Input: In our laboratory, two novel continuous human colon cancer cell lines, SHT-1 and SHH-1, have been established in vitro from Chinese patients, and both cell lines have been passaged for 4 yr, and they have been continuously subcultured with more than 800 population doubling and without signs of senescence.

SHH

colon cancer


Input: Synaptic depression via mGluR1 positive allosteric modulation suppresses cue-induced cocaine craving.

depression

depression


Input: We have recently reported lipid/glucose metabolism abnormalities and increased liver triglyceride content in an AT-selective transgenic model overexpressing ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1), the AdiposeENPP1-Tg mouse.

abnormalities


Input: The monomeric RalGTPases, RalA and RalB are recognized as components of a regulatory framework supporting tumorigenic transformation.

RalA

tumorigenic transformation


Input: E-cadherin abnormalities resulting from CPG methylation promoter in metastatic and nonmetastatic oral cancer.

E-cadherin

abnormalities


Input: The methylation-specific polymerase chain reaction (MSP) with primers for methylated (M-MSP) and unmethylated (U-MSP) alleles of the p15, p16, p18, and RB genes was used to study five leukemic cell lines, 50 acute myeloid leukemia (AML) and 25 acute lymphoblastic leukemia (ALL) samples.

MSP

acute lymphoblastic leukemia


Input: Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MED

mild


Input: The frequencies of the CHEK2 p. H371Y in familial and unselected breast cancer cases and controls were 4. 24% (5/118), 1. 76% (16/909), and 0. 73% (9/1228), respectively.

breast cancer

breast cancer


Input: An autosomal recessive form of juvenile Parkinsonism (AR-JP) (MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra.

AR-JP

zona


Input: Smad1 has previously been shown to play a key role in the development of diabetic nephropathy (DN), by increasing synthesis of extracellular matrix.

diabetic nephropathy


Input: The frequency of IL-4 + IFN-gamma-IL-10-CD4 + cells (Th2) was significantly higher in the group with mild atopic asthma than in that with mild non-atopic asthma.

mild


Input: Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum.

TTR

FAP

TTR

FAP


Input: One hundred Italian patients affected with CHD (90 had sporadic non-syndromic CHD and 10 had syndromic CHD) were screened for NKX2. 5 mutations.

NKX2. 5

sporadic


Input: In addition, SAH caused large increases in markers of inflammation, including TNFalpha and NFkappaB, and markers of cell injury or cell death, including IgG endocytosis and caspase-3 activation, with glibenclamide significantly reducing these effects.

SAH

inflammation


Input: Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families.

CTSK

pycnodysostosis

CTSK

pycnodysostosis


Input: We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.

SLOS

SLOS


Input: To investigate the expression of adenosine A3 receptor (A3AR) in human colonic epithelial cells and the effects of A3AR activation on tumor necrosis factor alpha (TNF-α-) induced inflammation in order to determine its mechanism of action in human colonic epithelial cells, human colonic epithelial cells (HT-29 cells) were treated with different concentrations of 2-Cl-IB-MECA prior to TNF-α stimulation, followed by analysis of NF-κB signaling pathway activation and downstream IL-8 and IL-1β production.

inflammation


Input: Pin1 expression was elevated in human and mouse fibrotic liver tissues, and Pin1 inhibition improved dimethylnitrosamine (DMN)-induced liver fibrosis in mice.

liver fibrosis


Input: Furthermore, introduction of p21waf1/cip1 to other leukemia cells such as K562 may enhance their susceptibility to SP-B.

SP-B

leukemia


Input: Follistatin and FLRG were expressed both in normal tissue and in all the breast diseases investigated.

FLRG

breast diseases


Input: Molecular characterization of Clostridium perfringens isolates from humans with sporadic diarrhea: evidence for transcriptional regulation of the beta2-toxin-encoding gene.

diarrhea


Input: In this study, we sought to determine whether SP-D could be detected in murine serum and discovered that it was increased in mice bearing lung tumors.

SP-D

lung tumors

SP-D

lung tumors


Input: There was a significant increase in the frequency of the D4DR long alleles in individuals defined as high risk using the combination of novelty-seeking-related personality traits, severe obesity (i. e., BMI > 40), and any other traditional risk factor, but not with the traditional risk factors alone.

severe obesity


Input: Although the expression of almost all molecules did not differ between small (≤ 3 cm) and large HCC (> 3 cm), high IL-17 in periphery of tumor, high CD8 in center of tumor, or low CD8 in distant non-neoplastic liver was associated with high HCC recurrence rate in patients with small HCC, but not in those with large HCC.

HCC

non-neoplastic


Input: Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

MEFV

familial Mediterranean fever

MEFV

familial Mediterranean fever


Input: After excluding children with malaria parasitaemia, inflammation (CRP > 5 mg L (-1)), iron deficiency (ferritin < 12 μg L (-1)) or vitamin A deficiency (RBP < 0. 7 μg L (-1)), the prevalence of anaemia among those without α (+)-thalassaemia (43. 0%) remained significantly lower than that among children who were either heterozygotes (53. 5%) or homozygotes (67. 7%, P = 0. 03).

RBP

anaemia


Input: We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and " Jordan' s anomaly " of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan' s anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance).

enteropathy


Input: In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette' s syndrome and autistic traits, a de novo balanced t (3; 18) translocation truncated ZBTB20.

attention-deficit hyperactivity disorder


Input: Until now the essential transcription factor that determines the epithelial phenotype of breast cancer has not been identified and its role in epithelial-to-mesenchymal transition (EMT) and tumor progression remain unclear.

EMT

tumor progression


Input: This re-distribution of B7-H1 was concurrent with a similar translocation of phosphorylated AKT to the nucleus.

AKT

translocation


Input: Sustained reduction of AT1-receptor stimulation before stress prevents the hormonal and sympathoadrenal stress responses during isolation and prevents the gastric ulceration stress response to cold-restraint, indicating that increased AT1-receptor stimulation is essential to enhance the central sympathetic response and the formation and release of corticotropin-releasing factor (CRF) and arginine vasopressin that occur during stress.

corticotropin-releasing factor

gastric ulceration


Input: However, levels of anticitrullinated protein antibodies are apparently also increased and were involved in the pathogenesis of autoimmune arthritis in mice with collagen-induced arthritis (CIA).

CIA

autoimmune arthritis


Input: Serotonin transporter polymorphisms and measures of impulsivity, aggression, and sensation seeking among African-American cocaine-dependent individuals.

Serotonin transporter

aggression


Input: This study confirms a causative role of EJM1 in the pathogenesis of idiopathic generalized seizures in the majority of German families of JME patients and refines a candidate region of 10. 1 cM in the chromosomal region 6p21 between the flanking loci HLA-DQ and D6S1019.

HLA-DQ

generalized seizures


Input: Further studies are needed to confirm whether growth restriction in association with premature pubarche and insulin resistance is a specific manifestation of reduced IGF2 expression.

insulin resistance


Input: A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.

lipoprotein lipase

familial lipoprotein lipase deficiency

lipoprotein lipase

familial lipoprotein lipase deficiency


Input: Macrovascular diseases (MVD) in type 2 diabetes mellitus (T2DM) are often considered all together, without discriminating the areas involved.

MVD

type 2 diabetes mellitus


Input: While dysregulation of miR-143-5p/3p seems to be a common feature of ALS pathology, downregulation of miR-132-5p/3p and miR-574-5p/3p was evident in sporadic, TARDBP, FUS and C9ORF72, but not SOD1 mutant patients.

FUS

sporadic


Input: Other, equally aneuploid, but non-BLC rarely displayed these X chromosome abnormalities.

BLC

chromosome abnormalities


Input: Twelve different mutations in seven informative and six uninformative families were found in one of the candidate genes, KIAA0027, which we renamed " MLC1. "


Input: Sib pair linkage analyses (n = 852 sibling pairs) using a dinucleotide repeat marker (D4S43) that maps approximately 660 kb from the alpha-adducin gene provided no evidence of linkage between this marker locus and a locus influencing systolic, diastolic, or mean blood pressure levels.

alpha-adducin

mean blood pressure


Input: By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels.

blepharophimosis-ptosis-intellectual-disability syndrome

blepharophimosis-ptosis-intellectual-disability syndrome


Input: The absence of kinase activity seen in 32 of the families underscored the importance of Btk protein analysis as a diagnostic indicator of XLA.

Btk

XLA

Btk

XLA


Input: In silico miR-146a targeted 4 genes of the previously described monocyte activation signature in bipolar disorder; miR-212 targeted 2 of such genes.

bipolar disorder

bipolar disorder


Input: We found that brief, repeated electroconvulsive shock (ECS)-induced seizures (three individual seizures within 60 min) did not trigger an increase γ-H2AX immunostaining.

seizures


Input: Our results lend further support to the notion that besides hypoxia, inflammation via induction of VEGF through autocrine or paracrine pathways plays a key role in (re) vascularisation of the myocardium.

VEGF

hypoxia


Input: In a subset of patients with metastatic melanoma, T lymphocytes bearing the cell-surface marker CD8 (CD8 + T cells) can cause the regression of even large tumors.

metastatic melanoma


Input: Downregulation of MAPK1 may be related to the significant upregulation of HTR2A and downregulation of DRD1, suggesting an interaction in the medial thalamus serotonin-dopamine pathway elicited by airway obstruction.

airway obstruction


Input: Nerve growth factor enhances Clara cell proliferation after lung injury.

Nerve growth factor

lung injury

Nerve growth factor

lung injury


Input: We examined the expression and localization of c-Yes in human HCC cell lines (HLE, HLF, PLC/PRF/5 and Hep 3B) by Western blotting and immunohistochemical analyses; we also examined the expression of c-Yes by immunohistochemistry and Western blotting in the tissues of various liver diseases, including 39 samples from HCC patients.

HCC

liver diseases


Input: Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Phenylalanine hydroxylase

phenylketonuria

Phenylalanine hydroxylase

phenylketonuria


Input: Furthermore, elevated FGF23 and PTH levels as well as an increased axial bone mineral density score were measured.

