Input: Simultaneous downregulation of Bcl-x (L) was an additional requirement for cisplatin hypersensitivity, as p53-dependent cell death could be antagonized by exogenous Bcl-x (L).

Bcl-x

hypersensitivity


Input: Systemic miR-7 administration in a targeted, clinically safe delivery vesicle (EGFREDVTM nanocells) reduces ACC xenograft growth originating from both ACC cell lines and primary ACC cells.

vesicle


Input: We found positive correlations between the ZAC1 DMR methylation index (MI) and estimated fetal weight (EFW) at 32 weeks of gestation, weight at birth and weight at one year of age (respectively, r = 0. 15, 0. 09, 0. 14; P values = 0. 01, 0. 15, 0. 03).

weight


Input: The AT2 receptor function in lung stromal fibroblasts may be a potential modulator of tumor susceptibility in chemical carcinogen-induced lung tumorigenesis.

tumorigenesis


Input: Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.

pituitary tumour


Input: Autoimmune fatigue syndrome (AIFS) is characterized by chronic nonspecific complaints, consistently positive antinuclear antibodies (ANA), and lack of alternate medical explanations.

ANA

fatigue


Input: There were cases of seizure reduction regardless of N-CLB concentration decrease on STP, which suggests a significant anti-convulsant action of STP.

STP

seizure


Input: The hypermethylation of PPP2R2B or WIF-1 was associated with longer survival in laryngeal carcinoma cell lines.

laryngeal carcinoma


Input: In further support of this view, MCH-deficient mice developed attenuated toxin A-mediated intestinal inflammation and secretion, as did wild-type mice treated with an antibody against MCH or MCHR1.

MCH

inflammation


Input: Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans.

EDNRB

abnormalities


Input: For the present study, myometrial (UtSMC) and uterine leiomyoma (UtLM) cell lines and their human telomerase reverse transcriptase (hTERT) immortalized counterparts were evaluated by GTL-banding and spectral karyotyping.

telomerase reverse transcriptase

uterine leiomyoma


Input: At progression, besides trisomy 12 three concomitant balanced translocations t (2; 14) (p13; q32), t (14; 19) (q32; q13), and t (18; 22) (q21; q11) were found.

trisomy 12


Input: Modelling the impact of different genotypes and their statistical interactions on SDS-BMI change adjusting for age, gender and baseline BMI or SDS-BMI, respectively, revealed that the combination of the CC genotype in INSIG2 and the AA genotype in FTO was significantly associated with the lowest degree of overweight reduction, but even with an increase in overweight (SDS-BMI change + 0. 51; 95% CI 0. 22 to 0. 79).

FTO

overweight


Input: The loss of function mutations are associated with familial benign hypocalciuric hypercalcaemia (FHH), an autosomal dominant disease characterised by lifelong mild hypercalcaemia, low urinary calcium excretion, and inappropriate high parathyroid hormone levels, sometimes difficult to distinguish from mild asymptomatic primary hyperparathyroidism.

parathyroid hormone

mild


Input: Furthermore, C-ALCL and PTL-NOS showed aberrant expression of distinct genes implicated in apoptosis and proliferation, such as IRF4/MUM1 and PRKCQ, which may account for differences in clinical aggressiveness.

PTL

aggressiveness


Input: FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

hyperinsulinemia


Input: The RAG complex also appears capable of recognizing regions for their altered DNA structure rather than their primary sequence, and this may account for the action by RAGs at some chromosomal translocation sites, such as at the bcl-2 major breakpoint region in the follicular lymphomas that arise in B lymphocytes.

chromosomal translocation


Input: DEC1 expression was correlated with necrosis and with expression of HIF-1alpha, CA9, and VEGF.

VEGF

necrosis


Input: Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

familial idiopathic basal ganglia calcification

familial idiopathic basal ganglia calcification


Input: Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.

lipoprotein lipase

familial hyperchylomicronemia

lipoprotein lipase

familial hyperchylomicronemia


Input: The adjusted diastolic blood pressure response to Captopril was 3. 3 mm Hg lower in ACE2 T allele carriers than in CC genotype carriers (P = 0. 019) in women.

diastolic blood pressure


Input: We expanded human T-lymphotropic virus type 1 Tax-specific CTL in vitro from PBMC of three individual adult T cell leukemia/lymphoma (ATL) patients and assessed their therapeutic potential in an in vivo model using NOG mice bearing primary ATL cells from the respective three patients (ATL/NOG).

NOG

lymphoma


Input: ERP27, ITPR1, ERO1LB, TIMP1, IL12B) emerged as differently expressed genes between asymptomatic and symptomatic patients.

asymptomatic


Input: Increased Siglec-1 expression in monocytes of patients with primary biliary cirrhosis.

primary biliary cirrhosis


Input: SERCA3 expression was studied in gastric carcinoma tissue and cell lines by Western blot, reverse transcriptase-polymerase chain reaction, or immunofluorescence.

gastric carcinoma


Input: VEGFC and VEGFR1 mRNA overexpression is of prognostic value, dependent on HER2 status, in patients with high-risk early breast cancer undergoing adjuvant treatment.

VEGFC

breast cancer

VEGFC

breast cancer


Input: Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.

mild intellectual disability


Input: The oculocerebrorenal syndrome of Lowe (OCRL) (MIM: 309000) is an X-linked multisystemic disorder affecting the eyes, nervous system and kidneys due to mutations in OCRL1 gene.

MIM

nervous system


Input: This population is thought to represent the progenitor stage at which the bcl-2/IgH translocation occurs.

translocation


Input: Finally, PPARγ activation with rosiglitazone regimens that attenuated hypoxia-induced PH in vivo and human PAEC proliferation in vitro restored miR-98 levels.

PPARγ

hypoxia


Input: Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.

ASD

ASD


Input: Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.

genomic instability


Input: In the present study, we used ECM-degrading and Wnt signal-disrupting oncolytic adenovirus (oAd/DCN/LRP) to achieve a desirable therapeutic outcome against pancreatic cancer.

DCN

adenovirus


Input: Association between increased maspin expression and up-regulation of miR-21 in endometrial cancer suggests distinct and tissue-specific relationships of the 2 molecules in this type of malignancy and requires further studies that would reveal its clinical relevance.

maspin

endometrial cancer


Input: Breeding of heterozygous mutants yielded a normal Mendelian ratio among embryos on gestation day 9. 5; however, null mutant (Spca1 (-/-)) embryos exhibited growth retardation and did not survive beyond gestation day 10. 5.

growth retardation


Input: There were significant correlations between ALDH2 genotypes and alcohol drinking/smoking/history of esophageal cancer.

smoking


Input: Furthermore, our results revealed elevated waist/hip ratio, BMI, blood pressure, fasting blood glucose level, HOMA-IR, triglycerides, total cholesterol, resistin level, and decreased HDL cholesterol level in homozygote mutant genotypes carriers of both RETN polymorphisms among obese patients.

RETN

blood pressure


Input: We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas.

neonatal diabetes

neonatal diabetes


Input: Decreased levels of BDNF, as well as other neurotrophic factors, could contribute to the atrophy of certain limbic structures, including the hippocampus and prefrontal cortex that has been observed in depressed subjects.

BDNF

atrophy


Input: Leiomyosarcoma, sarcomatoid carcinoma, embryonal rhabdomyosarcoma and reactive myofibroblastic proliferations were negative for ALK-1 protein and ALK rearrangements.

ALK

carcinoma, embryonal


Input: The levels of PCNA and Bcl-2 were sequentially increased from hyperplasia to dysplasia and SCC.

PCNA

hyperplasia


Input: Activated CDC2 phosphorylates Bad at serine-128 and facilitates its translocation to the mitochondria, where Bad triggers apoptosis.

translocation


Input: Concurrently, cerebral abnormalities were greatly ameliorated as shown by reduced NSE and S-100 content of brain, decreased cytokine mRNA expressions, suppressed microglial activation, and enhanced infiltration of CD11b + and CD45 + cells into the brain.

abnormalities


Input: We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c. 636 + 471G > T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression.

HADH

mild


Input: Intraperitoneal administration of PYY (3-36) (0. 01-1mg/kg) and N-acetyl-[Leu28, Leu31]-NPY (24-36) (10mg/kg) significantly inhibited diarrhea (increase in wet fecal weight and diarrhea score) induced by dimethyl-prostaglandin E2, 5-hydroxytryptamine, and castor oil.

NPY

weight


Input: Impaired myocardial protein synthesis induced by acute alcohol intoxication is associated with changes in eIF4F.

acute alcohol intoxication

acute alcohol intoxication


Input: Reconstitution of MnSOD expression in several human cancer cell lines leads to reversion of malignancy and induces a resistant phenotype to the cytotoxic effects of TNF and hyperthermia.

MnSOD

hyperthermia

MnSOD

hyperthermia


Input: DBY is frequently deleted in infertile patients and its absence produces severe spermatogenic damage leading to a significant reduction of germ cells or even to their complete absence.

DBY

infertile


Input: Moreover, the N291S mutation conferred a significantly greater risk for developing cardiovascular disease in FH heterozygotes compared with FH heterozygotes without this LPL mutation (odds ratio, 3. 875; P =. 006).

LPL

cardiovascular disease


Input: The expression levels of Ets-1, p300 and CREB were increased in the peripheral blood of recurrent wheeze patients compared with normal control subjects and showed a strong linear correlation with the expression of ORMDL3.

CREB

wheeze


Input: We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers.

sporadic


Input: A significant degree of variable expressivity has been reported in heterozygous individuals with BMP4 or OTX2 mutation.

variable expressivity


Input: Since very little is known about neuroendocrine changes that occur in portal-systemic hepatic encephalopathy, we studied plasma prolactin (PRL) levels and the involvement of hyperammonemia, nitric oxide (NO) and dopaminergic and adrenergic systems in the control of this hormone secretion in a male rat model of prehepatic portal hypertension (PH).

PRL

hepatic encephalopathy


Input: We also assessed 4 recently published gene associations for sudden cardiac arrest, validating NOS1AP (p = 4. 50 × 10 (-2), OR = 1. 15, 95% CI: 1. 003, 1. 326), CSMD2 (p = 6. 6 × 10 (-3), OR = 2. 27, 95% CI: 1. 681, 2. 859), and AGTR1 (p = 3. 00 × 10 (-3), OR = 1. 13, 95% CI: 1. 042, 1. 215).

sudden cardiac arrest


Input: The R451C allele described in NLGN3, was analyzed with both human NLGN1 (R453C) and worm NLG-1 (R437C) proteins, and both were not functional in rescuing the osmotic avoidance behavior and the gentle touch response phenotype.

worm


Input: Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia.

