Input: Here we show that in fibroblasts, GRK2 is able to increase ATP cellular content by enhancing mitochondrial biogenesis; also, it antagonizes ATP loss after hypoxia/reperfusion.

hypoxia


Input: The introduction of the glucokinase transgene in insulin receptor null mice did not prevent the development of glycosuria.

insulin receptor

glycosuria


Input: There was a 2. 73 times (95% CI: 1. 32 approximately 5. 64) increased risk of silicosis for individuals with C allele of NRAMP1 INT4 compared with individuals carrying homozygote (G/G), while SNPs of NRAMP1 D543N was not associated with PTB (P > 0. 05).

PTB

silicosis


Input: Notably, Ras-induced nuclear accumulation of activated MEK1/2 was reliant on downregulation of the spatial regulator Sef, the reexpression of which was sufficient to restore normal MEK1/2 localization and a reversal of Ras-induced proliferation and tumorigenesis.

tumorigenesis


Input: The increase in CSF levels of lactate dehydrogenase (LDH), glucose-6-phosphate isomerase (G6PI), and fructose-bisphosphate aldolase A (ALDOA) were validated on a larger group of sCJD patients including three possible codon 129 polymorphism carriers and three control groups consisting of nondemented, neurological cases as well as patients suffering from Alzheimer' s disease or vascular dementia.

ALDOA

vascular dementia


Input: Previous in vitro experiments demonstrated that Skp2, an E3 ubiquitin ligase aberrantly overexpressed in PCa, is involved in the proteolytic degradation of BRCA2 in PCa cells, suggesting that the BRCA2-Skp2 interaction may play a role in prostate tumorigenesis.

tumorigenesis


Input: BX795 inhibition of TBK1 impaired MVNP-induced IL-6 expression in both NIH3T3 cells and BMM, and shRNA knockdown of Tbk1 in NIH3T3 cells impaired IL-6 secretion induced by MVNP and decreased TAF12 and ATF7, factors involved in 1, 25 (OH) 2 D3 hypersensitivity of pagetic osteoclasts.

hypersensitivity


Input: Loss of heterozygosity detected using chromosome 13q markers in the vicinity of BRCA2 is observed in most cancers arising in carriers of germline BRCA2 mutations and also in 30-50% of sporadic breast and ovarian cancers.

sporadic


Input: IL-4 deficiency greatly reduced, but did not eliminate, TSLP-induced airway hyperresponsiveness, airway inflammation, eosinophilia, and goblet cell metaplasia, while Stat6 deficiency eliminated these asthma-like symptoms.

inflammation


Input: Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.

EDA

hypohidrotic ectodermal dysplasia

EDA

hypohidrotic ectodermal dysplasia


Input: GRIK2 has been implicated in mood disorders, and editing of its I/V site can modulate Ca (+ 2) permeability of the channel, consistent with numerous observations of elevated intracellular Ca (+ 2) levels in BPD patients.

mood disorders

mood disorders


Input: All affected children had megaloblastic anemia accompanied by low serum B12 and normal serum folate levels.

megaloblastic anemia


Input: Missense mutations account for approximately 70% of the mutations in GS, and there is a predisposition to large rearrangements caused by the presence of repeated sequences within the SLC12A3.

GS

GS


Input: Our studies indicate that sulforaphane (SFN) enhances temozolomide (TMZ)-induced apoptosis because of down-regulation of miR-21 through Wnt/β-catenin signaling in glioblastoma (GBM) cells.

SFN

glioblastoma


Input: However, it might not be sensitive enough to monitor longitudinal intrapatient viremia during STIs in patients with high CD4 (+)-T-cell counts potentially due to the production of high-affinity anti-p24 antibodies and clearance of immune complexes by erythrocytes.

viremia


Input: Thus, although prenatal alcohol had only small effects on DNA methylation at the Igf2 locus, placing dams on a methyl-supplemented diet partially ameliorated ethanol teratogenesis.

teratogenesis


Input: In areas of lymphohistiocytic infiltration, mainly consisting of CD3 + CD4 + T cells and CD11c +, CD4 +/-, S100p + interstitial dendritic cells, and in areas of initial fibrosis, acini and ducts were HLA-DR +, acini CD95 +/CD95L-, and ducts CD95 +/CD95L-.

fibrosis


Input: The mean TRF length was decreased gradually with age in normal mucosa and in gastric cancer tissue.