PTH

bone mineral density


Input: Accumulation of CD1a + LC and GM-CSF upregulation at the border area of diabetic foot ulcer and reduction of LC concentration at the margin of venous calf ulcer compared to normal skin were observed.

diabetic foot ulcer


Input: Screening for mutations in the neuropeptide Y Y5 receptor gene in cohorts belonging to different weight extremes.

neuropeptide Y

weight


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: These results suggest that downregulation of ENO-1 could be utilized as a novel pharmacological approach for overcoming 4-OHT resistance in breast cancer therapy.

breast cancer

breast cancer


Input: We studied three genes involved in blood pressure regulation (angiotensin, angiotensin II type 1 receptor, α-adducin) and two genes involved in the amyloid pathway (apolipoprotein E (APOE) and sortilin-related receptor gene (SORL1)).

α-adducin

amyloid


Input: The role of TRPM8 channels in a series of airway responses induced by cold stimuli and the molecular and biochemical pathways of TRPM8 in regulating cold-induced responses are largely unknown.

cold


Input: The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patients.

GALT

galactosemia

GALT

galactosemia


Input: To investigate whether this disease requires the binding of specific peptides to B27, we made a minigene construct in which a peptide from influenza nucleoprotein, NP383-391 (SRYWAIRTR), which binds B27 with high affinity, is targeted directly to the ER by the signal peptide of the adenovirus E3/gp19 protein.

adenovirus


Input: We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found.

mild


Input: We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.

optic neuropathy


Input: The purpose of the study was to determine the relationship between microsatellite instability (MSI), promoter methylation and protein expression of MMR genes in epithelial ovarian carcinoma (EOC).

MMR

microsatellite instability


Input: Thus, AAV-HGFK1 treatment represents a potential therapy for bone metastasis in breast cancer.

AAV

bone metastasis


Input: Certain MPZ mutations, however, cause adult onset neuropathy with minimal demyelination but pronounced axonal degeneration.

MPZ

axonal degeneration


Input: The higher EMMPRIN expression in OKCs suggests that it may be involved in the aggressive behavior of this type of cyst.

EMMPRIN

cyst


Input: The HPRTMidland mutation affects a different domain of HPRT than the HPRTFlint mutation located at 167 nt away.

HPRT

HPRTMidland

HPRT

HPRTMidland


Input: We now demonstrate that hypoxia-inducible factor HIF2α and prostatic acid phosphatase (PAP) are preferentially expressed in hypoxic GSCs in comparison with non-stem tumor cells and normal neural stem cells and that PAP is regulated by HIF2α.

PAP

hypoxic


Input: Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

congenital deafness with inner ear agenesis, microtia, and microdontia

congenital deafness with inner ear agenesis, microtia, and microdontia


Input: These results suggest that hypoxia likely regulates cutaneous angiogenesis and microvascular permeability by two distinct mechanisms: (i) Induction of VPF/VEGF in epithelial and mesenchymal cells, including endothelial cells.

VEGF

hypoxia


Input: In a community sample of 2, 327 Caucasians, we tested the hypotheses that polymorphisms in the COMT and DRD3 genes are associated with personality traits conferring vulnerability to anxiety, depression, or alcohol misuse, or with current symptoms of these; and that the association is stronger in persons who also have been exposed to stressor experiences.

COMT

personality traits


Input: FGF2, the most widely characterized family member, is down-regulated in the depressed brain and plays a protective role in rodent models of affective disorders.

affective disorders

affective disorders


Input: Induction of proteinuria by cannabinoid receptors 1 signaling activation in CB1 transgenic mice.

proteinuria


Input: We wanted to assess whether the genetic variability of the ZAC1 gene was associated with anthropometric (weight, BMI, waist-to-hip ratio) or biochemical (plasma lipid, insulin, glucose levels, blood pressure level) phenotypes.

weight


Input: In this series of studies, we first ask whether endogenous FGF2 expression correlates with spontaneous anxiety, a trait associated with vulnerability to severe mood disorders in humans.

mood disorders

mood disorders


Input: Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis.

late cornified envelope gene cluster

psoriatic arthritis


Input: Heat shock induced the expression of Hsp60 and Hsp70 but not of adhesion molecules.

adhesion


Input: VEGF-A gene expression is up-regulated in tumors under hypoxic conditions, yet it is unclear how such up-regulation will affect the efficacy of RNA interference strategies targeting VEGF-A.

VEGF-A

hypoxic


Input: Expression of ETV6-NTRK in classical, cellular and mixed subtypes of congenital mesoblastic nephroma.

congenital mesoblastic nephroma

congenital mesoblastic nephroma


Input: A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.

CDP

short stature


Input: Increasing evidence supports a link between expressions of CD4, CD25, Foxp3, and CXCL13 in thymic hyperplasia with myasthenia gravis (MG) patients.

myasthenia gravis


Input: The 10q25. 3-26. 1 G protein-coupled receptor gene GPR26 is epigenetically silenced in human gliomas.

gliomas


Input: Our data provide evidence in favour of the implication of FOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients.

abnormalities


Input: Low doses of CDDO-Im and bortezomib overcome the cytoprotective effects of antiapoptotic proteins Bcl2 and heat shock protein-27 (Hsp27) as well as nuclear factor-kappa B (NF-kappaB)-mediated growth/survival and drug resistance.

shock


Input: Indeed, MCP-1 was expressed by invasive breast cancer cells (MDA-MB-231, BT549 and Hs578T), which do not express E-cadherin but was not produced by noninvasive breast cancer cell lines (MCF7 and T47D) expressing high level of E-cadherin.

invasive breast cancer


Input: These data implicate AHSG in the development of vascular calcified plaque in diabetic subjects.

AHSG

plaque


Input: Using flanking intronic sequences as primers to amplify 12 of the 20 exons of RET from genomic DNA of 27 Hirschsprung' s disease patients, we have now identified four mutations (one frameshift and three missense) that totally disrupt or partially change the structure of the tyrosine kinase domain of the RET protein (Ret).

RET

Hirschsprung' s disease

RET

Hirschsprung' s disease


Input: With the exception of MCL, which uniformly overexpresses both CB1 and CB2, the levels of cannabinoid receptors within other lymphoma entities were highly variable, ranging from 0. 1 to 224 times the expression in reactive lymph nodes.

lymphoma


Input: 2ME2 significantly reduced the expression of both HIF-1α and HIF-2α, and their downstream molecules, VEGF, LDHA and cyclin D1, rendering hypoxic HCC cells to increased sensitivity to 2ME2.

VEGF

hypoxic


Input: Administration of a small molecule tissue factor/factor VIIa inhibitor in a non-human primate thrombosis model of venous thrombosis: effects on thrombus formation and bleeding time.

tissue factor

venous thrombosis

tissue factor

venous thrombosis


Input: ERG examination could not be performed in these children, but extensive RPE abnormalities were not seen at this young age.

ERG

abnormalities


Input: This study showed that the AG genotype of TNF-α-308, associated with a high production of cytokines, was significantly decreased in patients with AD, while the low-producing GG genotype, which could lead to low production of TNF-α, was over-expressed in the atopic patients.

TNF-α

atopic


Input: Significant evidence was obtained for linkage of IV with the associated AGL phenotype to the epidermal differentiation complex (which includes FLG) assuming either a recessive (max Lod 3. 4) or dominant (max Lod 3. 6) inheritance model.

FLG

epidermal differentiation complex


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

breast cancer

breast cancer


Input: The genotypes of the NQO1, GSTM1, and GSTT1 genes were not associated with the development of atrophic gastritis among the H. pylori-seropositive subjects.

atrophic gastritis


Input: The purpose of this study was to determine the effects of COX inhibitors on intestinal adenomas and colonic aberrant crypt foci in this accelerated polyposis, mismatch-repair-deficient Min mouse model, in addition to a standard Min mouse model.

COX

aberrant crypt foci


Input: By site-directed mutagenesis of both NFI-binding sites, we show that the most proximal NFI site is essential for B-FABP promoter activity in transiently transfected malignant glioma cells.

NFI

malignant glioma


Input: The evaluation phase (stage 1, n = 2938) tested associations of albuminuria (n = 305) with six GLUT1 SNPs: rs841839, rs3768043, rs2297977, Enh2 (rs841847) XbaI (rs841853), and rs841858.

albuminuria


Input: Frameshift mutations were identified only in 6 PTP genes, of which PTPN21 show the highest mutation frequency at all in MSI-H tumors (17%).

tumors


Input: The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

mild


Input: Both HNPCC and sporadic MMR-deficient tumors invariably display high microsatellite instability (MSI-H).

MMR

microsatellite instability


Input: These observations support the hypothesis that endothelin-1, via the ET (A) receptor, directly increases P (alb), possibly via nephrin loss, as well as early inflammation in the hyperglycaemic rat.

nephrin

inflammation


Input: By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder.

schizophrenia

schizophrenia


Input: PHAPI/pp32 suppresses tumorigenesis by stimulating apoptosis.

PHAPI

tumorigenesis


Input: T-cell acute lymphoblastic leukemia (T-ALL), unlike other ALL types, is only infrequently associated with chromosomal aberrations, but it was recently shown that most individuals with T-ALL carry activating mutations in the NOTCH1 gene.

NOTCH1 gene

chromosomal aberrations


Input: The two groups were compared for antral follicle count (AFC) and serum anti-Mullerian hormone (AMH) levels (the best known markers of ovarian reserve and fertility potential), ovarian response, embryo quality and pregnancy and live birth rates.

AMH

ovarian reserve


Input: Specifically, we used real-time reverse transcription polymerase chain reaction (PCR) and Western blotting to investigate the upregulation of 7 angiogenic factors, namely, HO-1, vascular endothelial growth factor (VEGF), hypoxia-inducible factor (HIF)-1α, HIF-2α, cyclooxygenase-2 (COX-2), interleukin-8 (IL-8), and basic fibroblast growth factor (bFGF) under hypoxic conditions in the T24 urothelial carcinoma cell line.

VEGF

hypoxic


Input: Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.

bipolar disorder

bipolar disorder


Input: S100A1 reversed underlying Ca² ⁺ handling abnormalities basally and under β-AR stimulation shown by improved SR Ca² ⁺ handling, intracellular Ca² ⁺ transients, diastolic Ca² ⁺ overload, and diminished susceptibility to arrhythmogenic SR Ca² ⁺ leak, respectively.

abnormalities


Input: Sleep apnoea and neuropathy severity were highly correlated; the compound muscle action potential (CMAP) amplitude of the median nerve was inversely correlated with the apnoea-hypopnoea index (r =-0. 69, p = 0. 029).

