Input: Evidence has been provided which indicates that IAPP can inhibit glucose-stimulated insulin secretion by beta cells, and that IAPP can also potentially contribute to the pathogenesis of type 2 diabetes by increasing hepatic glucose output and by inducing peripheral insulin resistance.

IAPP

insulin resistance


Input: In H2R KO mice, the infarct size was smaller; myocardial p-ERK1/2, p-DAPK2, and mitochondrial Bax were downregulated.

infarct


Input: In all cases analyzed, breakpoints on chromosome 18 clustered at the 5' flanking region of the bcl-2 gene, and no rearrangements were found at the major or minor breakpoint clustering region (3' region of bcl-2 gene) typical of the t (14; 18) chromosome translocation.

bcl-2 gene

chromosome translocation


Input: This is in contrast to the common autophagy inducer (i. e., starvation) that increases LC3B-II but reduces LC3B-I.

starvation


Input: The aim of this study was to examine whether thymic stromal lymphopoietin (TSLP), an epithelial-cell-derived cytokine inducing a dendritic cell (DC)-mediated inflammatory Th2 response, is involved in Th2 responses triggering B-cell activation in H. pylori-induced gastritis.

B-cell activation

gastritis


Input: The vimentin gene is abundantly expressed in both human and mouse mammary tumor cells and its expression decreased dramatically in normal mammary epithelial cells.

vimentin gene

mammary tumor


Input: In PTEN mutant cells, PARP inhibition induced a severe genomic instability, exacerbated homologous recombination repair (HR) deficiency and down-regulated the Spindle Assembly Checkpoint (SAC) factor BUBR1, leading to mitotic catastrophe (MC).

genomic instability


Input: Interphasic FISH using centromeric probe of chromosome 20 detects the presence of a chromosome 20 monosomy in 7% and a duplicated ring chromosome 20 in 8% of studied cells.

FISH

ring chromosome 20


Input: Genetically engineered hMSC S-TRAIL cells were effective in inhibiting intracranial U87 glioma tumor growth (81. 6%) in vivo and resulted in significantly longer animal survival.

glioma


Input: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

warburg micro syndrome

warburg micro syndrome


Input: The moxibustion therapies (HPM and MWM) could reduce intestinal inflammation and restore intestinal epithelium barrier disruption in CD, which might be due to down-regulating TNF-α, TNFR1, and TNFR2 in intestinal mucosa and improving intestinal epithelium morphology.

inflammation


Input: These polyploid tumour cells resist apoptosis, overcome cellular senescence and undergo bi-and multi-polar divisions transmitting the up-regulated OCT4, NANOG and SOX2 self-renewal cassette to their descendents.

polyploid


Input: This report is the first to relate p. R198W mutation in GJA8 with CCMC.

CCMC

CCMC


Input: Variables included in the study were dopaminergic genes (ANKK1 TaqI A, DRD2 C957T, DRD4 7R, COMT Val/Met substitution, and SLC6A3 9R) and a GABAergic gene (GABRB3), all combinations of genes, a count of the number of hypodopaminergic genotypes, personality traits, neurocognitive factors, depressive symptoms, and environmental factors.

COMT

personality traits


Input: Administration of IFN-gamma to C57BL/6 mice decreased Tax (+) tumor growth and prevented tumor-associated bone loss and hypercalcemia.

IFN

hypercalcemia


Input: This revealed that the juxtaposition of the bcl-2 and Ig lambda genes is a result of a reciprocal chromosome translocation between chromosomes 18 and 22 with deletions of 2 and 15 bp, respectively.

chromosome translocation


Input: Seven miRNAs of hsa-miR-21, hsa-miR-31, hsa-miR-34a, hsa-miR-22 *, hsa-miR-504, hsa-miR-18a, and hsa-miR-412 were observed to be upregulated greater than twofold in the squamous cell lung carcinoma tissues compared with normal tissues, whereas 23 miRNAs of hsa-miR-30a, hsa-miR-30d, hsa-miR-126, hsa-miR-652, hsa-miR-100, hsa-miR-143, hsa-miR-130a, hsa-miR-145, hsa-miR-30e, hsa-miR-126 *, hsa-miR-181a, hsa-miR-125b, hsa-miR-886-3p, hsa-miR-451, hsa-miR-29c, hsa-miR-26b, hsa-miR-101, hsa-miR-320, hsa-miR-30b, hsa-miR-886-5p, hsa-miR-29a, hsa-miR-26a, and hsa-miR-99a were found to be downregulated greater than twofold.

squamous cell lung carcinoma


Input: We assessed whether the reduced folate carrier [NM_194255. 1: c. 80A--> G (i. e., p. His27Arg)] (RFC-1) polymorphism was associated with placental abruption, and evaluated if maternal smoking modified the association between plasma folate and abruption.

RFC

placental abruption


Input: ApoE (-/-) mice (18 months, regular chow) were transfected with PON1 adenovirus (AdPON1, n = 10) or control adenovirus (AdRR5, n = 10).

adenovirus


Input: Our aim was to evaluate associations with albuminuria of six GLUT1 single nucleotide polymorphisms (SNPs), particularly XbaI and the previously associated Enhancer-2 (Enh2) SNP.

albuminuria


Input: The homozygous knockout mouse for the beta3 subunit of the GABAA receptor has been proposed as a model for the neurodevelopmental disorder, Angelman syndrome, based on phenotypic similarities of craniofacial abnormalities, cognitive defects, hyperactivity, motor incoordination, disturbed rest-activity cycles, and epilepsy.

hyperactivity, motor


Input: E-cadherin expression is silenced by 5' CpG island methylation in acute leukemia.

E-cadherin

acute leukemia


Input: The TLX1 oncogene drives aneuploidy in T cell transformation.

aneuploidy

aneuploidy


Input: An adenovirus encoding the complete Mfn2 open reading frame (Ad-Mfn2) exhibited a prominent anti-proliferative effect in the CRC cell lines HCT 116, HT-29, and SW480.

adenovirus


Input: The three loci (NOS1 C5266T, TGF-beta1 L10P and TGF-beta1 R25P) have little contribution to the development of childhood asthma in Chinese Han Nationality.

childhood asthma


Input: 5-HT (7) receptors are involved in REM sleep and possibly in mood disorders.

5-HT (7

mood disorders

5-HT (7

mood disorders


Input: The human glioma cell line U87 was transfected with recombinant lentivirus encoding the hNIS gene under the control of cytomegalovirus promoter (U87-hNIS).

glioma


Input: Novel MSH2 Mutation in the First Report of a Vietnamese-American Kindred with Lynch Syndrome.

Lynch Syndrome

Lynch Syndrome


Input: Here, we investigated for the first time, the effect of some treatment schedules (i. e. early chronic, sub-chronic and acute) with the specific mTOR inhibitor rapamycin, on the development of absence seizures and seizure parameters as well as depressive-like behavior in WAG/Rij rats, a genetic model of absence epilepsy, epileptogenesis and mild-depression comorbidity.

mTOR

mild-depression

mTOR

mild-depression


Input: We conclude that the ACE gene D allele polymorphism is a potent risk factor for developing microalbuminuria in type 2 diabetic patients.

ACE gene

microalbuminuria


Input: The objectives of the study were to analyze the involvement of the SHH pathway in human adrenal development and tumorigenesis and the effects of SHH inhibition on an adrenocortical tumor (ACT) cell line.

SHH

tumorigenesis


Input: Chemokine MCP-3, MIP-1alpha, RANTES mRNA were expressed by the 1st, 2nd and 3rd trimester placental samples and the three choriocarcinoma cell lines examined.

choriocarcinoma


Input: The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB (collagen type I alpha I-platelet-derived growth factor beta), which is amplified at low levels in the ring chromosome.

chromosomal translocation


Input: Humans with congenital FXI deficiency have a variable propensity to bleed after trauma or surgery, but do not experience the " spontaneous " hemorrhage in joints and soft tissue characteristic of hemophilia (FVIII or FIX deficiency).

FXI

hemorrhage


Input: Repeated administration of TRH for 7 days at doses of 0. 2-5 mg/kg s. c. elicited a dose-dependent recovery from amnesia induced by scopolamine, whereas only the group treated with 5 mg/kg/day showed a significant improvement.

TRH

amnesia

TRH

amnesia


Input: We investigated the transcriptional pattern of these sequences to determine whether and to what extent their expression is altered in colon tumors and colon cancer cell lines as compared to normal colon mucosa (NCM).

NCM

colon cancer


Input: Additional study of the therapeutic benefit of targeting bcl-xl gene expression in mesothelioma is warranted.

bcl-xl

mesothelioma


Input: Recent study demonstrated the important contribution of SOX2 to tumorigenesis and metastasis properties of various types of cancers and strongly supported the concept that SOX2 can be used as an effective marker for diagnosis and predicting prognosis of cancer patients.

tumorigenesis


Input: The close links of ORM and measures of adiposity, insulin resistance, and adipose tissue inflammation in humans reinforce previous experimental data and warrant further studies to explore a possible role of ORM in the pathogenesis of obesity-associated metabolic derangements.

ORM

insulin resistance


Input: Stimulation by S. aureus was relatively weak when compared (i) with stimulation of the same cells by HKLM and PAMPs derived from S. aureus, (ii) with a clone stably transfected with TLR4 and MD-2 and stimulated by E. coli causing mastitis, and (iii) with interferon-gamma-costimulated bovine macrophages stimulated by S. aureus and S. agalactiae.

mastitis


Input: Hypoxia inducible factor (HIF)-1 plays an important role in cellular adaptation to hypoxia by activating oxygen-regulated genes such as vascular endothelial growth factor (VEGF) and erythropoietin.

VEGF

hypoxia


Input: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies.

BOR

branchial cysts


Input: However, the biochemical pathways regulating IL-17A combined with hypoxia are not well defined.

hypoxia


Input: Intraductal papillary neoplasia of the liver (IPNL) frequently presents gastrointestinal metaplasia with aberrant expression of MUC2 and MUC5AC and oversecretion of mucin into the ductal lumen.

metaplasia


Input: These observations for the first time directly connect constitutive hypoxia with VEGF upregulation in scleroderma patients.

VEGF

hypoxia


Input: Stepwise multivariable regression was performed to develop predictive models for PDI and MDI scores.

PDI

regression


Input: By using MLN4924, a small molecule inhibitor of NEDD8-Activating Enzyme (NAE), that inactivates SAG-SCF E3 ligase by blocking cullin neddylation, we were able to sensitize two otherwise resistant leukemia cell lines, HL-60 and KG-1 to RA.

