Input: We postulate that these developmental epigenetic mechanisms by which Smad3 regulates MMP9 transcription cell autonomously may be important in modulating both emphysema and pulmonary fibrosis and that this could explain why both pathologies can appear within the same lung specimen.

emphysema

emphysema


Input: To determine whether increased frequency of mutant alleles of the progesterone receptor gene (PGR) was associated with preterm birth in a population of Hispanic women.

PGR

preterm birth


Input: In conclusion, our data indicate that the hypersensitivity of TGCT cells is a result of their unique sensitivity to p53 activation.

hypersensitivity


Input: Finally, coexpression of FzE3 with Lef-1 transcription factor enhanced beta-catenin translocation to the nucleus.

translocation


Input: We review the literature on MECP2 mutations in Rett syndrome.

Rett syndrome

Rett syndrome


Input: Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Myosin storage myopathy

Myosin storage myopathy


Input: Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis.

OCS

OCS


Input: Using a HpaII/MspI digestion-polymerase chain reaction based assay, the presence of 5-methylcytosine in three CpG dinucleotides within the BRCA2 promoter was assessed in 18 breast or ovarian cancer cell lines, in an SV40 large T antigen immortalized cell line derived from normal breast epithelial cells, in 64 primary sporadic breast cancers and peripheral blood leucocytes from these cases and in a number of other normal human tissues.

sporadic


Input: Using mouse chromosome substitution strains and interval-specific congenic strains (ISCS), we previously identified an interval conferring pilocarpine-induced limbic seizure susceptibility on distal mouse chromosome 10 (Ch10).

ISCS

seizure


Input: The role of the integrins VLA-4 and LFA-1 and of the selectin adhesion molecules in autoimmune arthritis was investigated.

adhesion


Input: To investigate if the polymorphisms of metabolic traits and DNA repair modulate smoking-related DNA damage, we used sister chromatid exchange (SCE) as a marker of genetic damage to explore the relationship of microsomal epoxide hydrolase (mEH), glutathione S-transferase M1 (GSTM1), and X-ray cross-complementing group 1 (XRCC1) and cigarette smoking-induced SCE.

smoking


Input: While DNP manifests with albuminuria and diabetic glomerulopathy, its progression correlates best with tubular epithelial degeneration (TED) and interstitial fibrosis.

TED

albuminuria


Input: Allogeneic transplantation of hERG1-expressing cells into nude mice resulted in an increased incidence of tumors.

tumors

tumors


Input: Fluorescence in situ hybridization (FISH) analysis demonstrated that the nucleoporin gene (NUP98) at 11p15. 5 was disrupted by this translocation.

translocation


Input: The baseline blood vessel size, baseline blood flow and GNT induced dilation in both groups showed no significant differences among ACE genotypes (P > 0. 05).

ACE

dilation


Input: SGEF is overexpressed in prostate cancer and contributes to prostate cancer progression.

SGEF

prostate cancer


Input: In this study, we examined 19 cases of LEC from the United States for evidence of microsatellite instability at the DNA level and for alterations in the DNA mismatch repair (MMR) system at the immunohistochemical staining level.

LEC

microsatellite instability


Input: Host immune responses, especially CD4 (+) T-cell responses clearly play a role in mediating pathological manifestations of LF, including lymphedema, hydrocele and elephantiasis.

lymphedema


Input: Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.

Wilms tumor

Wilms tumor


Input: To determine whether MGBs exert beneficial effects during endotoxemia through attenuating tissue inflammation via interfering with HMGA1-DNA binding and modulating expression of adhesion molecules.

inflammation


Input: This study did not demonstrate a difference in the cumulative incidence of BM over time between the two cohorts (EGFR/ALK cohort competing risk regression [CRR] coefficient of 0. 78 [95% CI 0. 44-1. 39], p = 0. 41).

ALK

regression


Input: Our results showed that NRP-1 mRNA was expressed in six of seven leukemic cell lines and primary leukemias derived from all 24 patients with acute myeloid leukemia (AML).

NRP

acute myeloid leukemia


Input: To study whether the TNF alpha gene could be such a modifying gene, we studied TNF alpha promoter polymorphisms (G--> A substitution at positions-308 and-238) in relation to HLA-DQB1 genotypes in type 2 patients from mixed type 1/2 families or common type 2 diabetes families as well as in patients with adult-onset type 1 diabetes and control subjects.

alpha gene

type 1 diabetes


Input: Heterozygous Mutations in MAP3K7, Encoding TGF-& #946;-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Cardiospondylocarpofacial Syndrome

Cardiospondylocarpofacial Syndrome


Input: IKBKE emerged as a candidate for further studies of genetic factors associated with panic disorder and major depressive disorder.

IKBKE

major depressive disorder

IKBKE

major depressive disorder


Input: Twenty-six courses were delayed by a median of 7 days (range, 3-29 days), with interferon-alpha-2b administration frequently omitted because of thrombocytopenia, most often after Day 5.

thrombocytopenia

thrombocytopenia


Input: Here, we investigated the effects of intramuscular delivery of DNA coding for the pro-apoptotic protein BAX together with an intracellular or a secreted form of the beta cell antigen glutamic acid decarboxylase (GAD) on diabetes onset and immune responses in non-obese diabetic (NOD) mice.

BAX

obese


Input: We used log-linear modeling to analyze the association of PON1 and PON2 gene polymorphisms with the risk of preterm delivery.

preterm delivery


Input: Taken together, TFE3/Foxo1 and SREBP-1c reciprocally regulate IRS-2 expression and insulin sensitivity in the liver.

insulin sensitivity


Input: In this study, we performed double array analysis, consisting of both expression profiling and karyotyping analysis using single-nucleotide polymorphism (SNP) array, of the same HCC sample from a 68-year-old woman with chronic hepatitis type C, and attempted to find a novel tumor-suppressor gene as a prognostic marker for HCC.

HCC

chronic hepatitis


Input: The three of them had hypertophic cardiomyopathy while neurofibromas, Lisch nodules, and unidentified bright objects on MRI were absent.

MRI

neurofibromas


Input: Extrapyramidal signs (EPS) typically are a late-presenting feature of sporadic Alzheimer disease (AD), but relatively little data are available regarding EPS in FAD.

FAD

sporadic


Input: Bioinformatics analysis revealed that increased levels of HIF-2α, ABCB5, OCT4, SOX2 and ZEB1 in different melanoma populations under hypoxia could be a result of significant down-regulation of miR-340-5p.

hypoxia


Input: We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD.

X-ALD

X-ALD


Input: We also found a novel NKX2-1 variation (p. H60W) in a sporadic nonsyndromic CH patient.

sporadic


Input: The biologic and pathologic features of B-cell malignancies bearing a translocation t (14; 19) (q32; q13) leading to a fusion of IGH and BCL3 are still poorly described.

translocation


Input: Somatic LKB1 serine/threonine kinase alterations are rare in sporadic cancers, with the exception lung adenocarcinoma, but no mutations in squamous cell or large cell primary carcinoma were discovered.

serine/threonine kinase

primary carcinoma


Input: In contrast with approximately threefold upregulation of Dscam gene on days 5 and 7, immunoblotting and immunofluorescence analyses using specific antibodies showed a gradual decrease of DSCAM after ischemia until day 9 followed by recovery on day 15.

DSCAM

ischemia


Input: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Hunter syndrome

Hunter syndrome


Input: Knockdown of EphB2 expression in cSCC cells suppressed growth and vascularization of cSCC xenografts in vivo and inhibited proliferation, migration, and invasion of cSCC cells in culture.

vascularization


Input: SOX30 was expressed in normal and peri-tumoral lung tissues in which SOX30 was unmethylated, but was silenced or downregulated in lung cancer cell lines and primary lung tumor tissues harboring a hypermethylated SOX30.

lung tumor

lung tumor


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.

DBP

systolic blood pressure


Input: These results suggest a possible contribution of STH gene products on the heterogeneity of core frontal executive functions deterioration, probably through complex interactions with mechanism involved in neurodevelopment and neurodegeneration.

STH gene

neurodegeneration


Input: In this study, (-)-epigallocatechin-3-gallate (EGCG), the major constituent of green tea, is found to significantly inhibit the expression of IDO in human oral cancer cell lines.

IDO

oral cancer


Input: The corticotropin response to CRH was independent of sex and cocaine dependence.

CRH

cocaine dependence

CRH

cocaine dependence


Input: To assess the tumor necrosis factor (TNF)-α gene polymorphism relationship with seminal variables in fertile men (N) and those with asthenozoospermia (A), asthenoteratozoospermia (AT), and oligoasthenoteratozoospermia (OAT).

OAT

asthenoteratozoospermia


Input: Given the central role that mitochondria play during hypoxia, we hypothesized that Txnip deletion would enhance ischemia-reperfusion damage.

Txnip

ischemia


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

INDO

breast cancer

INDO

breast cancer


Input: RCCs from von Hippel-Lindau patients with known germline VHL mutations express significantly more E2F1 compared to sporadic RCCs with either clear-cell (cc) or non-cc histology.

sporadic


Input: Thus, ELN seems to contribute to blood pressure regulation by affecting arterial stiffness in Japanese.

ELN

arterial stiffness


Input: Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.

breast cancer

breast cancer


Input: To examine the nature of the association in Chinese individuals we analyzed DNA samples for these three PITX3 SNPs from 509 late-onset sporadic PD patients, and 494 healthy controls, using a ligase detection reaction (LDR).

sporadic


Input: In addition, cholestatic liver fibrosis induced by BDL, as determined by immunohistochemistry analysis of a1 collagen expression, was increased in SHP-/-mice but attenuated in hepatocyte SHP-overexpressed transgenic (STG) mice.

STG

liver fibrosis


Input: ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T.

ATM

A-T

ATM

A-T


Input: The amount of CaV3. 1 mRNA increased during hypertrophy and retrieved its nonhypertrophic level after losartan treatment, whereas the amount of CaV3. 2 mRNA was unaffected by stenosis.

CaV3. 2

stenosis


Input: The objective was to investigate the potential implication of the IL18 gene promoter polymorphisms in the susceptibility to giant-cell arteritis (GCA).

IL18 gene

giant


Input: Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.

transthyretin

lung tumor

transthyretin

lung tumor


Input: The aim of this study was to assess the mutational profile in each component of 16 adenosquamous carcinoma samples from a Caucasian population by a combination of next generation sequencing using the cancer hotspot panel as well as the colon and lung cancer panel and FISH.