PTH

mild


Input: In the present study, we sought to test the hypothesis that pharmacological induction of insulin resistance in a mouse transgenic (TG) for human IAPP would induce islet amyloid and beta-cell dysfunction.

IAPP

insulin resistance


Input: We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin.

abnormal pigmentation


Input: Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity.

MIM

cyclic neutropenia


Input: Furthermore, HRG treatment resulted in G3BP translocation to the nucleus and colocalization with acetylated histone H3, a hallmark of active transcription sites.

translocation


Input: Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46, XX, t (13; 17) (q34; p11. 2).

hemivertebra


Input: Further FISH indicated a breakpoint within fibroblast growth factor receptor 1 (FGFR1), the receptor tyrosine kinase that is known to be disrupted in a distinctive myeloproliferative disorder, most commonly by fusion to ZNF198.

FISH

myeloproliferative disorder


Input: The objective of the present study was to clarify the effect of the methylation of the apoptosis-related genes, Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) and death-associated protein kinase (DAPK), on the response to chemotherapy in metastatic or recurrent gastric cancers.

adenovirus


Input: Only one patient had a t (14; 18) translocation, whereas almost 40% of these 28 patients showed bcl-2 gene rearrangements by a PCR method.

bcl-2 gene

translocation


Input: In one of the two families (Family 3) with the autosomal recessive type of hypophosphatasia an affected subject had low NAP as well as low TALP, PLP and PEA.

NAP

hypophosphatasia


Input: CAL produced myocardial hypertrophy, which was most pronounced 28 days postinfarction as demonstrated by increases in both left ventricular weight-to-body weight ratio and atrial natriuretic peptide gene expression, both of which were abrogated by leptin receptor antagonism.

leptin receptor

body weight


Input: Finally, hypoxic induction of endogenous Tf mRNA was abrogated in Hepa1C4 cells, confirming that HIF-1 confers oxygen regulation of Tf gene expression by binding to the two HBSs present in the Tf enhancer.

Tf gene

hypoxic


Input: Bacterial TLR4 activation in epithelial cells leads to chemokine secretion and neutrophil recruitment and TLR4 mutant mice develop an asymptomatic carrier state.

asymptomatic


Input: Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric configuration, is the earliest symptom occurring in Usher syndrome type II (USH2).

mild


Input: We have constructed a recombinant defective adenovirus that expresses functional murine IFN-gamma-inducible protein-10 (IP-10) chemokine (AdCMVIP-10).

adenovirus


Input: In both these tumors primary translocation events dysregulating the BCL2 or c-MYC were identified to have occurred in a pre-B-cell.

translocation


Input: In these cases, mechanisms other than classic translocation may be deregulation Bcl-2.

translocation


Input: Interestingly, RAD51C-negative cells exhibited enhanced recruitment of non-homologous end joining (NHEJ) proteins onto chromatin and this accumulation correlated with increased activity of error-prone NHEJ as well as genome instability leading to cell death.

genome instability


Input: R271W, a Pit-1 mutant identified in one allele in patients with severe combined pituitary hormone deficiency, and Pit-1Delta1-123, a deletion mutant in which only the DNA binding domain of Pit-1 is conserved, were generated, and their ability to abolish the effects of the endogenous native Pit-1 in the differentiated proliferating somatolactotrope GH4C1 cell line was investigated.

pituitary hormone deficiency


Input: Taken together, these results show that PLZF-ERalpha is a potent repressor of estrogen-regulated gene expression and could be useful in distinguishing estrogen-regulated genes required for the growth of breast cancer cells.

PLZF

breast cancer


Input: Furthermore, METRNL administration rescued glucose intolerance and reduced HFD-induced body weight gain in mice; however, METRNL did not affect calorie intake.

METRNL

glucose intolerance

METRNL

glucose intolerance


Input: We found ATG2B, ATG5, ATG9B and ATG12 mutations in 10, 2, 13 and 0 cancers, respectively.

cancers


Input: In mice overexpressing human UCP-2, brain damage was diminished after experimental stroke and traumatic brain injury, and neurological recovery was enhanced.

stroke

stroke


Input: Deregulation of apoptosis is one of the important features of AML and to understand the molecular mechanism underlying apoptosis and its contribution to tumor progression, this study aimed to evaluate anti-apoptotic Bcl2 protein expression in AML and correlate with FLT3 parameters for their role in prognosis of disease. Bcl2 and FLT3 protein expression was quantified by flow cytometry on leukemic blasts in total 174 de novo AML, myelodysplastic syndrome (MDS) and aplastic anemia patients.

aplastic anemia


Input: Thus, by linking EMT, loss of polarity, and metastasis, ZEB1 is a crucial promoter of malignant tumor progression.

EMT

tumor progression


Input: XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth.

STS

XLI

STS

XLI


Input: We examined the expression of 19 angiogenic factors using antibody arrays in human tissues of various liver diseases, including HCC.

HCC

liver diseases


Input: Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: A significant number of patients infected with human immunodeficiency virus-1 (HIV-1) suffer cognitive impairment ranging from mild to severe HIV-associated dementia (HAD), a result of neuronal degeneration in the basal ganglia, cerebral cortex and hippocampus.

HAD

mild


Input: The impact of HIGT on endothelium-dependent vasodilation, nitrosyl-hemoglobin content (NO-Hb), and insulin sensitivity were studied using aortic ring preparations, electron spin resonance spectroscopy (ESR), homeostasis assessment of insulin resistance (HOMA-IR) calculations, and insulin tolerance testing (ITT).

ESR

insulin sensitivity


Input: These include HFE, a class 1 HLA molecule involved in hereditary hemochromatosis, the divalent metal transporter (DMT-1), hephaestin, the transferrin receptor, and mobilferrin.

DMT

hereditary hemochromatosis


Input: We investigated the effects of the topoisomerase I inhibitor, topotecan, on vascular endothelial growth factor (VEGF) induction by hypoxia in advanced-stage human neuroblastoma cells.

VEGF

hypoxia


Input: The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP.

XPAC

XP group A

XPAC

XP group A


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

WS

WS


Input: Moreover, we observed on cellular level that XRCC4 deficiency leads to hypersensitivity to DSB-inducing agents and defective DSB repair, which results in increased cell death after exposure to genotoxic agents.

hypersensitivity


Input: We found that while VEGF-A expression increased during atherogenesis, VEGF-D expression remained relatively stable only decreasing in complicated lesions.

VEGF-D

atherogenesis


Input: Assessment of these genes in the non-neoplastic cerebellum (from which medulloblastomas develop) revealed strong somatic methylation affecting S100A2 and S100A4, whereas S100A6 and S100A10 were unmethylated.

non-neoplastic


Input: To determine the parasite genotype in kala-azar patients from Northeastern Brazil, we sequenced the NAGT genes of L. infantum from 68 patients as well as the MIF1 and MIF2 genes from 76 different subjects with diverse clinical manifestations.

kala-azar


Input: We have previously demonstrated that the overexpression of the p130Cas adaptor protein in ErbB2 positive breast cancer, promotes tumor aggressiveness and progression.

aggressiveness


Input: Orthotopic xenografts of NUMB-transduced human U87 glioma cells could be established in nude rats without impairing engraftment or causing significant changes in morphology based on magnetic resonance imaging (MRI).

glioma


Input: Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels.

motor dysfunction


Input: Our results do not support an association of the INSIG2 gene with the regulation of body weight or parameters related to lipoprotein metabolism.

INSIG2 gene

body weight


Input: We studied expression patterns of Maspin in pTa/pT1 urothelial carcinoma of the bladder and compared them with microvessel density (MVD) for two vascular markers (CD34 and CD105) and correlated the findings with clinical outcome.

MVD

carcinoma of the bladder


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

neurofascin

schizophrenia

neurofascin

schizophrenia


Input: Twelve of 121 (10 per cent) gastric carcinomas from a low-incidence region were found to be RER +.

RER

carcinomas


Input: This study aimed to determine the dose effect of smoking on the mutational frequency and spectrum of epidermal growth factor receptor (EGFR) gene in Korean non-small cell lung cancer (NSCLC).

EGFR

smoking


Input: Levels of IL-8 and MIP-1 alpha mRNA were elevated not only in atopic patients but also in non-atopic patients with inflammatory skin disease associated with eosinophilia, compared with levels in psoriatic patients and healthy controls.

atopic


Input: TPH2 alleles and haplotypes are not significantly associated in our sample with autism (rs4570625: TDT P = 0. 27, and FBAT P = 0. 35; rs4565946: TDT P = 0. 45, and FBAT P = 0. 55; haplotype P = 0. 84), with any endophenotype, or with the presence/absence of prominent repetitive and stereotyped behaviors (motor stereotypies: P = 0. 81 and 0. 84, verbal stereotypies: P = 0. 38 and 0. 73 for rs4570625 and rs4565946, respectively).

TDT

stereotyped behaviors


Input: Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t (1; 14) (p22; q32).

MALT lymphoma

MALT lymphoma


Input: The AML1 transcription factor, identified by the cloning of the translocation t (8; 21) breakpoint, is one of the most frequent targets for chromosomal translocations in leukemia.

translocation


Input: This is the first report of mutations in the RYR1 gene involved in a severe form of CCD presenting as a fetal akinesia syndrome with AD and AR inheritances.

CCD

CCD


Input: The human colorectal tumor cell line LoVo has a homozygous deletion in the hMSH2 gene from exon 3 to exon 8, is deficient in mismatch repair (MMR) activity, and exhibits microsatellite instability.

MMR

microsatellite instability


Input: We examine current evidence that the transactive response DNA-binding protein (TDP-43) plays a pathogenic role in both amyotrophic lateral sclerosis and frontotemporal dementia.

DNA-binding protein

amyotrophic lateral sclerosis


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

Megalencephaly

Megalencephaly


Input: Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

phenylalanine hydroxylase

phenylketonuria

phenylalanine hydroxylase

phenylketonuria


Input: Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68.

neuritis


Input: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Lathosterolosis

Lathosterolosis


Input: The FOS promoter showed 13. 9%, 32. 4%, and 70. 8% of the transcriptional activity of CMV in three glioma cell lines (U87, U251, and U373).

glioma


Input: Only in one M006X tumour was there a suggestion of increased VEGF expression in cells adjacent to necrosis.