SCF

leukemia


Input: The immunostaining results show over-to moderate expression of cortactin in 85% (104/122) of oral squamous cell carcinoma (OSCC) tissues and in all 15 leukoplakia tissues examined.

cortactin

leukoplakia

cortactin

leukoplakia


Input: Here, we report that intrathecal injection of an siRNA against the transient receptor potential vanilloid receptor 1 (TRPV1) reduced cold allodynia of mononeuropathic rats by more than 50% over a time period of approximately 5 days.

cold


Input: However, succinate dehydrogenase mutations (germline and somatic) and functional dedifferentiation do not adequately explain (18) F-FDG uptake since most tumors were highly avid for (18) F-FDG.

FDG

dedifferentiation


Input: RGS2, one of the RGS families, has been suggested to plays a role in anxiety and/or aggressive behavior.

aggressive behavior


Input: Thus, the role of SH2B1 in both obesity and insulin resistance makes it a strong candidate for T2D.

insulin resistance


Input: To evaluate the contribution of these mutations to the genesis of sporadic medulloblastomas, we screened a series of unselected patients with medulloblastoma for germline SUFU mutations.

SUFU

sporadic


Input: Tumorigenic mechanisms for PTTG1 action involve cell transformation and aneuploidy, apoptosis, and tumorigenic microenvironment feedback.

aneuploidy


Input: Interleukin-18 (IL-18) is a Th1 cytokine, which is postulated to play a role in systemic lupus erythematosus (SLE).

systemic lupus erythematosus


Input: We tested the hypothesis that a variation in DAAO genotype would be associated with altered prefrontal function and altered functional connectivity in schizophrenia and bipolar disorder.

DAAO

bipolar disorder

DAAO

bipolar disorder


Input: The prevalence of ATM [i. e., myocardial infarction, angina pectoris with intervention, deep vein thrombosis/pulmonary embolism (DVT/PE), and/or stroke/transient ischemic attack (TIA)] was recorded.

ATM

transient ischemic attack


Input: MRI evaluation of the pituitary indicated pituitary aplasia in all subjects.

MRI

aplasia


Input: Genetic analysis of 8; 21 chromosomal translocation without AML1 gene involvement in MDS-AML.

chromosomal translocation


Input: Overexpression of SENP2 resulted in premature death of mice with CHDs-atrial septal defects (ASDs) and/or ventricular septal defects (VSDs).

atrial septal defects


Input: Changes in GFAP expression and/or phosphorylation have been reported during brain damage or central nervous system degeneration.

GFAP

central nervous system degeneration


Input: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

seizures

seizures


Input: We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and 73 patients affected with FTD, all originating from the northeastern part of Italy.

FUS

sporadic


Input: Although the expression of erythropoietin in Hep3B cells was induced in response to the hypoxia-mimicking agent CoCl₂, there was no concomitant induction in FAC expression as assessed by mRNA levels and immunoprecipitable protein, and no detectable change in the cytoplasmic location of the FAC polypeptide as determined by indirect immunofluorescence.

FAC

hypoxia


Input: The genes involved in this translocation have been identified to be API2 on chromosome 11, which encodes an apoptotic inhibitor, and MALT1, a novel gene on chromosome 18.

translocation


Input: We combined computer-aided drug design with functional assays to identify low-molecular-weight compounds that bind to the corepressor binding groove of the BCL6 BTB domain.

weight


Input: In males carriage of the T allele of PTPN22 + 1858 was associated significantly with IMT in univariate and multivariate analyses, while in females it was associated with several risk factors for atherosclerosis (BMI, waist circumference, waist-to-hip ratio, serum concentrations of C-reactive protein and triglycerides) but not with IMT.

C-reactive protein

waist-to-hip ratio


Input: We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B.

PCNT

developmental dyslexia


Input: In summary, our findings indicate an interaction of SUN5 with DNAJB13 during spermatogenesis, provide mechanistic insights into the functional role of this interaction in sperm head-tail integration, and elucidate the molecular etiology of acephalic spermatozoa syndrome-associated & lt; i & gt; SUN5 & lt;/i & gt; mutations.

acephalic spermatozoa syndrome

acephalic spermatozoa syndrome


Input: Most sporadic follicular carcinomas positive for PAX8-PPARgamma were overtly invasive, whereas tumors lacking the rearrangement were predominantly minimally invasive.

sporadic


Input: This suggests that loss of SIRT1 expression is associated with the microsatellite instability phenotype of colorectal adenocarcinoma.

microsatellite instability


Input: The aim of this work was to examine the involvement of rck/p54 in carcinogenesis of hepatocellular carcinoma from HCV-related chronic hepatitis.

chronic hepatitis


Input: An additive effect on the risk of esophageal carcinoma development was found among individuals carrying LMP7/TAP2 haplotype C and infected by HPV (OR = 4. 33, 95% CI = 2. 53-7. 42, P < 0. 0001).

esophageal carcinoma


Input: Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene.

Nonaka myopathy

Nonaka myopathy


Input: IL-17A and ischaemia/reperfusion (I/R) injury were found to have an additive effect on Cxcl1 expression, suggesting that IL-17 may enhance myocardial neutrophil recruitment during MI.

ischaemia


Input: Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.

beta-arrestin 2

depression

beta-arrestin 2

depression


Input: With the aim of identifying new molecular targets for breast cancer therapy, we have identified the liver receptor homolog-1 (LRH-1) as an estrogen-regulated gene.

estrogen-regulated gene

breast cancer


Input: These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency.

carnitine deficiency

carnitine deficiency


Input: The present study revealed that c-kit protein ectopically expressed in SCLC is indistinguishable from that in leukemia cell lines with megakaryocytic characteristics with respect to amount, molecular size, and autophosphorylation status in response to recombinant human SCF.

SCF

leukemia


Input: Taken together, it is suggested that the activation of PERK and ATF6 pathway are the major determinant rather than the IRE-1α-XBP1 pathway for the ERS-mediated metabolic dysfunction, which might eventually leads to diabetic cardiomyopathy in non-obese type 2 DM.

PERK

obese


Input: However, little is known yet about association between LRRC4 and risk of pituitary adenoma.

pituitary adenoma


Input: Here we report on three unrelated patients with CBL mutations manifesting with hydrops fetalis, fetal pleural effusions and/or congenital hydro-/chylothorax.

CBL

hydrops fetalis


Input: Hyperoxia also has the potential to be used therapeutically to down-regulate VEGF expression in hypoxic retina in the hope of limiting the neovascular complications of ROP.

VEGF

hypoxic


Input: We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.

liver fibrosis

liver fibrosis


Input: We screened kryo-preserved tissue of cutaneous T cell lymphoma (CTCL, n = 36) such as mycosis fungoides (MF, n = 17), pleomorphic cutaneous T-cell lymphoma (n = 8) and Sezary' s syndrome (SS, n = 11) as well as a non-malignant entity (small plaques parapsoriasis, SPP, n = 5), for the expression of CTA by RT-PCR and Northern blot hybridization.

CTA

mycosis fungoides


Input: Both ACT-TT genotype and T-allele were significantly more prevalent in patients with PSD than in non-demented stroke patients, controls or patients with PRESD.

PSD

stroke


Input: The frequency of factor V Leiden mutation, ACE gene polymorphism, serum ACE activity and response to ACE inhibitor and angiotensin II receptor antagonist drugs in Iranians type II diabetic patients with microalbuminuria.

ACE gene

microalbuminuria


Input: This study tested the hypothesis that therapeutic siRNA-loaded photoluminescent mesoporous silicon nanoparticles (PMSNs) targeting CCR2 expression in Ly6C (high) inflammatory monocytes decrease the accumulation of these cells in the infarct, improve the efficacy of MSC transplantation and attenuate myocardial remodeling.

MSC

infarct


Input: Hematologic toxicity such as neutropenia, thrombocytopenia, and anemia were not different by the three tSNPs or haplotypes (CGT, CAT, and CAC) of DCK.

CGT

thrombocytopenia


Input: Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

TTPA

Ataxia with isolated vitamin E deficiency

TTPA

Ataxia with isolated vitamin E deficiency


Input: Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear.

FUS gene

sporadic


Input: These findings indicate that human eosinophils represent a potential source of TNF-alpha and MIP-1 alpha, that levels of expression of mRNA for both cytokines are high in the blood eosinophils of hypereosinophilic donors and in eosinophils infiltrating nasal polyps, that the eosinophils of normal subjects express higher levels of TNF-alpha than MIP-1 alpha mRNA, and that eosinophils purified from the blood of atopic donors can release TNF-alpha in vitro.

TNF-alpha

atopic


Input: These data demonstrate, for the first time, that MLC1 plays a role in astrocyte osmo-homeostasis and that defects in intracellular calcium dynamics may contribute to MLC pathogenesis.

MLC

MLC


Input: Although larger studies are required, this case report suggests that thrombomodulin gene mutations could be an additional genetic risk factor for thrombosis in carriers of the factor V Leiden mutation.

thrombomodulin

thrombosis

thrombomodulin

thrombosis


Input: Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD.

heavy chain

type 2 diabetes mellitus


Input: Among several non random chromosomal aberrations detected in BTC cell lines by comparative genomic hybridization, gain/ampli-fication of DNA at 5p was the most frequently observed alteration.

BTC

chromosomal aberrations


Input: Mutations in the corresponding human gene (PAH), which encodes the human hepatic PAH enzyme, result in hyperphenylalaninemia; the resulting phenotypes can range in severity from mild forms of hyperphenylalaninemia with benign outcome to the severe form, phenylketonuria with impaired cognitive development.

PAH

phenylketonuria

PAH

phenylketonuria


Input: CCAAT-enhancer-binding protein beta (CEBPB) is a pluripotent transcription factor that controls inflammation, proliferation, and differentiation.

CEBPB

inflammation


Input: We identify CNOT3 as a tumor suppressor mutated in 7 of 89 (7. 9%) adult T-ALLs, and its knockdown causes tumors in a sensitized Drosophila melanogaster model.

T-ALL

T-ALL


Input: The human t (14; 18) chromosomal translocation is assumed to result from illegitimate rearrangement between BCL-2 and D (H)/J (H) gene segments during V (D) J recombination in early B cells.

chromosomal translocation


Input: To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene.

LPL

LPL deficiency

LPL

LPL deficiency


Input: Rod ERG abnormalities may be present in heterozygous carriers of AIPL1 mutations.

ERG

abnormalities


Input: Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.

obese

obese


Input: In NSCLCs, EGFR mutations were detected in 75 cases (53. 2%) and were significantly associated with adenocarcinoma, female sex, and never smoking.

EGFR

smoking


Input: In vivo chromatin immunoprecipitation assay demonstrated that NS-398 induces the enhancement of HIF-1α binding on VEGF promoter, leading to the increase in VEGF gene expression in hypoxic conditions.