TRF

gastric cancer


Input: In the control, immunofluorescence reactivity of DSCAM was detected in dentate gyrus granule cells and CA4 neurons but decreased after ischemia, being compatible with the immunoblotting data.

DSCAM

ischemia


Input: We found a significant increase in the production of the SEB-induced cytokines interleukin (IL)-5 and IL-13 in the patient group when compared with non-atopic, healthy controls.

atopic


Input: The promoter methylation of DAPK1, FHIT, MGMT, and CDKN2A was investigated by using a methylation-specific polymerase chain reaction in 53 specimens of cervical cancer (42 squamous cell carcinoma, 11 adenocarcinoma), 22 specimens of intraepithelial neoplasia tissues, and 24 control normal cervical tissue specimens.

MGMT

intraepithelial neoplasia


Input: This overgrowth syndrome caused by a gain-of-function mutation at NPR2 should be differentiated from Marfan or related syndromes, and may be categorized along with the overgrowth syndrome caused by overproduction of CNP due to its phenotypical similarity as overgrowth CNP/NPR2 signalopathy.

overgrowth


Input: Expression of proapoptotic Bax, antiapoptotic Bcl-2 and Bcl-xL, nuclear proliferation protein MiB-1, and hypoxia-inducible factor 1alpha (Hif-1alpha) in peri-ischemic areas of the embolized angiofibromas was also assessed.

Bcl-xL

angiofibromas


Input: By contrast, resveratrol, when applied for 7 days before MCAO onset, significantly reduced infarct volumes and enhanced neurological scores at 24 h after reperfusion, and these results were accompanied by elevated TRPC6 and p-CREB activity and decreased calpain activity.

infarct


Input: Organ-specific differences in epidermal growth factor receptor (EGFR) mutational spectra and frequencies were found in lung cancer and sporadic and BRCA1/2-related breast cancers.

EGFR

sporadic


Input: DACH1 blocked YB-1-induced mammary tumor growth and EMT in mice.

EMT

mammary tumor


Input: The AIM-2-reactive T-cell clone recognized a number of neuroectodermal tumors as well as breast, ovarian, and colon carcinomas that expressed HLA-A1, indicating that this represents a widely expressed tumor antigen.

AIM

carcinomas


Input: Together, these data suggest a role for GIP not only as an incretin hormone but also as a trigger of inflammation and insulin resistance in adipose tissue.

GIP

insulin resistance


Input: Moreover, our results demonstrate that the variable manifestation of CESD can be explained by mutation-dependent, variable inactivation of the LAL enzyme.

LAL

CESD

LAL

CESD


Input: Although the overall frequency of mutations in TP53 and KRAS2 is similar, MSI positive tumors are less likely to have mutations in both genes than MSI negative sporadic endometrial carcinomas.

sporadic


Input: The expression of ARF4L mRNA was elevated at 12 h after hypoxia exposure, similarly to HSP70.

hypoxia


Input: Ten of these 11 patients (91%) with maculopathy had a mutation in the VMD2 gene, of whom 8 were clinically diagnosed as having Best disease and 2 were diagnosed as having possible Best maculopathy.

Best disease

Best disease


Input: Results showed that (1) B7-H1 expression and mRNA are augmented in cells of HIV patients; (2) increased IL-10 production in these patients is largely induced by B7-H1-expressing CD14 (+) cells; (3) an inverse correlation is detected between B7-H1 expression and CD4 counts, whereas the up-regulation of B7-H1 is directly associated with HIV plasma viremia; (4) antiviral therapy results in the parallel down modulation of IL-10 production and B7-H1 expression/synthesis; and (5) B7-H1/CD80 and B7-H1/CD86 mRNA ratios are increased in peripheral blood mononuclear cells (PBMCs) of HIV patients compared with HCs.

viremia


Input: The aim of the current study was to investigate whether and at what stage promoter hypermethylation of SST is involved in human esophageal carcinogenesis.