FISH

adenosquamous carcinoma


Input: Using gene-based tests, suggestive associations were noted between EGR3 and BPI (p = 0. 017), and between NPAS2 and SZ/SZA (p = 0. 034).

SZA

SZA


Input: Absence of Krt17 also attenuates hyperplasia and inflammation in models of acute dermatitis.

hyperplasia


Input: NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

mitochondrial complex I deficiency

mitochondrial complex I deficiency


Input: Our observation that blockade of CLEC5A-mediated signalling attenuates the production of proinflammatory cytokines by macrophages infected with DV (either alone or complexed with an enhancing antibody) offers a promising strategy for alleviating tissue damage and increasing the survival of patients suffering from dengue haemorrhagic fever and dengue shock syndrome, and possibly even other virus-induced inflammatory diseases.

dengue haemorrhagic fever

dengue haemorrhagic fever


Input: Stratified analyses did not find any significant effect of age, ethnicity, smoking, well-done meat consumption, dietary intake of PhIP, or polymorphisms of CYP1A1, CYP1B1, NAT2, and GSTM1 genes on the level of PhIP-DNA adducts.

smoking


Input: This study investigated MIR22HG effects on gastric cancer.

gastric cancer

gastric cancer


Input: Levels of CXXC4 mRNA and hemoglobin and IPSS cytopenias were associated with the overall survival (P = 0. 025) but not with the leukemia-free survival of MDS patients.

leukemia


Input: This study investigated their relationships with disease subphenotypes, including renal nephritis, photosensitivity, antinuclear antibody (ANA), age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arthritis and vasculitis.

ANA

neurological disorder


Input: A BRCA2-classifier was built using array-CGH profiles of 28 BRCA2-mutated and 28 sporadic breast tumors.

sporadic


Input: Collectively, these data demonstrate that NEDD4 is overexpressed in colorectal cancers, and suggest that NEDD4 promotes growth of colon cancer cells independently of PTEN and PI3K/AKT signaling.

colon cancer


Input: Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Ataxia-Pancytopenia Syndrome

Ataxia-Pancytopenia Syndrome


Input: The frequency of B27 was determined in 83 permanently paced men with complete heart block, in whom presence of radiological or clinical signs of a B27-associated rheumatic disease had been excluded.

complete heart block


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

tumorigenesis


Input: The results suggest that liver cirrhosis increases mRNA expressions of AM, CRLR and RAMP1, RAMP2 and RAMP3 and that the increase in AM gene expression precedes the development of cirrhosis.

cirrhosis


Input: In a search for mutations of mu-crystallin (CRYM), a taxion specific crystalline which is also known as an NADP regulated thyroid hormone binding protein, two mutations were found at the C-terminus in patients with non-syndromic deafness.

CRYM

deafness


Input: In conclusion, in the inflamed synovium, as activated T cells migrate through the sublining and lining layer, T cell-derived IL-2 may activate FLS to secrete MCP-1, thus recruiting macrophages into the rheumatoid synovium and perpetuating inflammation.

inflammation


Input: Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

follicle-stimulating hormone receptor

Ovarian hyperstimulation syndrome

follicle-stimulating hormone receptor

Ovarian hyperstimulation syndrome


Input: The current results indicated that CRM1 is expressed in a subpopulation of ovarian carcinomas with aggressive behavior and is related to poor patient outcome.

aggressive behavior


Input: Furthermore, RPS19 significantly compromised CXCR2-dependent MIF-triggered adhesion of monocytes to endothelial cells under flow conditions.

MIF

adhesion


Input: Within the nucleus, Amot-p130 was associated with the transcriptional complex containing Yap and Teads (TEA domain family members) and contributed to the regulation of a subset of Yap target genes, many of which are associated with tumorigenesis.

tumorigenesis


Input: The human homologue of the rat NG2 chondroitin sulfate proteoglycan molecule, as detected by the monoclonal antibody (moab) 7. 1, was shown to be expressed on leukemic cells with MLL rearrangements of children with acute leukemia.

acute leukemia


Input: Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

Wiskott--Aldrich Syndrome protein

X-linked thrombocytopenia

Wiskott--Aldrich Syndrome protein

X-linked thrombocytopenia


Input: To determine whether PU. 1 is also involved in microglial regulation, we investigated its expression following hypoxic-ischemia (HI) brain injury and in the BV-2 microglial cell line.

PU. 1

hypoxic


Input: Absence of a germline mutation of the CYLD gene in cases harboring a somatic mutation may be explained by large deletions in the gene or by mutation in intronic sequences or in the promoter region.

CYLD gene

somatic mutation


Input: We found that diastolic blood pressure (DBP) but not systolic blood pressure reactivities to the mental arithmetic and bicycle exercise tasks were controlled by major gene effects.

DBP

systolic blood pressure


Input: We have addressed to what extent the tumorigenic-positive selection exerted by BRAF mutations seen in colorectal MMR-deficient tumors was also involved in the tumorigenesis of gastric cancer.

MMR

tumorigenesis


Input: In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.

macular dystrophy with central cone involvement

macular dystrophy with central cone involvement


Input: Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis.

granulocyte-colony stimulating factor

pulmonary fibrosis

granulocyte-colony stimulating factor

pulmonary fibrosis


Input: EBV-encoded latent membrane protein 1 (EBV-LMP1) is an important oncogenic protein for nasopharyngeal carcinoma (NPC) and has been shown to engage a plethora of signaling pathways.

plethora


Input: This review focuses on the role of PGC-1alpha in glucose metabolism and considers how PGC-1alpha links cellular glucose metabolism, insulin sensitivity and mitochondrial function, and why defects in PGC-1alpha expression and regulation may contribute to the pathophysiology of type 2 diabetes in humans.

insulin sensitivity


Input: Secretory phospholipase A2 group IIa (sPLA2-IIa) is involved in inflammation, tumorigenesis and metastasis.

inflammation


Input: We engineered two food-grade strains of lactic acid bacteria (LAB) to express and deliver Elafin to the site of inflammation in the colon to assess the potential therapeutic benefits of the Elafin-expressing LAB.

Elafin

inflammation


Input: Leucine-rich repeat-containing G protein-coupled receptor 5 (LGR5), a seven transmembrane receptor known as a potential stem cell marker for intestinal crypts and hair follicles, has recently been found to be overexpressed in some types of human cancers.

G protein-coupled receptor 5

cancers


Input: However, about 8 genes have been identified differentially which are expressed in lobular and ductal cancers: E-CD, survivin, cathepsin B, TPI1, SPRY1, SCYA14, TFAP2B, and thrombospondin 4, osteopontin, HLA-G, and CHC1.

cancers


Input: Although negative in schwannomas, neurofibromas, and malignant peripheral nerve sheath tumors, MUM1 is detected in only one in eight cases of spindle cell and desmoplastic melanomas.

schwannomas


Input: The translocation results in an EWS-Fli1 fusion gene, made up of the 5' half of the EWS gene on chromosome 22 fused to the 3' half of the Fli1 gene on chromosome 11.

EWS gene

translocation


Input: The PAX8-PPARG translocation has been reported to occur in the majority of FTC.

PPARG

translocation


Input: To the best of our knowledge, COL6A1 has never been described in gliomas.

gliomas


Input: CONCLUSIONS: This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.

neuropathy


Input: This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene.

CMTX

CMTX


Input: The cytokines that signal through the leukemia inhibitory factor (LIF) receptor are members of the neuropoietic cytokine family and have varied and numerous roles in the nervous system.

LIF

nervous system


Input: Yeast two-hybrid cloning identified metastasis-associated GPI-anchored C4. 4a protein and extracellular alpha-dystroglycan (DAG-1) as binding partners for both hAG-2 and hAG-3, which if replicated in clinical oncology would demonstrate a potential role in tumour metastasis through the regulation of receptor adhesion and functioning.

C4. 4a

adhesion


Input: PSZA11q14 is located on chromosome 11q14, an area shown previously to co-segregate with schizophrenia and related disorders in several families.

schizophrenia and related disorders

schizophrenia and related disorders


Input: These results indicate that rhIL10-RGD has anti-fibrosis effects and can potentially be used to treat the neovasculature in scar formation and improve the abnormal deposition of the extracellular matrix (ECM).

ECM

fibrosis


Input: Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).

tumor necrosis factor

Hyperalgesia

tumor necrosis factor

Hyperalgesia


Input: Based on multivariate Cox regression analysis, age 60 years and older, low platelet count (< 15 × 10 (9) cells/L), AFP level of 20 ng/mL or greater, advanced stage fibrosis, diabetes, lack of an SVR, and the IFNL3 rs12979860 CT and TT genotypes were significant risk factors for HCC (P <. 05).

HCC

fibrosis


Input: Further analyses of molecular and functional compensations in the CHT +/-model may provide insights into both risk and resiliency factors involved in cognitive and mood disorders.

CHT

mood disorders

CHT

mood disorders


Input: More than 90% of the tumor was composed of CLC areas that showed small monotonous and/or anastomosing glands, strongly positive for K7 and K19.

CLC

tumor


Input: The exon 7 [840 (CGT--> CAT), 855 (CGC--> CAC)] was showing micropenis and severe hypospadias.

CAT

hypospadias


Input: Our data indicate that PSD is not associated with the genetic risk factors of vascular dementia (VD) that were studied, and that additional factors may contribute to the pathogenesis of PSD.

PSD

vascular dementia


Input: An inverse relationship between MITF, vemurafenib resistance, and EGFR was then observed in patient samples of recurrent melanoma and was conserved across melanoma cell lines and patients' tumor specimens.

MITF

recurrent melanoma


Input: Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.

retinitis punctata albescens

retinitis punctata albescens


Input: In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations.

GSD Ia

GSD Ia


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

bipolar disorder

bipolar disorder


Input: Nevertheless, haploidentical bone marrow graft rejection does not occur in the severe phenotype, an indication for possible immunotherapy with LFA-1 specific monoclonal antibodies.

graft rejection


Input: We retrospectively examined 37 patients with locally advanced NSCLC treated with definitive thoracic radiotherapy (TRT).