VEGF

hypoxic


Input: Topical antiangiogenic SRPK1 inhibitors reduce choroidal neovascularization in rodent models of exudative AMD.

choroidal neovascularization


Input: BRCA1 and BRCA2 mutations, which occur in most hereditary ovarian cancers (OCs) and approximately 10% of all OC cases, are associated with defects in homologous recombination and genomic instability, a phenotype termed' BRCAness'.

genomic instability


Input: Although these MRI features were suggestive of Rathke' s cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.

MRI

hyperprolactinemia


Input: In contrast to its link with the ACE D/I genotype, microalbuminuria was independent of TGF-beta-1 polymorphism in this group of never-treated, uncomplicated essential hypertensive men.

ACE

microalbuminuria


Input: Analysis of t (X; 18) translocation in synovial sarcoma had previously led to the definition of the SSX2 gene, the fusion partner on chromosome X.

SSX2 gene

translocation


Input: Angiotensin II (Ang II)-induced hypertrophy of vascular smooth muscle cells (VSMCs) is a pivotal step in the development of cardiovascular disease.

Angiotensin II

hypertrophy

Angiotensin II

hypertrophy


Input: Also, transfection with DDR2 siRNA decreased the VEGF expression level of SNU387, 423, 449 cells under hypoxia conditions (P < 0. 05).

VEGF

hypoxia


Input: The impaired GPIIb-IIIa transport is responsible for the thrombasthenia in this patient.

GPIIb

thrombasthenia

GPIIb

thrombasthenia


Input: These include the TRP vanilloid subtypes 1 (TRPV1), 2, 3, and 4, the cold and menthol receptor TRPM8, and TRPA1.

cold


Input: We report that the c-Jun NH2-terminal kinase (JNK) signaling pathway mediates neurodegeneration in SMA.

c-Jun

neurodegeneration


Input: Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal.

MRI

agenesis


Input: The mRNA expression of nucleophosmin/B23 in gastric cancers (T) and the matched adjacent " normal " gastric mucosa (N) obtained from patients without any preoperative treatment were determined.

nucleophosmin

gastric cancers

nucleophosmin

gastric cancers


Input: We analyzed polymorphic variants of DNA repair and detoxification genes in patients with multiple sclerosis (MS) who developed secondary acute promyelocytic leukemia (sAPL), in most cases after treatment with mitoxantrone (MTZ).

sAPL

multiple sclerosis


Input: The use of various model systems and the study of human disease should continue to lead to rapid advances in our understanding of the role of p63 in development, epithelial cell maintenance and tumorigenesis.

tumorigenesis


Input: Renal amyloidosis is characterized by the pathologic deposition within glomeruli and/or interstitium of congophilic fibrils, most often composed of either immunoglobulin light chains or serum amyloid A-related protein and, less commonly, mutated forms of apolipoproteins AI or AII, lysozyme, fibrinogen, gelsolin, or transthyretin.

Renal amyloidosis

fibrinogen


Input: In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).

LDHA

bipolar disorder

LDHA

bipolar disorder


Input: The gene CSTF2T, encoding the human variant CstF-64 polyadenylation protein tauCstF-64, lacks introns and may be associated with male sterility.

male sterility


Input: Of the 21 patients who had autoimmune hepatitis that was completely responsive to steroid therapy, 18 had anti-HCV by ELISA-I, but 13 of these patients had negative results by RIBA-II, and only two patients had HCV RNA.

RIBA

autoimmune hepatitis


Input: In the Avon Longitudinal Study of Parents and Children, rapid infancy weight gain was associated with increased risk of obesity at 5 and 8 years, with evidence of insulin resistance, exaggerated adrenarche and reduced levels of sex hormone binding globulin (SHBG).

SHBG

weight gain


Input: 348 tumours were examined for microsatellite instability (MSI) and expression of MMR proteins.

MMR

microsatellite instability


Input: Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.

tumour


Input: Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Genitopatellar syndrome

Genitopatellar syndrome


Input: Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.

protein C

amyloid


Input: We previously reported that compared to health controls, patients with liver cirrhosis present the highest levels of circulating miR-885-5p, followed by those with chronic hepatitis B and those with HCC.

chronic hepatitis B

chronic hepatitis B


Input: After 72 h of nickel exposure (70 microg Ni/m3), transgenic lines with intermediate levels of the TGF-alpha expression demonstrated attenuation of lung injury.

TGF-alpha

lung injury

TGF-alpha

lung injury


Input: The present experience includes PGD for sickle cell disease, α-and β-thalassemia (α-and β-thal).

PGD

sickle cell disease


Input: Aneuploidy is associated with genomic instability and may underlie the tumor-promoting properties of PGF (2alpha).

PGF

genomic instability


Input: Transcriptome analysis performed on 37 HCC needle biopsies (matched with their corresponding non-neoplastic parenchyma) and five normal liver donor samples revealed that SH2D4A is downregulated in HCC.

HCC

non-neoplastic


Input: The tumor-suppressor, phosphatase and tensin homolog deleted on chromosome 10 (PTEN), was identified as a bona fide target of both miR-92a and miR-19a in cholangiocarcinoma cells via sequence prediction, 3' untranslated region luciferase activity assay, and Western blot analysis.

cholangiocarcinoma


Input: Cytogenetic analysis carried out in 28 adipose tissue tumors diagnosed microscopically as myxoid liposarcoma (ML) revealed a t (12; 16) (q13: p11) chromosomal translocation in 26 of the 28 cases.

myxoid liposarcoma


Input: In primary CLL samples, cellular subsets with high ZAP-70 expression had increased expression of adhesion molecules and chemokine receptors in addition to an enhanced ability to migrate toward CCL21.

adhesion


Input: Recombinant adenovirus vectors (RAds) expressing truncated, secreted forms of human Tie2 (RAd-sTie2) and vascular endothelial growth factor receptor 1 (RAd-sVEGFR1) or a truncated, dominant-negative fibroblast growth factor receptor 1 (RAdDN-FGFR1) were used.

adenovirus


Input: Vascular endothelial growth factor (VEGF), a key mediator of intraocular neovascularization, is triggered by hypoxia and has been shown in the eyes of animal models of central retinal vein occlusion (CRVO).

VEGF

hypoxia


Input: Using a lung carcinoma line, which grows in C57BL/6J mice, we observed that when the tumour grew and cachexia was observed, the splenocytes produced IL-6, IL-11, and OSM, but not LIF.

OSM

lung carcinoma


Input: GDNF therapy did not significantly reduce amyloid and tau pathology, but rather, induced a potent upregulation of brain-derived neurotrophic factor that may act in concert with GDNF to protect neurons from atrophy and degeneration.

brain-derived neurotrophic factor

atrophy


Input: The most frequent cytogenetic abnormality is a break in the q 31-35 region of chromosome 5, where genes encoding for IL-3, IL-5 and GM-CSF (all cytokines involved in eosinophilopoiesis) are located.

cytogenetic abnormality


Input: The hepatic hydroxyproline content and serum hyaluronic acid were also significantly increased in TIMP-Tg-mice, whereas CCl (4)-induced liver dysfunction was not altered.

TIMP

liver dysfunction


Input: The cylindromatosis gene (CYLD) was identified as a tumor suppressor gene, which is mutated in familial cylindromatosis (Brooke-Spiegler syndrome), an autosomal-dominant predisposition to multiple tumors of the skin appendages.

CYLD

multiple tumors


Input: To date, 19 genetic variants have been identified in the cationic trypsinogen gene (PRSS1) of patients with hereditary, familial, or sporadic chronic pancreatitis.

sporadic


Input: Molecular genetic analysis of von Hippel-Lindau tumor suppressor gene (VHL gene) was performed on 38 tissues of human glial tumors (ependymoma, 1; astrocytoma, 6; oligodendroglioma, 1; oligoastrocytoma, 2; anaplastic oligoastrocytoma, 3; anaplastic astrocytoma, 14; glioblastoma multiforme, 11).

VHL gene

ependymoma


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

subretinal fluid


Input: NF-κB is constitutively active in most tumor cells, and its suppression inhibits the growth of tumor cells, leading to the concept of' NF-κB addiction' in cancer cells.

NF-κB

addiction


Input: The prevalence of NKX2-5 mutations in sporadic cases of ASD/PFO and other forms of congenital heart disease is unknown.

sporadic


Input: Immunofluorescence microscopy of WDM biopsies showed a focal increase of TIA1 in atrophic and vacuolated fibers.

WDM

WDM


Input: Circulating tumor cells predict progression-free and overall survival in Chinese patients with metastatic breast cancer, HER2-positive or triple-negative (CBCSG004): a multicenter, double-blind, prospective trial.

blind


Input: We find a positive correlation between Runx2, IL-11 and TGFβ1, a driver of the vicious cycle of metastatic bone disease, in prostate cancer (PC) cell lines representing early (LNCaP) and late (PC3) stage disease.

bone disease


Input: Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations.


Input: On the other hand, GIPC1 mRNA was almost undetectable in leukemia/lymphoma cell lines HL-60, Raji, and Daudi.

lymphoma


Input: These results clearly indicate that the cell lines TSU-Pr1 and JCA-1 are not of prostatic origin but are derivatives of the bladder carcinoma cell line T24.

bladder carcinoma


Input: Fetus-derived DLK1 is required for maternal metabolic adaptations to pregnancy and is associated with fetal growth restriction.

fetal growth restriction

fetal growth restriction


Input: Semiquantitative reverse transcription-PCR experiments revealed that expression of ENC1 was increased in more than two-thirds of 24 primary colon cancer tissues that we examined compared with corresponding noncancerous mucosae.

colon cancer


Input: To investigate whether salusin-β plays a role in myocardial remodeling after myocardial ischemia reperfusion (I/R) injury, rat I/R models were created by the left anterior descending coronary artery occlusion for 30 min, followed by 24 h or 7 days of reperfusion (control, n = 6 each).

salusin-β

myocardial ischemia


Input: NCAM-EC mice exhibited impaired working memory in a delayed non-match-to-sample task, which requires PFC function, but showed no differences in anxiety, olfactory abilities, or sociability.

NCAM

anxiety


Input: Other genetic associations were also observed in men but not women, such as greater' feel effects' and anger, and reduced fatigue, in the dopamine D2 receptor (DRD2 C957T single nucleotide polymorphism) TT versus CT or CC genotypes.

fatigue


Input: HCC cells were infected with adenovirus carrying Mfn2 (Ad-mfn2) or green fluorescent protein (Ad-GFP), used as a control.

adenovirus


Input: Although both doses of nicorandil failed to decrease the blood pressure, nicorandil significantly decreased the micturition frequency, tissue levels of NGF and increased the bladder blood flow in a dose dependent manner.

NGF

micturition frequency


Input: The results show that stimulation of 5-HT 1A receptors exerts anticonvulsant actions in stressed and unstressed mice, while stimulation of 5-HT 2A/2C receptors does not interfere with the effect of stress on picrotoxin-induced convulsions.