SST

esophageal


Input: These results demonstrate 1) heterogeneous effects of purinergic agonists on corporeal function in diabetic rats, and 2) the activation of P2Y1 and P2Y2 receptor relaxation of corpus cavernosum smooth muscle to induce erection in rats and perhaps improve erectile function in men with diabetes.

diabetes


Input: Eight SNPs (rs3746444T > C in hsa-mir-499, rs4919510C > G in hsa-mir-608, rs13299349G > A in hsa-mir-3152, rs12220909G > C in hsa-mir-4293, rs2168518G > A in hsa-mir-4513, rs8078913T > C in hsa-mir-4520a, rs11237828T > C in hsa-mir-5579, and rs9295535T > C in hsa-mir-5689) were analyzed in a southern Chinese population with 576 patients with lung cancer, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively.

lung cancer


Input: In BRCA2-associated compared to sporadic patients, first DM more commonly occurred in lymph nodes (23% vs. 7%; P = 0. 007) and at multiple sites (48% vs. 32%; P = 0. 08).

sporadic


Input: The 22q13. 3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features.

MIM

neonatal hypotonia


Input: Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Congenital Disorder of Glycosylation with Defective Fucosylation

Congenital Disorder of Glycosylation with Defective Fucosylation


Input: LPS and LAM activation of the U373 astrocytoma cell line: differential requirement for CD14.

astrocytoma


Input: CD49f and CD61 identify Her2/neu-induced mammary tumor-initiating cells that are potentially derived from luminal progenitors and maintained by the integrin-TGFβ signaling.

mammary tumor


Input: A total of 213 cases of HCC were examined by fluorescent in situ hybridization using dual color break-apart ALK probes for the detection of chromosomal translocation and gene copy number gain.

HCC

chromosomal translocation


Input: In the current study, we have expanded our previous studies to examine the protein and mRNA expression of two novel GABAA receptors, theta (GABR & #952;) and rho 2 (GABR & #961; 2) as well as FMRP, and metabotropic glutamate receptor 5 (mGluR5) in lateral cerebella of subjects with schizophrenia, bipolar disorder, major depression and healthy controls, and in superior frontal cortex (Brodmann Area 9 (BA9)) of subjects with schizophrenia, bipolar disorder and healthy controls.

FMRP

major depression

FMRP

major depression


Input: Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve.

left ventricular noncompaction

left ventricular noncompaction


Input: Our findings provide insight into TDP-43-mediated cytotoxicity and suggest that decreasing Dbr1 activity could be a potential therapeutic approach for ALS.

ALS

ALS


Input: Weight loss decreases the expression of the tenomodulin (TNMD) mRNA in the adipose tissue, and the expression level is strongly correlated with body mass index.

TNMD

body mass index


Input: To evaluate the mechanism of fractalkine (FKN)/CX3 CL1 synthesis and shedding in rheumatoid arthritis synovial fibroblasts (RASFs) and in rat adjuvant-induced arthritis (AIA).

rheumatoid arthritis


Input: An & #945;-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.

hereditary diffuse gastric cancer

hereditary diffuse gastric cancer


Input: We observed that VEGF regulates vascular permeability, monocyte infiltration, and scar-associated macrophages function.

VEGF

scar


Input: Total RNA was extracted from 16 urogenital cancer cells (including PSA-producing LNCaP cells) from pelvic and inguinal lymph node aspiration biopsy samples from patients with prostate, bladder, and penile cancer, as well as from blood samples of 500 patients with urogenital cancer.

PSA

urogenital cancer


Input: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta.

enamel renal syndrome

enamel renal syndrome


Input: In metastatic breast cancer cells, TLR4 signaling increased the expression of integrin αvβ3 by activating NF-κB, resulting in the increased adhesion capacity of tumor cells to the ligand for αvβ3, and the increased polymerization of actin and production of MMP-9 in tumor cells in response to ECM.

NF-κB

adhesion


Input: Immunohistochemistry with the same antibody showed signal translocation from the physiologic perinuclear compartment observed in glia and unrelated osteoblasts to nuclei of tumor cells, consistent with the likely function of EWSR1-CREB3L1 as a transcriptional regulator predicted by its structure.

translocation


Input: EGF was used to stimulate HKESC-1 cells, an esophageal squamous cancer cell line, in which beta-adrenoceptor activity was monitored by measuring intracellular cAMP levels in the absence or presence of beta-adrenoceptor antagonists.

EGF

esophageal


Input: Interestingly, the association of P479L with HDL-cholesterol was still significant after correcting for body mass index (BMI), percentage body fat (PBF), or waist circumference (WC).

PBF

body mass index


Input: Association of kinase insert domain-containing receptor (KDR) gene polymorphisms with idiopathic recurrent spontaneous abortion in Korean women.