TRT

thoracic


Input: PTEN (phosphatase/tensin homolog on chromosome 10)-induced putative kinase 1 (PINK1), a putative kinase that is mutated in autosomal recessive forms of PD, is also implicated in sporadic cases of the disease.

sporadic


Input: Further validation of candidate genes on a separate cohort of low and high grade prostate cancers by quantitative MethyLight analysis has allowed us to confirm DNA hypermethylation of HOXD3 and BMP7, two genes that may play a role in the development of high grade tumours.

prostate cancers

prostate cancers


Input: Lymphocyte function-associated antigens 1 and 3 (LFA-1, LFA-3) and intercellular adhesion molecule 1 (ICAM-1) are cell surface adhesion molecules necessary for immune processes requiring intercellular contact.

adhesion


Input: Tubastatin-A, a specific HDAC6 inhibitor, inhibited STIM1 translocation to plasma membrane and blocked SOCE activation in cancer cells but not normal epithelial cells.

translocation


Input: We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations.

sporadic


Input: Consistent with these findings, we found that human clinical samples of epithelial and glial cancers (frequently marked by loss of p53 function) possessed high level of CARF expression showing a relationship with cancer aggressiveness.

CARF

aggressiveness


Input: Combination treatment with Grb7 peptide and Doxorubicin or Trastuzumab (Herceptin) results in cooperative cell growth inhibition in breast cancer cells.

breast cancer

breast cancer


Input: The genes with their respective functional polymorphisms were the following: factor V (G1691A), prothrombin/factor II (G20210A), methylenetetrahydrofolate reductase (C677T), platelet glycoprotein receptor IIIa (P1A1/A2), b-fibrinogen (G/A-455) and plasminogen activator inhibitor-type 1 (4G/5G).

factor II

fibrinogen


Input: Our findings showed high frequencies of infertile men (73. 85%) and controls (78. 26%) having only three DAZ gene copies (DAZ1/DAZ2/DAZ3 or DAZ1/DAZ3/DAZ4 variants); so deletion of DAZ2 or DAZ4 were frequent both in infertile (36. 5% and 37. 3%, respectively) and fertile groups (33. 9% and 44. 3%, respectively) and removing DAZ4 copy was significantly more frequent in oligospermic than in normospermic men (p = 0. 04) in infertile group.

infertile


Input: We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.

carcinomas


Input: In this study we investigated the CYP17 polymorphisms in ovarian cancer patients harboring mutations in the BRCA1 and BRCA2 genes, patients displaying familial characteristics but not carrying mutations and patients with sporadic ovarian cancer.

BRCA2 genes

sporadic


Input: Arginase 1 is crucially involved in Ang II-induced SMC proliferation and arterial fibrosis and stiffness and represents a promising therapeutic target.

Arginase 1

fibrosis


Input: Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome.

acephalic spermatozoa syndrome

acephalic spermatozoa syndrome


Input: We have analyzed six unrelated incidences of epidermolytic palmoplantar keratoderma for mutations in their keratin 9 genes.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: The associations among BD consanguinity, familial hypercholesterolemia, and leptin receptor SNPs reported herein should be replicated and extended in other pedigrees.

leptin receptor

familial hypercholesterolemia


Input: Moreover, such phospho-Smad1/5-mediated rapamycin responses were blocked by LDN-193189 (a BMPRI kinase inhibitor) or Noggin (a BMP antagonist) in LNCaP prostate cancer cells.

prostate cancer


Input: Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Oligodontia

Oligodontia


Input: Thus, FATE/BJ-HCC-2 may be a valuable candidate CT antigen for polyvalent vaccines in tumor immunotherapy and an assisting diagnostic marker for prognosis of the disease.

tumor


Input: These findings identify a previously unknown oncogenic property of the spatially deregulated AURKA in tumorigenesis and provide a potential therapeutic opportunity to overcome kinase inhibitor resistance.

AURKA

tumorigenesis


Input: Since recent evidence indicates that microRNAs may be involved in EMT, the present study set out to reveal the miRNA which might regulate the EMT in CP (chronic pancreatitis) and PC (pancreatic cancer) and its potential mechanism.

EMT

chronic pancreatitis


Input: The combined presence of the NAT1/NAT2 high-risk genotype and the XPD Lys/Lys or Lys/Gln genotypes ignoring smoking had an odds ratio that was only slightly higher than expected, assuming no genotype-genotype interaction (P = 0. 52).

smoking


Input: A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer' s disease.

amyloid precursor protein

Alzheimer' s disease

amyloid precursor protein

Alzheimer' s disease


Input: Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Multiple self-healing squamous epithelioma

Multiple self-healing squamous epithelioma


Input: Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Periaxin

Dejerine-Sottas neuropathy

Periaxin

Dejerine-Sottas neuropathy


Input: Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.

thrombosis

thrombosis


Input: The chance of a live birth after a diagnosis of secondary recurrent miscarriage (SRM) is reduced in patients who, prior to the miscarriages, gave birth to a boy and carry HLA class II alleles that efficiently present male-specific (H-Y) antigens to the immune system.

SRM

recurrent miscarriage


Input: Taken together, miR-145 plays an important role in tumorigenesis of PCa through interfering SENP1.

tumorigenesis


Input: We conducted a case-control study of colorectal adenoma (914 cases, 1185 controls) and CRC (496 cases, 607 controls) among Japanese Americans, European Americans and Native Hawaiians to investigate the association of genetic variation in the PAH and HAA bioactivation pathway (CYP1A1, CYP1A2, CYP1B1, AHR and ARNT) identified through sequencing with risk of colorectal neoplasia, as well as their interactions with smoking and intakes of red meat and HAAs.

smoking


Input: Epidermolytic palmoplantar keratoderma of V & #246; rner: re-evaluation of V & #246; rner' s original family and identification of a novel keratin 9 mutation.

keratin 9

Epidermolytic palmoplantar keratoderma

keratin 9

Epidermolytic palmoplantar keratoderma


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

ischemia


Input: A low dose [5 x 10 (8) plaque-forming units (pfu)] of an adenovirus expressing apoE4 did not normalize plasma cholesterol levels of apolipoprotein E-deficient (apoE (-/-)) x low density lipoprotein receptor-deficient (LDLr (-/-)) mice and induced hypertriglyceridemia.]

low density lipoprotein receptor

adenovirus


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

RYK

adhesion


Input: Therefore, TNF-related inflammatory cytokine genes may play a role in neural activity associated with frustrative non-reward and aggressive behaviors in pediatric bipolar disorder.

TNF

bipolar disorder

TNF

bipolar disorder


Input: Results show that KIT mutations are more common in vulvar melanomas than other types of mucosal melanomas and that both the RAF/MEK/ERK and PI3K/AKT pathways are activated in mucosal melanoma specimens.

ERK

mucosal melanoma


Input: Increasing EphB4 expression by transient transfection inhibited cell substrate adhesion, and this effect was also independent of ephrin stimulation because it was not affected by single amino acid mutations in EphB4 that impair ephrin binding.

adhesion


Input: We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.

OI type II

OI type II


Input: These results suggest that (1) fetal oliguria secondary to indomethacin is mediated through the stimulation of the renal arginine vasopressin V2-receptor and (2) prostaglandin synthesis inhibition may play a role in renal tubular sodium handling.

arginine vasopressin

oliguria


Input: Association between myeloid malignancies and acquired deficit in protein 4. 1R: a retrospective analysis of six patients.

4. 1R

malignancies


Input: Karyotypic complexities associated with frequent loss or rearrangement of a number of chromosome arms, deletions, and mutations affecting the TP53 region, and molecular alterations of the INK4A gene have been reported in sporadic and/or neurofibromatosis type I (NF1)-related malignant peripheral nerve sheath tumors (MPNSTs).

sporadic


Input: Here, we report a second case of congenital ataxia linked to the ΔF1502 α1A mutation, detected by whole-exome sequencing, and analyze its functional consequences on CaV2. 1 human channels heterologously expressed in mammalian tsA-201 HEK cells, using the physiological permeant ion Ca2 +.

ataxia


Input: IRX2 was also expressed in human fetal kidney-the presumed tissue of origin for CCSK.

CCSK

CCSK


Input: Low-grade astrocytomas, but not glioblastomas, also showed elevated SOX8 transcript levels.

astrocytomas


Input: This study aimed to determine the role of two potential candidate genes on chromosome 17 in CDH: HOXB9 (involved in limb embryonic development) and COL1A1 (involved in joint laxity).

joint laxity


Input: Mutations in other genes, such as IRS4, GULP1, NHSL1, and C10orf53, accounted for one alteration in each meningioma nodule.

nodule


Input: This study has shown that HLA-DR15 expression is associated with a reduced dermal Th-1 response to GAS cell wall proteins in patients with psoriasis.

GAS

psoriasis


Input: Moreover, neuroblastomas with chromosomal deletion of 1p36 exhibit loss of KIF1Bβ expression and impaired DHX9 nuclear localization, implicating the loss of DHX9 nuclear activity in neuroblastoma pathogenesis.

chromosomal deletion


Input: Our findings suggest that ECM changes in airway remodelling via MMP-1 could contribute to an environment promoting greater airway narrowing in response to broncho-constrictor stimuli and worsening asthma symptoms.

ECM

airway remodelling


Input: The results were substantially the same when a preterm spontaneous labour group (PTL) (n = 26), exclusive of deliveries complicated by pre-eclampsia (n = 1) or intrauterine growth restriction (n = 3), was compared to the CST and SLT groups.

PTL

intrauterine growth restriction


Input: In conclusion, BMP2/pSMAD1 signaling participates in the PFOA-induced developmental cardiotoxicity in chicken embryo, which is likely located upstream of PPAR alpha for this particular endpoint.

cardiotoxicity

cardiotoxicity


Input: Results indicate that the TNF gene polymorphisms studied play no part in determination of disease severity or ASP susceptibility; however, they are both strongly related to the development of septic shock in ASP.

ASP

septic shock


Input: NNT-1/BSF-3 induces tyrosine phosphorylation of glycoprotein 130 (gp130), leukemia inhibitory factor receptor beta, and signal transducer and activator of transcription 3 in the SK-N-MC human neuroblastoma cells.

neuroblastoma


Input: The associations between one of suggested candidate, apolipoprotein E (apo E) genotype to bone mineral density (BMD) and bone biochemical markers was studied in 464 subjects recruited from a population-based group of early postmenopausal women (n = 13100).

apolipoprotein E

bone mineral density


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

basophilia


Input: This preliminary result suggests that the promoter GT repeat dinucleotide microsatellite polymorphism of the IFNAR1 gene may represent a risk factor for the development of depressive symptoms during IFN-alpha therapy for hepatitis C and other conditions.

depressive symptoms

depressive symptoms


Input: This study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes.