VEGF

necrosis


Input: To determine if CD4 (+) CD28 (null) T cells are involved in the immunopathological process of atherosclerotic damage in end-stage renal disease (ESRD) patients undergoing hemodialysis (HD), we characterized peripheral-blood CD4 (+) CD28 (null) T cells from HD patients and investigated the association between these cells and early atherosclerotic damage.

end-stage renal disease


Input: Here, we report for the first time comprehensive functional effects of term placental KPs on proliferation, adhesion, Matrigel invasion, motility, MMP activity and pro-inflammatory cytokine production in MDA-MB-231 (estrogen receptor-negative) and MCF-7 (estrogen receptor-positive).

estrogen receptor

adhesion


Input: Abnormal distribution, modification and aggregation of transactivation response DNA-binding protein 43 (TDP-43) are the hallmarks of multiple neurodegenerative diseases, especially frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS).

DNA-binding protein

amyotrophic lateral sclerosis


Input: The uncontrolled generation of IFN-gamma-producing CD4 (+) T cells (Th1 type) has been shown to play a causal role in the development of enterocolitis affecting these mutants.

enterocolitis


Input: Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein.

PEHO syndrome

PEHO syndrome


Input: Taken together, these data indicate that the HSAN1 mutations perturb the active site of SPT resulting in a gain of function that is responsible for the HSAN1 phenotype.


Input: This study underlines the accuracy conferred by homogenous LCM samples on gene expression profiles and confers further evidence regarding the role of ADAM12 and 17 in the breast tumorigenesis and progression.

tumorigenesis


Input: We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found.

COL2A1 gene

abnormal development


Input: The results indicated statistically significant lower protein and mRNA levels of the N-methyl-D-aspartate receptors, NR-1 and NR-3A, but significantly higher protein and mRNA levels of interleukin (IL)-1beta, the IL-1 receptor (IL-1R), myeloid differentiation factor 88, nuclear factor-kappa B subunits, and astroglial and microglial markers (glial fibrillary acidic protein, inducible nitric oxide synthase, c-fos and CD11b) in postmortem frontal cortex from BD compared with control subjects.

glial fibrillary acidic protein

BD

glial fibrillary acidic protein

BD


Input: The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21.

SHOX gene

translocation


Input: Further studies are needed to evaluate the involvement of CART in other components of the cocaine abuse cycle.

CART

cocaine abuse

CART

cocaine abuse


Input: Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD).

pituitary hormone deficiency


Input: The results of the present study show that the anti-diabetic drug troglitazone sensitizes human glioma and neuroblastoma cells to TRAIL-induced apoptosis.

TRAIL

neuroblastoma

TRAIL

neuroblastoma


Input: These data demonstrate that addiction to the NF-kappaB pathway is frequent in myeloma and suggest that IKKbeta inhibitors hold promise for the treatment of this disease.

NF-kappaB

addiction


Input: In the current study, we sought to determine whether variation within the human Sapap3 gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and/or trichotillomania) and/or obsessive-compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies.

trichotillomania


Input: This effect was important insofar as mammary tumorigenesis was delayed and tumor multiplicity was reduced by genetic deletion of CX3CL1 in HER2/neu mice, but not in polyoma middle T-antigen oncomice.

mammary tumorigenesis


Input: These observations were supported by quantitative reverse transcription-polymerase chain reaction, for miR-328, miR-17-5p, miR-134, miR-652, miR-382, and miR-107 and were consistent with a schizophrenia-associated increase in miRNA processing through elevated Dicer expression.

schizophrenia

schizophrenia


Input: We compared the leukemia cell gene expression profiles of 16 TEL/AML1-positive ALL patients to those of 44 TEL/AML1-negative patients, whose blast cells did not contain any additional recurrent translocation.

translocation


Input: Inactivation of the genes involved in DNA mismatch repair (MMR) is associated with microsatellite instability (MSI) and loss of heterozygosity (LOH).

MMR

microsatellite instability


Input: The ider (17) (q10) t (15; 17) is a relatively rare chromosomal rearrangement in acute promyelocytic leukemia patients.

acute promyelocytic leukemia


Input: The initial study found that urine concentrations of the metabolites 1, 2-dihydroxy-4-(acetyl) butane (M1) and 1-dihydroxy-2-(N-acetylcysteinyl)-3-butene (M2) and blood concentrations of the hemoglobin adducts N-[2-hydroxy-3-butenyl] valine (HB-Val) and N-[2, 3, 4-trihydroxy-butyl] valine (THB-Val) constitute excellent biomarkers of exposure, both being highly correlated with BD exposure levels, and that GST genotypes modulate at least one metabolic pathway, but that irreversible genotoxic effects such as chromosome aberrations and HPRT gene mutations are neither associated with BD exposure levels nor with worker genotypes (GST [glutathione-S-transferase]-M1, GSTT1, CYP2E1 (5' promoter), CYP2E1 (intron 6), EH [epoxide hydrolase] 113, EH139, ADH [alcohol dehydrogenase] 2 and ADH3).

chromosome aberrations


Input: To challenge this notion, here we describe the unique properties of the E79K cationic trypsinogen mutation (c. 235G & gt; A), which was identified in three European families affected by sporadic or familial pancreatitis cases.

cationic trypsinogen

familial pancreatitis

cationic trypsinogen

familial pancreatitis


Input: When HepG2 cells were transfected with ARK5 expression vector and subjected to several cell death stimuli, ARK5 was found to suppress cell death by glucose starvation, TRAIL, and TNF-alpha, but not by ultraviolet irradiation, camptothecin, or doxorubicin.

TNF-alpha

starvation


Input: These results suggest that ISO-induced cardiac hypertrophy is mediated, at least in part, by IGF-I, the expression of which is upregulated through the activation of AT1 receptor.

IGF-I

cardiac hypertrophy

IGF-I

cardiac hypertrophy


Input: A MIF haplotype is associated with the outcome of patients with severe sepsis: a case control study.

MIF

severe sepsis


Input: Treatment with an inhibitor of EZH2 markedly increased expression levels of RAD51 and BRCA1 in fibroid cells and inhibited cell proliferation paired with cell cycle arrest.

fibroid


Input: Overall, there was no relationship between TRAP exposure during the first year of life and current asthma, wheeze and hay fever at ages 12 or 18 years.

TRAP

asthma


Input: However, with the recent identification of SREBF1 as a risk locus for sporadic PD, our findings suggest a common mechanistic link between autosomal recessive and sporadic PD, and underscore the importance of mitochondrial homeostasis.

sporadic


Input: A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.

insulin-like growth factor 1

IGF1) deficiency

insulin-like growth factor 1

IGF1) deficiency


Input: The development of new techniques such as FISH, comparative genomic hybridisation (CGH) and a whole range of molecular methods is being applied to identify abnormalities in this relatively common B-cell leukaemia.

FISH

leukaemia


Input: We have identified c-kit gene mutations in three patients with piebaldism.

c-kit

piebaldism

c-kit

piebaldism


Input: The mono-allelic loss of the IGF-I receptor (IGF1R) gene was confirmed in a child with prenatal and severe postnatal growth retardation by fluorescence in situ hybridization, and was evaluated on the protein level in fibroblasts of the patient by FACS analysis and IGF cross-linkage.

mono


Input: On the other hand, we found the lack of cosegregation between blood pressure and the nerve growth factor receptor gene, which is linked to a hypertensinogenic gene locus (denoted as BP/SP-1) on chromosome 10.

nerve growth factor receptor gene

blood pressure


Input: Treatment with anti-glomerular basement membrane antibody in calponin knockout mice induced more severe nephritis than in wild type mice, as judged from an increase in the urinary protein excretion, glomerular cellularity, and number of proliferating cell nuclear antigen-positive cells in glomerulus.

proliferating cell nuclear antigen

nephritis


Input: In cultured fibroblasts of patients with numerical and structural X chromosome aberrations the activity of steroid sulfatase (STS) is correlated with the number of functional STS gene copies.

STS gene

chromosome aberrations


Input: Post-stroke depression (PSD) is a mental illness characterized by subjective feelings of depression, cognitive dysfunction, and decreased interest.

PSD

stroke


Input: However, how Wnt10b regulates skin tumorigenesis remains largely unknown.

tumorigenesis


Input: We have exploited the possibility of using deletions of other tumour types, preferentially that of germ cell tumours, and combining the deletions with that of the neuroblastoma SRO.

SRO

neuroblastoma


Input: The synovial sarcoma translocation t (X; 18) (p11. 2; q11. 2) results in the fusion of the SYT gene on chromosome 18 to exon 5 of either SSX1 or SSX2 genes on chromosome X.

translocation


Input: In isolated glomeruli from mice injected with polyIC, expressions of CD80 and interleukin 10 significantly increased with a mild non-significant increase in CTLA-4, and synaptopodin expression decreased significantly.

interleukin 10

mild


Input: To provide direct evidence that MIA plays a role in metastasis of malignant melanomas, A-mel 3 hamster melanoma cells were transfected with sense-and antisense rhMIA cDNA and analysed subsequently for changes in their tumorigenic and metastatic potential.

MIA

hamster melanoma


Input: We determined the incidence of TEL/AML1 translocation with reverse transcriptase polymerase chain reaction (RT-PCR) and flow-cytometric immunophenotyping of newly diagnosed pediatric acute lymphoblastic leukemia patients in Thailand.

translocation


Input: In order to investigate how chronic liver diseases, including liver cirrhosis and chronic hepatitis, are associate with hepatocarcinogenesis in terms of gene alteration, the methylation states of the c-myc and c-Ki-ras genes were examined in 34 liver tissues from patients with chronic liver disease without hepatocellular carcinoma (HCC), 34 non-tumor liver tissues from patients with HCC, 18 HCC tissues and 31 control liver tissues.

c-myc

chronic liver disease


Input: Messenger RNA of heat shock protein 70 was induced in dentate gyrus and CA3 and CA4 subfields of the hippocampus 1 h after ischaemia.

ischaemia


Input: We conclude that these polymorphisms of the TNF genes are unlikely to contribute to atopic disease risk in our population.