CMAP

neuropathy


Input: We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c. 1807G & gt; C (p. Gly603Arg) in the serine protease domain and a known splicing mutation c. 863 + 1G & gt; T (IVS6 + 1G & gt; T).

IRIDA

IRIDA


Input: Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.

skin color


Input: In all the patients, the novel variant was found in cis with the mild, less frequent, p. P482S mutation located in the exon 10 of the CYP21A2 gene.

CYP21A2 gene

mild


Input: Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1. 5-Mb region on 17p11. 2-p12.

hereditary neuropathy with liability to pressure palsies


Input: Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit.

MGA

3-methylglutaconic aciduria


Input: Presently, we examined the formation of the TNFR1 signalling cascade and response of ASK1 during seizure-induced neuronal death.

seizure


Input: The RUNX1/AML1 gene is the most frequent target for chromosomal translocation in leukemia.

chromosomal translocation


Input: In normal individuals, hypoxia is known to induce an overexpression of VEGF, as measured in CSF.

VEGF

hypoxia


Input: Our patient is the first case of partial biotinidase deficiency associated with autism.

biotinidase

autism

biotinidase

autism


Input: In myocardial tissue and isolated CMs from patients with dilated cardiomyopathy, nuclear size was increased; Nucleoporin p62, cytoplasmic RanBP1, and nuclear translocation of importins (α and β) were decreased while Exportin-1 was increased.

dilated cardiomyopathy


Input: We propose that TRMT10A deficiency accounts for abnormalities in glucose homeostasis initially manifesting both ketotic and non-ketotic hypoglycaemic events with transition to diabetes in adolescence, perhaps as a consequence of accelerated β cell apoptosis.

abnormalities


Input: Our findings suggest a role for CXCR4 and CCR4 in the formation of giant papillae.

giant


Input: Exposure to hypoxia induced only a transient increase in mRNA transcript but a prolonged elevation of HIF-1alpha protein and its immediate downstream target gene product, VEGF.

VEGF

hypoxia


Input: Whereas, in human esophageal squamous cells (TE-1 and TE-10), PAR1 and PAR2 expression was increased but PAR4 was decreased.

esophageal


Input: METHODS Murine glioma GL261 cells and human glioma U87 cells were included in this study.

glioma


Input: Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

polymicrogyria with optic nerve hypoplasia

polymicrogyria with optic nerve hypoplasia


Input: Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.

PRS

PRS


Input: Culturing the cells under hypoxic conditions resulted in an increase in HIF-1alpha and VEGF mRNAs.

VEGF

hypoxic


Input: CD4, IL-17, Foxp3, and CD8 mRNA in 4 regions of the resection specimens (center of the tumor, periphery of the tumor, non-neoplastic liver bordering tumor, non-neoplastic liver distant from tumor) was quantitated using real-time polymerase chain reaction.

non-neoplastic


Input: Here, we show that the synergistically activated gene Plac8 is critical for pancreatic cancer growth.

pancreatic cancer


Input: HCS is caused by recessive deletions involving the SLC3A1 and PREPL genes.

PREPL

HCS

PREPL

HCS


Input: Our data suggest that TWEAK acts as a pro-inflammatory cytokine in the adipose tissue and that inflammation, but not hypoxia, may be behind its up-regulation in severe obesity.

TWEAK

hypoxia


Input: Tumors were analyzed for microsatellite instability by polymerase chain reaction and/or for MMR protein expression by immunohistochemistry to determine deficient MMR (dMMR) or proficient MMR (pMMR) status.

MMR

microsatellite instability


Input: Increased expression of endothelial nitric oxide synthase and caveolin-1 in the aorta of rats with isoproterenol-induced cardiac hypertrophy.

endothelial nitric oxide synthase

cardiac hypertrophy

endothelial nitric oxide synthase

cardiac hypertrophy


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

glioblastoma multiforme

glioblastoma multiforme


Input: The present findings provide direct evidence that B10 cells regulate imiquimod-induced skin inflammation and offer insights into regulatory B cell-based therapies for the treatment of psoriasis.

psoriasis


Input: Evidence suggests that lead and selected genes known to modify the toxicokinetics of lead--namely, those for the vitamin D receptor (VDR) and delta-aminolevulinic acid dehydratase (ALAD)--may independently influence blood pressure and hypertension risk.

VDR

blood pressure


Input: Molecular mechanisms behind increased cerebral vasospasm and local inflammation in late cerebral ischemia after subarachnoid hemorrhage (SAH) are poorly elucidated.

SAH

inflammation


Input: Perception of thermal pain and the thermal grill illusion is associated with polymorphisms in the serotonin transporter gene.

serotonin transporter

illusion


Input: Profiling miRNA expression in human airway-infiltrating T cells revealed elevated expression of the miRNA miR-19a in asthma.

asthma


Input: To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16.

PNKD

convulsions


Input: Several potent inhibitors have recently been reported that may help to unravel and exploit the full potential of FASN as a target for cancer therapy in the near future.

FASN

cancer

FASN

cancer


Input: Endemic pemphigus foliaceus (EPF) is a complex autoimmune disease characterized by the presence of antibodies against desmoglein 1, which lead to the loss of adhesion among keratinocytes (acantholysis).

EPF

acantholysis


Input: The reduced and heterogeneous expression of E-cadherin in thyroid carcinomas, particularly of the papillary histotype, appears to reflect transcriptional regulation or post-transcriptional modulation rather than structural abnormalities.

E-cadherin

abnormalities


Input: This study aimed to investigate the protective effect of esculetin in attenuating streptozotocin (STZ)-induced type I diabetic nephropathy and to understand the molecular mechanism involved in it.

STZ

nephropathy


Input: Potential Z-DNA elements surround the breakpoints of chromosome translocation within the 5' flanking region of bcl-2 gene.

bcl-2 gene

chromosome translocation


Input: PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).

MSP

autoimmune hepatitis


Input: Deregulated erythropoiesis in PV involves EPO hypersensitivity and apoptosis resistance of erythroid precursor cells associated with abnormally increased activation of RAS-ERK and phosphoinositide-3 kinase-AKT pathways.

ERK

hypersensitivity


Input: Recently, determining the MYCN status in neuroblastoma (NB) using the quantitative PCR (Q-PCR) and FISH instead of the Southern blotting (SB) has been recommended.

FISH

neuroblastoma


Input: Vernolide-A also caused a significant inhibition in the invasion of irradiated B16F-10 melanoma cells across the collagen matrix, and inhibited the radiation-induced gene expression of hypoxia-inducible transcription factor-1α (HIF-1α) and VEGF in B16F-10 cells and VEGF receptor (Flk-1) expression in human umbilical vein endothelial cells.

VEGF

hypoxia


Input: Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development.

gray platelet syndrome

gray platelet syndrome


Input: Therefore, to generate new insights into gene-environment interactions and complex behaviour, we examined the influence of variable prenatal stress (PNS) on two mouse lines with mutations in synaptosomal-associated protein of 25 kDa (Snap-25): the blind-drunk (Bdr) point mutant and heterozygous Snap-25 knockout mice.

blind


Input: Transfection of primary human prostate tumor cells (i. e., HPCA-10a, 10b, 10c, and 10d lines) with the transforming growth factor (TGF)-beta1 gene stimulated anchorage-independent growth and promoted tumor growth, angiogenesis, and metastasis after orthotopic implantation in severe combined immunodeficiency mice.

HPCA

prostate tumor


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

asymptomatic


Input: We describe a case of treatment-induced acute myeloid leukemia M2 after breast cancer with a rare reciprocal t (12; 12) (p13; q13) as a secondary cytogenetic abnormality in addition to the t (11; 19) (q23; p13. 1).

breast cancer


Input: In the mammary gland, the stromal extracellular matrix (ECM) undergoes dramatic changes during development and in tumorigenesis.

ECM

tumorigenesis


Input: Expression of tissue factor in adenocarcinoma and squamous cell carcinoma of the uterine cervix: implications for immunotherapy with hI-con1, a factor VII-IgGFc chimeric protein targeting tissue factor.

factor VII

adenocarcinoma


Input: This finding was related to the p110δ-dependent translocation of exogenous CSF-1 to the nucleus-associated CSF-1Rs, correlating with a prominent role of p110δ in activation of the Rab5 GTPase, a key regulator of the endocytic trafficking.

translocation


Input: We demonstrated that miR-204 exerts its function by targeting genes involved in tumorigenesis including brain-derived neurotrophic factor (BDNF), a neurotrophin family member which is known to promote tumor angiogenesis and invasiveness.

BDNF

tumorigenesis


Input: The percentage of the 40th fEPSP slope over the first during the tetanus was 18-/+ 3% in APP/PS1 vs. 26-/+ 2% in WT.

tetanus


Input: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

cartilage oligomeric matrix protein

pseudoachondroplasia

cartilage oligomeric matrix protein

pseudoachondroplasia


Input: High-level BCL2 expression is seen in most patients with chronic lymphocytic leukemia (CLL) in the absence of BCL2 chromosomal translocation.

chromosomal translocation


Input: Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

mucolipidin

mucolipidosis type IV

mucolipidin

mucolipidosis type IV


Input: Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.

developmental delay, epilepsy and neonatal diabetes

developmental delay, epilepsy and neonatal diabetes


Input: We made a quantitative immunohistochemical study of the expression of FUS in the skin from patients with sporadic ALS and controls.

FUS

sporadic


Input: RhoC was positively expressed in 18 out of 20 metastases (90. 0%), even higher than that in primary gastric cancer tissues.

RhoC

gastric cancer


Input: We have documented a novel mouse model, the STP mice, which displayed histologic presentations reminiscent to those of human chronic pancreatitis with signs of early tumorigenesis.

STP

chronic pancreatitis


Input: Expression of SNCG, MAP2, SDF-1 and CXCR4 in gastric adenocarcinoma and their clinical significance.