MLASA

MLASA


Input: More recently, the very sensitive detection methods, interphase fluorescence in situ hybridization (FISH) and Southern blot on RT-PCR amplicons, demonstrated that the oligoclonal occurrence of RET rearrangement in benign thyroid lesions is not a rare event and suggested that it could be associated with a faster enlargement in benign nodules.

FISH

enlargement


Input: IL-6 showed inverse correlations with liver function, intensity of alcoholism, nutritional status, left arm muscle mass and short-term mortality.

alcoholism

alcoholism


Input: The frequency of OPCML hypermethylation in endometrioid carcinoma, serous cystadenocarcinoma, mucinous cystadenocarcinoma, clear cell carcinoma, and undifferentiated carcinoma were 80. 0%, 85. 5%, 50. 0%, 80. 0%, and 100%, respectively (p > 0. 05).

OPCML

undifferentiated carcinoma


Input: BTG1 expression was statistically lower in gastric cancer than non-neoplastic mucosa and metastatic cancer in lymph node (p < 0. 05).

non-neoplastic


Input: A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome


Input: We studied the mechanisms of innate immunity to oncolytic adenovirus Ad5/3-Delta24 in conventional treatment resistant non-CIC breast cancer cells, breast cancer CD44 (+)/CD24 (-/low) CIC population and normal breast tissue CD44 (+)/CD24 (-/low) stem cells.

adenovirus


Input: The primary granule proteins elastase (ELA2) and proteinase 3 (PR3) both contain the nonapeptide PR1, which can induce cytotoxic T lymphocyte (CTL) responses against chronic myeloid leukemia (CML) cells.

chronic myeloid leukemia


Input: We studied 75 astrocytic tumors with different degrees of anaplasia including juvenile pilocytic astrocytoma (JPA), low-grade astrocytoma (LGA), anaplastic astrocytoma (AA), and glioblastoma multiforme (GBM) to determine whether standard CD44 (CD44s) can be used as a clinically useful marker distinguishing between low-and high-grade gliomas.

LGA

anaplasia


Input: In this sample of healthy families, plasma levels of IL-6 and TNF-alpha were differently affected by biological parameters including age, gender and smoking, and the impact of their respective polymorphisms was influenced by gender, age and BMI.

smoking


Input: We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations.

Teebi hypertelorism syndrome

Teebi hypertelorism syndrome


Input: Cyclin E2 induces genomic instability by mechanisms distinct from cyclin E1.

cyclin E1

genomic instability


Input: Together, our data unravel a previously unknown function of the RANK-RANKL molecule system in AML pathophysiology as well as NK cell function and suggest that neutralization of RANKL with therapeutic Abs may serve to reinforce NK cell reactivity in leukemia patients.

RANKL

leukemia


Input: Our results show that both USP9Y and Fam, the mouse infertility protein Usp9x, possess a protease activity specific to ubiquitin.

infertility


Input: Transcriptomic screens in breast cancer cell lines have identified a protein named anterior gradient-2 (AGR2) as a potentially novel oncogene overexpressed in estrogen receptor (ER) positive tumours.

breast cancer

breast cancer


Input: By using real-time quantitative PCR, we found that this was not the case: amplification of porphobilinogen deaminase (PBGD), a low copy household gene, was not different in blood samples in which a melanoma marker was not detected from groups in which this marker was detected more or less consistently (1-4 times).

PBGD

melanoma


Input: Our data expand the clinical spectrum of CASK mutations to include OS with cerebellar hypoplasia and congenital anomalies at the most severe end.

CASK

OS

CASK

OS


Input: Karyotyping of the patient and of both parents was normal, and high-resolution cytogenetic analyses of chromosome 1, to which cathepsin K is mapped, revealed no abnormalities.

cathepsin K

abnormalities


Input: The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6.

sporadic


Input: Results suggest that deficiency in MMR could promote tumorigenesis by inhibiting apoptotic responses to ROS-mediated DNA damages as ROS are continuously produced as a byproduct of normal metabolism.

MMR

tumorigenesis


Input: The mRNA and protein expression of SOCS1 and SOCS3 in plaque and vessels were determined at different time points.

plaque


Input: The contemporary action of CCL20 on osteoblasts and osteoclasts involved in the maintenance of bone tissue homeostasis demonstrates the important role of this compartment in the evolution of RA, by showing a clear uncoupling between new bone formation and bone resorption.

bone resorption


Input: Our findings indicate that LTA can induce the secretion of the polymorphonuclear leukocyte chemotactic factor IL-8 and that LTA may be an important cellular mediator of inflammatory cell recruitment that characterizes immune responses to gram-positive bacterial infections.

LTA

bacterial infections


Input: Sef downregulation by Ras causes MEK1/2 to become aberrantly nuclear localized leading to polyploidy and neoplastic transformation.

neoplastic transformation


Input: HBx induced deacetylation of the oxygen-dependent degradation domain of HIF-1 alpha, which was accompanied with dissociation of prolyl hydroxylases and von Hippel-Lindau tumor suppressor from HIF-1 alpha.

von Hippel-Lindau tumor suppressor

dissociation


Input: An Iranian family with Alzheimer' s disease caused by a novel APP mutation (Thr714Ala).

APP

Alzheimer' s disease

APP

Alzheimer' s disease


Input: It is concluded that FLI-1 expression in solid pseudopapillary neoplasms is not associated with an EWS/FLI-1 translocation.

EWS

translocation


Input: Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

ARID1B gene

hyperinsulinism


Input: Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

Macular corneal dystrophy

Macular corneal dystrophy


Input: In the combined population, odds ratios were increased for TNF-308A carriers (NHL: OR (allelic) = 1. 13, P (trend) = 0. 0001; DLBCL: OR (allelic) = 1. 25, P (trend) = 3. 7 x 10 (-6); marginal zone lymphoma: OR (allelic) = 1. 35, P (trend) = 0. 004) and LTA 252G carriers (DLBCL: OR (allelic) = 1. 12, P (trend) = 0. 006; mycosis fungoides: OR (allelic) = 1. 44, P (trend) = 0. 015).

LTA

marginal zone lymphoma


Input: Recently, we showed that hypoxic induction of the extracellular matrix modifying enzyme lysyl oxidase (LOX) correlates with metastatic dissemination to the bone in estrogen receptor negative breast cancer and is essential for the formation of premetastatic osteolytic lesions.

LOX

hypoxic


Input: The expression of mRNAs for epidermal growth factor (EGF), transforming growth factor alpha (TGF alpha), EGFR, platelet-derived growth factor (PDGF) A and B chain, PDGF receptor (PDGFR), transforming growth factor beta (TGF beta), erbB-2 and estrogen receptor (ER) genes was first examined in 6 human esophageal carcinoma cell lines, 6 xenoplanted and 15 surgically resected esophageal carcinomas.

EGF

esophageal


Input: Thus, MED1 promoter methylation and gene silencing occur in sporadic CRC patients and represent an early event in CRC tumorigenesis.

tumorigenesis


Input: At 38 weeks, RFC1 (+/-) mice developed local inflammatory lesions with or without epithelial dysplasia as well as adenocarcinomas, which were larger relative to RFC1 (+/+) mice.

epithelial dysplasia


Input: FISH + status for each gene was significantly associated with smoking history, squamous cell carcinoma (SCC) histology, and increased copy number of the other studied genes.

FISH

squamous cell carcinoma


Input: The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations.

mild


Input: The relation between MCV and ADH1C gene polymorphisms (ADH1C * 1 and 1C * 2) controlled for the amount of drinking, smoking, and age were investigated using both univariate and multivariate analysis.

smoking


Input: Autoimmune thyroid diseases are characterized by intrathyroidal infiltration of CD4 (+) and CD8 (+) T lymphocytes reactive to self-thyroid antigens.

thyroid diseases


Input: Antibody-mediated blockade of either B7-H1 or the related molecule PD-1 revealed that their ability to limit inflammation relied on ligand interactions made by B7-H1 or PD-1.

inflammation


Input: Longitudinal associations of 20 fatty acids and three desaturase activities (Δ5 (20: 4n-6/20: 3n-6, D5D), Δ6 (18: 3n-6/18: 2n-6, D6D), stearoyl-CoA desaturase-1 (16: 1n-7/16: 0, SCD-1)) with type 2 diabetes incidence, and estimates of insulin sensitivity (Matsuda), secretion (ratio of insulin and glucose concentrations) and β-cell function (disposition index) by an oral glucose tolerance test were analyzed using Cox regression and linear mixed models.

stearoyl-CoA desaturase

regression


Input: Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype.

tumorigenesis


Input: We propose that: (i) IL-4-and IL-13-stimulated SCCA gene expression is mediated via STAT-1 and STAT-6 activation, and (ii) by suppressing the production, and most likely by interfering with the signaling of these cytokines, UG inhibits SCCA gene expression associated with airway inflammation in asthma.

inflammation


Input: Our study shows that-26 5' UTR polymorphism in BRCA2 can modulate the fine-tuned regulation of the multifunctional gene BRCA2 and renders risk or protection according to the genotype status in the sporadic form of breast cancer, which is further influenced by the germline genetic backgrounds of codon 72 polymorphism of p53.

sporadic


Input: Increased expression of SRp20 but not SRp30c mRNA was observed in bipolar disorder patients in both the depressive and remissive states.

bipolar disorder

bipolar disorder


Input: SiRNA knockdown of EZH2 increased miR-31 expression and decreased the antiapoptotic protein E2F6 (E2F transcription factor 6) (a target of miR-31), resulting in the sensitization of prostate cancer cells to docetaxel-induced apoptosis.

E2F transcription factor 6

prostate cancer


Input: These data indicate that IRF-1 is a hallmark of the gliadin-mediated inflammation in CD and suggest that IFN-gamma/IRF-1 signaling pathway can play a key role in maintaining and expanding the local Th1 inflammatory response in this disease.

inflammation


Input: A t (2; 19) (p13; p13. 2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.

giant


Input: DNA of 37 aldosterone-producing secondary nodules was extracted from formalin-fixed paraffin-embedded tissues and genotyped for KCNJ5, ATP1A1, ATP2B3, and CACNA1D mutations.

secondary


Input: Both noggin treatment and adenovirus BMP4-short hairpin RNA transduction improved endothelium-dependent relaxations in aortae and flow-mediated dilatation in mesenteric arteries of db/db mice.

dilatation


Input: In this study we characterize a new BLM mutation in a BS patient leading to the replacement, in the C-terminal region of Blm, of a highly conserved cysteine by a phenylalanine in codon 1036.