TNF

atopic


Input: To explore the role and mechanisms of FOXO3a nuclear translocation in neuronal apoptosis after hypoxia-ischemia (HI).

hypoxia


Input: Therefore, the characteristic aldosterone excess of PA patients may mediate the down-regulation of PCK1, PLIN and ADIPOQ in VAT that in turn may contribute to the insulin resistance observed in PA patients.

insulin resistance


Input: Our findings have identified, for the first time, novel molecular targets and pathways that led to apoptosis in melanoma cells when Ad-E2F-1 was combined with doxorubicin.

melanoma

melanoma


Input: Robust NME1 expression was achieved following infection with the Ad5-NME1 adenovirus in the human metastasis-derived cell lines WM1158 (melanoma) and WRO82 (follicular thyroid carcinoma), resulting in wide-ranging effects on gene expression in both settings.

adenovirus


Input: PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study.

WT1 gene

desmoplastic


Input: We aimed to evaluate whether the frequency of three polymorphisms in hypoxia-induced factor-1α (HIF-1α), vascular endothelial growth factor A (VEGFA), and KDR (encoding vascular endothelial growth factor receptor 2) genes was higher in alcoholics presenting liver disease (ALD) and ALD patients who developed HCC.

VEGFA

hypoxia


Input: RAD51 (pY315) facilitates dissociation from the complex with BCR-ABL1 kinase, migrates to the nucleus, and enhances formation of the nuclear foci indicative of recombination sites.

dissociation


Input: Evidence indicates that all three proteins are increased in the presence of insulin resistance and factor VII and PAI-1 correlate strongly with circulating levels of insulin and lipids.

factor VII

insulin resistance


Input: Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.

apparent mineralocorticoid excess

apparent mineralocorticoid excess


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: CD26 was not detected on normal SC or LSC in other hematopoietic malignancies.

LSC

hematopoietic malignancies


Input: Grouping patients by the VDR gene polymorphism, only PTH continued to be an independent predictor of spinal bone density in the bb allele subgroup (R (2) Adj. = 0. 17).

PTH

bone density


Input: These data allowed us to draw a conclusion that 8-Cl-Ado-enhanced DR5 expression is regulated by Sp1 binding to the-198/-189 cis-element in DR5 promoter without affecting NF-kappaB activity in the hepatoma cells.

hepatoma


Input: The serotonin transporter gene (SLC6A4) is a strong autism candidate gene because of its association with anxiety, aggression and attention, and the effectiveness of selective serotonin reuptake inhibitors (SSRIs) in treating certain behavioral symptoms.

aggression


Input: Together, our data suggest that p300 HAT activity mediates critical growth regulatory pathways in tumor cells and may serve as a potential therapeutic target for melanoma and other malignancies by promoting cellular responses to DNA damaging agents that are currently ineffective against specific cancers.

p300 HAT

melanoma

p300 HAT

melanoma


Input: The results showed that (1) PM2. 5 deposited in the lung and induced pathological damage, particularly causing abnormal alterations of mitochondrial structure, including mitochondrial swelling and cristae disorder or even fragmentation in the presence of higher doses of PM2. 5; (2) PM2. 5 significantly affected the expression of specific mitochondrial fission/fusion markers (OPA1, Mfn1, Mfn2, Fis1, and Drp1) in rat lung; (3) PM2. 5 inhibited Mn superoxide dismutase (MnSOD), Na (+) K (+)-ATPase, and Ca (2 +)-ATPase activities and elevated malondialdehyde (MDA) content in rat lung mitochondria; and (4) PM2. 5 induced rat AMs to produce ROS, which was inhibited by about 84. 1% by diphenyleneiodonium chloride (DPI), an important ROS generation inhibitor.

mitochondrial swelling


Input: Direct sequencing of the Bcl-2/IgH translocation performed at diagnosis and recurrence showed identical rearrangements in six subjects and unrelated rearrangements in two.

translocation


Input: A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

glucocorticoid receptor

generalized glucocorticoid resistance

glucocorticoid receptor

generalized glucocorticoid resistance


Input: Patients diagnosed with both autism and ASP showed significantly increased levels of EPA (approximately 200%) and DHA (approximately 40%), and significantly reduced levels of ARA (approximately 20%), 20: 3n-6 and ARA/EPA ratio in their RBC polar lipids, when supplemented with EPA-rich fish oils, compared to controls and non-supplemented patients with autism.

ASP

autism


Input: The activation of B-cell-specific genes, such as CD19 and PAX5, is a hallmark of t (8; 21) acute myeloid leukemia (AML) which expresses the translocation product RUNX1/ETO.

translocation


Input: Ovarian malignancies occurring in the setting of hereditary nonpolyposis colorectal carcinoma syndrome typically present in young women, often as the first or " sentinel " cancer, but the frequency of microsatellite instability (MSI) and mismatch repair (MMR) defects in ovarian surface epithelial malignancies in women < or = 50 years of age is neither well known nor well tested.

MMR

microsatellite instability


Input: Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton' s tyrosine kinase.

Bruton' s tyrosine kinase

X-linked agammaglobulinaemia

Bruton' s tyrosine kinase

X-linked agammaglobulinaemia


Input: This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype.

WS-III

WS-III


Input: In individuals with normal glucose metabolism, the-374A allele of the RAGE gene is protectively associated with blood pressure and arterial stiffness, whereas in individuals with impaired glucose metabolism or type 2 diabetes mellitus, it is adversely associated with these variables.

RAGE

arterial stiffness


Input: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

oral-facial-digital syndrome

oral-facial-digital syndrome


Input: Aging exacerbated the HFD-induced NASH such that liver steatosis, inflammation, fibrosis, oxidative stress, and liver injury markers were greatly enhanced in middle-aged versus young LDLR (-/-) mice.

LDLR

fibrosis


Input: Aim of the study was analysis of dependence of clinical picture and degree of severity of left ventricular hypertrophy (LVH) on polymorphism A/C of ATR1 gene in patients with hypertrophic cardiomyopathy (HCMP) and hypertensive disease (HD).

left ventricular hypertrophy


Input: One hundred seventy-seven vulvar intraepithelial neoplasms (VIN), squamous cell carcinomas (SCC), and benign squamous epithelia were analyzed for p16 expression.

VIN

intraepithelial neoplasms


Input: β2-Glycoprotein I (β2-GPI), also designated apolipoprotein H, is a 50-kDa protein that circulates in blood at high concentrations, playing important roles in autoimmune diseases, hemostasis, atherogenesis, and angiogenesis, as well as in host defense against bacteria and in protein/cellular waste removal.

apolipoprotein H

atherogenesis


Input: Only 4. 5% of patients with factor V Leiden presenting with acute PE had hypoxaemia.

factor V Leiden

hypoxaemia


Input: DFSP is characterized by a chromosomal translocation involving the collagen type I a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22.

PDGFB

chromosomal translocation


Input: The current investigation focused on detection of PtdSer on the outer leaflet of the bilayer in synaptosomes from brain of subjects with AD and amnestic mild cognitive impairment (MCI), as well as expression levels of apoptosis-related proteins Bcl-2, Bax, and caspase-3.

AD

AD


Input: MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.

microsatellite instability


Input: These observations demonstrate that INI1 has a masked NES that mediates regulated hCRM1/exportin1-dependent nuclear export and we propose that mutations that cause deregulated nuclear export of the protein could lead to tumorigenesis.

NES

tumorigenesis


Input: The bcl-2 gene, isolated from the t (14; 18) chromosomal translocation breakpoint, is able to prevent apoptotic death induced by various stimuli in different tissues.

bcl-2 gene

chromosomal translocation


Input: We investigated the effect of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-γ (IFNG), an inducer of CIITA; on bone density, bone resorption markers, bone loss and fracture risk in 75 year-old women followed for up to 10 years (OPRA n = 1003) and in young adult women (PEAK-25 n = 999).

bone density


Input: MUC1 enhances hypoxia-driven angiogenesis through the regulation of multiple proangiogenic factors.

hypoxia


Input: The in vivo role of Bcl-2 in melanoma cells thus differs significantly from its in vitro role, and these experiments further suggest that Bcl-2 may be an important therapeutic target even in tumors that do not contain the t14: 18 translocation.

translocation


Input: Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.

shock


Input: We identified 10 eligible studies that evaluated six VDR variants (Apa1, Bsm1, Cdx2, EcoRV, Fok1, and Taq1) in a total of 4, 961 melanoma patients and 4, 605 controls.

melanoma


Input: As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region.

MRI

spongy degeneration of the brain


Input: It has been postulated that the Th1 cytokine IFNgamma, acting through its heterodimeric receptors, IFNgammaR1 and IFNgammaR2, in the induction/proliferation of Th1 cells, might suppress the Th2 responses that may underlie atopic asthma.

atopic asthma


Input: Global ischemia led to extensive cell death in the striatum, thalamus, and in the CA1 and CA2, and less-pronounced cell death in the CA3 and dentate gyrus (DG) hippocampal subfields.

ischemia


Input: VIP did not stimulate HIF-1alpha mRNA expression but increased the translocation of HIF-1alpha from the cytosolic compartment to the cell nucleus.

translocation


Input: We measured and compared previously significant human leukocyte antigen (HLA) class II DQ alleles, their linked DRB genes, and polymorphisms in selected cytokine genes (tumor necrosis factor alpha-308 promoter; transforming growth factor beta1-10 and-25 codons; interleukin 10-1082,-819, and-592 promoters; interleukin 6-174 promoter; and interferon gamma + 874 codon 1) among Kenyan women with confirmed tubal infertility with and without C trachomatis microimmunofluorescence antibody.]

interleukin 6

infertility


Input: Here we describe the relationship between IL-21 and antibodies for erythrocyte-binding antigen-175 (EBA-175) peptide 4, a malaria vaccine candidate in Gabonese children with acute falciparum malaria.

falciparum malaria


Input: Using RNA interference, we showed on glioma cell lines (U87 and U251) that EPOR silencing induces a G2/M cell cycle arrest, consistent with the slowdown of glioma growth induced by EPOR knock-down.

glioma


Input: Therefore, Myc suppresses p27 (Kip1) expression, accelerates cell proliferation and promotes tumorigenesis at least in part through its ability to selectively induce Cks1.

tumorigenesis


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

BDNF

seizures

BDNF

seizures


Input: Histological examination revealed that the combination therapy led to significant increased induction of apoptosis, tumor necrosis, and elevated CD8 (+) lymphocyte infiltration.

tumor necrosis


Input: Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT), as well as overall survival.