SNCG

gastric adenocarcinoma


Input: The results of the study suggest participation of COX-1, COX-2 and iNOS, but not nNOS, in transmission of pain stimuli in STZ-induced diabetic hyperalgesia.

hyperalgesia

hyperalgesia


Input: This study was carried out to investigate mammary tumorigenesis in growth hormone (GH) deficient spontaneous dwarf rats (SDR).

SDR

mammary tumorigenesis


Input: Our results demonstrated that smoking, age and VCM exposure and XRCC1 (P = 0. 03), CYP2E1 (P = 0. 04), and ALDH2 (P = 0. 08) were significantly associated with an increased SCE frequency.

smoking


Input: Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to " S " promoter polymorphism, may be associated with an increased risk for substance use disorders, particularly in the subjects with more consistent aggressiveness and impulsiveness.

aggressiveness


Input: We developed novel macromolecule transduction domains (MTD) which were tested for the ability to promote protein uptake by mammalian cells and tissues and used to deliver of biologically active RUNX3 into human gastric cancer cells.

MTD

gastric cancer


Input: Quantitative real-time polymerase chain reaction experiments revealed that reduced expression of Glo1 mRNA was observed in major depressive and bipolar disorder patients in a current depressive state, as compared with healthy control subjects.

bipolar disorder

bipolar disorder


Input: Hu antigen R (HuR), a ubiquitously expressed protein, controls a range of cellular functions such as tumor progression, apoptosis, invasion, and metastasis by stabilizing the AU-rich element located at the 3'-untranslated region (UTR) of target mRNAs.

UTR

metastasis


Input: FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case.

translocation


Input: We conclude that macrophages play a key role in early, inflammation-mediated skin tumorigenesis, with mechanistic evidence suggesting that ARG1 secretion drives tumor development by stimulating epidermal cell proliferation.

tumorigenesis


Input: A suggestion has been made that MBD4 (MED1) mutations may lead to an increased rate of microsatellite instability but this mechanism appears unlikely due to the nature of mutations we have found.

microsatellite instability


Input: The codon 37 (TGG--> TAG) beta (0)-thalassemia mutation found in a Chinese family.

TAG

thalassemia


Input: This is in contrast to patients with a normal TOP2A genotype for whom similar outcome was observed in both treatment arms (RFS: HR, 0. 90; 95% CI, 0. 70 to 1. 17; OS: HR, 0. 88; 95% CI, 0. 66 to 1. 17).

arms


Input: The expression of PODXL was associated with the migratory ability of human oral squamous cell carcinoma (OSCC).

PODXL

squamous cell carcinoma


Input: We conclude that homozygosity for the G1514--& gt; A mutation is exclusively responsible for the adult form of Sandhoff disease in this family, and that the A619--& gt; G substitution is not a deleterious mutation but rather a common HEXB polymorphism.

HEXB

Sandhoff disease

HEXB

Sandhoff disease


Input: Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

HGSNAT

Sanfilippo syndrome type C

HGSNAT

Sanfilippo syndrome type C


Input: The t (14; 18) (q32; q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma.

translocation


Input: Mutations in the epidermal growth factor receptor gene are linked to smoking-independent, lung adenocarcinoma.

epidermal growth factor receptor gene

smoking


Input: bcl2 t (14: 18) translocation is the commonest chromosomal alteration observed in non-Hodgkins lymphoma (NHL).

translocation


Input: CDH13 and SHP1 promoters were highly methylated (81. 36% and 86. 44%, respectively) in endometrial carcinoma, while CDH13 promoter methylation was also present in complex hyperplasia and atypical hyperplasia (51. 72% and 50. 00%, respectively).

hyperplasia


Input: Omega-3 fatty acids prevent the ketamine-induced increase in acetylcholinesterase activity in an animal model of schizophrenia.

acetylcholinesterase

schizophrenia

acetylcholinesterase

schizophrenia


Input: To investigate the association of 21 polymorphisms within 13 genes, APOE, APOB, APOC3, CETP, LPL, PON1, MTHFR, FGB, F5, GPIIIa, SELE, ACE and AGT, with inter-individual blood pressure (BP) variation.

blood pressure


Input: Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice.

dystrophin

muscular dystrophies

dystrophin

muscular dystrophies


Input: GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

congenital stationary night blindness

congenital stationary night blindness


Input: Here we report the first case of a family with two patients affected by Fraser syndrome due to a deletion of 64 kb (deletion 4q21. 21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene.

Fraser syndrome

Fraser syndrome


Input: Xenograft tumors of LNCaP and PC3 were prepared and compared with human prostatic adenocarcinoma and SCNC for the expression of key signaling molecules by immunohistochemistry and Western blot analysis.

prostatic adenocarcinoma


Input: The mRNA expressions of VEGF and its receptor Flk-1 in the border area of infarct myocardium were determined through RT-PCR.

VEGF

infarct


Input: Northern blot and immunoblot were used to quantify mRNA and proteins for aquaporin-2 (AQP2) as well as urea transporters UT-A1, UT-A2 and UT-B1, in subzones of the renal medulla of rats with streptozotocin-induced diabetes.

diabetes


Input: This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms.

MCP

neurological symptoms


Input: 4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome.

Silver syndrome

Silver syndrome


Input: Recently, functional studies of the 3'-UTR of the PTH gene, encoding parathyroid hormone, have highlighted it as a potential target for pathogenic mutations in patients with parathyroid dysfunction.

UTR

parathyroid dysfunction


Input: On starvation, CAPNS1 depletion is associated with a higher rate of FoxO3A dephosphorylation and translocation to the nucleus and to a sharper increase in the levels of p27Kip1 and Bim, the products of two FoxO target genes.

translocation


Input: Increased expression of several apoptosis-related genes (p53, fas, ratio of bax to bcl-2, GAPDH) in DS brains has been reported.

GAPDH

fas


Input: IL-6 is related to the extent of left ventricular dysfunction at peak stress and to persistent LV dysfunction during recovery.

left ventricular dysfunction

left ventricular dysfunction


Input: In addition, three glioma cell lines (U87, U563, and U251N), primary cultures of human fetal astrocytes, as well as adult and fetal human brain cDNA were used.

glioma


Input: Language features in a mother and daughter of a chromosome 7; 13 translocation involving FOXP2.

translocation


Input: EMT markers are significant indicators of the appearance of cystic lesions, tumor progression, bone destruction and endocrine functions.

EMT

tumor progression


Input: After adjustment for Intergroup Rhabdomyosarcoma Study-TNM stage, tumor site, age, tumor histology, and translocation status by multivariable analysis, only myogenin retained an independent association with RFI (P = 0. 034) and OS (P = 0. 0069).

RFI

tumor


Input: We have found increased IL-18 and sICAM-1 levels in subjects with type 1 diabetes and their first degree relatives, who share diabetic HLA haplotypes: DRB1 * 03/DRB1 * 04 or DRB1 * 03/* 04/DQB1 * 02 independently of their autoimmune status.

autoimmune status


Input: We performed immunohistochemical analysis of platelet-derived growth factor receptor alpha (PDGFRA), PDGFRB, JUNB and JUNC expression in formalin-fixed, paraffin-embedded specimens of 15 NSCLC brain metastases (5 ALK translocations, 3 of them involving EML4, 5 ALK amplifications, 5 without ALK aberrations).

JUNB

brain metastases


Input: In this study, TIEG1 was found to induce apoptosis in TGF-beta resistant cancer cells and concurrently enhanced gemcitabine chemosensitivity.

TGF-beta

resistant cancer


Input: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

familial breast cancer

familial breast cancer


Input: Expression of VEGF in tumour cells was strongly increased in areas directly adjacent to necrotic/hypoxic regions.

VEGF

hypoxic


Input: The translocation t (14; 18) (q32; q21) occurs in 70% of follicular lymphomas and places the BCL2 proto-oncogene, normally located at 18q21, under the control of the immunoglobulin heavy chain (IgH) gene at 14q32.

translocation


Input: In this study, we performed real-time quantitative PCR on 32 pathologically confirmed glioma samples (grade I, 4 cases; grade II, 11 cases; grade III, 10 cases; and grade IV, 7 cases; according to the 2007 WHO classification system) and four glioma cell lines (A172, U251, U373, and U87).

glioma


Input: In human hepatoma Hep3B cells, SORBS1 was partly dissociated from the insulin receptor complex and bound to c-Abl protein upon insulin stimulation.

hepatoma


Input: Examples of endocrine syndromes are classical carcinoid syndrome caused by serotonin (measured in the urine as its metabolite 5-HIAA), insulinoma syndrome caused by insulin or proinsulin, Zollinger-Ellison syndrome resulting from gastrin secretion, glucagonoma syndrome caused by glucagon, WDHA syndrome caused by vasoactive intestinal peptide, or Cushing' s syndrome resulting from ectopic production of adrenocorticotropic hormone or corticotropin-releasing hormone.

adrenocorticotropic hormone

glucagonoma syndrome


Input: Though the data from this pilot study had no clinical correlations we suggest that further studies are warranted on the role of this Th1 subset marker in the pathogenesis of sarcoidosis.

sarcoidosis


Input: We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31. 1 in ovarian (P = 4. 95 & #215; 10 (-4), false discovery rate (FDR) = 0. 003) and colorectal (P = 0. 01, FDR = 0. 09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0. 03, FDR = 0. 09).

colorectal tumors

colorectal tumors


Input: Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases.

COMP

PSACH

COMP

PSACH


Input: Previous studies have shown that tachycardia induced by intravenous injection of bromocriptine, which persisted after adrenalectomy, was mediated by central dopamine D2 receptor stimulation.

dopamine D2 receptor

tachycardia

dopamine D2 receptor

tachycardia


Input: Our results thus indicate that the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in the dot like structures.

genomic instability


Input: In addition, CD161 (+) Th cells exhibited pathogenic features, including polyfunctional proinflammatory cytokine production, an ability to activate synovial fibroblasts, and to survive and persist in the inflamed and hypoxic joint.

hypoxic


Input: In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype.

SCM

SCM


Input: In this study, the levels of Wnt3a expression were investigated in 80 HCC tissues or sera of 186 patients with chronic liver diseases.