BLM

BS

BLM

BS


Input: Single nucleotide polymorphisms (SNPs) of EPHX2 alter sEH activity and are associated with increased [rs41507953 (K55R)] or reduced [rs751141 (R287Q)] cardiovascular risk via modulation of fibrosis, inflammation or cardiac ion channels.

inflammation


Input: It is suggested that SAA plays not only an important role in the development of AA amyloidosis but also interacts with events closely involved in metabolic syndrome as a high-and low-grade inflammatory modulator, respectively.

SAA

AA amyloidosis

SAA

AA amyloidosis


Input: Mutations in the PRKAG2 gene that regulates the gamma 2 subunit of the AMP-dependent protein kinase A have been associated with the development of AV accessory pathways, cardiac hypertrophy, and conduction system abnormalities.

PRKAG2 gene

cardiac hypertrophy


Input: Array comparative genomic hybridization of dissected tumor cells from both components revealed many shared chromosomal aberrations but also unique alterations of the HER2 + tumor cell population besides HER2 amplification.

chromosomal aberrations


Input: We also observed borderline significant associations between prostate aggressiveness at diagnosis and SNPs in AKR1C1 (rs11252845; P = 0. 005), UGT2B15 (rs2045100; P = 0. 007), and HSD17B12 (rs7932905; P = 0. 008).

aggressiveness


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

asymptomatic


Input: Involvement of the HLXB9 homeobox gene in Currarino syndrome.

Currarino syndrome

Currarino syndrome


Input: To investigate early alterations on bone mineral density (BMD) and RANK, RANKL and OPG mRNA expression in peripheral blood leukocytes (PBL) in children and adolescents with type 1 diabetes (T1D) and the relationship with glycemic control and bone biomarkers.

RANKL

bone mineral density


Input: Furthermore, overexpression of Sp1 in highly invasive lung adenocarcinoma cells increased expression of E-cadherin, a suppressor of metastasis, and attenuated the translocation of β-catenin into the cellular nucleus that leads to tumor malignancy.

translocation


Input: These results show that the deficiency of ACTN3 is a secondary effect in these dystrophies.

secondary


Input: In order to maximize the anti-cancer activities of conditionally replicating adenoviral vectors (CRAd) vector, we for the first time generated a novel CRAd vector by inserting an expression cassette between E4 and the fiber using homologous recombination and tested this vector in melanoma cancer therapy.

CRAd

cancer


Input: The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.

MRI

enlargement


Input: The reduced synthesis of the profibrotic factor CTGF may contribute to a potential protective effect of hypoxic preconditioning in acute renal injury.

CTGF

hypoxic


Input: Together, these results demonstrate that increased ChREBP can dissociate hepatic steatosis from insulin resistance, with beneficial effects on both glucose and lipid metabolism.

ChREBP

insulin resistance


Input: Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins.

CDGS

epilepsy


Input: Treatment with bLF decreased levels of tumor necrosis factor-α, IL-4, IL-6, and IL-10 cytokines, resulting in limited inflammation, which then restricted growth of the lung cancer.

inflammation


Input: In this study, we investigated the involvement of epithelial cell-derived neutrophil-activating protein 78 (ENA-78) in development of H. pylori-associated gastritis.

gastritis


Input: Growth factors, particularly insulin-like growth factor I (IGF-I) and IGF-I receptor (IGF-IR) in some nonendocrine and a few endocrine tumors, are thought important in recurrence, growth, and aggressiveness.

IGF-I

aggressiveness


Input: To evaluate the importance of ID1 in malignant melanoma, tumour cell expression was examined by immunohistochemistry in 119 cases of nodular melanoma using tissue microarray technique, and related to multiple tumour markers including proliferation, p16 expression, angiogenesis and patient survival.

nodular melanoma


Input: Intriguingly, the cellular level of NEIL1 protein strongly depends on the intact FA pathway suggesting that the hypersensitivity of FA cells to ICLs may, at least in part, arise from downregulation or degradation of NEIL1.

hypersensitivity


Input: Following confirmation of the natural history of this leukemia in the transgenic mice, we demonstrated that the transformed murine lymphocytes express relevant therapeutic targets (Bcl-2, Mcl-1, AKT, PDK1, and DNMT1), wild-type p53 status, and in vitro sensitivity to therapeutic agents relevant to the treatment of human CLL.

leukemia


Input: Carriage of the natural killer (NK) receptor genotype KIR3DL1 * h/* y with its HLA-B * 57 ligand (* h/* y + B * 57) is associated with slow time to AIDS and low viral load (VL).

viral load


Input: In vitro, APOBEC3B expression was predominantly induced by treatment with a DNA-damaging drug in bladder cancer cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines.

bladder cancer

bladder cancer


Input: Local cerebral metabolic rates for glucose were compared between patients with familial Alzheimer' s disease (FAD), sporadic Alzheimer' s Disease (SAD), and normal controls (NC) to determine if FAD is associated with a unique pattern of brain metabolism.

FAD

sporadic


Input: Unexpectedly, the cyclin-dependent kinase inhibitor p21WAF1/CIP1 protein was undetectable in CF cells under hyperoxia, contrasting with increased levels of p21WAF1/CIP1 in normal cells.

cyclin-dependent kinase inhibitor

hyperoxia


Input: The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1. 14, 95% CI: 1. 04-1. 25, P = 0. 0047; BRCA2: HR = 1. 18 95% CI: 1. 04-1. 33, P = 0. 0079).

fit


Input: These data suggest that mutations of BRCA2 are rare in sporadic ovarian cancers, and that the proportion of ovarian cancers resulting from hereditary predisposition may be higher than previously suspected based on estimates derived from studies of highly penetrant genetic loci.

sporadic


Input: We observed an interaction between smoking and N-acetyltransferase 2 slow acetylation (OR, 1. 3; 95% confidence interval, 1. 0-1. 6) that was somewhat stronger when analyses were restricted to studies conducted in Europe (OR, 1. 5; confidence interval, 1. 1-1. 9), a pooling that included nearly 80% of the collected data.

N-acetyltransferase 2

smoking


Input: The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.


Input: The aim of this study was to investigate the roles of TRX and TBP-2 in the pathophysiology of endometriosis.

TBP

endometriosis


Input: The frequency of heterozygous protein C and protein S deficiency, detected by measuring total plasma antigen, in a group (n = 141) of young unrelated patients (less than 45 years old) with venous thrombotic disease was studied and compared to that of antithrombin III, fibrinogen, and plasminogen deficiencies.

antithrombin III

fibrinogen


Input: The T2DM and IFG groups currently have higher levels of fasting triglycerides, greater body mass index (BMI) and higher systolic blood pressure than normoglycemics and this difference was already apparent in midlife.

IFG

body mass index


Input: Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8. 5 yr, small pituitary gland (4 mm) at age 10 yr and pituitary enlargement (11 mm) at age 19 yr.

MRI

enlargement


Input: We demonstrated that the CArG-enhanced survivin promoter markedly improved the proliferative activity of the oncolytic adenovirus in HCC cells, thereby augmenting hSulf-1 expression and inducing cancer cell apoptosis.

HCC

adenovirus


Input: Adhesion assay revealed that the adhesion of THP-1 to HTSMCs challenged with ET-1 was increased, which was attenuated by the inhibitors of ET receptors, Src, MMPs, EGFR, PDGFR, PI3K, AKT, p42/p44 MAPK, and p300.

AKT

adhesion


Input: The present study suggests that in humans and in rats, septic shock is associated with decreased ACTH synthesis that is not compensated by its two natural secretagogues, AVP and CRH.

ACTH

septic shock


Input: Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.

growth hormone receptor

Laron dwarfism

growth hormone receptor

Laron dwarfism


Input: Chromosome 11q23 translocations in acute myeloid and lymphoid leukemia cells demonstrate myeloid lymphoid leukemia (MLL) fusions with over 40 gene partners, like AF9 and AF4 on chromosomes 9 and 4, respectively.

lymphoid leukemia


Input: IL-8 and ENA-78 protein expression was most pronounced in pancreatic carcinoma specimens, showing an 11-fold and 17-fold overexpression in comparison with non-affected neighbouring tissues, a 66-fold and 24-fold upregulation compared to pancreatic cystadenoma, and a 6-fold and 9-fold overexpression with respect to chronic pancreatitis, respectively (p < 0. 05 between all groups).

pancreatic cystadenoma


Input: Identification of ATRAP as a novel receptor binding modulator of adipose tissue inflammation not only has cardiovascular significance but may have generalized implication in the regulation of tissue function.

ATRAP

inflammation


Input: Following BRAF inhibition, RHOB activates AKT whose inhibition causes hypersensitivity of BRAF-mutant melanoma cells to BRAF inhibitors.

RHOB

hypersensitivity


Input: Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders.

mood disorders

mood disorders


Input: In this study, we have explored changes in the expression of telomere-associated genes POT1, TIN2, RAP1 and TPP1, in patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM).

myeloma


Input: Inhibition of the AKT pathway inhibits cell proliferation and promotes apoptosis of leiomyoma cells.

AKT

leiomyoma


Input: In mouse hindlimb ischemia model (N = 30/group), autoamputation (limb loss) occurred in 87% and 68% of the mice with saline and Ad encoding β-galactosidase (Ad-LacZ), respectively, whereas only 23% of the mice injected with Ad-F-UCP showed autoamputation after 21 days of treatment.

UCP

ischemia


Input: CD200Fc treatment suppressed macrophage and microglial accumulation within the CNS, in part through downregulation of adhesion molecules VLA-4 and LFA-1, which are necessary for macrophage migration.

adhesion


Input: Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP).

FMRP

Fragile X syndrome

FMRP

Fragile X syndrome


Input: Comparable values of EBV prevalence were detected in LAS with follicular hyperplasia (12/16, 75%) and with follicular involution (4/4, 100%).