5-HT 1A

convulsions

5-HT 1A

convulsions


Input: In the present work 156 feline mammary lesions consisting of feline mammary carcinomas (FMCs), benign neoplasms, and hyperplastic/dysplastic tissues were evaluated histologically and by immunohistochemistry for expression of basal and luminal cytokeratins (CK), vimentin, alpha-smooth muscle actin, calponin, estrogen receptor (ER) alpha (a), and progesterone receptor (PR).

progesterone receptor

benign neoplasms


Input: The bcl-2 gene was first shown to be dysregulated in the majority of follicular lymphomas in which a t (14; 18) chromosomal translocation is present, but is also over-expressed in the absence of gene rearrangements in most cases of B-cell chronic lymphocytic leukaemia (B-CLL).

bcl-2 gene

chromosomal translocation


Input: To elucidate the genetic abnormalities in this family, we studied the linkage of apoB gene using three genetic markers.

apoB gene

abnormalities


Input: This report describes the first putative mutations, p. L70P and p. R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.

urocanic aciduria

urocanic aciduria


Input: These findings suggest that tau proteins are not always assembled in abnormal filaments such as twisted ribbons, paired helical filaments and straight tubules in neurons and glial cells, which have been shown in previous cases with frontotemporal dementia and parkinsonism linked to chromosome 17.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: In conclusion, our results implicated the AR-HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis.

GGN

male infertility


Input: Stored, frozen serum samples from 52 patients with testicular cancer (8 patients with HIV and 30 patients with samples near the time of diagnosis) and 84 controls (40 patients with HIV) were diluted 1: 40 and tested by immunofluorescence against SF158 cells transfected with HERV-K10 env [ENV1. 9 (+)] or gag (pACGAG).

testicular cancer


Input: Abrogation of IL-21 signaling has recently been shown to reduce GVHD while retaining graft-versus-leukemia/lymphoma (GVL) responses.

lymphoma


Input: Leptin expression in third trimester placenta (p) and leptin concentrations in umbilical cord blood (cb) were investigated in normal pregnancies [n = 10 (p), 31 (cb)] and abnormal pregnancies complicated with (i) maternal insulin-dependent diabetes [IDDM: n = 3 (p), 13 (cb)], (ii) gestational diabetes [GD: n = 2 (p), 10 (cb)] and (iii) fetal growth retardation [FGR: n = 5 (p), 5 (cb)].

FGR

diabetes


Input: Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls.

height


Input: The dual-color model of the ND-GFP nude mouse and RFP sarcoma cells is useful for the visualization and quantitation of bone and soft tissue tumor angiogenesis and evaluation of angiogenic inhibitors for such tumors.

RFP

soft tissue tumor


Input: Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: In contrast to previously reported results, symmetrical dimethylation of the EWS-derived RG-peptide results in a quantitative increase in the dissociation rate between SMN and the symmetrical dimethylated EWS RG-peptide.

SMN

dissociation


Input: Consistent with a lack of JNK activation, we saw no activation of MKK4 or MKK7 at any time point during ischaemia.

ischaemia


Input: Taken together, CB1 transgenic mice and rats treated with CB1 agonist WIN55212-2 induced proteinuria with upregulation of CB1 resulting in impaired nephrin expression, by inducing excess VEGF reaction in the renal glomeruli.

proteinuria


Input: These results suggest a possible relationship between DAT BP and memory deficits in abstinent METH users, and lend support to the notion that METH produces lasting effects on central DA neurons in humans.

DAT

memory deficits

DAT

memory deficits


Input: Furthermore, these findings are in agreement with the human genetic studies suggesting a strong association of GRID1 gene with several neuropsychiatric disorders including schizophrenia, bipolar disorder, autism spectrum disorders and major depressive disorder.

bipolar disorder

bipolar disorder


Input: In humans, mutations in the NDUFS6 gene, encoding a CI subunit, cause severe CI deficiency and neonatal death.

NDUFS6 gene

neonatal death


Input: A significant gender-by-genotype interaction also emerged for cold-pain perception (p = 0. 02); low 5-HTT-expressing females were less sensitive.

cold


Input: The angiogenic factor adrenomedullin (ADM) is a hypoxia regulated gene.

ADM

hypoxia


Input: Since this growth factor is induced by androgens, we studied the androgen receptor (AR) expression in BRCA-mutated tumors and in matched sporadic breast tumors.

androgen receptor

sporadic


Input: Recently, the IRF6 contribution that was reported for Van der Woude syndrome and non-syndromic oral clefts was extended to isolated tooth agenesis.

tooth agenesis


Input: Because HIF-1alpha is the major trigger for hypoxia-induced activation of the VEGF and Flt-1 genes, this could explain how NSAIDs inhibit hypoxia-induced angiogenesis.

VEGF

hypoxia


Input: Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

gliomas

gliomas


Input: Here, we review studies of AID, and the APOBEC family member, APOBEC3G, demonstrating that both enzymes introduce multiple deaminations by processive action on single-stranded DNA and that deaminations occur stochastically at hot-and cold-spot targets.

cold


Input: Using PCR, we amplified regions encompassing (A) 8 and (C) 8 microsatellite tracts within hMSH3 and hMSH6 from 31 RER + sporadic colorectal tumors, 8 hereditary colon cancers, 23 RER + gastric carcinomas, and 32 RER-gastric tumors.

RER

carcinomas


Input: The TWEAK-Fn14 system has now been identified as a novel inducer of skeletal muscle wasting.

muscle wasting


Input: Production of adrenomedullin (ADM), a vasodilator peptide, increases in response to ischemia and hypoxia in the vascular wall and the kidney.

ADM

hypoxia


Input: The ADM antagonist ADM-(22-52) reversed the shortened APD and abolished the reduction of I (Ca, L) in shock myocytes.

ADM

shock


Input: Fifty-five sequence variations in the five genes were identified in infertile and normozoospermic fertile individuals as controls and only one of them (SDHA c. 456 + 32G > A) showed significant genotype association with impairment of sperm production.

SDHA

infertile


Input: Heterogeneity between the granulomas was observed in those patients staining positive for both IFN-gamma and IL-4 mRNA; these patients exhibited granulomas having IFN-gamma and not IL-4 mRNA as well as granulomas positive for both cytokine mRNAs.

IFN

granulomas


Input: TRPC6 protein and mRNA expression were assessed in glioma (n = 33) and normal (n = 17) brain tissues from patients and in human glioma cell lines U251, U87, and T98G.

glioma


Input: These findings potentially broaden our understanding of the factors underlying clinical complaints to include the personality dimension of conscientiousness and its modification by COMT.

COMT

personality dimension


Input: RUNX1 has been one of the target genes for research into various autoimmune diseases due to its properties as a transcription factor and functional distribution for chromosomal translocation.

chromosomal translocation


Input: We showed that JFK-mediated ING4 destabilization leads to the hyperactivation of the canonical NF-κB pathway and promotes angiogenesis and metastasis of breast cancer.

JFK

metastasis


Input: Low incidence of oncogenic EGFR, HRAS, and KRAS mutations in seborrheic keratosis.

HRAS

seborrheic keratosis


Input: Mutations in the MLC1 gene, encoding a putative membrane protein, have been recently identified as a cause for MLC.

MLC

MLC


Input: In this study OPN cDNA was cloned into a retroviral vector and used to infect F98 Fischer rat-derived glioma cells and U87 human-derived glioblastoma multiforme (GBM) cells in vitro.

glioma


Input: Expression of Ki-67 and HIF-1alpha, activated caspase 3, microvascular density (MVD) and tumor necrotic area assessed.

MVD

necrotic


Input: We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia.

Gscl

schizophrenia


Input: A 58-year-old white woman with mild progressive gait disturbance of 15 years' duration whose examination revealed mild incoordination was analyzed for mutations in the X25 gene.

gait disturbance


Input: We investigated 82 tumors from patients who fulfilled the Bethesda guidelines for HNPCC as well as 146 sporadic tumors, analyzing microsatellite instability and expression of the 4 MMR proteins hMSH6, hMSH2, hMLH1 and hPMS2.

MMR

microsatellite instability


Input: New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.

ADC

ADC


Input: Evidence for the participation of cocaine-and amphetamine-regulated transcript peptide (CART) in the fluoxetine-induced anti-hyperalgesia in neuropathic rats.

cocaine-and amphetamine-regulated transcript

hyperalgesia

cocaine-and amphetamine-regulated transcript

hyperalgesia


Input: The relationships between VLDL concentrations and composition and changes in hepatic lipase and lipoprotein lipase activities were determined in rats, during the consumption of two low protein diets (2% casein or 5% gluten) (protein malnutrition) for 28 d, followed by the refeeding of a balanced diet for 14 d (15% casein) (refeeding).

hepatic lipase

protein malnutrition


Input: Understanding the relationships between these host factors and the variability in aflatoxin-adduct levels may help in identifying susceptible populations in developing countries and for targeting specific public health interventions for the prevention of aflatoxicoses in populations with HCC and chronic liver diseases.

HCC

liver diseases


Input: single nucleotide polymorphisms (SNPs) in the genes for catecholamine-O-methyltransferase (COMT), μ-opioid receptor and GTP cyclohydrolase (GCH1) have been linked to acute and chronic pain states.

chronic pain


Input: Using the conditioned medium obtained from hypoxia-stressed AsPC1 cells treated with MUC1 siRNAs, we demonstrated that MUC1 enhanced the endothelial tube formation, proliferation and migration ability, which induced by hypoxia-conditioned medium (HCM).

hypoxia


Input: The AlgDx of normal cognition, MCI, and dementia is a valid alternative that reduces time, effort, and biases associated with the ConsDx.

MCI

normal cognition


Input: The two papillary thyroid cancer cell lines and the follicular thyroid carcinoma cell line (positive control) had transitions (CGT-> CAT) in exon 8, codon 273, resulting in the replacement of arginine with histidine.

CAT

follicular thyroid carcinoma


Input: Three stages of cytokine mRNA expression could be distinguished: (i) interleukin (IL)-12, tumor necrosis factor (TNF)-beta (= lymphotoxin-alpha) and cytolysin appeared early and before onset of clinical signs of EAE; (ii) TNF-alpha peaked at height of clinical signs of EAE; (iii) IL-10 appeared increasingly at and after clinical recovery.

height


Input: We analyzed the effects of the AGT M235T and ATR A1166C polymorphisms on hypertension and age at the end stage renal disease (ESRD).

ATR

end stage renal disease


Input: We studied the frequency distribution of the PAI-I gene to test the hypothesis that the 4G/4G genotype favors myocardial ischemia and, even in the absence of acute infarction, promotes SCD in patients with CAD.