HCC

liver diseases


Input: The genetic status of CHST6 was determined for all members of these MCD families.

MCD

MCD


Input: Treatment with either drug produced accumulation of HIF-1alpha in vitro but strongly inhibited the production of CAIX and vascular endothelial growth factor (VEGF) under hypoxia.

VEGF

hypoxia


Input: Altogether, these results identify Pak1 as an important factor in the initiation and progression of atherogenesis.

atherogenesis


Input: This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects.

myosclerosis

myosclerosis


Input: Insulin resistance in obese boys leads to up-regulation of IRS2, RSPO1, and DNAJC15 gene expressions as wells to down-regulation of IRS1 and RIPK2 genes in the blood cells versus obese patients with normal insulin sensitivity.

obese


Input: Anti-PM-Scl is one such antibody and is found in pure myositis, myositis in overlap, and systemic sclerosis (SSc).

PM-Scl

myositis


Input: The Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma2 in diabetes patients was associated with increased waist circumference and waist to hip ratio.

peroxisome proliferator-activated receptor

waist circumference


Input: Our results suggest that HCN1 protein could be a potential target for treatment of anxiety and depression disorders.

depression

depression


Input: The premalignant lesion of the initially removed gonad was positive for OCT3/4, TSPY and stem cell factor in germ cells, and for FOXL2 in the stromal component (ie, granulosa cells), but not for SOX9.

premalignant lesion


Input: Blood samples were collected at 0, 2, 4, and 6 h. Insulin with glucose infusion led to the maintenance of euglycemia and a significant suppression of reactive oxygen species (ROS) generation, p47 (phox) expression, Toll-like receptor (TLR)-4, TLR-2, TLR-1, CD14, high-mobility group-B1 (HMGB1), p38 mitogen-activated protein (MAP) kinase, c-Jun NH2-terminal kinase (JNK)-1, and platelet/endothelial cell adhesion molecule expression and a fall in serum concentrations of C-reactive protein, HMGB1, and rapid upon activation T cell expressed and secreted.

fall


Input: By flow cytometry and immunoprecipitation experiments we demonstrate that NSCLC cells (A549 adenocarcinoma and DG 3 large cell carcinoma) coexpress integrin heterodimers composed of beta 1, beta 3, beta 4, and beta 5 subunits, whereas SCLC cells (AE2 and H69) express only beta 1 integrin heterodimers.

large cell carcinoma


Input: CYBA (p22phox) variants associate with blood pressure and oxidative stress markers in hypertension: a replication study in populations of diverse altitudes.

CYBA

blood pressure


Input: Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined.

ACG

blind


Input: Our data indicate that imbalances in STP and release dynamics of inhibitory and excitatory synapses trigger network hyperexcitability potentially leading to epilepsy/autism manifestations.

STP

autism


Input: The expression of CXCL16/CXCR6 was significantly higher in prostate cancer than in benign prostatic hypertrophy.

benign prostatic hypertrophy


Input: In this study, we attempted to determine the expression of Bmi-1 stem cell marker and of Shh pathway downstream target genes glioma-associated oncogene homolog 1 (GLI1), protein patched homolog 1 (PTCH1), Cyclin D2, plakoglobin (γ catenin), NK2 homeobox 2 (NKX2. 2), paired box gene 6 (PAX6), secreted frizzled-related protein 1 (SFRP1), and hedgehog interacting protein (HHIP) in 11 neuroblastoma cell lines and 41 neuroblastoma samples.

neuroblastoma


Input: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.

Wilson disease

Wilson disease


Input: Quercetin inhibits left ventricular hypertrophy in spontaneously hypertensive rats and inhibits angiotensin II-induced H9C2 cells hypertrophy by enhancing PPAR-& #947; expression and suppressing AP-1 activity.

angiotensin II

hypertrophy

angiotensin II

hypertrophy


Input: Taken together, our data suggest that anti-VEGFa treatment in glioblastoma may inhibit neovascularization not only by VEGFa itself but also by its regulatory effect on MMP2.

neovascularization


Input: We analyzed the sex, gestational age, delivery mode, body weight at birth, maximal body weight loss and genotypes of G71R and (TA) (7) polymorphic mutations of UGT1A1.

body weight


Input: In this study, we found that sialyltransferase7A (Siat7A), one of the members of sialyltransferase family, was significantly increased in the ischemic myocardium, as well as in the human cardiomyocyte cell line AC16 under hypoxic condition.

hypoxic


Input: The aims of this study were to identify and report mutations in the OPA1 gene in Japanese patients with ADOA and to describe the clinical features associated with the mutations.

ADOA

ADOA


Input: Although in the pre-clinical setting, EMT has also been related to an accelerated tumor progression and to an increased resistance to conventional chemotherapy.

EMT

tumor progression


Input: As to the second aim, the possible association of cathepsin B along with selected molecular markers, cathepsin L, and endogenous cysteine protease inhibitors (stefins A and B and cystatin C) with meningioma malignancy was determined using enzyme-linked immunosorbent assays in tumor homogenates.

cathepsin L

meningioma

cathepsin L

meningioma


Input: We observed reduced expression of the TH1 transcription factor, T-bet, in T cells from airways of patients with asthma compared with that in T cells from airways of nonasthmatic patients, suggesting that loss of T-bet might be associated with asthma.

asthma


Input: The χ (2) subdivision method showed that the spontaneous YMDD mutation rate in HCC was higher than that in other liver diseases.

HCC

liver diseases


Input: These results indicate that the expression of OPRT and DPD are important predictors of both survival and the response to adjuvant chemotherapy in gastric cancer patients.

OPRT

gastric cancer

OPRT

gastric cancer


Input: U-box protein carboxyl terminus of Hsc70-interacting protein (CHIP) mediates poly-ubiquitylation preferentially on four-repeat Tau and is involved in neurodegeneration of tauopathy.

Hsc70-interacting protein

tauopathy


Input: Letm1 knock-down by a lentivirus bearing LV-Letm1-sh resulted in mitochondrial swelling and decreased expression of Letm1 target protein mitochondrially encoded cytochrome B (MT-CYB).

MT-CYB

mitochondrial swelling


Input: Overexpression of Mps1 in colon cancer cells attenuates the spindle assembly checkpoint and increases aneuploidy.

aneuploidy


Input: By contrast, both RFDD and real-time PCR failed to show altered expression of the schizophrenia candidate gene disrupted in schizophrenia 1 (DISC1) BA46 from any diagnostic cohort.

schizophrenia 1


Input: Following injury, localized translation of RanBP1 stimulates RanGTP dissociation from importins and subsequent hydrolysis, thereby allowing binding of newly synthesized importin-beta to importin-alpha and dynein.

dissociation


Input: Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

IRIDA

IRIDA


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

BDNF

atrophy


Input: This is due to the following: (1) PTH up-regulates c-fos expression in bone cells, (2) IGF is essential for PTH' s anabolic effect, (3) bone lining cells are driven to differentiate into osteoblasts, (4) mesenchymal stem cells adhesion to bone surface is enhanced, (5) PTH has a direct antiapoptotic effect on osteoblasts and (6) when PTH interferes with remodelling, the osteoblasts over-compensate, and (7) PTH also decreases sclerostin levels, thereby removing inhibition of Wnt signalling which is required for PTH' s anabolic actions.

sclerostin

adhesion


Input: Downregulation of TMEM97 through RNA interference inhibited cell proliferation and G1/S transition in two glioma cell lines, U87 and U373.

glioma


Input: To help determine whether a distal 17q gene may also be involved in the pathogenesis of primary Barrett' s esophageal and gastric cardia adenocarcinomas, we performed loss of heterozygosity (LOH) analysis of 21 Barrett' s and 18 gastric cardia adenocarcinomas at loci spanning 17q: cen-BRCA1-SSTR2-D17S2058-D17S929-D17S722-+ + + D17S937-D17S802-tel.

esophageal


Input: We analyzed C609T polymorphism in NQO1 gene in the group of 82 patients (56 adult and 26 children) with different type of hematopoietic malignancies and 99 healthy participants (61 adult and 38 children) using PCR and the RFLP method.

NQO1 gene

hematopoietic malignancies


Input: Genes of the WNT canonical pathway: activating ligands (WNT11, WNT4, WNT5A), binding inhibitors (DKK3, sFRP1), β-catenin (CTNNB1), β-catenin degradation complex (APC, AXIN1, GSK3β), inhibitor of β-catenin degradation complex (AKT1), sequester of β-catenin (CDH1), pathway effectors (TCF7, MAPK8, NFAT5), pathway mediators (DVL-1, DVL-2, DVL-3, PRICKLE, VANGL1), target genes (MYB, MYC, WISP2, SPRY1, TP53, CCND1); calcium dependent pathway (PLCB1, CAMK2A, PRKCA, CHP); and planar cell polarity pathway (PTK7, DAAM1, RHOA) were evaluated by QPCR, in 19 GH-, 18 ACTH-secreting, 21 non-secreting (NS) pituitary tumors, and 5 normal pituitaries.

pituitary tumors


Input: The studies in allergic diseases and atopy are the largest so far, and the association of NOD2/CARDI5 mutations with atopic phenotypes might be an indication that CARD15 also plays a role in the Th2 pathway.

atopic


Input: Surgical procedure (PH, Portal vein stenosis (PVS), bile duct ligation (BDL), spinal cord lesion (SCL)) and treatments (capsaicin, bile acids (BA), oleanolic acid (OA)) were performed on rats and/or wild type or TGR5 (GPBAR1) knock-out mice.

PVS

spinal cord lesion


Input: When BRCA1 PARsylation is defective, it gives rise to excessive HRR and manifestations of genome instability.

genome instability


Input: The boy had hemophilia due to a factor VIII autoantibody and nephrotic syndrome.

factor VIII

nephrotic syndrome


Input: SERPINA3K also prevented the hypoxia-induced decrease of occludin, a tight junction protein, in the OIR rat retina and in cultured retinal capillary endothelial cells and retinal pigment epithelial cells.

occludin

retina

occludin

retina


Input: The characterization herein of nonsense mutations is in keeping with the fact that MCD results from loss of function of the CHST6 protein product.