LAS

follicular hyperplasia


Input: All patients with C4AQ0 exhibited more than 5 ACR criteria including malar rash, oral ulcers, renal disorder, immunological disorder, anti-nuclear antibody, without hematological disorder.

ACR

malar rash


Input: A novel charged trinuclear platinum complex effective against cisplatin-resistant tumours: hypersensitivity of p53-mutant human tumour xenografts.

hypersensitivity


Input: Besides analyzing different environmental factors, such as nitrosamines and zinc deficiency, cyclin D1 transgenic mice were crossbred with p53-deficient mice.

cyclin D1

zinc deficiency


Input: In this report we show that the dendritic cell-specific chemokine, dendritic cell-derived CC chemokine 1 (DC-CK1), which is produced in humans and acts on naive lymphocytes, can enhance Ag-specific CD8 (+) T cell responses when coadministered with either irradiated Plasmodium yoelii sporozoites or a recombinant adenovirus expressing the P. yoelii circumsporozoite protein in mice.

adenovirus


Input: Here we show that in rat hippocampal CA1 neurons, forebrain ischemia induces the phosphorylation of the N-methyl-D-aspartate (NMDA) receptor 2A subunit at Ser1232 (phospho-Ser1232).

ischemia


Input: Thirty-nine hyperplastic polyps from 26 CUC patients, 39 sporadic hyperplastic polyps from 29 age-and sex-matched patients without CUC, and 26 colonic mucosal biopsies from 22 patients with CUC but without hyperplastic polyps were analyzed by polymerase chain reaction for loss of heterozygosity of APC, 3p, p53, and p16 and for mutations in codons 12, 13, and 61 of the K-ras gene.

sporadic


Input: To investigate the roles of inherited polymorphisms in the MBL2 gene and exposure to viral infection in the development of a range of adverse pregnancy outcomes, including birthweight < 10th percentile (small-for-gestational age, SGA), antepartum hemorrhage (APH), pregnancy-induced hypertensive disorders (PIHD), and preterm birth (PTB).

APH

birthweight


Input: ARHI represents a modulator of cancer cell proliferation and may play an important role in the development of pancreatic cancer.

ARHI

pancreatic cancer


Input: Patients with CC/CT genotypes showed an elevated peak viremia level and significantly lower CD4 (+) T-cell count at multiple time points during the first year of primary infection, and a significantly higher risk of rapid decline of the CD4 (+) T-cell count to below 350 cells/μl.

viremia


Input: We evaluated the effect of genotype misclassification on odds ratio estimates and sample size requirements for a study of NAT2 acetylation status, smoking, and bladder cancer risk.

smoking


Input: We investigated possible protective effects of erythropoietin against doxorubicin-induced cardiomyopathy.

erythropoietin

cardiomyopathy

erythropoietin

cardiomyopathy


Input: Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.

ovarian cancer

ovarian cancer


Input: The proband from the second family has HH and inherited a premature stop codon in RTEL1 from his father and a missense mutation from his mother, who also has short telomeres.

HH

HH


Input: The long pentraxin PTX3 as a correlate of cancer-related inflammation and prognosis of malignancy in gliomas.

gliomas


Input: Moreover, GTN down-regulated translocation of the p50/p65 heterodimer to the nucleus, prevented binding of NF-κB to its DNA response element and reduced TNF-α-activated interleukin-8 (IL-8) expression.

TNF-α

translocation


Input: Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1.

cognitive disorder


Input: We have identified the role of oxidation resistance 1 (Oxr1) as a vital protein that controls the sensitivity of neuronal cells to oxidative stress; mice lacking Oxr1 display cerebellar neurodegeneration, and neurons are less susceptible to exogenous stress when the gene is over-expressed.

neurodegeneration


Input: The levels antiapoptotic molecules, Bcl-2 and Bcl-XL decreased, whereas the proapoptotic molecules, Bax and caspase 6, increased in lupus T cells.

Bcl-XL

lupus


Input: High expression of calcium-binding proteins, S100A10, S100A11 and CALM2 in anaplastic large cell lymphoma.

large cell lymphoma


Input: MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG).

MRI

periventricular nodular heterotopia


Input: Correlating with this, high psoriasin expression in human IBC is associated with increased angiogenesis and worse clinical outcome, and psoriasin mRNA levels are coordinately regulated with VEGF and other genes related to hypoxia and mitochondrial reactive oxygen species (ROS).

psoriasin

hypoxia


Input: Fifty-eight samples from 29 HCC patients (obtained in both neoplastic and peritumoral tissues), 22 from chronic hepatitis (CH) and 10 controls (cholecystectomy patients-CON) were examined.

HCC

chronic hepatitis


Input: We investigated the mRNA expression of OLIG1 and OLIG2, as well as four other genes involved in oligodendrocyte development (E2A, HEB, NKX2. 2, and PDGFRA) in a panel of 70 gliomas, including 9 oligodendrogliomas, 11 anaplastic oligodendrogliomas, 5 oligoastrocytomas, 10 anaplastic oligoastrocytomas, 10 diffuse astrocytomas, 10 anaplastic astrocytomas, and 15 glioblastomas.

HEB

astrocytomas


Input: LFIRE-1 is highly homologous to HFREP-1 with discrepancy at 5' untranslated region (UTR) and encodes the same fibrinogen-related protein, which suggest that these two sequences might be alternative splicing forms of the same gene, LFIRE-1/HFREP-1, located at human chromosome 8p22.

fibrinogen


Input: We show that several MYCN-amplified cell lines harbor additional chromosomal aberrations targeting p53 and/or pRB pathway components, including CDK4/CCND1/MDM2 amplifications, p16INK4A/p14ARF deletions or TP53 mutations.

chromosomal aberrations


Input: Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.

NF2 gene

sporadic


Input: PDZK1 interacts with N-methyl-d-aspartate receptors and neuroligins, which have been implicated in the etiologies of schizophrenia and ASD.

schizophrenia

schizophrenia


Input: In vivo imaging studies with tumor xenografts derived from MDA-MD-231 cells engineered to express tdTomato red fluorescence protein under regulation of hypoxia response elements identified co-localization between hypoxic fluorescent regions and increased concentration of (125) I-radiolabeled CD44 antibody.

hypoxic


Input: Our results suggest that IL-2 induces inflammation at tumor sites with three predominant secondary effects: activation of antigen-presenting monocytes; massive production of chemoattractants that may recruit other immune cells to the tumor (including MIG and PARC, which are specific for T cells); and activation of cytolytic mechanisms in monocytes (calgranulin, grancalcin) and NK cells (NKG5, NK4).

inflammation


Input: The results favor a role for beta-endorphin (1-31) and dynorphin (1-13) in the hypotension centrally mediated by alpha-methyldopa.

beta-endorphin

hypotension

beta-endorphin

hypotension


Input: In our previous linkage study on 148 Chinese hypertensive families, the regions at or near the LPL gene were found to be associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP).

LPL gene

diastolic blood pressure


Input: Results suggest that short TSLP prevents airway inflammation in a chemical-induced asthma model, which might be associated with the inhibitions of HMGB1-RAGE and long TSLP expression and STAT5 (Y694) phosphorylation.

TSLP

inflammation

TSLP

inflammation


Input: Samples were harvested 20 hours post-CLP (i. e., severe sepsis).

CLP

severe sepsis


Input: Twelve of 19 patients with common variable immunodeficiency (63%, P less than 0. 001) and 9 of 16 patients with IgA deficiency (56%, P less than 0. 01) had rare C2 alleles and/or C4A and 21-hydroxylase A deletions, whereas these gene features were seen in only 5 of 34 healthy individuals (15%) in the control group.

common variable immunodeficiency


Input: ENTPD6 is a promising molecular biomarker of cisplatin resistance in testicular cancer, and also a novel therapeutical target modulating cisplatin resistance in testicular cancer.

testicular cancer


Input: Conclusively, truncating mutations within the P0 intracellular domain do not necessarily cause a severe phenotype such as Dejerine-Sottas syndrome (DSS) or congenital hypomyelinating neuropathy (CHN), but can result in mild or moderate CMT1B with intrafamilial clinical variability.

CHN

congenital hypomyelinating neuropathy


Input: Th1 and Th2 cytokine profiles in sickle cell disease.

sickle cell disease


Input: Our results identify PIASy as a transcriptional corepressor of AR and suggest that different PIAS proteins have distinct effects on AR signaling in prostate cancer cells.

PIASy

prostate cancer


Input: In this study, we aimed to determine the CpG methylation pattern of the UCHL1 promoter, as well as the mutation spectrum and the expression pattern of P53 in sporadic colorectal cancer (CRC) from Tunisian patients.

sporadic


Input: The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member.

laterality


Input: Mucopolysaccharidosis type II (Hunter syndrome): mutation " hot spots " in the iduronate-2-sulfatase gene.

Hunter syndrome

Hunter syndrome


Input: Transient transfection of rat HSP70 promoter/chloramphenicol acetyltransferase constructs into H9c2 cells shows that the presence of either of the two HSEs is sufficient for heat-shock inducibility.

shock


Input: The levels of body mass index (BMI), insulin (INS), total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), red blood cell (RBC), Hemoglobin (HB) and hematocrit (HCT) in campers were significantly declined by the combined intervention (p < 0. 05).

INS

body mass index


Input: We identified a novel missense mutation, c. 424G > C (p. Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections.

recurrent respiratory infections


Input: PTH1R was observed on osteoblasts in bone around the tumor but no expression was observed on ameloblastoma cells in tumor parenchyma by immunohistochemistry.

ameloblastoma


Input: Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B (12) receptor, cubilin.

cubilin

cubilin


Input: Restoration of RFC pathway function by genetic or pharmacological Cdc42 inhibition enabled harnessing of pro-oxidant effects of low µM tamoxifen (TMX) concentrations-concentrations utilized in trials on multiple tumour types-to suppress division and induce death of BLBC cells in vitro and to confer TMX sensitivity in vivo through oestrogen receptor-α-independent mechanisms.

TMX

tumour


Input: In addition, after 4 weeks of EPA treatment, as compared with TAC/CRPtg, TAC/CRPtg/EPA mice demonstrated reduced heart and lung weights, increased left ventricular fractional shortening, and decreased left ventricular end-diastolic pressure, together with decreased cardiac hypertrophy, fibrosis, and improved cardiac function.

EPA

diastolic pressure


Input: Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction.

