning disease aggressiveness, HLA-DRB1 * 15 occurred more frequently in the group with benign disease (42. 6% vs 19. 9%, OR = 2. 99, 95% CI = 1. 56-5. 72) and in the group with non-benign disease (34. 1% vs 19. 9%, OR = 2. 09, 95% CI = 1. 05-4. 16) compared with controls.

aggressiveness


Input: In Parkinson disease, LRRK2 mutations have emerged as a major cause of both familial and sporadic forms, adding to the previously known genes SNCA, PRKN, DJ1 and PINK1.

sporadic


Input: Herein we report that the IL-6 is upregulated in balding DP cells compared with non-balding DP cells.

balding


Input: Reducing COL4A1, COL4A2, and EFNA1 by siRNA inhibited pulmonary endothelial adhesion, migration, and tube formation.

adhesion


Input: The observations made by clinicians close to XP, TTD and CS patients, suggested that transcription defects responsible for brittle hair and nails for TTD, or developmental abnormalities for CS, resulted from TFIIH mutations.

TFIIH

abnormalities


Input: Our previous study showed that kallistatin plays a role in neointima hyperplasia.

kallistatin

hyperplasia


Input: RNA-sequencing of a splenic hemangioma with the karyotype 45 ~ 47, XX, t (3; 6) (q26; p21) showed that this translocation generated a chimeric TBL1XR1-HMGA1 gene.

translocation


Input: Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.

caspase 1

albuminuria

caspase 1

albuminuria


Input: The ETO portion of the fusion protein includes the nervy homology region (NHR) 3 domain, which shares homology with A-kinase anchoring proteins and interacts with the regulatory subunit of type II cAMP-dependent protein kinase A (PKA (RIIα)).

ETO

nervy


Input: Among the COX-2-dependent prostaglandins (PG) induced upon celecoxib treatment, PGD₂ and 15-deoxy-Δ¹², ¹⁴-PGJ₂ were found to induce a cytosol-to-nucleus translocation of PPARγ as well as a PPARγ-dependent apoptosis.

PPARγ

translocation


Input: The present findings suggest that SJS/TEN is different from allergic diseases such as atopy and asthma because the ratio of each allele in the IL-13 SNP Arg110Gln was the opposite of the ratio in those diseases.

atopy


Input: Normogonadotropic anovulatory infertile patients have a different FSH receptor genotype than do normo-ovulatory controls.

FSH receptor

infertile


Input: The p. Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness.

MPZ

deafness


Input: T cell immunoglobulin-and mucin-domain-containing molecule 3 (TIM-3) has been established as a negative regulatory molecule and plays a critical role in inflammatory diseases such as rheumatoid arthritis, hepatitis B and C, and human immunodeficiency virus (HIV)-related inflammation.

inflammation


Input: No association was seen between lung cancer risk and polymorphisms in CYP1A1 Msp1 or CYP1B1 Leu (432) Val for Caucasians or African Americans, after adjusting for age at diagnosis, sex, pack years of smoking and family history of lung cancer.

smoking


Input: The clinical respiratory scores of RSV bronchiolitis cases with CA12 +/CA12 + and CA12 +/CA12-were 2. 84 ± 0. 40 (SD) and 2. 95 ± 0. 44 (SD), respectively, and these were significantly lower than the 3. 1 ± 0. 36 (SD) score for those with CA12-/CA12-.

bronchiolitis


Input: Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel.

GNAT2 gene

macular degeneration


Input: Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11. 2-p12. 2.

recurrent ear infections


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

inflammation


Input: Loss of heterozygosity of BRCA1, TP53 and TCRD markers analysed in sporadic endometrial cancer.

TCRD

sporadic


Input: There were significant differences in chemokines (MCP-1, MIP-1 alpha, and MIP-1 beta) levels of BAL fluid between patients with PF and healthy controls (p & lt; 0. 0006).

MIP-1 beta

PF

MIP-1 beta

PF


Input: Using validated conformational antibodies detecting carboxylated or undercarboxylated GRP (c/uc GRP), we have demonstrated cGRP accumulation in controls, whereas ucGRP was the predominant form in OA-affected tissues, colocalizing at sites of ectopic calcification.