PAI

infarction


Input: The rate of IHC abnormality in the younger group was approximately 30% with a nearly equal distribution of MLH1/PMS2 and MSH2/MSH6 abnormalities.

abnormalities


Input: The ligands of peroxisome proliferator-activated receptor-alpha (PPAR-alpha) reduce ischemia-reperfusion injury in nondiabetic animals.

peroxisome proliferator-activated receptor-alpha

ischemia-reperfusion injury

peroxisome proliferator-activated receptor-alpha

ischemia-reperfusion injury


Input: To test the hypothesis that CTNNB1 activation in colorectal cancer modifies prognostic associations of body mass index (BMI) and level of postdiagnosis physical activity.

body mass index


Input: TGF-β (1) was secreted endogenously by hypoxic NPDF.

TGF-β

hypoxic


Input: Interestingly, beta (2)-AR mRNA was strongly down-regulated by androgen ablation therapy of prostate cancer patients.

beta (2)-AR

prostate cancer

beta (2)-AR

prostate cancer


Input: Several loci related to alcohol withdrawal on mouse chromosome 11 which corresponds to the region containing four GABA (A) subunit (beta2, alpha6, alpha1 and gamma2) genes on human chromosome 5q33-34, were also identified.

alcohol withdrawal


Input: The findings presented herein imply that chronically hypoxic trophoblasts may release sufficient sFlt-1 to cause endothelial dysfunction by depriving cells of VEGF activity.

VEGF

hypoxic


Input: In addition, BA significantly reduced cellular and secreted levels of vascular endothelial growth factor (VEGF), a critical angiogenic factor and a target gene of STAT3 induced under hypoxia.

VEGF

hypoxia


Input: Inhibition of NF-kappaB using a nondegradable mutant of IkappaBalpha suppressed inducible anchorage-independent transformation of P + JB6 cells, suggesting that NF-kappaB activation is required for tumor promotion.

NF-kappaB

tumor promotion


Input: Here, we show that lymphoma cells protected from apoptosis by expression of a bcl-2 transgene or by virtue of the t (14; 18) (q32; q21) translocation continue to register enhanced AV binding in response to BCR crosslinking.

translocation


Input: We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene.

dysequilibrium syndrome

dysequilibrium syndrome


Input: From these patients we chose 21 who had never smoked or drunk alcohol and performed immunohistochemical staining for p53 protein in paraffin-embedded archival blocks.

drunk

drunk


Input: Suppressed CEBPA DNA binding was defined by 21 good-risk AML patients with inv (16) or t (8; 21) (both abnormalities targeting CEBPA) and 8 NK-AML patients with dominant-negative CEBPA mutations.

CEBPA

abnormalities


Input: In the rabbit ear model of the HTS, JNK and ERK inhibitors significantly improved the architecture of the rabbit ear scar and reduced scar formation on the rabbit ear.

JNK

scar


Input: Here we show a reduction in the expression of PrRP mRNA during lactation and fasting and an acute effect of PrRP on food intake and body weight, supporting the hypothesis of an alternative role for the peptide.

PrRP

body weight


Input: Twenty-four hours of Adv-bcl-2 transfection to proximal and distal tubular cells in vitro upregulated Bcl-2/Bax ratio and inhibited hypoxia/reoxygenation induced cytochrome C translocation, O (2) (-) production and tubular apoptosis.

translocation


Input: A gene in close proximity, apolipoprotein B48 receptor gene (APOB48R), is tagged by the same SNP (s). We analyzed 454 overweight and obese children and adolescents (10. 8 ± 2. 6 years, BMI-SDS 2. 4 ± 0. 5; 55% girls) who completed a 1-year lifestyle intervention (' Obeldicks' program).

overweight


Input: To examine the possibility that another susceptibility gene of primary significance exists within the FcgammaR region, we screened for polymorphisms of the human FCGR2B gene, and examined whether these polymorphisms are associated with SLE.

SLE

SLE


Input: In addition, the genetic profile of the core subset was significantly different from BL with an 8q24 breakpoint not affecting one of the three immunoglobulin loci, BL with a translocation involving 18q21/BCL2, 3q27/BCL6 or 11q13/BCL1, additionally to a breakpoint at 8q24/MYC, and from other morphological types of lymphomas with an 8q24/MYC breakpoint.

translocation


Input: Common variants near GPR126/ADGRG6 (encoding the adhesion G protein-coupled receptor 126/adhesion G protein-coupled receptor G6, hereafter referred to as GPR126) were recently shown to be associated with AIS in humans.

adhesion


Input: Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V (D) J recombination activity.

Omenn syndrome

Omenn syndrome


Input: Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17.

genodermatosis


Input: Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

complex IV deficiency

complex IV deficiency


Input: Most notably, EGFRvIII-expressing U87 glioma cells show elevated activation of a key DSB repair enzyme, DNA-dependent protein kinase catalytic subunit (DNA-PKcs).

glioma


Input: Here we show that ligands that dissociate CRF from CRF-BP increase brain levels of' free CRF' in AD to control levels and show cognition-enhancing properties in models of learning and memory in animals without the characteristic stress effects of CRF receptor agonists.

CRF

AD

CRF

AD


Input: To refine the region of 20q amplification and to identify potential candidate genes involved in melanoma or even in melanoma progression from these regions, we combined fluorescence in-situ hybridization with MYBL2, ZNF217, CYP24 and STK6 specific probes (chromosomal region 20q13. 1-q13. 2) with high-throughput tissue microarray consisting of 280 primary melanomas and melanoma metastases.

melanoma


Input: Sequencing of amplified IVD cDNA from a type V mutant has failed to identify any abnormalities.

IVD

abnormalities


Input: Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK).

keratin 9

keratoderma


Input: By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype-phenotype correlation of their PRKACA amplification.

PRKACA

cytogenetic abnormality


Input: The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: The modes of inheritance found from pedigree studies were the following: 20% (15/75) were classified as autosomal dominant retinitis pigmentosa (ADRP), 17. 33% (13/75) were autosomal recessive (ARRP), 2. 66% (2/75) were unclassified (NC), and 60% (45/75) were sporadic cases (SCRP).

ADRP

sporadic


Input: Based on these results, an influence of STMN1 should be considered in studies aiming at the etiopathogenesis of a broad range of neuropsychiatric disorders with dysfunctional networking, including neurodegenerative disorders as well as schizophrenia, autism spectrum disorders, anxiety disorders, depression, and ADHD.

depression

depression


Input: In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n = 3), ABCC8 (n = 1) and homozygous INS (n = 1).

abnormalities


Input: We also compared the mRNA levels of PCNT2 in the peripheral blood lymphocytes of bipolar disorder (n = 21), schizophrenia (n = 21), depression (n = 33), and control subjects (n = 57).

bipolar disorder

bipolar disorder


Input: We demonstrate that Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 alleles, whether identical or not, necessary for manifestation of the characteristic aminoaciduria in affected individuals.

Hartnup disorder

Hartnup disorder


Input: We observed hypermethylation of the RPRM promoter in 8/11 leukemia cell lines and in 44. 8% (47/105) of pediatric AML samples compared with 6. 7% (2/30) of control samples.

RPRM

leukemia


Input: We show that a SNP in human FCGR2B that abrogates receptor function is strongly associated with susceptibility to SLE in both Caucasians and Southeast Asians.

SLE

SLE


Input: HLA antigens were determined in 1) 20 white and 8 African American anti-HMGCR patients, 2) 487 white and 167 African American controls, and 3) 51 white subjects with mild self-limited statin intolerance.

HMGCR

mild


Input: H-CGbeta-c selectively killed the Lhcgr expressing tumor cells, whereas GnRH-a blocked tumor progression through gonadotropin suppression, emphasizing the gonadotropin dependency of these adrenocortical tumors.

Lhcgr

tumor progression


Input: However, significant association between TNF-alpha-308G > A polymorphism and atopy status was noted (P < 0. 05).

TNF-alpha

atopy


Input: In total RNA isolated from lymphocytes of the translocation patient, we identified four different fusion transcripts consisting of PDGFB exons and parts of chromosome 1q24. 3.

PDGFB

translocation


Input: The analysis of covariance demonstrated no difference between glycosylated hemoglobin, body mass index, duration of diabetes, C-peptide, and GAD-Ab titer between the group carrying GC/CC and the group without allele C. In conclusion, the-1123G > C promoter polymorphism of PTPN22 gene, but not the + 1858C > T variant, is associated with LADA in adult Chinese Hans.

GAD

body mass index


Input: We conclude that myeloid lineage produced ephrin B1 is a negative regulator of bone resorption in vivo, and that activation of ephrin B1 reverse signaling inhibits osteoclast differentiation in vitro in part via a mechanism that involves inhibition of NFATc1 expression and modulation of phosphorylation status of ezrin/radixin/moesin.

bone resorption


Input: These data suggest that in diabetes the upregulation of cutaneous NGF may' over-troph' the surviving axons, increasing CGRP labelling, which may be important in the aetiology of painful diabetic neuropathy.

NGF

painful diabetic neuropathy


Input: These data indicate that ENH contributes to differentiation of the nervous system through cytoplasmic sequestration of Id2.

nervous system


Input: IL-12 p70 and IL-18 were immunohistochemically expressed in the epithelioid cells and giant cells of sarcoid granulomas.

granulomas


Input: Normal polycystin-1 (PC-1)/focal adhesion complex function is required for control of CT diameter during renal development, and abnormalities in these complexes have been demonstrated in human PC-1 mutant cystic cells.

abnormalities


Input: Previously, we reported an association between seven single nucleotide polymorphisms (SNPs) in four innate immunity genes (OAS2, OAS3, CD209, and TLR3) and human predisposition to tick-borne encephalitis, caused by a virus from the same Flaviviridae family, in a Russian population.

encephalitis


Input: While accounting for family clusters and blood pressure at baseline and with adjustments applied for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment, all associations of systolic and diastolic blood pressure changes with nine single nucleotide polymorphisms (SNPs) in PEAR1 were all non-significant (p ≥ 0. 059).

smoking


Input: The PAX5-FOXP1 translocation is a nonrandom aberration, which is recurrent in both childhood and in adult B-ALL, and may contribute to leukemogenesis by blocking differentiation of hematopoietic cells into mature B-cells.

B-ALL

B-ALL


Input: Moreover, curcumin suppressed the transcriptional activity of HIF-1 under hypoxia, leading to a decrease in the expression of vascular endothelial growth factor (VEGF), a major HIF-1 target angiogenic factor.

VEGF

hypoxia


Input: In control cells, Pak-1 served as a functional inhibitor for MEKK-1, which inhibits the complex formation of MEKK-1 and p-JNK and thus inhibits the translocation of this complex into nucleus.