JBTS

JBTS


Input: Alternatives to hydroxyurea are imatinib for the treatment of CML and interferon alpha-2a or anagrelide for essential thrombocytosis.

interferon alpha-2a

essential thrombocytosis

interferon alpha-2a

essential thrombocytosis


Input: In conclusion, INSR mutations associated with RMS were identified.

INSR

RMS

INSR

RMS


Input: Both positive rate and mRNA level of APRIL were significantly higher in colorectal carcinoma tissues than in para-tumor tissues (76. 8% vs. 16. 1%, 0. 16 +/-0. 05 vs. 0. 71 +/-0. 08, both P & lt; 0. 001).

APRIL

colorectal carcinoma

APRIL

colorectal carcinoma


Input: In addition, we found that lymphoproliferative manifestations resolved with age, whereas immunological disorders [ie, hypergammaglobulinemia and detection of TcR alphabeta (+) CD4 (-) CD8 (-) lymphocytes] persisted.

hypergammaglobulinemia


Input: Changes in orexin (hypocretin) neuronal expression with normal aging in the human hypothalamus.

hypocretin

aging


Input: No significant changes in complexin 1, VGAT, complexin 2, VGluT1, dysbindin, NAV2, or VAMP1 mRNA expression were found; however, expression of mRNAs associated with plasticity/cytoskeletal modification (GAP43 and NAV1) was reduced in schizophrenia.

schizophrenia

schizophrenia


Input: The specific expression and subcellular distribution of S100A11 were examined in 78 paraffin-embedded lung cancers, 2 benign lung diseases as well as 22 healthy lung tissues by immunohistochemistry.

lung diseases


Input: In total, 30 CFTR mutations account for 93. 9% of the 412 Northern Irish CF chromosomes tested.

CFTR

CF

CFTR

CF


Input: In conclusion, IL-15 seems to be able to reduce/suppress protein loss and apoptosis related to muscle wasting during cancer cachexia in experimental animals.

muscle wasting


Input: The BDNF polymorphism was associated with atrophy of the PFC in MDD patients, which suggests that the BDNF Val66Met polymorphism may play an important role in the pathogenesis of early stages of MDD.

PFC

atrophy


Input: The study was undertaken to identify the association of RANTES promoter polymorphisms with atopy and asthma using family-based association tests (FBATs) and generation-specific case-control analyses.

RANTES

atopy


Input: Cells from 74 probands (group B) produced and secreted normal and abnormal type I procollagen molecules; these patients were usually short and had bone deformity and dentinogenesis imperfecta, and many had grey or blue-grey sclerae.

type I procollagen

bone deformity


Input: A reason for these discrepancies may be the fact that most studies used the nontumorous tissue surrounding the HCC lesion as a control, which is almost invariably affected by cirrhosis or chronic hepatitis, as well as other pathological conditions such as hepatitis B virus (HBV) or hepatitis C virus (HCV) infection.

HCC

chronic hepatitis


Input: Although microconversion events are the main cause of mutations in the CYP21 gene, random mutations with a common origin can also be the cause of 21-hydroxylase deficiency.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: POC from patients attending a recurrent miscarriage clinic and from terminations of pregnancy for non-medical reasons were examined histologically with particular regard to the presence or absence of vascular or intervillous thromboses and decidual endovascular trophoblast invasion.

POC

thromboses


Input: Recombinant adenovirus encoding FAT10 small interfering RNA inhibits HCC growth in vitro and in vivo.

HCC

adenovirus


Input: RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

RPGR

impaired hearing

RPGR

impaired hearing


Input: It activates phosphorylation of Shc, and p44/42 MAPK (mitogen activated protein kinase) in the ERK (extracellular regulated kinase) signaling pathway; PI3K (phosophatidyl inositol-3-kinase), AKT/protein kinase B, and p70S6kinase in the phosophatidyl inositol-3-kinase pathway; and focal adhesion kinase in the adhesion/motility pathway.

protein kinase B

adhesion


Input: Here we have investigated the effect of hypoxia on CD44 and two of its isoforms in MDA-MB-231 and SUM-149 triple negative human breast cancer cells and MDA-MB-231 tumors using imaging and molecular characterization.

hypoxia


Input: The mean telomere length (MTL) in HCC was significantly shorter compared with chronic hepatitis (P < 0. 0001).

HCC

chronic hepatitis


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.

smoking


Input: Tumors with higher expression (upper 15%) of GLI1 or GLI3 mRNA were associated with poor survival in stage II-IV (5-year overall survival rates: GLI1 mRNA low, 41. 7% vs. high, 20. 0%, P = 0. 0074; GLI3 mRNA low, 43. 1% vs. high, 13. 3%, P = 0. 0062) and stage III-IV (5-year overall survival rates: GLI1 mRNA low, 34. 0% vs. high, 0%, P = 0. 0012; GLI3 mRNA low, 33. 4% vs. high, 7. 7%, P = 0. 057) lung adenocarcinoma patients.

lung adenocarcinoma


Input: Circulating miRNAs are emerging biomarkers in heart failure, type 2 diabetes and other disease states; however, using plasma miRNAs as biomarkers for the diagnosis of APE is still unknown.

APE

heart failure


Input: Finally, we showed that detailed electroretinography is an effective way to discriminate among patients with mutations in either TRPM1 or GRM6, another autosomal-recessive cCSNB disease gene.

CSNB

CSNB


Input: Also, the combinations of different GSTM1, GSTT1, and GSTP1 genotypes were not an increased risk of presbycusis (p > 0. 05).

presbycusis


Input: We examined specimens--1 of pinguecula, 13 of pterygia (7 primary, 1 recurrent, 1 with dysplasia, and 4 primary not tested for p53), and 10 of limbal tumors (2 with actinic keratosis dysplasia, 1 with conjunctival intraepithelial neoplasia, 3 with carcinoma in situ, and 4 with squamous cell carcinoma)-expressing p53.

conjunctival intraepithelial neoplasia


Input: Finally, we propose a hypothetical sequence of the pathogenic steps linking sporadic AD, FAD, Abeta production, mitochondrial dysfunction with caspase pathway, and neuronal loss.

FAD

sporadic


Input: Immunohistochemistry for IMP3, CK8/18, and CK14 was performed on 39 cases of invasive breast carcinomas with BRCA mutation (24 BRCA1, 14 BRCA2, and 1 dual BRCA1/BRCA2) and 54 cases of sporadic invasive breast carcinomas.

sporadic


Input: Moreover, it appears that preferential premolar agenesis is associated with TGFA, and patients with a family history of tooth agenesis would have an associated haplotype.

TGFA

tooth agenesis


Input: Using direct sequencing and a quantitative multiplex PCR of short fluorescent fragments (QMPSF)-based assay allowing accurate detection of both total and partial NSD1 deletions, we identified NSD1 abnormalities in 104 patients corresponding to 102 Sotos families (90%).

abnormalities


Input: Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.

Bladder Cancer

Bladder Cancer


Input: We evaluated a role for the nuclear factor-kappa B (NF-kappaB) pathway in the regulation of seizure susceptibility and transcriptional activation during prolonged, continuous seizures (status epilepticus).

NF-kappaB

status epilepticus


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

sporadic


Input: Several TREX1 mutants linked to the autoimmune diseases Aicardi-Gouti & #232; res syndrome and systemic lupus erythematosus that exhibit full catalytic function were tested for altered ubiquitin modification and cellular localization.

systemic lupus erythematosus

systemic lupus erythematosus


Input: We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis.

aminoaciduria


Input: Calnexin and PDI mRNAs were not significantly altered following TBI with or without secondary hypoxia.

PDI

hypoxia


Input: Furthermore, independent of blood pressure, periostin was strongly correlated with plasma creatinine, proteinuria and renal blood flow, hallmarks of hypertensive renal disease severity.

periostin

blood pressure


Input: Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.

FASD

FASD


Input: This is the first patient reported with uniparental disomy (UPD) resulting in ZS, in this case maternal isodisomy of chromosome 1 involving reduction to homoallelism of a frameshift mutation within PEX 10.

PEX

uniparental disomy


Input: A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

T gene

familial hypertrophic cardiomyopathy


Input: Therefore, these findings not only reveal a novel pathophysiological function of TWEAK/Fn14 but also uncover a new player that may contribute to the development of cellular insulin resistance in hepatocytes.

TWEAK

insulin resistance


Input: Seven of ten cases of sporadic colon carcinoma, analyzed for comparative purposes, exhibited loss of a p53 allele.

sporadic


Input: Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors.

cyclin E

weight


Input: Here, we examine KCNE2 in 98 patients with drug-induced LQTS, identifying three individuals with sporadic mutations and a patient with sulfamethoxazole-associated LQTS who carried a single-nucleotide polymorphism (SNP) found in approximately 1. 6% of the general population.

sporadic


Input: Furthermore, silencing of homeobox B9 is more common in older age and is linked to extrathyroidal extension and advanced pathologic stage of papillary thyroid carcinoma.

homeobox B9

papillary thyroid carcinoma


Input: Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome.

intestinal disorder


Input: Patients were categorised as Ankylosing Spondylitis (AS), Undifferentiated Spondyloarthropathy, SSA with inflammatory bowel disease, reactive arthritis, psoriatic arthritis and juvenile spondyloarthropathy.

SSA

juvenile spondyloarthropathy


Input: Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.

specific granule deficiency

specific granule deficiency


Input: The mRNA level of Pin1 was obviously higher in blood samples from NSCLC patients than in those from benign lung disease patients and healthy subjects: it in NSCLC group was 1. 69-34. 78 times of that in negative control group.

lung disease


Input: We performed this study to evaluate the role of MCP-1 for the pathogenesis of PH in experimental CDH.

PH

PH


Input: Recent studies revealed that a common variant in the coding region of the IL13 gene, Arg110Gln, has been implicated in the development of asthma and atopy.

IL13 gene

atopy


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

chemodectoma


Input: In the current study, the au-thors found that with malignancy of cervical cancer, the protein expression of TFAM was gradually increased, while the expression of miRNA-214 was gradually downregulated.

TFAM

cervical cancer


Input: Triple-negative patients were also younger than their JAK2-mutated counterparts (P = 0. 003) and displayed lower hemoglobin (P = 0. 003), lower leukocyte count (< 0. 0001) and lower thrombotic events (P = 0. 02).

hemoglobin


Input: In this study, we collected 47 cases of nasal lymphoma and investigated the phenotypic difference between NK/T-cell lymphoma and PTL by examining the pattern of the developmentally differentially expressed molecules cdk6 (cyclin-dependent kinase 6), CD44, CD117, and by examining the rearrangement of the T-cell receptor gene (TcR-GR).