GRP

ectopic calcification


Input: These results indicate: (a) a high incidence of the PiZ gene of AAT in systemic vasculitis irrespective of the type of autoantibodies; (b) a novel form of AAT deficiency associated with the normal PiM phenotype becoming manifest only during acute illness; (c) dysregulation of the acute-phase response affecting selectively AAT or both AAT and PCR; (d) correlation between low plasma levels of AAT and less severe renal involvement or risk of death.

AAT

acute-phase response


Input: In LNCaP cells, dihydrotestosterone induced CaMKK2 mRNA and protein expression and translocation of CaMKK2 to the nucleus.

translocation


Input: Up-regulation of SETDB1 was significantly associated with HCC disease progression, cancer aggressiveness, and poorer prognosis of HCC patients.

aggressiveness


Input: PAX5 and various miRNAs might exert regulatory effect on osteopenia via targeting ZFP36L2 and KLF13.

osteopenia


Input: The experimental uveitis was induced in Lewis rats by retinal S-antigen.

retinal S-antigen

uveitis

retinal S-antigen

uveitis


Input: Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.

tumour necrosis factor alpha

hyperalgesia

tumour necrosis factor alpha

hyperalgesia


Input: Inclusion of previously demonstrated interactions of smoking with LPL, interleukin-6 (IL6), and platelet/endothelial cell adhesion molecule (PECAM1) genotypes increased the A (ROC) to 0. 72 (0. 68-0. 76) for a DR (5) of 19. 1% (P = 0. 01 vs CRF combined with genotypes).

smoking


Input: In the presence of hypoxia, the E. coli PNP gene directed by the [HRE] AF promoter were HCC-specifically expressed in two human HCC cell lines and, moreover, the [HRE] AF-PNP/MeP-dR therapy would yield significant and selective cytotoxicity in both AFP-positive and low-AFP-generating HCC cells.

PNP

hypoxia


Input: Re-expression of ARHI was achieved by transfection, by treatment with trichostatin A (TSA) or by a combination of TSA and 5-aza-2'-deoxycytidine (DAC) in breast cancer cell cultures and by liposomal delivery of ARHI in breast tumor xenografts.

DAC

breast tumor


Input: Two mechanisms contribute to CCID formation: ALOX15 via the generation of 12 (S)-HETE by MCF-7 cells, which induces directional migration of LECs, and ICAM-1 in LECs under control of NF-κB, which facilitates adhesion of MCF-7 cells to LECs.

NF-κB

adhesion


Input: Overexpression of the SSAT enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human KFSD.

SSAT

KFSD

SSAT

KFSD


Input: We concluded that anxiety-like behavior occurred in 3xTg-AD mice with an involvement of miR-34a/GRM7.

anxiety

anxiety


Input: The growth factor pathway promotes protein synthesis, while the endoplasmic reticulum stress pathway, and other stress pathways activated by viruses and cytokines (IL1B, TNF, Interferons), oxidative stress or starvation, all factors associated with bipolar disorder risk, shuts down protein synthesis via control of the EIF2 alpha and beta translation initiation complex.

TNF

bipolar disorder

TNF

bipolar disorder


Input: The objective was to search for an association between spontaneous preterm birth (sPTB) and single and/or combined polymorphisms in genes TNFA-308 G > A, IL10-1082 G > A, IL10-819 C > T, IL10-592 C > A, IL6-174 G > C, and IFNG + 874 A > T.

IFNG

spontaneous preterm birth


Input: In a consecutive case series, cross-sectional study of 275 women referred for therapy of hyperlipidemia, (75 [27%] on estrogen replacement therapy [ERT]), our specific aim was to determine whether ERT-mediated thrombophilia and heterozygosity for the thrombophilic 20210 G/A prothrombin gene mutation interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).

ERT

cardiovascular disease


Input: In this study, we showed that ΔNp63 regulates a cohort of genes involved in cell growth, survival, adhesion, and inflammation, which substantially overlaps with the NF-κB transcriptome.

NF-κB

adhesion


Input: Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

multiple endocrine neoplasia type I

multiple endocrine neoplasia type I


Input: We tested associations between demographic, clinical, and genetic data and development of HCC, and developed a simple predictive model in a cohort of patients with chronic hepatitis C and advanced fibrosis.

HCC

fibrosis


Input: The number and specificity of anti-URGs correlated with the severity of liver disease Anti-URGs were predominantly present among patients with HBV-associated HCC (55. 2%) and cirrhosis (60. 7%), and at a lower frequency among patients with chronic hepatitis (35. 8%), and at still lower frequencies in most asymptomatic carriers (12. 3%) with normal ALT, among patients with chronic hepatitis C (38. 5%) and blood donors (0. 9%).