MEKK

translocation


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

CBS

parkinsonism


Input: Overexpression of endothelial nitric oxide synthase attenuates cardiac hypertrophy induced by chronic isoproterenol infusion.

endothelial nitric oxide synthase

cardiac hypertrophy

endothelial nitric oxide synthase

cardiac hypertrophy


Input: Expression of the key ER stress-associated genes, including glucose-regulated protein 78 (Grp78), protein disulfide isomerase (PDI), and heat shock proteins (HSP25, HSP40, HSP70), were also suppressed by CeO2 nanoparticles.

shock


Input: There were significant increases in TS (p = 0. 02) and DPD (p = 0. 01) levels in residual tumor cells after CRT.

DPD

residual tumor


Input: The RUNX1-ETO fusion protein that is expressed by this translocation is poorly leukemogenic and requires additional mutations for transformation.

translocation


Input: Immunohistochemical (IHC) analysis and microsatellite instability (MSI) studies, genetic testing, a literature and online MMR mutation database review, in silico phenotype prediction tools, and an in vitro MMR activity assay were used to study the clinical significance of this variant.

MMR

microsatellite instability


Input: FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR.

FZD4 gene

sporadic


Input: The deletion spanned both SUCLA2 and RB1 gene regions, leading to manifestation of both mitochondrial disease and retinoblastoma.

mitochondrial disease


Input: It is of great interest that prostaglandin-endoperoxide synthase 2, tyrosine hydroxylase, Cart, Homer1 and glutamate decarboxylase have already been implicated in affective disorders by different approaches in previous reports.

prostaglandin-endoperoxide synthase 2

affective disorders

prostaglandin-endoperoxide synthase 2

affective disorders


Input: The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B.

NPS

NPS


Input: Recently identified is a new syndrome consisting of multiple and recurrent PGLs or PHEOs, somatostatinoma, and congenital polycythemia, due to somatic hypoxia-inducible factor 2α gene (HIF2A) mutations.

PGLs

polycythemia


Input: MiR-19a is correlated with prognosis and apoptosis of laryngeal squamous cell carcinoma by regulating TIMP-2 expression.

laryngeal squamous cell carcinoma


Input: It is however, unlikely that islet amyloid polypeptide is involved in the development of insulin resistance as insulin-resistant relatives with normal glucose-tolerance showed normal islet amyloid polypeptide concentrations.

islet amyloid polypeptide

insulin resistance


Input: Overexpression of the mouse MCP-1 gene product (classically termed JE) in astrocytes, the major physiological CNS cellular source of MCP-1, failed to induce neurological impairment.

neurological impairment


Input: Hyperglycemia (diabetes or galactosemia) increased H4K20me3, acetyl H3K9, and NF-κB p65 at the promoter and enhancer of retinal sod2, upregulated protein and gene expression of SUV420h2, and increased the interactions of acetyl H3K9 and NF-κB p65 to H4K20me3.

galactosemia


Input: Histological study revealed that loss of CA1 and CA3 pyramidal neurons after ischemia was marked in GFAP (-/-).

ischemia


Input: FISH was successful in 22 cases, and rearrangements involving JAZF1, SUZ12, EPC1, and PHF1 genes were detected in 10 of the 22 (45%) uterine tumors, including 2 of the 3 ESNs and 8 of 12 ESSs.

ESSs

tumors


Input: Although this patient had some risk factors for coronary artery disease, coronary atherosclerosis in this patient might have occurred as a result of lipoprotein abnormalities caused by at least one mutation in the apolipoprotein C-II gene.

apolipoprotein C-II

abnormalities


Input: In hypoxic HK-2 cells, IL-20 and IL-22R1 transcripts increased, and IL-20 upregulated IL-1 beta transcripts.

hypoxic


Input: The present results suggest that a combination of polymorphisms of MAO-A, COMT, and DRD3 might affect personality traits in Japanese women.

COMT

personality traits


Input: We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene.

pulmonary hypertension

pulmonary hypertension


Input: Furthermore, c-Src kinase activity was found to be increased in the hypoxic condition, and in the presence of antisense of Src, there was down-regulation of the total mRNA level and also the promoter activity of VPF/VEGF.

VEGF

hypoxic


Input: Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c. 448G & gt; C [p. Ala150Pro] and c. 559G & gt; T [p. Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIE & #946;).

TTD

TTD


Input: A new B-cell line showing a complex translocation (8; 14; 18) and BCL2 rearrangement.

translocation


Input: Incubation of cells with a calpain inhibitor, MDL, prevented tensin cleavage and induced morphological change in these cells, suggesting that cleavage of tensin and other focal-adhesion constituents by calpain disrupts maintenance of normal cell shape.

tensin

adhesion


Input: By Southern and polymerase chain reaction BCL2 translocation within major breakpoint region was found only in 3 of 37 FL, 1 of 55 DL and 2 of 39 HD.

translocation


Input: However, DAG increased in lipid droplets or lipid-associated endoplasmic reticulum rather than the membrane of CGI-58 ASO-treated mice, and thus prevented PKCε translocation to the plasma membrane and induction of insulin resistance.

translocation


Input: CRMP1 is a novel candidate protein for schizophrenia traits at the intersection of the reelin and DISC1 pathways that directly and functionally interacts with DISC1.

schizophrenia

schizophrenia


Input: Vogt-Koyanagi-Harada (VKH) disease is a putative autoimmune ocular inflammatory disease and is known to be associated with HLA-DR4 and-DR1 in Mestizos.

inflammatory disease


Input: Therefore, we sought to quantify PPARgamma mRNA in coronary arteries, the aorta and left ventricular specimens from patients with ischaemic (CHD) and dilated cardiomyopathy (CMP).

CMP

dilated cardiomyopathy


Input: Relative to wild-type MEF cells, MKK4-null MEF cells were highly susceptible to apoptosis by LY294002, paclitaxel, or serum starvation.

starvation


Input: These data show that rhodanese, but not CSE, is associated with DSS-induced colitis in mice, leading to a hypothesis that impaired detoxification of H (2) S due to down-regulation or suppression of colonic rhodanese is involved in IBD.

CSE

colitis


Input: Chronic NO inhibition as well as hypoxia induce fetal growth restriction and significantly change maternal circulating levels of sFlt-1 and PlGF, but not of VEGF.

VEGF

hypoxia


Input: Methods We screened for mutations in the coding and promoter regions of genes in the TNF-LTA region, including BAT1, NFKBIL1, LTA, TNF, LTB, AIF, and BAT2, and conducted a transmission disequilibrium test of 41 polymorphisms in 137 families identified through pro-bands with childhood-onset atopic asthma.

atopic asthma


Input: The second series of experiments was designed to study the effects of FGF2 neutralizing antibody (40 micrograms for 5 days after PAN injection, in MoAb group) on severely damaged podocytes caused by repeated (two courses) injections in the PAN nephropathy rats.

nephropathy

nephropathy


Input: More sudden death (7/41 versus 0/11) and left ventricular dysfunction (NYHA Class III approximately IV, 17/32 versus 1/10) were identified in patients with mutations in the global region of MYH7 than in patients with other mutations.

ventricular dysfunction


Input: In this sample of children diagnosed with ADHD, we find no association between the COMT ValMet gene variant, birth weight, and conduct disorder.

COMT

birth weight


Input: The low-activity COMT and CYP1A2 variant alleles were weakly related to lower percent mammographic density after adjustment for age, ethnicity, body mass index and reproductive variables (p for gene-dosage = 0. 08 and 0. 05, respectively).

mammographic density


Input: Emerging evidence shows that the upregulation of PPME1 is associated with poor prognosis in glioblastoma patients.

glioblastoma


Input: The orphan cotransport protein expressed by the SLC5A8 gene has been shown to play a role in controlling the growth of colon cancers, and the silencing of this gene is a common and early event in human colon neoplasia.

colon neoplasia

colon neoplasia


Input: Furthermore, WISP1v-induced cholangiocarcinoma invasion was significantly suppressed by the p38 MAPK inhibitor SB203580 but not by the p42/p44 MAPK kinase (MEK) inhibitor PD98059.

cholangiocarcinoma


Input: This study used global protein expression profiling to search for biomarkers to predict early recurrent hepatocellular carcinoma (HCC).

HCC

recurrent hepatocellular carcinoma


Input: These data are consistent with our previous findings linking NGF and APP signaling and suggest a causal relationship between altered synaptic connectivity, cholinergic tone depression and TrkA signaling deficit, and cognitive and neuromuscular decline in APP (YG/YG) mice.

NGF

depression

NGF

depression


Input: In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.

sporadic


Input: TFE3 knockdown reduced GPNMB expression in renal cancer cells harboring either TFE3 translocations or FLCN inactivation.

GPNMB

renal cancer


Input: Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS.

sporadic


Input: Despite the unaltered infarct size in nude rats, IPostC increased levels of phosphorylated Akt (p-Akt) and Akt isoforms (Akt1, Akt2, Akt3), and p-mTOR, p-S6K and p-4EBP1 in the mTOR pathway, as well as growth associated Protein 43 (GAP43), both in the peri-infarct area and core, 24 h after stroke.

stroke


Input: Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation.

Noonan syndrome

Noonan syndrome


Input: Using HCC cell cultures, we found that the expression of CHMP4B was progressively upregulated after the release from serum starvation.

HCC

starvation


Input: We have studied three B-NHL cell lines (DoHH2, VAL and ROS 50) and show that concurrent activation of BCL2 and MYC may follow translocation of both oncogenes to the same IGH allele.

translocation


Input: Potential pathogenetic implications of cyclooxygenase-2 overexpression in B chronic lymphoid leukemia cells.

chronic lymphoid leukemia

chronic lymphoid leukemia


Input: Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins.

insulin sensitivity


Input: In this paper we studied the expression and hypoxic regulation of PFKFB-4 and PFKFB-3 mRNA as well as its correlation with HIF-1alpha, HIF-2alpha, VEGF and Glut1 mRNA expression in the pancreatic cancer cell line Panc1 and two gastric cancer cell lines MKN45 and NUGC3.

VEGF

hypoxic


Input: Regulatory T cells (Treg) can suppress inflammation by hydrolysing this molecule via ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), also termed as CD39.

inflammation


Input: Our study uncovers a new regulatory pathway involving miR-19a that is critical to the severe phenotype of asthma and indicates that downregulating miR-19a expression could be explored as a potential new therapy to modulate epithelium repair in asthma.

asthma


Input: After culturing cancer cells under stressing conditions, such as serum starvation and/or hypoxia, ADM was found to be a survival factor in HEY but not in other cell lines.

ADM

hypoxia


Input: As expected, LB-1 also decreased Stat3 protein accumulation and blocked the physical interactions between HIF-1α/p300/phosphor-Stat3 (p-Stat3) at the pharmacological concentration to reduce VEGF expression, thereby hypoxia-induced angiogenesis.