PTL

lymphoma


Input: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal failure.

MIM

hypercalciuria


Input: In an effort to investigate further the molecular epidemiology of AIP, we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients.

PBGD

AIP

PBGD

AIP


Input: The same CHRM2 markers were genotyped in a sample of 137 EA subjects with affective disorders.

affective disorders

affective disorders


Input: The medians of all measured factors and inflammatory parameters were not different from normative data, but many cases displayed values of C-reactive protein (CRP) (40%), fibrinogen (15%), fibrin D-dimer (15%), factor VIII (25%), von Willebrand factor (vWF) (15%), cholesterol and liver parameters that were greater than normative limits.

factor VIII

fibrinogen


Input: Multiplicative interaction analysis indicated that BLK had an interactive effect with TNFSF4 in Chinese patients with SLE (P = 6. 57 & #215; 10 (-4)).

SLE

SLE


Input: BACKGROUND/AIMS: The aim of the study is to search for associations between Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) and polymorphisms in the genes of four key molecules possibly involved in different pathogenic pathways; complement C3, CTLA-4, Fcγ-RIIa and IL1-Ra.

complement C3

vasculitis


Input: The STRAD gene, encoding an LKB1 interacting protein that activates LKB1, which subsequently leads to polarisation of cells, is an interesting candidate for a second PJS gene and a potential tumour suppressor gene in sporadic carcinomas.

STRAD

carcinomas


Input: Axl/Gas6/NFκB signalling in schwannoma pathological proliferation, adhesion and survival.

NFκB

adhesion


Input: Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase.


Input: Colitis was associated with a decrease in silent mating type information regulation-1 (SIRT1) gene expression and an increase in p-inhibitory kappaB expression and nuclear transcription factor-kappaB (NF-kappaB) activation.

Colitis

Colitis


Input: Thus, NMDAR2A is commonly hypermethylated in primary human CRC and possesses tumor-suppressive activity.

CRC

CRC


Input: The data show that Cx43 and Cx26 are differentially regulated during bladder outlet obstruction and contribute to the response of the bladder wall to increased voiding pressure, possibly to control its elasticity.

bladder outlet obstruction


Input: Moreover, both liver-specific SIK2 knockdown and p300 overexpression resulted in hepatic steatosis, insulin resistance, and inflammation, phenotypes reversed by SIK2/p300 co-overexpression.

inflammation


Input: To investigate the possible involvement of TRIM37 alterations in the pathogenesis of sporadic fibrothecomas, we analyzed the TRIM37 cDNA for mutations and alternatively spliced transcripts and TRIM37 expression in fibrothecomas of women without Mulibrey nanism.

sporadic


Input: These have mainly centered on possible deficiencies in monoamines, neurotrophins, the neuroendocrine system, c-AMP, cation channels as well as neuroimmune interactions and epigenetics, however the precise mechanism or mechanisms related to depression have yet to be elucidated.

AMP

depression

AMP

depression


Input: We found associations with recurrent wheeze for SNPs in IL19, IL20, MUC5AC, TNFRSF1B, C3, CTLA4, CXCL9, IL4R, and IL7 genes.

wheeze


Input: The percentage of patients with altered protein expression of HOXA-10 in stromal cells were significantly higher in patients with only superficial peritoneal endometriosis (100%, 20/20, P < 0. 05) compared with the other infertile groups (deep infiltrating endometriosis: 72. 7%, 16/22; ovarian endometriosis: 70. 0%, 14/20; uterine myoma: 68. 8%, 11/16; unexplained infertility: 55. 6%, 5/9).

HOXA

uterine myoma


Input: This gene family includes the previously studied PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved symbols EMP1, EMP2 and EMP3, respectively).

neuropathy


Input: We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.

FGFR4 gene

basal cell carcinoma


Input: To elucidate whether Ca (2 +) entry via Trpm2 is required to maintain cellular bioenergetics, we injected adenovirus expressing green fluorescent protein (GFP), wild-type (WT) Trpm2, and loss-of-function (E960D) Trpm2 mutant into left ventricles of global Trpm2 knockout (gKO) or WT hearts.

adenovirus


Input: Analysis of the BRCA1 and BRCA2 genes in sporadic meningiomas.

BRCA2 genes

sporadic


Input: Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma.

mechanistic target of rapamycin

hypoxia


Input: We found reduced TLR4 gene expression in the nasal epithelium of smokers compared with non-smoking controls, while TLR2 expression was unchanged.

TLR4 gene

smoking


Input: Apelin mRNA is significantly higher expressed in adipose tissue of patients with type 2 diabetes and correlates with circulating apelin, BMI, body fat, C-reactive protein, and insulin sensitivity.

C-reactive protein

insulin sensitivity


Input: In contrast to our hypothesis, IL-4-independent pathways exacerbate methacholine-induced AHR and promote airway obstruction during the pathogenesis of mycoplasma respiratory disease.

AHR

mycoplasma


Input: Translocation (X; 10) (p10; p10): A rare but nonrandom chromosomal abnormality in acute leukemia of myeloid differentiation.

acute leukemia


Input: SOD2 genotype alone was not associated with disease aggressiveness, whereas higher versus lower selenium levels were associated with a slightly increased likelihood of presenting with aggressive disease (RR = 1. 35; 95% CI, 0. 99 to 1. 84).

aggressiveness


Input: In myelin protein zero-deficient mice (P0-/-), we found alterations similar to those found in Pmp22-/-mice, whereas P0 +/-mice developed mildly increased sciatic nerve F-wave latencies only late in life, which indicates only mild dysmyelination.

mild


Input: We examined the association of LTL with coronary artery calcification (CAC), which reflects the cumulative burden of coronary atherosclerosis, in an urban Arab sample of Palestinians, a population at high risk of CHD.

CAC

coronary artery calcification


Input: Therefore, the possible association of the hOGG1 Ser326Cys gene variant with insulin sensitivity was investigated in 279 normal glucose-tolerant subjects without history of cancer.

insulin sensitivity


Input: We hypothesize that CRE, Mef2, and GR signaling form a transcription regulating network, which underlies differential amphetamine sensitivity, and therefore, may play an important role in susceptibility to psychosis.

psychosis

psychosis


Input: The immunohistochemical findings for VEGF protein, p53 protein, and MIB-1 did not differ significantly between the sporadic and VHL disease-associated hemangioblastomas.

sporadic


Input: Importantly, 16 of 18 unique CHEK2 mutations identified in both sporadic and familial cases were not detected among 423 unaffected men, suggesting a pathological effect of CHEK2 mutations in prostate cancer development.

sporadic


Input: Notably, this HTRA2 transgene rescues htra2 (mnd2) mice from early onset neurodegeneration, and other phenotypic abnormalities and prevents their early death, indicating that HTRA2 activity in neuronal mitochondria is important for neuronal cell survival.

neurodegeneration


Input: To investigate the possibility of a human genetic component conferring resistance or susceptibility to cold sores (i. e., a HSL susceptibility gene), we conducted a genetic linkage analysis that included serotyping and phenotyping 421 individuals from 39 families enrolled in the Utah Genetic Reference Project.

HSL

cold sores


Input: This study analysed the TGFBI gene in Vietnamese people with LCD.

TGFBI

LCD

TGFBI

LCD


Input: The tumor suppressor gene, p53, was studied because of previous indications that this gene is inactivated in the sporadic (nonfamilial) forms of most cancers that are associated with LFS.

gene, p53

sporadic


Input: Pfeiffer' s syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

fibroblast growth factor receptor-2

Pfeiffer' s syndrome

fibroblast growth factor receptor-2

Pfeiffer' s syndrome


Input: Here we show that siRNA-mediated silencing of p53 is sufficient to completely abrogate hypersensitivity not only to Cisplatin but also to non-genotoxic inducers of p53 such as the Mdm2 antagonist Nutlin-3 and the proteasome inhibitor Bortezomib.

hypersensitivity


Input: Animals subcutaneously injected with L-rSOD in the tumor area showed a complete disruption of established mammary carcinomas, as monitored by nuclear magnetic resonance (NMR) scanning.

NMR

carcinomas


Input: We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes.

FALS

FALS


Input: We studied associations of genetic variants of folate metabolizing enzymes (MTHFR, MTR, and MTRR), DNA methyltransferase DNMT3b, and histone methyltransferases (EHMT1, EHMT2, and PRDM2), with colorectal cancers, with or without the CpG island methylator phenotype (CIMP), MLH1 hypermethylation, or microsatellite instability.

MTR

microsatellite instability


Input: This translocation joins the Ewing' s sarcoma gene (EWS) located on chromosome 22 to an ets family gene; either friend leukemia insertion (FLI) 1 located on chromosome 11, t (11; 22), or ets-related gene (ERG) located on chromosome 21, t (21; 22).

EWS

translocation


Input: Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our findings (although epigenetic mechanisms may be in effect), which support our hypotheses, suggesting that IL10 rs1800871 is a susceptibility marker for oropharyngeal and lung cancers, and that TNF rs1799964 is associated with smoking-related cancers among never smokers.

TNF

smoking


Input: Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene.

PRKAR1A gene

benign tumors


Input: In conclusion, molecular signatures were clearly different in noncancerous liver tissue as compared with the early and progressed components of nodule-in-nodule-type HCC.

HCC

nodule


Input: We investigated the association of the CETP TaqIB polymorphism with CHD, and sudden death in particular, in a prospective cohort of type 2 diabetic patients.

CETP

sudden death


Input: Levels and temporal patterns of expression of many circadian genes and SIRT1 significantly changed upon serum starvation in vitro, with differences among four different PC cell lines examined (BXPC3, CFPAC, MIA-PaCa-2 and PANC-1).

MIA

starvation


Input: A wealth of data indicates that neuropeptides, e. g., NPY, CRH, somatostatin, tachykinins and CGRP play a role in affective disorders and alcohol use/abuse.

NPY

affective disorders

NPY

affective disorders


Input: The first genome-wide association study on birth weight was recently published and the most significant associated birth weight lowering variant was the rs900400 C-allele located near LEKR1 and CCNL1.

birth weight