HPT

medullary thyroid carcinoma


Input: Calcitonin injection resulted in a potentiation of haloperidol-induced catalepsy and a partial prevention of apomorphine-induced hyperactivity.

Calcitonin

catalepsy

Calcitonin

catalepsy


Input: Recent reports have indicated that p63 plays important role in tumorigenesis as well.

tumorigenesis


Input: Mechanistically, miR-9 expression down-regulated NF-κB1 in melanoma and the effect was abolished by mutations in the putative miR-9 binding sites within the 3'-untranslated region (UTR) of NF-κB1.

UTR

melanoma


Input: T1D risk-associated haplotypes (DR4)-DQA1 * 0301-DQB1 * 0302, (DR3)-DQA1 * 0501-DQB1 * 0201, and (DR1)-DQA1 * 0101-04-DQB1 * 0501 were more prevalent among children with diabetes than controls (50. 0%, 41. 1%, and 37. 9% vs. 10. 3%, 5. 1%, and 24. 4%, P < 0. 001).

diabetes


Input: While patients affected by these disorders show definitive altered parameters related to erythropoiesis, the relationship between the degree of anemia, altered erythropoiesis, and dysfunctional iron metabolism has not been investigated in both α-thalassemia carriers (ATC) and β-thalassemia carriers (BTC).

BTC

anemia


Input: Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia?

alpha gene

hyperhomocysteinemia


Input: These data highlight the potential utility of eNOS gene therapy in the treatment of hypertension and insulin resistance.

eNOS

insulin resistance

eNOS

insulin resistance


Input: The stimulatory effect on migration was blocked by an adenosine receptor antagonist, MRS1754, ARL67156, an ecto-ATPase inhibitor, and A2A receptor siRNA, suggesting that in contrast to ATP, adenosine, a metabolic product of ATP, promoted migration of breast cancer cells.

ecto-ATPase

breast cancer


Input: Our results showed that over-expression of LSD1 protein were associated with shorter overall survival of NSCLC patients.

NSCLC

NSCLC


Input: The FISH and HR-CGH analyses showed frequent occurrence of trisomy 12, del (11) (q23), del (17) (p13) and genetic imbalances, but recurrent genetic lesion characteristic for CLL/PL was not found.

trisomy 12


Input: The frequency of each HLA-DRB1 allele was not significantly different between patient group with pre-eclampsia negative for ACA and group of normal fertile women.

pre-eclampsia


Input: Specifically, mice null for nrip1 gene are viable, but females are infertile because of complete failure of mature follicles to release oocytes at ovulation stage.

nrip1 gene

infertile


Input: Disruption of the C57BL/6J Polι conferred 129X1/SvJ-like sensitivity on the C57BL/6J Par2 locus and increased the in vivo mutation frequency in the lung, providing definitive proof that Polι causes the Par2 effect and inhibits tumorigenesis and mutagenesis, despite its extreme replication infidelity.

tumorigenesis


Input: These results imply that the AT2 receptor negatively regulates the level of active TGF-beta and thus increases NNK-induced lung tumorigenesis.

tumorigenesis


Input: There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B).

Charcot-Marie-Tooth disease type 2B

Charcot-Marie-Tooth disease type 2B


Input: The inter-scan variability and relation between NER (plaque) and gadolinium (assessed with inductively coupled plasma-mass spectrometry) were compared between inversion-recovery fast spin echo and fast spin echo.

NER

plaque


Input: To study the retinal degeneration in an 11-year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D.

retinal degeneration


Input: Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the circle of Willis.

MMD

cerebrovascular disease


Input: Dox was intraperitoneally injected to induce cardiomyopathy in wild type (WT) and PACAP knockout (ie, PACAP +/-and PACAP-/-) mice.

PACAP

cardiomyopathy

PACAP

cardiomyopathy


Input: In particular, CTSL was related to lymph node metastasis, CC was related to liver metastasis and omental metastasis, and CTSB and CTSL expression levels were found to be independent prognostic factors in ovarian cancer.

CTSB

liver metastasis


Input: The densitometric analysis of slot blots showed that the mean steady-state mRNA level of PTX3 was 3. 5-fold higher in the melancholic group as compared to that in normal controls and in nonmelancholic depressives (n = 8, all groups).

melancholic

melancholic


Input: Given the risk factor and histological similarities between coronary and calcific valvular heart disease (aortic stenosis [AS] and mitral annular calcification [MAC]), we postulated that apoE alleles might be associated with the development of these valvular lesions.

MAC

aortic stenosis


Input: Intra-amniotic infection upregulates neutrophil gelatinase-associated lipocalin (NGAL) expression at the maternal-fetal interface at term: implications for infection-related preterm birth.

NGAL

preterm birth


Input: In vitro, Wnt4 induced proliferation and inflammation in human epithelial cells (BEAS-2B) and normal primary human bronchial epithelial cells in a concentration-dependent manner.

inflammation


Input: Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c. 496T & gt; G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.

SMS

Snyder-Robinson syndrome

SMS

Snyder-Robinson syndrome


Input: Among former smokers with lung cancer, multivariate analysis showed that, independent of pack-years, increasing smoking-free years raise the likelihood of EGFR mutation.

EGFR

smoking


Input: Unlike complete or 50% loss, 80% loss of PU. 1 induced a precancerous state characterized by accumulation of an abnormal precursor pool retaining responsiveness to G-CSF with disruption of M-and GM-CSF pathways.

PU. 1

precancerous state


Input: Moreover, our data imply that alterations due to the C9ORF72 mutation resulting in TDP-43 accumulation and dysmetabolism as secondary downstream effects likely play a central role in the neurodegenerative process in C9ORF72 pathogenesis.

secondary


Input: In the preestablished 3LL and B16 tumor models, vaccination with DC-based or LacZ-DC-based tumor RNA vaccines (2 X 10 (5) cells) could reduce pulmonary metastasis and extend survival of tumor-bearing mice, but was less effective than the Lptn-DC counterpart (with 60-80% mice surviving).

Lptn

pulmonary metastasis


Input: In a patient with bilateral congenital ASOD including aniridia and aphakia, a complex chromosomal rearrangement, inv (2) (p22. 3q12. 1) t (2; 16) (q12. 1; q12. 2), was characterized at the molecular level, to identify candidate genes implicated in ASOD.

aphakia


Input: The t (14; 18) translocation, a chimeric DNA containing portions of the bcl-2 and the immunoglobulin heavy chain (IgH) genes, was amplified from four of 27 isolated HRS cells and two individual FL follicles.

translocation


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: This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome.

seizures


Input: One case of der (21) duplication with ETV6/RUNX1 exhibited a novel MLL translocation variant t (6; 11) (p21. 1p23; q13q25), with translocation of 3' telomeric MLL and deletion of 5' centromeric MLL.

translocation


Input: Based on these facts, a new hypothesis was suggested that EMT induces cancer stem cell generation and tumor progression in human thyroid cancer cells in vitro.

EMT

tumor progression


Input: We present the case of a 5-year-old girl who experienced back pain (day 1); on day 10, the pain had exacerbated and involuntary movements in the lower limbs occurred, and an MRI performed in her local hospital revealed a tumor lesion at the upper thoracic level.

MRI

back pain


Input: The cyclin E-cyclin-dependent kinase 2 (CDK2) complex accelerates entry into the S phase of the cell cycle and promotes polyploidy, which may contribute to genomic instability in cancer cells.

polyploidy


Input: ACTB and TB10 mRNAs were also decreased in bipolar disorder.

ACTB

bipolar disorder

ACTB

bipolar disorder


Input: In summary, our data suggested that the hOGG1 Cys/Cys genotype may be a genetic susceptibility marker for NIHL in the Chinese Han population.

NIHL

NIHL


Input: Mutations in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS, FUS) have been identified in sporadic and familial forms of amyotrophic lateral sclerosis (ALS).

FUS

sporadic


Input: These data establish an important biochemical function for CGI-58 in the lipolytic degradation of fat, implicating this lipolysis activator in the pathogenesis of CDS.

CDS

CDS


Input: Milk fat globule--epidermal growth factor--factor VIII (MFGE8)/lactadherin promotes bladder tumor development.

factor VIII

bladder tumor


Input: Moreover, KLF5 insufficiency abolished the ability of bladder cancer cells to induce neovascularization in rabbit cornea.

neovascularization


Input: Although this rearrangement involves 2 well-characterized transcription factors, TEL and AML1, the molecular pathways affected by the result of the translocation remain largely unknown.

translocation


Input: Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: Applying an endophenotype approach, we investigated a potential impact of the genes of the 5-HT3A and 5-HT3B subunits as well as the novel 5-HT3C, 5-HT3D, and 5-HT3E subunits on CPT performance in subjects with schizophrenia.

schizophrenia

schizophrenia


Input: We genotyped four microsatellite markers and nine single nucleotide polymorphism (SNP) markers within or near the PRKCZ gene in the UCL case-control sample of 600 bipolar disorder patients and up to 605 supernormal controls.

PRKCZ

bipolar disorder

PRKCZ

bipolar disorder


Input: Frequencies of NOS3 G894T, 4b/a and T (-786)--> C, AGT T704C and ACE ins/del polymorphisms were studied in 342 subjects: 120 with preeclampsia (PE), 104 with gestational hypertension and 118 normotensive pregnant women.

preeclampsia


Input: Here we show that 25% of AML patients down-regulate FLT3 expression on blasts in response to in vitro hypoxia (1% O2), which was independent of its mutational state.

hypoxia


Input: We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis.

HFE

hemochromatosis

HFE

hemochromatosis


Input: We found sequences homologous to retroviral pol genes in the cell-free cerebrospinal fluids (CSFs) of 10 of 35 (29%) individuals with recent-onset schizophrenia or schizoaffective disorder.

pol

schizophrenia

pol

schizophrenia


Input: We found an increase in KIR2DS2 in lupus patients with vascular arterial events, but not in patients with vasculitis.

lupus


Input: The genes validated as critical for influenza virus replication were ADAMTS7, CPE, DPP3, MST1, and PRSS12, and pathway analysis showed these genes were in global host cell pathways governing inflammation (NF-κB), cAMP/calcium signaling (CRE/CREB), and apoptosis.

inflammation


Input: Transcript upregulation of anti-oxidative enzymes (Aldh1a1 and Nqo1), cell cycle-related molecules (Cdc20 and Cdkn2b) and inflammation-related molecules including proinflammatory cytokines (Ccl2, Col1a1, Il6, Nos2 and Serpine1) was also evident.

inflammation


Input: We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2. 5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot.