VEGF

hypoxia


Input: Suppression of C8161 melanoma metastatic ability by chromosome 6 induces differentiation-associated tyrosinase and decreases proliferation on adhesion-restrictive substrates mediated by overexpression of p21WAF1 and down-regulation of bcl-2 and cyclin D3.

cyclin D3

adhesion


Input: We show that neither loss of heterozygosity nor promoter methylation of the wild-type BRCA1 allele is the predominant mechanistic origin of the observed genomic instability.

genomic instability


Input: We describe the association of genetic variation in the ACE gene in 1, 365 DCCT/EDIC subjects with incident persistent microalbuminuria (n = 312) and severe nephropathy (n = 115).

ACE gene

microalbuminuria


Input: The messenger RNA (mRNA) level of EfnB2 increased significantly in the hyperoxic phase (P7-P12), while EphB4, VEGF, VEGFR1 and VEGFR2 showed a significant-up to fivefold-increased expression at P14, the start of morphologically visible vasoproliferation caused by relative hypoxia.

VEGF

hypoxia


Input: The major effect of the 14; 18 translocation is a transcriptional deregulation of the bcl-2 gene resulting in levels of the protein and mRNA that appear to be inappropriate for B cells at a comparable stage of differentiation.

bcl-2 gene

translocation


Input: Heterozygous COL4A3 mutations were identified in five (12. 5%) FSGS families and one (2%) sporadic FSGS patient.

sporadic


Input: The purpose of the present study was to examine maspin expression and evaluate its clinicopathological significance in endometrial cancer.

maspin

endometrial cancer


Input: We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.

intellectual disability


Input: Consequently, a higher neonatal death rate (57. 1%) in hUGT1/Tlr2 (-/-) mice was observed when compared with hUGT1 mice (8. 7%).

neonatal death


Input: Complexin I expression is dysregulated in a number of neurological diseases including schizophrenia and depression.

Complexin I

depression

Complexin I

depression


Input: The first priority genes to be selected were genes that are known to be amplified in cancer, which included NKX2. 1, CHST9, CTNND2, SLC25A27, FGFR2, EGFR, and PTGER1.

cancer


Input: IL-28B gene transfection ex vivo also resulted in growth retardation of tumor cells in mice, through either direct antiproliferative action or induction of antitumor immunity.

growth retardation


Input: In addition to ER negativity, a higher parenchymal SER on preoperative MRI was an independent factor associated with subsequent IBTR in patients with breast cancer who had undergone breast-conserving treatment.

MRI

breast cancer


Input: The authors calculated the synergy index to evaluate potential interaction between exposure to ELF magnetic fields (> 0. 2 microT) and genetic susceptibility to acute myocardial infarction (AMI).

ELF

acute myocardial infarction


Input: We performed a systematic analysis of the MTNR1A gene in 246 recurrent calcium stone formers (136 men, 110 women; mean age 40. 2 ± 12. 0 years; body mass index 25. 8 ± 4. 5 kg/m2) and 269 healthy controls comparable for age and gender without a history of nephrolithiasis.

MTNR1A gene

body mass index


Input: The results indicate that TGF-β1-dependent IGF-IEc expression and MGF production in patients with fibrostenotic Crohn' s disease regulates smooth muscle cell hypertrophy a critical factor that contributes to intestinal stricture formation.

IGF

intestinal stricture


Input: Furthermore, the amount of ARA54 mRNA appeared to positively correlate with cyclin D1 mRNA levels in specimens of clinical colon carcinomas, indicating that ARA54 is not only involved in the regulation of cyclin D1 expression in cultured cell lines but also in clinical cancer specimens.

cancer


Input: The present study indicates that p53 can also inhibit the hypoxic induction of Src kinase activity and thereby may prevent VPF/VEGF transcription.

VEGF

hypoxic


Input: Variant translocation of the bcl-2 gene to immunoglobulin lambda light chain gene in chronic lymphocytic leukemia.

bcl-2 gene

translocation


Input: These observations indicate that hereditary pancreatitis is caused by CTRC-dependent dysregulation of cationic trypsinogen autoactivation, which results in elevated trypsin levels in the pancreas.

CTRC

hereditary pancreatitis

CTRC

hereditary pancreatitis


Input: Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene.

Osteoporosis-pseudoglioma

Osteoporosis-pseudoglioma


Input: Expression of angiogenic factors such as VEGF under conditions of hypoxia or other kinds of cell stress contributes to neovascularization during wound healing.

VEGF

hypoxia


Input: Continuous measurement of cell surface IRAP activity allowed accurate evaluations of GLUT4/IRAP vesicle translocation and of the establishment of defects in OLETF rats.

IRAP

vesicle


Input: The structures in the right hemisphere are found to be more affected by the APOE genotype than those in the left hemisphere and we identify the relevant regions in which significant atrophy occurs to be parts of the basolateral, centromedial, and lateral nucleus subregions of the amygdala and the CA1 and subiculum subregions of the hippocampus.

atrophy


Input: The aim of our experimental study was to verify the S100B increase in long bone fracture without haemorrhagic shock.

long bone fracture


Input: Male Sprague-Dawley rats with chronic constriction injury (CCI)-induced neuropathic pain were microinjected into the ventral PAG with normal saline (NS), pHSVIRES-lacZ (SHZ), or HSV-1 amplicon vector pHSVIRES-hPPE-lacZ (SHPZ), respectively.

PAG

neuropathic pain


Input: However, the potential roles of MIF in regulating hepatocellular carcinoma (HCC) tumor cell migration and the expression of angiogenic factors by HCC tumor cells have not been studied yet.

MIF

hepatocellular carcinoma


Input: In addition, we have documented that ANG II-induced skeletal muscle insulin resistance is associated with generation of reactive oxygen species (ROS).

ANG

insulin resistance


Input: Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome.

BBS

BBS


Input: Variegate porphyria is an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane.

protoporphyrinogen oxidase

Variegate porphyria

protoporphyrinogen oxidase

Variegate porphyria


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.

medulloblastomas

medulloblastomas


Input: Various oncogenes such as c-Src, v-Raf, and Ras, and multiple environmental stimuli, including hypoxia and ultraviolet radiation (UVR), can regulate VEGF expression under certain conditions.

VEGF

hypoxia


Input: The karyotype of a pulmonary metastasis exhibited the following complex numeric and structural aberrations: 72 approximately 74, XXY,-5, + 6, + del (8) (p21), del (9) (p22), + 10, der (11) t (3; 11) (p21; p15), del (12) (q13), der (13) t (5; 13) (q13; q34), + 18, + 19, + 20,-22 [cp10].

pulmonary metastasis


Input: We found a strong association (P = 0. 0003-0. 00007) between three markers localized within or near the INSIG2 gene (rs17587100, rs10490624 and rs17047764) and antipsychotic-related weight gain.

weight gain

weight gain


Input: The antiestrogenic effects of marijuana smoke condensate (MSC) and three major cannabinoids, ie., delta9-tetrahydrocannabinol (THC), cannabidiol (CBD), and cannabinol (CBN), were evaluated using in vitro bioassays, viz., the human breast cancer cell proliferation assay, the recombinant human estrogen receptor (ER) competitive binding assay, and the reporter gene assay.

estrogen receptor

marijuana

estrogen receptor

marijuana


Input: Conversely, mice with targeted S-HTT gene disruption are protected against hypoxic PH, and selective 5-HTT inhibitors reverse or prevent experimental PH.

HTT gene

hypoxic


Input: Here, we show that ELP3 and CTU1/2, partner enzymes in U34 mcm & lt; sup & gt; 5 & lt;/sup & gt; s & lt; sup & gt; 2 & lt;/sup & gt;-tRNA modification, are up-regulated in human breast cancers and sustain metastasis.

breast cancers

breast cancers


Input: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

Dejerine-Sottas disease

Dejerine-Sottas disease


Input: A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.

microsomal triglyceride transfer protein

abetalipoproteinemia

microsomal triglyceride transfer protein

abetalipoproteinemia


Input: Temporal gliomas can be classified into two types, MTG and LTG which have different growth patterns, surgical outcomes and prognoses.

LTG

gliomas


Input: Therefore, abnormalities of the POU1F1 gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin.

POU1F1 gene

pituitary hormone deficiency


Input: The present study shows that the higher expressing MPO genotype is overrepresented in early onset multiple sclerosis in females, implicating MPO in this demyelinating disease.

MPO

demyelinating disease


Input: GH treatment normalized the levels of IGF-I mRNA, aggravated the acidosis-related inhibition of the GH receptor gene, and did not modify the serum levels of GHBP and IGF-I.

GHBP

acidosis


Input: These results support targeting MARCO on the surface of DCs to improve trafficking and induction of anti-tumor immunity.

MARCO

tumor immunity


Input: Although HIF-1alpha was induced by hypoxia, VEGF reporter constructs with selectively mutated hypoxia-response elements remained responsive to hypoxia.

VEGF

hypoxia


Input: Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.

FER

hypoxia


Input: We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants.

AKT

preterm birth


Input: We included patients suffering from Friedreich' s ataxia (FRDA, n = 83), early onset cerebellar ataxia (EOCA, n = 30), autosomal dominant cerebellar ataxia (ADCA) type I (ADCA-I, n = 273), ADCA-III (n = 13) and multiple system atrophy (MSA, n = 67).

ADCA

multiple system atrophy


Input: None of 41 AIDP patients, including 8 cytomegalovirus-related AIDP patients, and 23 CIDP had IgG or IgM antibodies to ezrin, radixin and moesin; whereas, one patient with cytomegalovirus-related AIDP had anti-ezrin IgM antibodies.

radixin

cytomegalovirus


Input: The relevance of IP-10/CXCR3 signaling in myasthenia was validated by similar observations in MG patients.

myasthenia


Input: Cytogenetic analysis of a short-term culture from a round cell liposarcoma revealed ins (12; 16) (q13; p11. 2p13) as a sole abnormality in all metaphase cells studied.

round cell liposarcoma


Input: These results indicate that hypoxia and its accompanying low pH enrich for MMR-deficient cells and that loss of MMR renders human colon carcinoma cells hypersensitive to the ability of hypoxia to induce microsatellite instability and generate highly drug-resistant clones in the surviving population.

MMR

microsatellite instability


Input: In a three generation Dutch family with SPPK, we have found a G--& gt; A transition in the 3 " splice acceptor site of intron 2 of the DSG1 gene which segregated with the disease phenotype.