HCC

chronic hepatitis


Input: We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.

sporadic


Input: Upon inhalation of formalin-fixed Aspergillus fumigatus hyphal antigens, the overexpression of IDO from airway epithelial cells of these mice reduced the number of CD4 (+) T cells within the inflamed lung and impaired the capacity of antigen-specific splenic CD4 (+) effector T cells to secrete the cytokines IL-4, IL-5, IL-13, and IFN-γ.

IFN

inhalation


Input: We studied whether gain-of-function mutations in RANTES gene were associated with asthma and atopy-related traits in Chinese children.

RANTES

atopy


Input: Midkine acts as proangiogenic cytokine in hypoxia-induced angiogenesis.

Midkine

hypoxia


Input: In a variety of well-characterized behavioral tasks, including the elevated plus maze (anxiety-like behavior), forced swim test (depression-like behavior), hot plate (nociception) and two cognition models (passive avoidance and acquisition of conditioned avoidance responding), PDE1B knockout mice performed similarly to wild-type mice.

depression

depression


Input: For women, however, systolic and diastolic blood pressures were significantly related to MTP genotype, with the T allele of the polymorphism being associated with low blood pressure.

MTP

low blood pressure


Input: As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.

XMPMA

XMPMA


Input: Targeted genotyping revealed BRAF p. Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).

BRAF

craniopharyngiomas

BRAF

craniopharyngiomas


Input: The mPAP of the 4 week shunt + PPG group was (20. 3 +/-1. 7) mm Hg, significantly higher than that of the 4-week shunt group [(16. 2 +/-1. 5) mm Hg, P < 0. 01].

PPG

shunt


Input: Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene.

MLL2 gene

isomerism


Input: mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

breast tumors

breast tumors


Input: We identified three gene signatures: Chromogranin A (CgA), MAGE-D2 (adhesion), and MTA1 (metastasis) that define gastrointestinal (GI) carcinoids and hypothesize that their expression can delineate gastric neoplasia.

adhesion


Input: These findings suggest that in BRCA2 (LOH) NSCLCs the status of p53 (wild type or mutant) represents a decisive determinant of tumor growth and chromosomal instability.

chromosomal instability


Input: We now report a novel mutation in PRKAG2 causing Wolff-Parkinson-White syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy.

Wolff-Parkinson-White syndrome

Wolff-Parkinson-White syndrome


Input: Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.

hydroxymethylbilane synthase

acute intermittent porphyria

hydroxymethylbilane synthase

acute intermittent porphyria


Input: The crucial role of NEDD4-1 in neural development is well appreciated; however, its role in neurodegeneration remains unexplored.

neurodegeneration


Input: Therefore, we conclude that light drinking upregulates, whereas heavy drinking downregulates PON activity and its expression, irrespective of its genetic polymorphism.

PON

heavy drinking

PON

heavy drinking


Input: Linkage disequilibrium analyses using single SNPs and haplotypes showed no association to bipolar disease. Additional, more powerful, studies involving Cry1 and other circadian clock genes need to be tested before an association of circadian abnormalities with bipolar disorder can be excluded.

bipolar disorder

bipolar disorder


Input: Polymorphisms of LBP (rs1739654, rs2232596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study.

TNF-α

sporadic


Input: Here we show that type II transmembrane protein tenomodulin (TNMD) is upregulated in adipose tissue of insulin-resistant versus insulin-sensitive individuals, who were matched for body mass index (BMI).

TNMD

body mass index


Input: To study nonsyndromic progressive sensorineural hearing impairment in patients with a COL11A2 mutation (DFNA13) in a Dutch kindred.

progressive sensorineural hearing impairment


Input: At any point during the disease, parkinsonism was the most common movement syndrome reported in 79. 8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12. 2% and 10. 7%, respectively.

PSPS

parkinsonism


Input: In Ewing' s sarcoma family tumors (ESFTs), the proto-oncogene EWS that encodes an RNA-binding protein is fused by chromosomal translocation to the gene encoding one of the E-twenty six (ETS) family of transcription factors, most commonly friend leukemia virus integration 1 (FLI-1).