MCD

MCD


Input: CONCLUSIONS: These results suggest that elevated IGF levels may define a sub-group of women with high mammographic density and limited TDLU involution, two markers that have been related to increased breast cancer risk.

IGF

mammographic density


Input: RESULTS; Whole-genome sequencing revealed a novel, heterozygous 3-kilobase deletion removing exons 7-9 of TP53 in the patient' s normal skin DNA, which was homozygous in the leukemia DNA as a result of uniparental disomy.

uniparental disomy


Input: New mutation of CACNA1A gene in episodic ataxia type 2.

episodic ataxia type 2

episodic ataxia type 2


Input: We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 and 12, and the GAA repeat of the frataxin gene in 124 patients apparently suffering from idiopathic sporadic ataxia, including 20 patients with the clinical diagnosis of multiple system atrophy.

GAA

multiple system atrophy


Input: The maximal induction of HIF-1 in HSC-2 cells was observed 30 h after hypoxia, and VEGF mRNA was expressed after 36 h under hypoxia.

VEGF

hypoxia


Input: Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.

somatostatin receptor-2

convulsions

somatostatin receptor-2

convulsions


Input: We identified a novel loss-of-function Q459R mutation in the CASR gene that exhibits mildly reduced sensitivity to calcium and that is associated with apparent autosomal recessive transmission of FHH.

CASR

FHH

CASR

FHH


Input: The diagnosis is made by the presence of characteristic fundus appearance, identification of a family history, electrooculography abnormalities, and genetic testing for mutations of the BEST1 gene.

BEST1 gene

abnormalities


Input: This may represent a novel means to treat the majority of patients with advanced melanoma, most notably those unable to receive current ACT therapies.

ACT

advanced melanoma


Input: The wild-type 5'-UTR sequence, containing a reported SNP (c.-33G > C) and a known melanoma-predisposing mutation (c.-34G > T), was included as controls.

UTR

melanoma


Input: Here, we used reverse transcription-PCR (RT-PCR) and western blot to detect protease-activated receptor (PAR) 1, PAR 2 and PAR 4 expression in cancer tissues and cell lines of esophageal squamous cell carcinoma, and investigated the co-relationship between PAR expression and clinic-pathological data for esophageal cancer.

PAR

esophageal squamous cell carcinoma


Input: Vitamin D supplementation to vitamin D-deficient elderly suppresses serum PTH, increases bone mineral density and may decrease fracture incidence especially in nursing home residents.

PTH

bone mineral density


Input: Patients carrying homozygous LMP7/TAP2 haplotype C, which contained the glutamine at LMP7 codons 145 and the isoleucine at TAP2 codons 379, were more prone to develop esophageal carcinoma (OR = 2. 96, 95% CI = 1. 13-7. 81, P = 0. 027).

esophageal carcinoma


Input: We investigated both phenotypic and genotypic aspects of apolipoprotein A-I amyloidosis unexpectedly disclosed by liver biopsy in 13 unrelated individuals with asymptomatic, persistent elevation of alkaline phosphatase and gamma-glutamyltransferase levels.

apolipoprotein A-I

asymptomatic


Input: To develop a novel strategy to prevent delayed neuronal death (DND) following transient occlusion of arteries, the gene of hepatocyte growth factor (HGF), a novel neurotrophic factor, was transfected into the subarachnoid space of gerbils after transient forebrain ischemia.

HGF

ischemia


Input: Primary end points were flow-mediated dilation and high-sensitivity C-reactive protein (hs-CRP) levels; secondary end points were lipid and glucose parameters, homeostasis model assessment (HOMA) of insulin sensitivity, endothelial function score, and circulating levels of interleukin (IL)-6, IL-18, and adiponectin.

dilation


Input: Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene.

FA2H gene

childhood onset


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

major depression

major depression


Input: This study indicates that a prominent cannabinoid agonist can increase excitatory circuit activity in the synaptically reorganized dentate gyrus of mice with TLE by activating TRPV1 receptors, and suggests caution in designing anticonvulsant therapy based on modulating the endocannabinoid system.

TLE

TLE


Input: Interleukin (IL)-17A and IL-17F are inflammatory cytokines expressed by a novel subset of CD4 + Th cells and play critical function in inflammation and probably in cancer.

inflammation


Input: Unexpectedly, inhibition of ROS by either N-acetyl-L-cysteine (NAC), a peroxide inhibitor, or Tempol, a superoxide inhibitor, increased the annexin V-/propidium iodide (PI) + early necrotic population in TRAIL-treated cells.

NAC

necrotic


Input: We found that the beta (2) AR arg (16)--> gly substitution and two non-coding ADCY6 polymorphisms were associated with elevated adhesion.

adhesion


Input: Three weeks after MSC injection, significant increases were observed in the vascular density (235. 5 ± 39. 6/mm (2) vs. 147. 4 ± 20. 3/mm (2), p < 0. 001) and the cardiac myosin-positive area (21. 7% ± 8. 4% vs. 13. 2% ± 4. 4%, p < 0. 001) of the infarct border zone.

MSC

infarct


Input: The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects.

von Willebrand factor

essential hypertension


Input: We tested the hypothesis that topical (eye drop) SRPK1-selective inhibitors could be generated that reduce pro-angiogenic isoforms, and prevent choroidal neovascularization in vivo.

choroidal neovascularization


Input: In the present study, the kinetics of neutrophil membrane CD64 expression were examined during a standardized inflammatory response, using a human endotoxemia model, and compared with hematological indices, CRP, cytokines and interleukins.

endotoxemia


Input: miR-1202 is a primate-specific and brain-enriched microRNA involved in major depression and antidepressant treatment.

major depression

major depression


Input: Analysis by FACS demonstrated a subset of cells in both cell lines reacting with VG1 and analysis of secreted VEGF (pg/ml per 1x10 (6) cells) in cell culture supernatant confirmed the normoxic production in both cell lines and significant hypoxic induction (p < 0. 005).

VEGF

hypoxic


Input: These findings indicate that over-expression of MKP-1 could suppress neuronal death possibly through regulating JNK signaling in vitro and be a prominent neuroprotective target for the treatment of acute cerebral infarction.

cerebral infarction


Input: These findings indicate that hypoxia-responsive microRNA-377 directly targets VEGF in MSCs, and knockdown of endogenous microRNA-377 promotes MSC-induced angiogenesis in the infarcted myocardium.

VEGF

hypoxia


Input: It also leads to features associated with breast-cancer-initiating cells: increased CD24 (low)-CD44 (high) population of cells, mammosphere formation and tumorigenesis.

tumorigenesis


Input: The present study revealed a significant increase in c-Fos protein expression in the cortex and thalamus of mice showing naloxone-precipitated withdrawal syndrome.

c-Fos

withdrawal syndrome

c-Fos

withdrawal syndrome


Input: Eligible patients had 1st, 2nd or 3rd recurrence of glioblastoma with measurable tumor on MRI and no prior anti-angiogenic therapy.

MRI

glioblastoma


Input: In this study, we analyzed esophageal squamous cell carcinoma (ESCC) cell lines and primary ESCCs as well as normal esophageal tissues for DCC methylation by bisulfite sequencing, methylation-specific PCR (MSP) and/or quantitative methylation-specific PCR (qMSP).

MSP

esophageal


Input: A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

erythrocyte AMP deaminase deficiency

erythrocyte AMP deaminase deficiency


Input: HIPK2 expression was also negatively correlated with aggressiveness of basal cell carcinoma; high-risk subtypes showed lower HIPK2 expression than did low-risk subtypes (P < 0. 001).

basal cell carcinoma


Input: Many of the abnormalities seen in the Mx1-Cre mice, such as hyperkeratosis characterized by profound scaling of feet and tail, could also be detected in tamoxifen-inducible Cre mice.

hyperkeratosis


Input: We also comment on the utility of small-molecule MCHR1 antagonists for the treatment of obesity and affective disorders compared to existing therapies and provide a critical overview of the potential risks.

affective disorders

affective disorders


Input: This is the first report that Tipα is a new inducer of EMT, probably associated with tumor progression in human gastric carcinogenesis.

EMT

tumor progression


Input: The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations.

respiratory alkalosis


Input: These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.

Dejerine-Sottas syndrome

Dejerine-Sottas syndrome


Input: However, when the cells were cultured under hypoxic conditions, a strong increase in VEGF mRNA could be seen in Y79 cells but not in OM431 cells.

VEGF

hypoxic


Input: Revisiting liver disease progression in HIV/HCV-coinfected patients: the influence of vitamin D, insulin resistance, immune status, IL28B and PNPLA3.

insulin resistance


Input: To understand the contribution of the t (8; 21) to AML, we transduced purified hematopoietic stem cells (HSC) with a retroviral vector that coexpressed AML1-ETO or just the AML1 portion (AML1d) of the translocation along with a green fluorescent protein reporter gene.

translocation


Input: IMPA2 is likely to be an FS susceptibility gene.

FS

FS


Input: SRY molecules containing mutations associated with human sex reversal have altered structural interactions with DNA and failed to induce transcription of MIS.

MIS

sex reversal


Input: These results suggest that the CUL3-KLHL3 E3 ligase complex regulates blood pressure via its ability to interact with and ubiquitylate WNK isoforms.

blood pressure


Input: In the present study, the gene expression profile of hypoxia-related genes (HIF1A, CA9, VEGF and SCL2A1) was evaluated in bone marrow samples of 113 pediatric patients.

VEGF

hypoxia


Input: Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait.

MCH

mean corpuscular hemoglobin


Input: The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature.

SHOX

tall stature


Input: Our findings demonstrate that FISH analysis is useful to clarify the nature of the disease in patients presenting with a B cell leukaemia in which the diagnosis is difficult by conventional methods.

FISH

leukaemia


Input: We studied promoter region polymorphisms in the tumor necrosis factor (TNF), interleukin (IL)-6, IL-10, and transforming growth factor (TGF)-beta1 genes in Japanese patients with multiple system atrophy (MSA) (n = 122) and normal controls (n = 277).

TNF

multiple system atrophy


Input: Neuropeptide Y (NPY), a 36-amino-acid neuromodulator abundantly expressed in the brain, has been implicated in the regulation of food intake and body weight.