KDR

recurrent spontaneous abortion


Input: These immunologically' biphenotypic' BCP-cell lines are generally TdT + CD10 + CD13 + CD19 + CD22 + CD34 + and carry the Philadelphia (Ph) translocation.

translocation


Input: The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development.

CMS

CMS


Input: Telemetric electrocardiogram recordings revealed a short QT interval in Lrp5-CKO mice, which was tightly linked to the striking abbreviation of action potential duration (APD) in ventricular myocytes.

short QT interval

short QT interval


Input: To determine whether genetic polymorphisms of PARP-1 are related to rheumatoid arthritis in a Korean population, six single nucleotide polymorphisms (SNPs), which were selected based on LDs and minor allele frequency (MAF > 0. 05) in our previous study, were genotyped in 1, 202 patients with rheumatoid arthritis and 979 unrelated healthy controls.

MAF

arthritis


Input: Lysophosphatidic acid (LPA) is enriched in ascites of ovarian cancer patients and is involved in growth and invasion of ovarian cancer cells.

LPA

ascites


Input: The selective cyclooxygenase-2 (COX-2) and 5-lipoxygenase (LOX) inhibitors might inhibit prostaglandin synthesis and reduce proteinuria.

LOX

proteinuria


Input: Remarkably, serum miR-195 had higher sensitivity, 73. 97% (108/146), as a tumor marker in the diagnosis of early stage BC [ductal carcinoma in situ, tumor-node-metastasis (TNM) I, II] compared with the conventional tumor markers CA153 and CEA (12. 41 and 7. 59%).

CEA

ductal carcinoma in situ


Input: Novel heterozygous c. 798C & gt; G and c. 1040T & gt; G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

Gaucher disease type 1

Gaucher disease type 1


Input: FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes.

lymphedema-distichiasis syndrome

lymphedema-distichiasis syndrome


Input: To enable mutation analysis of RD at the genome level, we have elucidated the genomic organization of the PHYH gene.

PHYH

RD

PHYH

RD


Input: Galectin-9 (Gal-9) is a β-galactosidase-binding lectin that promotes apoptosis, tissue inflammation, and T cell immune exhaustion, and alters HIV infection in part through engagement with the T cell immunoglobulin mucin domain-3 (Tim-3) receptor and protein disulfide isomerases (PDI).

inflammation


Input: The involvement of N-myc (and STAT) interactor (NMI) in tumorigenesis was sporadically reported but far from elucidation.

NMI

tumorigenesis


Input: Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1.

RTT

RTT


Input: FISH analysis revealed no translocations of the PAX5 gene, but polyploidy in some SCLC tumor tissues (6/37).

FISH

polyploidy


Input: In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS.

MZSDS

MZSDS


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations.

Greig syndrome

Greig syndrome


Input: Since the serotonin transporter-linked polymorphic region (5-HTTLPR) is found to mediate stress vulnerability as well as to influence energy intake, this gene may also influence the negative effects of stress exposure on overeating.

serotonin transporter

overeating


Input: Many human tumors, including the cervical carcinoma line HeLa, have been reported to be deficient in expression of the gap junction protein connexin43 (Cx43) and GJIC.

cervical carcinoma


Input: We analysed, by reverse transcription-polymerase chain reaction (RT-PCR), the expression of DAZ, RBM and SRY genes, in testicular cells from infertile men affected by idiopathic severe hypospermatogenesis, obstructive azoospermia and Sertoli cell-only syndrome.

DAZ

infertile


Input: Multivariate logistic analysis showed that diabetes was significantly associated with age (odds ratio: 1. 26), overweight (1. 86), high triglycerides (1. 96), family history of hypertension (1. 86), heart rate (1. 05) and high C-reactive protein (3. 59), and IFG significantly associated with age (odds ratio: 1. 11), low high-density lipoprotein-cholesterol (1. 80), family history of hypertension (1. 60), heart rate (1. 03) and high C-reactive protein (2. 73).

IFG

heart rate


Input: IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan.

IFNGR1 gene

leishmaniasis


Input: Recent evidence implicates a role of LPL in the brain in two processes: (a) the regulation of energy balance and body weight and (b) cognition.

LPL

body weight


Input: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy.

mild


Input: We found that the S100A11 gene expression is frequently up-regulated in PTC, anaplastic thyroid carcinoma, but not in follicular thyroid carcinoma.