EWS

chromosomal translocation


Input: Significant genes in myeloma plasma cells from patients that were associated with early-onset bortezomib-induced peripheral neuropathy were the enzyme coding genes RHOBTB2 (upregulated by 1 & #183; 59 times; p = 4 & #183; 5 & #215; 10 (-5)), involved in drug-induced apoptosis, CPT1C (1 & #183; 44 times; p = 2 & #183; 9 & #215; 10 (-7)), involved in mitochondrial dysfunction, and SOX8 (1 & #183; 68 times; p = 4 & #183; 28 & #215; 10 (-13)), involved in development of peripheral nervous system.

peripheral neuropathy

peripheral neuropathy


Input: The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.

primary lymphedema

primary lymphedema


Input: The approach identified genes that cause retinal degeneration (CNGB1, SEMA4A, RRG4) or developmental changes (SOX2) when mutated.

retinal degeneration


Input: Thus regulation of TSP-1 might be critical for hyperglycaemic distal tubule hypertrophy.

hypertrophy


Input: These data suggest that HLA-DRB1 * 0101 and the CD4 status may determine susceptibility to nevirapine hypersensitivity, consistent with a CD4 T-cell-dependent immune response to nevirapine-specific antigens.

hypersensitivity


Input: Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

Fuchs corneal dystrophy

Fuchs corneal dystrophy


Input: Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged-red fibers; 2) infantile multisystemic disease typically with prominent nephropathy and encephalopathy; 3) cerebellar ataxia with marked cerebellar atrophy; and 4) pure myopathy.

MIM

recurrent myoglobinuria


Input: They summarized the evidence for modification by smoking and meat intake, sources of exposure to aromatic and heterocyclic amines, respectively, which are metabolized by NAT2.

smoking


Input: In tumor implanting nude mice model, QKI significantly impeded tumor initiation rates, tumor sizes and lung metastasis rates.

QKI

lung metastasis


Input: On the other hand, GRK5 was significantly elevated only in the left ventricle by 68% (P < 0. 05) in the dilated cardiomyopathy hearts and by 48% (P < 0. 01) in volume overload patients, while in contrast, GRK3 remained unchanged in dilated cardiomyopathy, but was slightly elevated by 36% (P = 0. 05) in the right ventricle of the volume overload patients.

volume overload


Input: These findings suggest that SAH can act as the potential molecular biological marker in the promotion of atherogenesis.

SAH

atherogenesis


Input: A semiquantitative assessment of the immunohistochemistry results revealed a significant correlation between seprase expression and lymph node metastasis.

seprase

lymph node metastasis


Input: The present results indicate that NRP-1 may be a potentially valuable biomarker and therapeutic target for gastric cancer.

NRP

gastric cancer


Input: Therefore, we have developed a novel system for evaluating mechanisms of anti-tumor immunity in vivo, incorporating the GL261-Quad model, 3D volumetric MRI, and picornavirus vaccination to enhance tumor-specific cytotoxic CD8 + T cell responses and track their effectiveness at eradicating established gliomas in vivo.

MRI

tumor immunity


Input: Thirty-eight soft tissue tumors including atypical fibroxanthoma (n = 5), benign fibrous histiocytoma (FH) (n = 17) and malignant fibrous histiocytoma (MFH) (n = 16) were examined using immunohistochemistry to determine MIB-1, DNA flow cytometry, and p53 (PAb 1801) immunostaining.

soft tissue tumors


Input: Status epilepticus in the immature brain significantly induced translocation of Omi/HtrA2 from mitochondria into the cytosol, increased cytosolic accumulation of Omi/HtrA2, induced appearance of XIAP-breakdown products and enhanced caspase-3 activity in the selectively vulnerable hippocampal CA1-subfield.

translocation


Input: We have identified a 5'-UTR splice acceptor mutation (IVS2-2A & gt; G) in exon 3 of the prestin gene, which is responsible for recessive non-syndromic deafness in two unrelated families.

prestin

deafness

prestin

deafness


Input: However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients.

sporadic


Input: A possible role for SCN8A was also proposed in studies examining the genetic basis of attempted suicide and bipolar disorder.

bipolar disorder

bipolar disorder


Input: The findings indicate that the POLG polymorphism may be a contributing factor in the pathogenesis of TGCT particularly in seminoma, but the mechanisms remain to be elucidated.