NKX2. 5

sporadic


Input: Patients with genotype C and/or GSTM1 deficiency developed carcinoma after less tobacco consumption than those of other genotypes though the difference was not statistically significant.

carcinoma


Input: This study showed increased expression of the genes involved in pronociceptive inflammatory reactions in interstitial cystitis, including TRPV1, 2 and 4, ASIC1, NGF and CXCL9, and to our knowledge TRPM2 for the first time.

interstitial cystitis


Input: The authors used immunohistochemistry to examine the expression of NF-kappaB and the signaling molecules leading to NF-kappaB activation in 36 untreated biopsy specimens from patients with squamous cell carcinoma (SCC) and in 15 specimens from patients with epithelial dysplasia of the oral cavity.

NF-kappaB

epithelial dysplasia


Input: The absence of a functional AURKC gene causes primary infertility in men by blocking the first meiotic division and leading to the production of tetraploid large-headed spermatozoa.

AURKC gene

primary infertility


Input: Using a human keratinocyte model of tumor progression, we have examined the regulation of gene expression and secretion of a parathyroid hormone-like peptide (PLP) that has been implicated in the pathogenesis of hypercalcemia in cancer.

PLP

tumor progression


Input: Our findings were: (1) Serum levels of OPG were raised in patients with unstable angina (n = 40), but not in those with stable angina (n = 40), comparing controls (n = 20); (2) mRNA levels of RANKL were increased in T-cells in unstable angina patients accompanied by increased expression of RANK in monocytes; (3) strong immunostaining of OPG/RANKL/RANK was seen within thrombus material obtained at the site of plaque rupture during acute myocardial infarction; (4) OPG/RANKL/RANK was expressed in the atherosclerotic plaques of apoE (-/-) mice, with RANKL located specifically to the plaques; and (5) RANKL enhanced the release of monocyte chemoattractant peptide-1 in mononuclear cells from unstable angina patients, and promoted matrix metalloproteinase (MMP) activity in vascular smooth muscle cells.

OPG

stable angina


Input: Peanut agglutinin staining revealed various abnormalities of acrosomes in Bscl2-/-late spermatids, including the absence, irregular-shaped, and fragmented acrosomes, indicating defective acrosome formation in Bscl2-/-late spermatids, which may affect late spermatid orientation in the seminiferous epithelium.

abnormalities


Input: To data, epidemiological studies have assessed the association between peptidyl-propyl-cis/trans isomerase 1 (PIN1) gene polymorphisms and cancer risk, including breast cancer, hepatocellular carcinoma, lung cancer, esophageal cancer, head and neck squamous cell carcinoma, and laryngeal squamous cell cancer.

hepatocellular carcinoma


Input: Analysis of the MSP-in-situ sections showed that the distribution of methylated cells in esophageal carcinoma differed from that in gastric carcinoma.

MSP

esophageal carcinoma


Input: In the wildtype cell line, ionizing radiation alone induced hypoxia-dependent VEGF-expression but a strong dominant counteracting effect of patupilone was always observed when ionizing radiation was combined with patupilone, on the level of HIF-1α protein stability, VEGF-expression and VEGF-secretion.

VEGF

hypoxia


Input: The presence (n = 1696) or absence (n = 703) of carotid atherosclerosis were sonographically assessed among participants of the population-based Study of Health in Pomerania (SHIP).

SHIP

carotid atherosclerosis


Input: Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies.

ARP

parkinsonism


Input: CFH and FHL-1 may act in concert in the eye and the reduced surface binding may result in inappropriate local complement control, which in turn can lead to inflammation, disturbance of local physiological homeostasis and progression to cell damage.

CFH

inflammation


Input: Using endothelial progenitor cells (EPC) from healthy donors and HUVEC endothelial cells, the extent of EPC recruitment and capacity to form endothelial tubes was significantly impaired in conditioned media derived from MSC/glioma coculture, suggesting that MSC suppressed tumor angiogenesis through the release of antiangiogenic factors.

MSC

tumor angiogenesis


Input: Induction in the lung of TGF-alpha caused progressive pulmonary fibrosis over an 8-wk period.

TGF-alpha

pulmonary fibrosis

TGF-alpha

pulmonary fibrosis


Input: Specifically, hypoxia induced the most robust increase in progenitor-like characteristics in U-CH1 cells, including increased expression of the notochord-associated markers T, CD24, FOXA1, ACAN and CA12, increased cell growth and tumour-sphere formation, and a decrease in the percentage of vacuolated cells present in the heterogeneous population.

hypoxia


Input: To test the a priori hypothesis that the frequency of a single-nucleotide polymorphism (SNP) located in the promoter region of the glutamate decarboxylase 2 (GAD2) gene (-243A--> G) would be overrepresented among children with higher body mass index (BMI) values.

body mass index


Input: The frequency of GM-CSF-producing T helper cells was significantly enriched in SF mononuclear cells compared to PB mononuclear cells from the patients with JIA (24. 1% of CD4 + T cells versus 2. 9%) and closely correlated with the erythrocyte sedimentation rate (r (2) = 0. 91, P < 0. 001).

erythrocyte sedimentation rate


Input: The 3'-UTR contains a polymorphic AGG repeat that appears not to be expanded in patients suffering from different neurodegenerative disorders.

UTR

neurodegenerative disorders


Input: These findings support a role for hypoxia and oestrogen induced VEGF-D in human breast cancer and also suggest that tamoxifen and related oestrogen antagonists may exert some of their antitumour effects through the abrogation of VEGF-D induced function.

VEGF-D

hypoxia


Input: XLSA is due to mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.

XLSA

XLSA


Input: Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour.

depression

depression


Input: Applying the statistical GISTIC (Genomic Identification of Significant Targets in Cancer) tool we identified potential novel candidate tumor suppressor-(DBC1, FHIT, PPP2R2A) and oncogenes (LYN, FGF19, GRB7, PTPN1) within these regions of chromosomal instability.

chromosomal instability


Input: Chemical hypoxia facilitates alternative splicing of EAAT2 in presymptomatic APP23 transgenic mice.

hypoxia


Input: In human aorta, PTOV1 immunoreactivity in the nuclei of neointimal VSMCs was abundantly detected in male aorta with mild atherosclerotic changes compared with female aorta or male aorta with severe atherosclerotic changes.

mild


Input: We report a novel heterozygous 3 bp deletion mutation (388del3) in K16 in a sporadic case of PC-1.

sporadic


Input: Results were validated by means of Southern blot hybridization (detection of N-myc amplification), loss of heterozygosity (LOH) studies (detection of deletion 1p), and interphase cytogenetics [dual labelling fluorescence in situ hybridization (FISH) of centromeric 17 and erbB-2].

FISH

deletion 1p


Input: Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1.

GNAS

POH

GNAS

POH


Input: To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects.

schizophrenia

schizophrenia


Input: Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.

congenital heart defect

congenital heart defect


Input: No aberrant methylation of Dapk1 or Mlt1 was detected in the neoplasms, but normal colon mucosa samples displayed methylation of these genes.

neoplasms


Input: Our findings are consistent with an involvement of E-selectin, " in vivo, " in the pathogenesis of SAO shock.

E-selectin

shock


Input: A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

serrated polyposis

serrated polyposis


Input: Sections stained for CD8, MHC-I, beta (2) m, HFE and CD68 were analyzed blind by morphometry.

blind


Input: Several candidate genes for schizophrenia may also be associated with bipolar disorder: G72, DISC1, NRG1, RGS4, NCAM1, DAO, GRM3, GRM4, GRIN2B, MLC1, SYNGR1, and SLC12A6.

bipolar disorder

bipolar disorder


Input: Mutations of the cyclin-dependent kinase inhibitor genes also occur in esophageal and gastric cancers.

cyclin-dependent kinase inhibitor

esophageal


Input: VEGF mRNA is controlled by growth factors and hypoxia via the transcription factor hypoxia-inducible factor (HIF-1alpha).

VEGF

hypoxia


Input: The TNF-alpha-producing potential of ascites cells by in vitro OK-432 stimulation was dependent on the existence of a CD11c + TLR-4 + cell population in ascites cells.

ascites


Input: In addition, several of the ZNFs mapped to regions implicated in recurrent chromosomal rearrangements in hematological malignancies (ZNF139, 7q21. 3-q22. 1; ZNF148, 3q21-q22; ZNF151, 1p36. 1-p36. 2).

hematological malignancies


Input: There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4).


Input: Moreover, multifactor dimensionality reduction showed significant epistatic interactions for the postprandial decrease in hunger involving rs9939609 (FTO), rs992472 (DNMT3B), and rs1137101 (LEPR).

LEPR

hunger


Input: As the CSF1 translocation is postulated to play an important role in the biology of PVNS/TGCT, the consistent presence of CSF1 expression in translocation-negative cases implies that other mechanisms can lead to CSF1 up-regulation.

translocation


Input: Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.

autism

autism


Input: DNA cytometry revealed that nuclei-overexpressing securin frequently showed tetraploidy or aneuploidy.

securin

aneuploidy


Input: Seventy patients having non-syndromic forms of colobomatous microphthalmia (n = 25), isolated microphthalmia (n = 18), or anophthalmia (n = 17), and syndromic forms of micro/anophthalmia (n = 10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations.

RAX

colobomatous microphthalmia


Input: TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: To assess if MIF alleles influence the clinical course of infection, we conducted a case-control study to assess susceptibility and a parallel inception cohort study of community-acquired pneumonia (CAP) to assess risk of severe sepsis and 90-d mortality.

MIF

severe sepsis


Input: The Sialyl-Tn antigen (Neu5Acα2-6GalNAc-O-Ser/Thr) synthesized by Siat7A also increased in the AC16 cardiomyocytes following hypoxic stimulus.

hypoxic


Input: Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses.

HPA

major depression

HPA

major depression


Input: We observed stronger association between CD105-MVD and VEGF expression, fibrosis, and JAK2-V617F mutant allele burden, compared to CD34-MVD.

fibrosis


Input: Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D, L-2-Hydroxyglutaric Aciduria.