S100A11 gene

anaplastic thyroid carcinoma


Input: Phosphorylation of WASF3 is required for its ability to affect invasion and increased phosphoactivation of WASF3 is also seen in cells challenged with hypoxia.

hypoxia


Input: This study investigates the correlation between p53 and β-catenin alterations and the molecular classification of ACC by transcriptome analysis of 51 adult sporadic ACCs.

sporadic


Input: Ten of the likely effector genes, including TGFB1 (transforming growth factor beta 1), FGF18 (fibroblast growth factor 18), CTSK (cathepsin K), and IL11 (interleukin 11), have therapeutics approved or in clinical trials, with mechanisms of action supportive of evaluation for efficacy in osteoarthritis.

CTSK

osteoarthritis

CTSK

osteoarthritis


Input: Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: Our results suggest that loss-of-function mutations in FLG are not associated with type 2 diabetes, cardiovascular disease, and all-cause mortality.

FLG

cardiovascular disease


Input: Multivariate logistic regression was used to identify factors associated with fibrosis at baseline, fibrosis progression (defined as 2-point increase in Ishak score), and HCC development.

HCC

fibrosis


Input: As RANBP9 is a small guanosine‑5'‑triphosphate‑binding protein that interacts with the disrupted in schizophrenia 1 protein, it is considered to be an important molecule in the pathogenesis of schizophrenia.

schizophrenia 1


Input: Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.

sucrase-isomaltase

Congenital sucrase-isomaltase deficiency

sucrase-isomaltase

Congenital sucrase-isomaltase deficiency


Input: These results suggest that, as is the case with BRCA1, somatic mutations of BRCA2 are infrequent in sporadic ovarian cancer, despite the relatively high frequency of LOH detected around the BRCA2 locus.

sporadic


Input: Here, we studied the expression of the ten-eleven translocation (TET) gene family and activation-induced deaminase/apolipoprotein B mRNA-editing enzymes (AID/APOBEC) in the inferior parietal lobule (IPL) (BA39-40) and the cerebellum of psychotic (PSY) patients, depressed (DEP) patients and nonpsychiatric (CTR) subjects obtained from the Stanley Foundation Neuropathology Consortium Medical Research Institute.

apolipoprotein B

translocation


Input: Examination of tissue specimens from the uterine adnexa involved in inflammation revealed a direct correlation in the levels of mRNA production between IL-6 and IL-10 (r = 0. 93, p < 0. 1), IL-6 and IL-4 (r = 0. 96, p < 0. 01), IL-10 and IL-4 (r = 0. 91, p < 0. 01), IL-12 and IFN-gamma (r = 0. 98, p < 0. 01).

inflammation


Input: Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus.

GFR

albuminuria


Input: We investigated podoplanin expression and its clinical relevance in a large series of sporadic GISTs.

podoplanin

sporadic


Input: BMP-2, hypoxia, and COL1A1/HtrA1 siRNAs favor neo-cartilage hyaline matrix formation in chondrocytes.

hypoxia


Input: C4 typing by Western blot analysis showed the frequency of the C4A * Q0 allele in the vitiligo patient group to be close to normal.

vitiligo


Input: Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women.

estrogen receptor beta

left ventricular mass


Input: In this study, the prevalence of the Trp64Arg ADRB3 polymorphism in a large group of patients with OSAS and its association with body mass index (BMI), insulin resistance and hypertension were evaluated.

insulin resistance


Input: Conversely, biglycan deficiency improved systemic and renal outcome in lupus-prone mice, with lower levels of autoantibodies, less enlargement of the spleen and lymph nodes, and reduction in renal damage and albuminuria.

biglycan

albuminuria


Input: Taken together, AP-1 activation by both the ERK pathway and the p38 MAPK pathway as well as their binding to TRE at position-69 to-63 in proximal promoter and TRE at position-2276 to-2270 in enhancer region is altogether essential in induction of MCP-1 mRNA in HUVEC infected with O. tsutsugamushi.

TRE

tsutsugamushi


Input: In colon cancer, SOCS-1, IGF-2, RUNX3, NEUROG1, and CACNA1G are commonly inactivated.

colon cancer


Input: Treatment of the cultured calvaria and femur with PD98059, an Erk1/2 inhibitor, resulted in partially alleviated coronal suture fusion and growth retardation of femur respectively.

growth retardation


Input: We found 33 MLC1 sequence variations, including three novel mutations: Val210Ile, Leu308Gln, and Arg328His in six BPAD cases and Val210Ile in one control individual.