POLG

seminoma


Input: Additionally, we observed that the MMR-deficient non-neoplastic crypts harbored increased intraepithelial CD8-positive T-lymphocytes similar to the patient' s carcinoma, providing a potential new venue for the study of the natural antitumor immune responses in LS individuals.

MMR

non-neoplastic


Input: The functional cooperation between HIF-1α and GPER in CAFs was also evidenced in the hypoxia-induced cell migration, which involved a further target of the HIF-1α/GPER signaling like connective tissue growth factor (CTGF).

CTGF

hypoxia


Input: Lentiviral restoration of JunB at the leukemic stage led to loss of leukemic self-renewal capacity and prevented leukemia in NOD-SCID mice into which leukemic PU. 1-knockdown cells were transplanted.

JunB

leukemia


Input: We found that the frequency of GSTM1 null in the menorrhagia and case groups was not significantly different.

menorrhagia


Input: Injected in the portal vein in 5 healthy and 25 hepatocarcinoma-bearing rats and liver tumors in 9 hepatocarcinoma-bearing rats, Ad-CMV-rNIS drove expression of a functional NIS protein by hepatocytes and allowed marked (from 20 to 30% of the injected dose) and sustained (& gt; 11 days) iodine uptake.

NIS

hepatocarcinoma

NIS

hepatocarcinoma


Input: In a murine model of hindlimb ischemia, administration of TLR2 (-/-) cKit (+) BMC to WT mice augmented capillary density and reperfusion of ischemic M. gastrocnemius muscle tissue to the level of TLR2 (-/-) mice.

ischemia


Input: Genomic DNA samples from 518 Japanese sporadic prostate cancer patients, 433 controls and 154 Japanese men who were diagnosed as having latent prostate cancer based on autopsy results were genotyped for the TMPRSS2 Met160Val polymorphism using a TaqMan assay.

sporadic


Input: We previously showed that sirtuin1 (SIRT1), an antiaging protein, is reduced in lungs of CS-exposed mice and patients with COPD and that SIRT1 attenuates CS-induced lung inflammation and injury.

lung inflammation

lung inflammation


Input: Accordingly, immunohistochemical analysis showed that ADAMTS-5, but not ADAMTS-4, was highly expressed by carcinoma cells.

carcinoma


Input: By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.

AM

hyperalgesia

AM

hyperalgesia


Input: IL-13 and IL-4R may play an important role in the etiology of RCC.

RCC

RCC


Input: Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

spondylometaphyseal dysplasia with cone-rod dystrophy

spondylometaphyseal dysplasia with cone-rod dystrophy


Input: We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.

leukemias


Input: Desmoplastic small round cell tumor is a recently recognized distinctive tumor shown to be associated with a recurrent translocation, t (11; 22) (p13; q12), and rearrangement of the genes for Ewing sarcoma (EWS) and Wilms tumor (WT1).

EWS

translocation


Input: Expression of tissue PPARgamma, tissue levels of IL-1beta and IL-8, and plasma concentration of gastrin were significantly higher in H. pylori-positive GC compared to controls, but H. pylori eradication significantly reduced these parameters.

PPARgamma

GC

PPARgamma

GC


Input: Increased surface expression of CD18 and CD11b in leukocytes after tourniquet ischemia during elective hand surgery.

ischemia


Input: Corresponding analyses were performed restricted to the 2167 individuals with the ischemic large artery stroke (LAS) subtype.

LAS

stroke


Input: The EWS gene is fused in Ewing sarcoma-like tumors by a chromosomal translocation to one of the four ETS-family genes: FLI1, ERG, ETV1, and E1AF.

EWS gene

chromosomal translocation


Input: Increased eotaxin-mRNA expression in non-atopic and atopic nasal polyps: comparison to RANTES and MCP-3 expression.

RANTES

atopic


Input: We did not find concordance between numerical chromosome abnormalities of chromosome 17 and nuclear grading as well as with the immunoexpression of p53 and c-erbB2 studied in the smears.

chromosome abnormalities


Input: In this study, we performed mutational analysis of the coding region of the SHOX gene in five DCO and 18 HCH patients, all of whom tested negative for the known HCH-associated FGFR3 mutations.

SHOX

DCO

SHOX

DCO


Input: The patients with schizophrenia had lower levels of spinophilin mRNA in CA4 (hilus), CA3, the subiculum, and the entorhinal cortex than did the normal comparison subjects.

schizophrenia


Input: Metastasis rates were greater in the SDHB + group (78. 9 vs 48. 3%, P <. 001), as was the existence of metastases or multiple PGLs at presentation (38. 5 vs 16. 7%, P <. 05).