SPPK

SPPK


Input: Inhibition of the downstream effectors of PLCγ1, including Ca (2 +) and protein kinase C (PKCγ), also blocks the membrane translocation of Hsp90α, while activation of PKCγ leads to increased levels of cell-surface Hsp90α.

translocation


Input: A total of 55 cases were identified, of which eight revealed a complex der (8) t (8; 14; 18) with an MYC-IGH-BCL2 rearrangement resulting from translocation of BCL2 and MYC with a single disrupted IGH allele.

translocation


Input: Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13, 689 cases and 18, 226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome.

schizophrenia

schizophrenia


Input: However, protein levels of MARCKS were significantly increased in the membrane but not in cytosol fraction of PFC and hippocampus obtained from depressed suicide subjects as compared to normal controls.

MARCKS

suicide


Input: A subtle reciprocal translocation t (14; 22) (q32; q11 approximately 12) was identified using SKY in two patients and a second, much larger, translocation t (11; 22) (q13; q13) was identified using G-banding in three patients.

SKY

translocation


Input: Haplotype analysis placed the WS1 locus to a 45. 74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35.


Input: While BRCA1 + induces breast cancer by causing genome instability, most of the knowledge is known about somatic genome instability in breast cancer cells but not germline genome instability.

genome instability


Input: Therefore, there is as yet no evidence for an association between polymorphisms of Eco RV-digested genomic DNA probed with the pGA5 T-cell receptor alpha-chain complementary deoxyribonucleic acid and the predisposition to inflammatory bowel disease.

bowel disease


Input: The luciferase and the endogenous VEGF mRNA expression were apparently lower in a variant carrying mutations in both p53 alleles than in a parental line harboring wt-p53, implying that some types of mutant p53 constitutively accumulated in cells can decrease both the basal and the hypoxia-induced expressions in addition to wt-p53.

VEGF

hypoxia


Input: We studied the effect of MFGE8 deficiency on retinal homeostasis with age and on choroidal neovascularization (CNV) in mice.

choroidal neovascularization


Input: We used short hairpin RNA (shRNA)-mediated RNA interference to knock down TF expression in the human metastatic melanoma cell line LOX-L. After transfection with the shRNA construct, 3 stable clones with significantly downregulated TF expression were established.

LOX

metastatic melanoma


Input: Therefore, further studies of CORIN biology in early pregnancy may identify new therapeutic targets to improve implantation quality in early pregnancy and potentially reduce the rates of pregnancy complications caused by inadequate implantation (pre-eclampsia, FGR and miscarriage).

FGR

miscarriage


Input: The DRA gene appears to be a single-copy gene present on chromosome 7, a chromosome associated with colorectal tumorigenesis.

DRA

tumorigenesis


Input: We found that PDE4A is expressed in medulloblastoma, glioblastoma, oligodendroglioma, ependymoma, and meningioma.

medulloblastoma


Input: Variants in ADH7 were not associated with alcohol intake or GC risk.

alcohol intake


Input: In order to explore whether gene CHFR was inactivated by methylation in leukemia cells, the expression of CHFR was examined before and after treatment with demethylation agent in Molt-4, Jurkat and U937 leukemia cell lines by means of RT-PCR.

CHFR

leukemia


Input: Levetiracetam (LEV), a newer antiepileptic drug (AED) useful for several epilepsy syndromes, binds to SV2A.

epilepsy syndromes


Input: These results suggest that MK is expressed in the majority of HCC tissues and rarely in surrounding tissues in chronic liver diseases.

HCC

liver diseases


Input: Using real-time reverse transcriptase-polymerase chain reaction (RT-PCR), we examined the expression of CKS2 mRNA in tumors and the corresponding normal esophageal tissues that were obtained from 62 patients.

esophageal


Input: On Western blot analysis, calpain protein was increased 2-3-fold at 3-5 days after infection with ARHI adenovirus.

ARHI

adenovirus


Input: Association study on the DUSP6 gene, an affective disorder candidate gene on 12q23, performed by using fluorescence resonance energy transfer-based melting curve analysis on the LightCycler.

affective disorder

affective disorder


Input: In order to determine the possible role of the MAO region in susceptibility to affective disorders in an independent sample, we have genotyped 83 probands of bipolar affective disorder families, 56 sets of parents of bipolar probands, and 84 normal controls for intronic simple sequence repeat polymorphisms of the MAO-A and MAO-B genes.

MAO-B

affective disorders

MAO-B

affective disorders


Input: We have studied two IBS families and have identified heterozygous point mutations in codon 493 of the K2e gene in both families.

IBS

IBS


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.

Bdnf gene

atrophy


Input: Pretranslational suppression of glucose transport protein, isozyme 4 (GLUT 4), is a major mechanism of insulin resistance in adipocytes in obesity and non-insulin-dependent diabetes mellitus (NIDDM).

GLUT

insulin resistance


Input: Collectively, our studies demonstrate that GLS is required for tumorigenesis and support small molecule and genetic inhibition of GLS as potential approaches for targeting the tumor cell-autonomous dependence on GLS for cancer therapy.

GLS

tumorigenesis


Input: A recent study has suggested that the deletion allele (D allele) of the angiotensin converting enzyme (ACE) gene is associated with hypoxemia in SARS patients.

ACE

hypoxemia


Input: Although no structural chromosome aberrations at 8q24, the c-MYC locus, were distinct, the mRNA level of c-MYC in these myeloma cell lines was 30-50-fold that in normal peripheral blood lymphocytes.

c-MYC

chromosome aberrations


Input: The effect of weight reduction on GIPR gene expression in subcutaneous fat tissue was studied in a subset of 14 women.

GIPR gene

weight reduction


Input: Heterozygous mutations in TRPA1, which encodes the transient receptor potential cation channel, can cause familial episodic pain syndromes, and variants of genes coding for the voltage-gated sodium channels Nav1. 8 (SCN10A) and Nav1. 9 (SCN11A) lead to small-fibre neuropathy and congenital insensitivity to pain, respectively.

neuropathy


Input: Interleukin-1beta stimulation, not hypoxia, transcriptionally downregulated ADAMTS1 in chondrosarcoma cells, whereas VEGF-A expression was upregulated either by hypoxia or IL-1beta.

VEGF-A

hypoxia


Input: Interestingly, the several patients survived from neuroblastoma with both high mRNA expressions of MYCN and RUNX3, suggesting that RUNX3 high expression might overcome the aggressive behavior of MYCN.

aggressive behavior


Input: However, no significant effect of CX3CR1 on ischemia-induced neurodegeneration was seen.

neurodegeneration


Input: The role of SULF1 in growth factor signaling and its effects on human tumorigenesis are under active investigation.

tumorigenesis


Input: In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD.

CYLD

BSS

CYLD

BSS


Input: Genetic abnormalities associated with AML-MRC are often associated with adverse prognostic features, and many cases are preceded by a myelodysplastic syndrome (MDS) or a myelodysplastic/myeloproliferative neoplasm.

MRC

myelodysplastic/myeloproliferative neoplasm


Input: We summarize experimental data describing the roles of BDNF, VGF and other neuropeptides in depression and how they may be acting through the generation of new neurons and altered synaptic activity.

VGF

depression

VGF

depression


Input: Intrinsic susceptibility MRI identifies tumors with ALKF1174L mutation in genetically-engineered murine models of high-risk neuroblastoma.

MRI

high-risk neuroblastoma


Input: The Ca2 +-dependent NOS activity, which indicates NOS1 and NOS3 expression, was significantly reduced in lung carcinomas compared with adjacent non-tumour tissue (P < 0. 004).

carcinomas


Input: We report here a novel DDR2 missense mutation, c. 370C & #8201; & gt; & #8201; T (p. Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing.

SMED, SL-AC

SMED, SL-AC


Input: We identified LZTR1 variants in 43% and 30% of familial (three of the seven families) and sporadic patients, respectively.

sporadic


Input: SNAI2 mutation causes human piebaldism.

piebaldism

piebaldism


Input: Among the subjects studied, circulating chemerin levels were associated with obesity markers but not with markers of insulin resistance.

chemerin

insulin resistance


Input: Moreover, the expression levels of PSGL-1 on CD14 + + CD16 + monocytes were significantly higher in patients with plaque rupture or intracoronary thrombus assessed by FD-OCT. Up-regulation of PSGL-1 on CD14 + + CD16 + monocytes may be a crucial role in plaque rupture and thrombus formation.

plaque


Input: Pleomorphic (giant and spindle cell) carcinoma is genetically distinct from adenocarcinoma and squamous cell carcinoma by K-ras-2 and p53 analysis.

giant


Input: Further research proved that miR-30a can regulate the expression of RunX2 by binding to its 3'-UTR, which influence the osteoclast differentiation and osteolysis formation.

UTR

osteolysis


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

bipolar disorder

bipolar disorder


Input: The reactivity of IgG antibodies present in the sera from mothers with systemic lupus erythematosus and Sjögren' s syndrome and in the sera from asymptomatic mothers (a longitudinal study of 192 samples from 66 subjects) was investigated by ELISA using Ro52, Ro60 and 48-kDa La/SSB antigen proteins, as well as 45 synthetic peptides, 13-24 residues long, of Ro52/Ro60 proteins.

asymptomatic


Input: The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.

fundus albipunctatus

fundus albipunctatus


Input: Immunization with attenuated Listeria monocytogenes-secreting OVA before intracerebral infection strongly increased the number of intracerebral OVA-specific CD8 T cells aggravating neurological disease.

neurological disease


Input: Thus, cytogenetic abnormalities of 12p in hematologic malignancies result in at least three different molecular changes: deletions of KIP1, amplifications of CCND2, and structural rearrangements of TEL.

TEL

cytogenetic abnormalities


Input: The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.

INSR

smoking


Input: In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).

MAE

MAE


Input: Thus, augmented VEGF/VEGF receptor-2 autocrine mechanism stimulated HUVEC migration under hypoxic conditions.

VEGF

hypoxic


Input: In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.

ovarian cancers

ovarian cancers


Input: The fusion transcript AML1/ETO corresponding to translocation t (8; 21) (q22; q22) can be found in approximately 7-12% of childhood de novo AML.

translocation


Input: The relationship between the factors examined in the present study, clinicopathological features, and survival of the patients did not reveal any significant correlations with the exception of smoking, which was associated with microsatellite alterations (loss of heterozygosity and microsatellite instability) at the 9p21-22 locus (P = 0. 04) and the immunophenotypes p53 (P)/MDM2 (P) (P = 0. 04) and p16 (Ab)/pRb (Ab)/p53 (P)/MDM2 (P) (P = 0. 03), respectively.

microsatellite instability


Input: CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.

CRF

CRF


Input: Furthermore, hypoxia recruited STAT3, HIF-1alpha, and p300 to the VEGF promoter and induced histone H3 acetylation.

VEGF

hypoxia


Input: In this study, we found that ADAR2 expression tended to be decreased in the postmortem brains of patients with schizophrenia and bipolar disorder.

schizophrenia

schizophrenia