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Aciduria


Input: The most common translocation in non-Hodgkin lymphomas (NHL) is a t (14; 18) (q32; q21) recombining the immunoglobulin heavy-chain gene (IGH) on chromosome 14 with the B cell leukemia/lymphoma 2 (BCL2) gene on chromosome 18.

translocation


Input: The significant and complex effects of co-occurring ERAP1 polymorphisms on multiple HLA-B27 ligands, and their potential to alter the immunological and pathogenetic features of HLA-B27 as a function of the ERAP1 context, explain the epistatic association of both molecules in ankylosing spondylitis.

spondylitis


Input: The region including the GSDMA and GSDMB polymorphisms may be associated with asthma susceptibility and intermediate phenotypes of asthma, such as elevated IgE and BHR, in Korean children with asthma.

GSDMB

asthma susceptibility


Input: We observed positive Kv10. 1 expression in 85. 3% of the brain metastases and in 77. 5% of GBMs.

Kv10. 1

brain metastases


Input: Receptor tyrosine kinase inhibitors and cytotoxic drugs affect pleural mesothelioma cell proliferation: insight into EGFR and ERK1/2 as antitumor targets.

EGFR

mesothelioma

EGFR

mesothelioma


Input: Sensitization of human renal cell carcinoma cells to cis-diamminedichloroplatinum (II) by anti-interleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody.

interleukin 6 receptor

renal cell carcinoma

interleukin 6 receptor

renal cell carcinoma


Input: Similarly, mutations in the BTB/POZ domain disrupt the high-molecular-weight complex, abolishing the leukemic potential of PLZF/RARα.

PLZF

weight


Input: To examine whether genetic variation of the GPR10 locus might be associated with phenotypes relevant to obesity and/or blood pressure, the most common noncoding (G-62A) and coding (C914T [P305L]) polymorphisms were typed in 1, 084 U. K. Caucasians.

blood pressure


Input: A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


Input: Most birth weight--risk factor relationships were stronger in the VC subjects; among others the birth weight--systolic blood pressure relationship: 1 kg lower birth weight was related to an 8. 0 mmHg higher systolic blood pressure The polymorphism in the promoter region of the IGF-I gene is related to birth weight in men only, and to LDL concentration only.

IGF-I

birth weight


Input: Bioinformatic analysis coupled miR-210 to hypoxia/VEGF signaling, miR-7 and miR-516-3p to cell cycle progression and chromosomal instability, and miR-128a to cytokine signaling.

hypoxia


Input: Paracrine modulation of CXCR4 by IGF-1 and VEGF: implications for choroidal neovascularization.

choroidal neovascularization


Input: In this study were aimed to identify the association of SNPs candidate genes of TNF-α and IL-6 with hormones levels and sperm cells death in infertile subjects of Uttar Pradesh population in North India.

infertile


Input: Overexpression of MAT1 was observed in 87. 5% (6/7) of lymph nodes with metastasis but only 23% (3/13) of lymph nodes without metastasis (P = 0. 0118).

metastasis


Input: We enrolled 184 hepatitis C-infected patients with chronic liver diseases or HCC, 57 healthy subjects and 27 HCC patients with other etiology.

HCC

liver diseases


Input: The role of p63 in tumorigenesis remains poorly defined.

tumorigenesis


Input: In diabetic patients, GIP is expected to have a direct anti-inflammatory effect on periodontitis in addition to its glucose-lowering effect.

GIP

periodontitis


Input: The septohippocampal cholinergic system has been pointed out as a possible site of SCP and DZP-induced amnesia as well as for the mnemonic effects induced by SP and ChCl.

SP

amnesia

SP

amnesia


Input: Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

spondylocostal dysostosis

spondylocostal dysostosis


Input: In conclusion, thyroid hormone improves and accelerates peripheral nerve regeneration and exerts a positive effect on cytoskeletal protein expression and transport involved in axonal regeneration.

cytoskeletal protein

axonal regeneration


Input: In the deep cortical layers of BA 46, Nurr1 mRNA was significantly (P & lt; 0. 05) lower in patients with bipolar disorder and schizophrenia than in the controls.

BA 46

bipolar disorder

BA 46

bipolar disorder


Input: Moreover, the proliferating cell nuclear antigen mRNA level might be predictive of nodal regression.

proliferating cell nuclear antigen

regression


Input: siRNA targeted for NBS1 enhances heat sensitivity in human anaplastic thyroid carcinoma cells.

anaplastic thyroid carcinoma


Input: In summary, our data indicate that the transcription factor FoxP1 is essential for the angiogenic function of endothelial cells and functions as a suppressor of the inhibitory guidance cue semaphorin 5B, suggesting an important function of FoxP1 in the regulation of neovascularization.

semaphorin 5B

neovascularization


Input: From molecular and biological analyses, we found microsatellite instability in 30. 8% of endometrial cancers and germline mutations of MMR genes in 8. 3%.

MMR

microsatellite instability


Input: Since CEA content and mRNA expression were no different between smokers with non-small cell lung cancer and those with non-carcinomatous disease, it is unlikely that CEA expression in non-carcinomatous lung parenchymal tissue was influenced by the presence of the tumour and is consistent with the effect of smoking.

CEA

smoking


Input: Conversely, inhibiting sphingosine lyase rescues the defects in keratinocyte differentiation, E-cadherin localization, desmoplakin (DP) translocation, and ER Ca (2 +) sequestration seen in TG-treated keratinocytes.

E-cadherin

translocation


Input: CD4 (+) T cells that lead to autoimmune gastritis (AIG) in BALB/c mice are either Th1 or Th2 cells.

autoimmune gastritis


Input: This polymorphism was investigated in two types of studies: (1) the association study in a whole group of alcoholics (116 patients fulfilling ICD-10 alcohol dependence (AD) criteria and 255 controls, Polish descent) and homogenous overlapping subgroups of patients with: a history of delirium tremens and/or alcohol seizures, early age of onset of alcoholism (AOO < 26 years), a co-occurrence of dissocial personality disorder, a history of familial alcoholism; (2) the family-based study (using Transmission Disequilibrium Test (TDT) in 100 Polish families with alcohol dependence).

TDT

dissocial personality disorder


Input: Since both Ang-1/Tie2 and VEGF promote angiogenesis and vascular survival, and play protective roles in the adaptation of microvascular changes during the onset of PH, the downregulation of both Ang-1/Tie2 and VEGF and upregulation of Ang-3 appear to be associated with vascular rarefaction and the development of hypoxic PH.

VEGF

hypoxic


Input: Immunoprecipitation assays confirmed biochemical binding of Ndfip1 with Nedd4-2 in the brain, with or without ischemic stroke, indicating their endogenous interaction.

ischemic stroke


Input: HS1, 2-A allele frequencies were investigated in 37 DH, 61 plaque psoriatic, 28 psoriatic arthritis patients, and 265 healthy donors, age-and sex-matched, from the same geographical area.

psoriatic arthritis


Input: Common genetic polymorphisms in the drug target (norepinephrine transporter protein 1, SLC6A2) and mechanism pathway (NMDA receptor channel NR1 subunit, GRIN1) were associated with increased weight loss following GW320659 treatment in a proportion (36%) of the study population.

increased weight


Input: CAD is associated with reduced vascular responses to both VEGF and HGF; this is not likely due to a reduced expression of VEGF or flt-1 or flk-1 receptors and not due to a generalized endothelium dysfunction despite the presence of mild hypercholesterolemia in these patients with CAD.

HGF

hypercholesterolemia


Input: In males, GGN repeats, considered independently of the CAG repeat, have no significant effect on the acne risk; however, when combined with CAG repeats, the acne patients exhibited significantly higher frequency of the haplotypes CAG < 23/GGN < or = 23 (OR, 3. 33; 95% CI, 1. 10-10. 07; P < 0. 05) compared with the controls.

GGN

acne


Input: Mitochondrial activation by TFAM, NRF-1, and myr-AKT abrogated MPP (+)-mediated damages on mitochondria and insulin signaling, leading to recovery of nigrostriatal neurodegeneration.

NRF

neurodegeneration


Input: An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21. 2 (FTDP-17) was defined in 1996.

frontotemporal dementia

frontotemporal dementia


Input: Preoperative levels of CA125, PLT, CRP, and fibrinogen were dichotomized according to the common cutoff values (CA125, 35 U/ml; PLT, 350/nl; CRP, 5. 0 mg/l; fibrinogen, 400 mg/dl), resulting in " 1 " for results above the cutoff and " 0 " for results within the normal ranges.

fibrinogen


Input: A case-control study of idiopathic osteonecrosis of femoral head (ION) was carried out to investigate the association between workload intensity, smoking, drinking, ADH2 and ALDH2 genotype and other factors and development of ION by comparing 43 cases (34 males and 9 females) without history of systemic corticosteroid use with 86 matched controls (68 males and 18 females).

smoking


Input: Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

PLP

Pelizaeus-Merzbacher disease

PLP

Pelizaeus-Merzbacher disease


Input: Since 30. 6% (11/36) of Taiwanese moyamoya patients carry an RNF213 mutation and intracranial arterial stenosis was found in half of the asymptomatic mutant carriers, it is suggested that the RNF213 mutation should form part of the diagnostic workup for MMD in clinical practice.

asymptomatic


Input: Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform.

ERG

abnormalities


Input: Although a direct association was not observed between HSP70-2 polymorphism and prevalence of intestinal metaplasia, a significant association was found between the BB genotype and lower metaplasia score in individuals who were Helicobacter pylori (H. pylori) positive and aged 60 years or older (BB vs. A carriers; 0. 84 +/-0. 95 vs. 1. 23 +/-1. 01, p = 0. 0197).

metaplasia


Input: This article will focus on BMPs' effects on bone anabolism and propose a potential network of the bone mass mediators BMPs, PTH, and SOST.

PTH

bone mass


Input: Following tumor cell inoculation via the left cardiac ventricle, Gli2-expressing tumors caused significantly more osteolysis.

osteolysis


Input: To quantify and functionally characterize the intramyocardial T-cells in endomyocardial biopsies (EMBs) from patients presenting with acute myocarditis (AMC) and dilated cardiomyopathy (DCM).

AMC

acute myocarditis


Input: alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

lysosomal alpha-mannosidase

alpha-Mannosidosis

lysosomal alpha-mannosidase

alpha-Mannosidosis


Input: Using immunoselection, we have isolated 11 independent mutant HT1080 fibrosarcoma cell lines defective in the induction by interferon gamma (IFN-gamma) of the expression of the human leukocyte antigen HLA-DRA.