NPY

body weight


Input: In conclusion, elevated serum preptin and decreased osteocalcin concentrations, together with insulin resistance, are associated with obesity and overweight.

preptin

insulin resistance


Input: As VEGF can substitute for M-CSF to support osteoclastogenesis in the presence of receptor activator for nuclear factor kappaB ligand (RANKL), we assessed the effect of MG-63 hypoxic conditioned media on osteoclast differentiation.

M-CSF

hypoxic


Input: These symptoms are characteristic of idiopathic infantile hypercalcemia (IIH, MIM 143880).

MIM

infantile hypercalcemia


Input: Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Acrofacial Dysostosis, Cincinnati Type

Acrofacial Dysostosis, Cincinnati Type


Input: Upright posture affects histologic changes of the cervical IVDs such as fissures of anulus fibrosus and decreased height of disc, decreased protein level of Col2a1 at nucleus pulposus and anulus fibrosus, up-regulated MMP-13, MMP-3, ADAMTS-5, and type X collagen mRNA expression, and downregulated mRNA expression of Col2a1 and aggrecan.

height


Input: Decreased infarct size and reduced fibrosis were observed in the ILK-MSC-CM group.

ILK

infarct


Input: CYP2A6 plays a key role in nicotine metabolism and oxidative stress in astrocytes, and this has implications in nicotine-associated brain toxicity.

brain

brain


Input: Chromatin immunoprecipitation (ChIP) and re-ChIP assays revealed that hypoxia up-regulated the occupancies of Brg1 and Brm on CAM promoters in a nuclear factor κB (NF-κB)-dependent manner.

hypoxia


Input: Proteinase-activated receptor-1 (PAR-1) and PAR-2 have been associated with increased invasiveness and metastasis in human malignancies.

PAR

metastasis


Input: A similar effect was also observed with endogenous VEGFA induced by TGF-β1 and hypoxia.

VEGFA

hypoxia


Input: In contrast, loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against T2D, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention.


Input: Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.

β-catenin

hyperoxia


Input: Body mass index, waist circumference, blood pressure, plasma total cholesterol, triglycerides, HDL cholesterol and fasting glucose were measured with standard methods, genotyping the I/D polymorphism of ACE gene.

ACE gene

waist circumference


Input: The results also showed that the transfection efficiency of PST/pEGFP nanoparticles into malignant melanoma A375 cell increased, and PST carrying PUMA gene induced the apoptosis of A375 cells.

PST

malignant melanoma


Input: RRP22 (Ras-related protein on chromosome 22) has been suggested as a candidate tumor suppressor in human cancers.

cancers


Input: These findings suggest that SE may induce impairments of astroglial AQP4 functions via disruption of the dystrophin/& #945;-syntrophin complex that worsen vasogenic edema.

SE

SE


Input: Here, we describe a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense (p. Ser228Ile) sequence alteration of the proliferating cell nuclear antigen (PCNA).

PCNA

telangiectasia


Input: The cutaneous malignant tumor dermatofibrosarcoma protuberans (DFSP) is typically associated with a translocation between chromosomes 17 and 22 that places the platelet-derived growth factor-B (PDGFB) under the control of the collagen 1A1 promoter.

PDGFB

translocation


Input: Indeed, we observed a significant reduction of NMDA-induced field excitatory postsynaptic potential depression in the hippocampus of Tau mice together with a reduced phosphorylation of NR2B at the Y1472, known to be critical for NMDAR function.

depression

depression


Input: Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.

PDGF-A chain

carcinomas

PDGF-A chain

carcinomas


Input: RIM/DS analysis of 28 polyclonal lymphomas identified 771 common insertion sites (CISs) defining a' progression network' that encompassed a remarkably large fraction of known MoMLV target genes, with further strong indications of oncogenic selection above the background of MoMLV integration preference.

RIM

lymphomas


Input: An in vitro experiment using two gastric cancer cell lines, MKN-74 and NUGC-3, showed that the expression levels of AdipoR1 and AdipoR2 were significantly decreased by transforming growth factor (TGF)-β in a dose-dependent manner.

gastric cancer


Input: We describe the analysis of the chromosome breakpoints in a patient with congenital bilateral isolated ptosis and a de novo balanced translocation 46, XY, t (1; 8) (p34. 3; q21. 12).

ptosis


Input: Here we show that ING5 overexpression in lung cancer A549 cells inhibited cell proliferation and invasiveness, while ING5 knockdown in lung cancer H1299 cells promoted cell aggressiveness.

aggressiveness


Input: Previously, we demonstrated that a single bolus of E2 48 hr prior to ischemia protected the hippocampus from damage in ovariectomized rats via phosphorylation of cyclic-AMP response element binding protein, which requires activation of estrogen receptor subtype beta (ER-β).

ER-β

ischemia


Input: Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

prion protein

Creutzfeldt-Jakob disease

prion protein

Creutzfeldt-Jakob disease


Input: This is the first report of a germ line SUFU mutation associated with GS.

SUFU

GS

SUFU

GS


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

pinguecula


Input: The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.

CFH gene

dry


Input: Here, we show that CST6 is robustly expressed in normal human prostate epithelium, whereas its expression is downregulated in metastatic prostate cell lines and prostate tumor tissues.

prostate tumor

prostate tumor


Input: We detected expression of SHH, patched, GLI1, GLI2 and GLI3 in the ameloblastoma specimens and AM-1 cells.

ameloblastoma


Input: Taken together, these results and the presence of kappaB sites on gene promoter of cyclin D1, MMPs and, possibly, E-cadherin suggest that VIP may act as a cytokine in an early metastatic stage of human prostate cancer through the NF-kappaB/MMPs-RECK/E-cadherin system.

VIP

prostate cancer

VIP

prostate cancer


Input: We examined INK4A promoter methylation using circulating cell-free DNA (ccfDNA) in a total of 109 serum specimens, including 66 HCC and 43 benign chronic liver diseases.

HCC

liver diseases


Input: Taken together, our data define a novel link between DAPK and HSF1 and highlight a positive-feedback loop in DAPK regulation under mild inflammatory stress conditions in colorectal tumors.

DAPK

mild


Input: A polymorphism exon 1 variant at the locus of the scavenger receptor class B type I (SCARB1) gene is associated with differences in insulin sensitivity in healthy people during the consumption of an olive oil-rich diet.

insulin sensitivity


Input: Furthermore, the RER + sporadic colorectal tumors were evaluated at trinucleotide repeats within the genes for N-cadherin and B-catenin; no tumors demonstrated mutation of these genes.

N-cadherin

colorectal tumors


Input: In the present study, we sought to determine the role of XB130 in the tumorigenesis in vivo and in related molecular mechanisms.

tumorigenesis


Input: Real-time reverse-transcriptase PCR and MSP were also performed on esophageal cancer cell lines before and after treatment with 5-aza-2'-deoxycytidine (5-Aza-dC).

MSP

esophageal cancer


Input: Neuroprotective actions of vitamin C related to decreased lipid peroxidation and increased catalase activity in adult rats after pilocarpine-induced seizures.

catalase

seizures

catalase

seizures


Input: We observed down-regulation of phospholemman (a phosphoprotein associated with anion channel formation) messenger RNA and protein levels in layer II/III stellate neurons in the population with schizophrenia.

phospholemman

schizophrenia

phospholemman

schizophrenia


Input: Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin.

adenovirus


Input: Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.

FUS

sporadic


Input: To investigate whether polymorphisms in the genes regulating these two systems may alter susceptibility to anxiety disorders in humans, we genotyped 71 single nucleotide polymorphisms (SNPs) in CRH, CRHR1, CRHR2, AVP, AVPR1A, AVPR1B in a German sample from Munich with patients suffering from panic disorder and matched healthy controls (n = 186/n = 299).

panic disorder


Input: In the current study, we investigated the ability of bone marrow transplantation with MGMT-P140K-transduced hematopoietic cells to protect against an intensive antitumor treatment regimen of combination BG and BCNU in non-obese diabetic/severe combined immunodeficient (NOD/SCID) mice.

MGMT

obese


Input: The AML1 gene, situated in 21q22, is often rearranged in acute leukemias through t (8; 21) translocation, t (12; 21) translocation, or less often t (3; 21) translocation.

translocation


Input: This fact suggests that alterations of LKB1/STK11 occur relatively early in tumorigenesis and are rarely involved in the development of carcinoma metastases.

tumorigenesis


Input: We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity.

obesity

obesity


Input: We further examined 19 HNPCC carcinomas with microsatellite instability for mutations in a (G) 7 repeat site within CDX2.

microsatellite instability


Input: The present study discovered that heat shock cognate 70 (Hsc70) is essential in both the surface translocation and the angiogenic function of NCL.

translocation


Input: In conclusion, data from the present study demonstrated that loss of S100A2 expression contributes to gastric cancer development and progression; therefore, the determination of S100A2 expression levels may help to predict the carcinogenesis and aggressiveness of gastric cancer as well as patient survival.

aggressiveness


Input: These findings define a set of genes, FKBP10, PLOD2 and SERPINH1, that act during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result.

bone mass


Input: We have identified a PSACH patient carrying a novel mutation in exon 18 of COMP that composes the C-terminal globular domain.

COMP

PSACH

COMP

PSACH


Input: Our results demonstrate that factors involving low-grade inflammation modulate MFAP5 expression and that the modified expression of MFAP5 may further regulate AT inflammation.

inflammation


Input: Knockout mice lacking the cardiac-type Jph2 die of embryonic cardiac arrest, and the mutant cardiac myocytes exhibit impaired formation of peripheral couplings and arrhythmic Ca2 + signaling caused by functional uncoupling between dihydropyridine and ryanodine receptor channels.

cardiac arrest


Input: It has recently been shown that the t (12; 21) (p13; q22) translocation fuses two genes, TEL on chromosome 12 and AML1 on chromosome 21.

translocation


Input: Among the several genetic abnormalities involved in MALT development, the impact of t (14; 18)-(IgH; Bcl-2) translocation has only been marginally analyzed.

translocation


Input: In transient transfections, a luciferase reporter construct containing a 1. 2-kb fragment of the VEGF promoter, lacking the known hypoxic-responsive element (HRE), showed up-regulation after EGF stimulation to the same degree as the full-length, 1. 5-kb VEGF promoter construct retaining the HRE.