PGLs

metastases


Input: Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese.

aldehyde dehydrogenase 2

pharyngeal cancer


Input: In CNE-1 xenograft tumor models in huPBL-nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice, an intratumoral injection of Ad-p53/GM-CSF/B7-1 resulted in a reduced tumor burden, compared to normal saline (NS) and Ad-p53 controls.

severe combined immunodeficiency


Input: Loss of PTEN (phosphatase and tensin homologue deleted from chromosome 10) function has been implicated in the progression of several types of cancer.

tensin

cancer


Input: BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer' s disease.

sporadic


Input: In asthmatics, three IL13 SNPs-rs1881457 (-1512), rs1800925 (-1111) and rs20541 (R130Q)-were associated with atopy risk.

atopy


Input: Notably, tumors with evidence of WTX inactivation, Wilms tumor, hepatoblastoma and rhabdomyosarcoma, are primitive tumors that resemble undifferentiated precursor cells and are linked to overgrowth syndromes.

WTX

overgrowth


Input: Unexpectedly, we found that a single CTL epitope, NEP (375-383), could induce proteinuria and glomerular injury in HLA-A2. 1/K (b) transgenic mice in vivo.

NEP

proteinuria


Input: The present study demonstrated that antisense oligodeoxynucleotides directed against either exons 1, 2 or 3 of the ORL1/KOR-3 clone reduced orphanin FQ/nociceptin-induced hyperphagia.

orphanin FQ

hyperphagia


Input: Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN.

uromodulin

FJHN

uromodulin

FJHN


Input: Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.

UROD gene

mild


Input: Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.

ARC syndrome

ARC syndrome


Input: DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.

ESRD

ESRD


Input: The present study demonstrated that a founder mutation in most of the Japanese families with FAF, except for a sporadic patient in whom a de novo mutation event was suggested as the origin of the mutation.

FAF

sporadic


Input: Upregulation of stromal cell-derived factor 1 (SDF-1) expression in microvasculature endothelial cells in retinal ischemia-reperfusion injury.

stromal cell-derived factor 1

retinal ischemia


Input: We now show that a dinucleotide microsatellite allele in the 5'-flanking sequence of the ACT gene, designated A10, in association with APOE * 4 significantly increases the risk of developing sporadic AD, which accounts for the majority of AD cases.

ACT

sporadic


Input: In the total collection of pairs, heritability for ACR (h2 = 0. 27, P < 0. 001) was similar to that for blood pressure.

ACR

blood pressure


Input: Our findings indicate a strong association between ultrastructural abnormalities in the granular layer of epidermis and ichthyin mutations.

ichthyin

abnormalities


Input: The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4).

mild


Input: We report the identification of two heterozygous mutations of the gene for Kir 1. 1 (ROMK) from an antenatal Bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course.

ROMK

hyperkalemia


Input: We find that IGFBP3 facilitates transforming growth factor (TGF)-beta1-mediated epithelial-to-mesenchymal transition (EMT) in transformed human esophageal epithelial cells, EPC2-hTERT-EGFR-p53 (R175H).

esophageal


Input: Paternally-inherited Sgce heterozygous knockout (Sgce KO) mice exhibit myoclonus, motor impairment and anxiety-and depression-like behaviors, modeling several clinical symptoms observed in DYT11 M-D patients.

depression

depression


Input: Our findings provide evidence of ERK dysregulation, developmental abnormalities in neurogenesis, and behavioral impairment associated with the 16p11. 2 chromosomal deletion.

ERK

chromosomal deletion


Input: To this end, we examined Apoe (-/-) mice fed a hypercholesterolemic diet and analysed the expression of key enzymes of the cys-LT pathway and their receptors (CysLT1/CysLT2) in normal and hypoxic myocardium as well as the potential contribution of cys-LT signaling to the acute myocardial response to hypoxia.

hypoxic


Input: In this case, transient GAD-Ab positivity with susceptible haplotype for type 1 diabetes mellitus might have been induced by a GAD antigen discharged from the destroyed islet due to pancreatitis.

GAD

pancreatitis


Input: A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.

generalized epilepsy with febrile seizures plus type 2

generalized epilepsy with febrile seizures plus type 2