HLA-DRA

fibrosarcoma


Input: The present case control study suggests no association of GSTM1 and GSTT1 gene deletions with sporadic form of breast cancer in Pakistani population.

sporadic


Input: Hematological indices, inflammatory markers and neutrophil CD64 expression: comparative trends during experimental human endotoxemia.

endotoxemia


Input: Using this system, we found a new mutation of the PrP gene in a patient with pathologically confirmed Creutzfeldt-Jakob disease and a negative family history for dementia.

PrP

Creutzfeldt-Jakob disease

PrP

Creutzfeldt-Jakob disease


Input: Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2.

apolipoprotein E receptor 2

Neurodegeneration

apolipoprotein E receptor 2

Neurodegeneration


Input: Collectively, our findings reveal that TRPM7 dysfunction may cause macrothrombocytopenia in humans and mice.

macrothrombocytopenia

macrothrombocytopenia


Input: Two synonymous SNPs, one in the FTO gene (-28T > C in the 5'-flanking region) and one in the INSIG2 (10175C > T in intron 2), were used for the association studies in red foxes (n = 390) and suggestive evidence was observed for their association with body weight (FTO, p < 0. 08) and weight of raw skin (INSIG2, p < 0. 05).

weight


Input: We previously reported that high expression levels of the channel-kinase TRPM7, a protein that maintains the progenitor state of embryonic neural crest cells, are closely associated with progenitor-like features of tumor cells, accompanied by extensive cytoskeletal reorganization and adhesion remodeling.

adhesion


Input: Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

desmoglein 1

striate palmoplantar keratoderma

desmoglein 1

striate palmoplantar keratoderma


Input: To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD).

abnormalities


Input: Inherited change in SOD3 expression or function could affect lung matrix homeostasis and influence pulmonary function.

pulmonary function


Input: Compared with control subjects, cells from patients with COPD demonstrated increased mRNA expression of genes involved in oxidative stress and the response to viral infection, including NOX1, DUOXA2, MMP12, ICAM1, DDX58/RIG-I, STAT1, and STAT2.

viral infection


Input: Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

HMGCL

3-hydroxy-3-methyl-glutaric aciduria

HMGCL

3-hydroxy-3-methyl-glutaric aciduria


Input: Intriguingly, pancreatic cancer cell lines expressed the potential CCL18 receptors PITPNM3, CCR6 and GPR3.

pancreatic cancer


Input: Clinical variables associated with ecotropic viral integration site 1 (EVI1) translocations were evaluated in 42 consecutive chronic myeloid leukemia (CML) patients in myeloid blast crisis (MBC).

viral integration site 1

blast crisis


Input: However, a 140-kD thermolysin TSP fragment, containing the carboxy-terminal cell-binding domain in addition to the type 1, 2, and 3 repeats fully supported the adhesion of SS-RBCs (126% +/-25% adhesion).

TSP

adhesion


Input: The extracellular BDNF scavenger TrkB-Fc prevented dendritic overgrowth in wt MECP2-overexpressing neurons, while overexpression of the Bdnf gene reverted the dendritic atrophy caused by Mecp2-knockdown.

atrophy


Input: MVs contributed to genomic instability by two distinct pathways: via consequent overexpression of activation-induced cytidine deaminase and reactive oxygen species, which mediated DNA breakage and recombination; and via upregulation of methyltransferases and global DNA hypermethylation.

activation-induced cytidine deaminase

genomic instability


Input: We previously demonstrated that angiopoietin-like protein 2 (Angptl2), a pro-inflammatory factor secreted by adipose tissue, promotes adipose tissue inflammation and subsequent systemic insulin resistance in obesity.

inflammation


Input: We also examined the effect of Fgf21 gene deletion or supplementation of the exogenous FGF21 on the testicular apoptotic cell death spontaneously or induced by type 1 diabetes in FGF21 knockout (FGF21-KO) mice.

type 1 diabetes

type 1 diabetes


Input: Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).

alcohol use disorders

alcohol use disorders


Input: These findings suggest that (i) MICB expression is related to temporary skin inflammation, and (ii) expression of MICB is not directly associated with BD.

MICB

skin inflammation


Input: The mRNA expression levels of acyl-CoA oxidase (AOX), a key enzyme in very-long-chain fatty acid peroxisomal oxidation, and of peroxisome proliferator-activated receptor-delta (PPAR-delta), a nuclear receptor possibly involved in the gene regulation of brain lipid metabolism, were determined in human Y79 retinoblastoma cells by using real-time quantitative polymerase chain reaction.

acyl-CoA oxidase

retinoblastoma


Input: Nine cases of appendiceal carcinoid and 11 biopsies of carcinoid of other parts of the gastrointestinal tract, five cases of the small intestine and six of the stomach were immunohistochemically evaluated for Ki67, p53, DCC, E-cadherin and beta-catenin.

DCC

carcinoid


Input: These findings demonstrate that enhanced JNK activation is frequently found in primary brain tumors and that this activation contributes to phenotypes related to transformation.

JNK

primary brain tumors


Input: In PHC-treated groups, the administered PHC had a significant protective effect on the lung dysfunction induced by sepsis.

PHC

sepsis


Input: We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A2 (HbA2) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of α-thalassemia carriers.

MCH

mean corpuscular volume


Input: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

Wilson disease

Wilson disease


Input: In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.

alcohol dependence

alcohol dependence


Input: These data provide a novel link between Hsp10/Hsp60 and cardiac protection in doxorubicin cardiomyopathy.

cardiomyopathy

cardiomyopathy


Input: In contrast, TERT knockout mice exhibited deficient fibrosis that was independent of telomere length.

TERT

fibrosis


Input: DEC1 expression showed no topographical association with necrosis or expression of HIF-1alpha, CA9, or VEGF.

VEGF

necrosis


Input: The findings of the present investigation suggest that measurement of PRL serum levels in MOT-test could be of value in early diagnosis of Sheehan syndrome.

PRL

Sheehan syndrome

PRL

Sheehan syndrome


Input: Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis.

spondylitis


Input: These findings increase our understanding of the interaction between therapeutic agents and the skin and suggest a functional role for CYP2S1 in the metabolism of topical drugs and in mediating the response to photochemotherapy in psoriasis.

psoriasis

psoriasis


Input: In conclusion, PLD1 and PLD2 expressions were strongly enhanced both in rat and human heart hypertrophy, which may be responsible for the coincident potentiation of the PLD activation by alpha-adrenoceptor and protein kinase C stimulation.

heart hypertrophy

heart hypertrophy


Input: The MLIV-causing mutations disrupt the luminal-domain structure and cause TRPML1 mislocalization.

MLIV

MLIV


Input: These findings suggest that level of residual moisture of lyophilized fibrinogen with B19 spike correlated with a different resistance of B19 to dry-heat treatment, and that low moisture may stabilize virus against heat.

fibrinogen


Input: In addition, logistic regression showed that the most optimal model for predicting an unbalanced chromosomal translocation is a combination of PAPP-A and nuchal translucency with an AUC of 0. 980.

PAPP-A

chromosomal translocation


Input: Recent transgenic mouse studies have revealed a high degree of toxicity due to transactive response DNA-binding protein 43 proteins when overexpressed under the control of strong neuronal gene promoters, resulting in early paralysis and death, but without the presence of amyotrophic lateral sclerosis-like ubiquitinated transactive response DNA-binding protein 43-positive inclusions.

DNA-binding protein

amyotrophic lateral sclerosis


Input: We described trisomy 8 mosaicism in a 6-month-old boy with left corneal leukoma, strabismus, posterior urethral valve, tibial bowing and congenital pseudarthrosis of the tibia (CPT) on graphic of left tibia.

CPT

posterior urethral valve


Input: In the adenocarcinoma metastases to bone obtained from 8 patients, deletions in exon 19 of the EGFR gene were revealed in 3 smoking men and one non-smoking woman, while L858R substitution in exon 21 was found in one smoking woman and one man of unknown smoking status.

EGFR gene

smoking


Input: FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis.

FUS

sporadic


Input: Another subject with mild hypocholesterolemia (triacylglycerols = 209 mg/dl, cholesterol = 120 mg/dl) was found to have additional major and minor basic apolipoprotein A-IV isoforms.

apolipoprotein A-IV

mild


Input: Adult rescued mice produce hemoglobin at levels similar to wild-type mice, with partial red cell complementation based on mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and red cell distribution width (RDW) measurements.

MCH

mean corpuscular volume


Input: The nonmuscle myosin heavy chain 9 gene (MYH9) is associated with a spectrum of kidney diseases in African Americans, including idiopathic focal global glomerulosclerosis historically attributed to hypertension, idiopathic focal segmental glomerulosclerosis, and the collapsing variant of focal segmental glomerulosclerosis [HIV-associated nephropathy (HIVAN)].

heavy chain

focal segmental glomerulosclerosis


Input: Sixty-seven patients with stroke were selected according to the cerebral infarction diagnosis standard of the Fourth National Cerebrovascular Disease Conference and divided into a PSD group (28 patients, 43-76 years old) or a control stroke group (39 patients, 43-78 years old) using the Hamilton Rating Scale for Depression, and compared to 40 healthy volunteers (42-78 years old).

PSD

stroke


Input: Although very speculative, we hypothesize that increased GBA expression might relate to placentation through decreased BMP4 signaling or vascularization through downregulation of TFEB.

vascularization


Input: Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients.

thrombopoietin receptor

CAMT

thrombopoietin receptor

CAMT


Input: We identified two of nine Brazilian CCD families carrying two mutations in the RYR1 gene.

CCD

CCD


Input: The mildly affected heterozygotes had normal results on ocular examination but decreased rod sensitivities at most loci across the visual field, abnormalities in rod-isolated ERG a-and b-waves, and reduced rhodopsin levels.

ERG

abnormalities


Input: Interestingly, cases with the-308A allele of the TNF-alpha gene have significantly higher hip and waist circumferences (p < 0. 05), BMI (p < 0. 01) and body fat mass (p < 0. 05) values than obese individuals carrying the-308G allele, but not the waist-to-hip ratio.

TNF-alpha

waist-to-hip ratio


Input: In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 patients with ocular hypertension, and 2 patients who were asymptomatic.

OPTN

asymptomatic


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

epidermal growth factor receptor

adhesion