VEGF

hypoxic


Input: On the other hand, an A to G substitution at codon 170 in exon 5 of p53 gene resulting in glutamic acid (ACG) to glycine (GCG) was detected in the DNA of her tongue cancer.

ACG

tongue cancer


Input: In the present study, to examine the effect of GIP on periodontitis, we induced experimental periodontitis in glucose-dependent insulinotropic polypeptide receptor-knockout mice (GIPRKO).

GIP

periodontitis


Input: Increased transglutaminase 2 and GLUT-1 expression in breast tumors not susceptible to chemoprevention with antioxidants.

transglutaminase 2

breast tumors

transglutaminase 2

breast tumors


Input: Significant associations were detected between reduced expression of miR-143, miR-203 and low social status, and combination of smoking and heavy drinking.

heavy drinking

heavy drinking


Input: In contrast, tumor cells with non-activated alpha (v) beta (3) depend on hypoxia for VEGF induction, resulting in reduced angiogenesis, tumor cell apoptosis, and inefficient intracranial growth.

VEGF

hypoxia


Input: VIIc is correlated with hyperlipidaemia and influenced by a polymorphism of the factor VII gene and could contribute to thrombotic risk in patients with renal disease.

factor VII

renal disease


Input: Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).

asymptomatic


Input: LKB1 has now been demonstrated to play a crucial role in pulmonary tumorigenesis, controlling initiation, differentiation, and metastasis.

tumorigenesis


Input: Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.

hyperalgesia

hyperalgesia


Input: In contrast, it may actively promote tumor progression and cancer cell dissemination by inducing a gradual switch from epithelial towards mesenchymal-like cell features (EMT-like), including decreased intercellular adhesion.

EMT

tumor progression


Input: Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

juvenile myelomonocytic leukemia

juvenile myelomonocytic leukemia


Input: After adjustment for age, body mass index, and hsCRP level, GSTM1-null and GSTT1-null genotypes were found to be independent risk factors for the development of EAH in Slovenian patients with type 2 diabetes.

body mass index


Input: Group A streptococcus (GAS) is a leading cause of severe, invasive human infections, including necrotizing fasciitis and toxic shock syndrome.

GAS

toxic shock syndrome


Input: PTPN12 promotes resistance to oxidative stress and supports tumorigenesis by regulating FOXO signaling.

tumorigenesis


Input: TSA has the potential to treat corneal scarring in vivo.

TSA

corneal scarring


Input: Analysis of hypoxia-induced gene expression revealed that PLD2 deficiency disrupted the upregulation of hypoxia-inducible factor-1α target genes, including VEGF, PFKFB3, HMOX-1, and NTRK2.

VEGF

hypoxia


Input: Ultrastructural analysis of the RPE cells, suggests that the giant melanosomes may form by abnormal growth of single melanosomes, rather than the fusion of several, shedding light on the pathogenesis of ocular albinism.

RPE

giant


Input: Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Bjornstad syndrome

Bjornstad syndrome


Input: These data suggest that a simple algorithm based on patient age, height, and TNF genotype could be used to predict the individual' s risk of symptomatic neuropathy prior to prescription of d4T.

TNF

height


Input: We show for the first time that RPE65 normally undergoes a light-dependent translocation to become more concentrated in the central region of the RPE cells.

RPE

translocation


Input: Loss-of-function in orthologous RRAS pathway members also suppressed motor dysfunction in a Drosophila model of Huntington' s disease.

RRAS

motor dysfunction


Input: Thirty-five patients (23 males and 12 females), age 35 +/-13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5.

calcium nephrolithiasis


Input: Importantly, while ASC deficiency did not affect normal cerebellar development, ASC knockout mice on the Smoothened (ND2: SmoA1) transgenic model of medulloblastoma exhibited a profound reduction in medulloblastoma incidence and a delayed tumor onset.

ASC

medulloblastoma


Input: The potent vasoconstrictor peptides, endothelin 1 (ET-1) and angiotensin II control adaptation of blood vessels to fluctuations of blood pressure.

endothelin 1

blood pressure


Input: The angiotensin I-converting enzyme gene insertion/deletion (I/D) polymorphism, angiotensinogen gene M235T polymorphism and angiotensin II type 1 receptor gene A1166C polymorphism were determined in 83 male Caucasian endurance athletes and associated with left ventricular mass.

angiotensin I-converting enzyme

left ventricular mass


Input: Therefore we postulate that abnormal expression of MRC genes may facilitate electron " leakage " to promote the production of ROS and accumulation of genomic instability in LSCs in imatinib-naive and imatinib-treated patients.

MRC

genomic instability


Input: Adiponectin attenuates lung fibroblasts activation and pulmonary fibrosis induced by paraquat.

Adiponectin

pulmonary fibrosis

Adiponectin

pulmonary fibrosis


Input: Recently, a sulfonylurea receptor (SUR) has been cloned from an islet cell tumor and identified as a member of the ATP binding cassette superfamily capable to coupling with inwardly rectifying potassium channels.

SUR

islet cell tumor


Input: Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy.

MIM

neurological disorder


Input: MFG-E8 mRNA and protein expression was lower in ulcerative colitis patients than in controls.

ulcerative colitis


Input: A significant T cell response was measured in NOD/scid-DR1 mice engrafted with human cord blood cells.

scid


Input: The 24-h EE per kilogram of LBM for the subjects with CGL-1 falls on the same regression line observed for this relationship in the controls.

regression


Input: Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q.

atrophy


Input: Luteolin suppressed hypoxia-induced VEGF expression via attenuating hypoxia inducible factor 1 α expression.

VEGF

hypoxia


Input: Here, we report that human malignant glioma cell lines express XIAP, HIAP-1 and HIAP-2 mRNA and proteins.

malignant glioma


Input: Adrenomedullin (ADM) is an angiogenic peptide that has been shown to increase the risk of endometrial hyperplasia and to promote tumor cell survival following hypoxia.

ADM

hypoxia


Input: In hypoxia conditions, stabilized hypoxia-inducible factor 1α (HIF1A) is the key regulator for transcriptional activation of VEGFA.

VEGFA

hypoxia


Input: Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations.

pontocerebellar hypoplasia type 1

pontocerebellar hypoplasia type 1


Input: These findings advocate for the development of selective inhibitors of histone deacetylase 2 and suggest that cognitive capacities following neurodegeneration are not entirely lost, but merely impaired by this epigenetic blockade.

histone deacetylase 2

neurodegeneration


Input: miR-181a is a hypoxia-regulated microRNA that is overexpressed in chondrosarcoma and enhances VEGF expression, an effect that could be inhibited by anti-miR-181a.

VEGF

hypoxia


Input: In vivo, MCF7 cells expressing mts1 were associated with tumors exhibiting necrosis, and abundant fibrous and poorly cellular stroma.

necrosis


Input: We investigated whether and how miR-20b can regulate the expression of vascular endothelial growth factor (VEGF) in MCF-7 breast cancer cells under normoxic and hypoxia-mimicking conditions (CoCl (2) exposure).

VEGF

hypoxia


Input: The expression of GFRα1 and GFRα3, but not SDC3, was significantly increased in mammary carcinoma and positively associated with tumor lymph node metastases, higher clinical stage and HER-2 positivity.

lymph node metastases


Input: Ultrastructurally, the same two types of neurites are found in plaques from APP (SW)/Tau (VLW) and Alzheimer disease (AD) brains: (a) dystrophic giant neurites filled with degenerating organelles and/or phospho-tau-positive filaments and (b) non-dystrophic phospho-tau-positive small punctiform neurites.

APP

giant


Input: Further study of the immunomodulatory effects of protein C may be warranted using mutant forms with decreased bleeding potential.

protein C

bleeding


Input: We confirmed the presence of germline mutations in both her folliculin (FLCN) and adenomatous polyposis coli (APC) genes.

FLCN

adenomatous polyposis coli


Input: The much lower frequency of EZH2 mutation in cases without BCL2 translocation suggests a different pattern of evolution of this subtype of follicular lymphoma.

translocation


Input: Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.

IFN

hemorrhage


Input: Complicated sigmoid diverticulitis was significantly associated with high H1R and H2R expression (p < 0. 001).

diverticulitis


Input: Total RNA from 16 pancreatic tumors, 10 chronic pancreatitis tissues, 7 normal pancreas tissues, and 15 pancreatic tumor cell lines were analyzed by reverse transcription-PCR with primers specific for MUC1, MUC2, MUC3, MUC4, MUC5AC, MUC5B, MUC6, and MUC7 genes and by RNA slot blot analyses.

chronic pancreatitis


Input: However, the up-regulation of adhesion and co-stimulatory molecules was associated with increased stimulatory capacity in MLC and enhanced sensitivity to NK cells.

MLC

adhesion


Input: Moreover, we proved that the anti-apoptotic activity of amphiregulin, a protein that was significantly over-expressed in non-responders but undetectable in responders, leads to resistance of NSCLC cells to gefitinib in vitro.

amphiregulin

NSCLC

amphiregulin

NSCLC


Input: We therefore screened recessive dystrophic epidermolysis bullosa patients for COL7A1 mutations.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: The BCL-2 gene responsible for blocking of programmed cell death is highly expressed in a number of haematological malignancies, both with and without the t (14; 18) translocation.

BCL-2 gene

translocation


Input: Some of the pathways identified suggest avenues for pharmacotherapy of alcoholism with existing agents, such as angiotensin-converting enzyme (ACE) inhibitors.

angiotensin-converting enzyme

alcoholism

angiotensin-converting enzyme

alcoholism


Input: Sputum macrophages had increased expression of KAT2B in eosinophilic compared with paucigranulocytic asthma.

asthma


Input: ACE2 overexpression had no effect on insulin sensitivity in comparison with Ad-eGFP treatment in diabetic mice.

insulin sensitivity


Input: This unique pattern of effects suggests that mesolimbic 5-HT (1B) Rs differentially modulate cocaine abuse-related behaviors, with a facilitative influence during periods of active drug use, in striking contrast to an inhibitory influence during protracted withdrawal.

5-HT (1B

cocaine abuse

5-HT (1B

cocaine abuse