BPAD

BPAD


Input: For rectal GC (88 infections detected), sensitivities were 43% for culture, 78% for SDA and 93% for AC2.

SDA

infections


Input: Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5.

Salla disease

Salla disease


Input: To explore the regulation of expression and the function of ZNF331 in human esophageal cancer, 11 esophageal cancer cell lines, 7 cases of normal esophageal mucosa and 99 cases of primary esophageal squamous cancer were employed.

esophageal


Input: The translocation resulted in an EWSR1-PBX3 fusion gene in which exon 9 of EWSR1 (nucleotide 1320 accession number NM_013986 version 3) was in-frame fused to exon 5 of PBX3 (nucleotide 824 accession number NM_006195 version 5).

translocation


Input: Widespread co-expression of FGFR1 and FGFR2 was observed in intimal smooth muscle cells, foam cells and the plaque microvasculature of simple and advanced lesions.

foam cells


Input: The KIF1A-related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences.


Input: This and most other mutations causing 21-hydroxylase deficiency are normally present in the CYP21P pseudogene and have presumably been transferred to CYP21 by gene conversion.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: No APP duplication was found in the late-onset FAD families or sporadic EO-AD patients.

FAD

sporadic


Input: The novel anticholinesterase phenserine also provided " proof of concept " for our strategy to target the APP 5'-UTR sequence to identify " anti-amyloid " drugs.

UTR

amyloid


Input: The hypothesis underlying this study was that polymorphisms in the IRF5 gene contribute to inadequate control of inflammation in psoriasis.

IRF5 gene

inflammation


Input: When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis.

CD

CD


Input: We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features.

WDSTS

WDSTS


Input: Epidemiological studies in humans have implicated carriage of combinations of genes encoding certain KIR3DL1 (killer Ig-like receptor 3DL1) alleles and their HLA-Bw4 ligands in slower progression to AIDS, lower viral load and protection from infection.

viral load


Input: In this study, we explore the possible deregulation of OR and TASR gene expression in the dorsolateral prefrontal cortex in schizophrenia.

TASR

schizophrenia

TASR

schizophrenia


Input: We have identified a new putative transcription factor from the rat kidney, termed Kid-1 (for kidney, ischemia and developmentally regulated gene 1).

ischemia


Input: ], insulin-like growth factor 2 mRNA binding protein 2 [IGF2BP2], potassium voltage-gated channel, KQT-like subfamily, member 1 [KCNQ1], paired box 4 [PAX4] and neuronal differentiation 1 [NEUROD1] transcription factors, ataxia telangiectasia mutated [ATM], and serine racemase [SRR]) that have recently been proposed as possible modulators of therapeutic response in subjects with T2DM.

telangiectasia


Input: The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0. 035).

SOC

colon cancer


Input: We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.

sitosterolemia

sitosterolemia


Input: Our results show that LDE FCR is increased in HBT, indicating that LDL clearance is increased in patients with beta-thalassemia trait possibly due to the increased proliferation in the bone marrow of erythroid precursors.

LDE

beta-thalassemia


Input: The increased frequency of activated lung CD4 (+) T cells with a T helper type 1 (Th1) cytokine profile in sarcoidosis patients is accompanied by a reduced proportion and/or impaired function of regulatory T cells (Tregs).

sarcoidosis


Input: Northern analysis of Smad1 and Hox7 RNA in primary cervical tumor tissues and cervical carcinoma cell lines indicated that, in general, the mRNA levels of these genes were decreased in human cervical cancer.

cervical cancer


Input: At postmortem, the motoneurons in the TGF-beta2-treated SOD1 mice exhibited a large hypertrophy of their nucleoli, nuclei, and axons.

hypertrophy


Input: Using a semiquantitative reverse transcriptase polymerase chain reaction (RT-PCR) technique, the numbers of copies (relative to the " housekeeping " gene beta-actin) of messenger ribonucleic acid (mRNA) encoding the eosinophil-active chemotactic cytokines, the factor regulated upon activation in normal T-cells expressed and secreted (RANTES) and monocyte chemotactic protein-3 (MCP-3), was measured in bronchial biopsies from atopic asthmatic patients (n = 9), and compared with atopic nonasthmatic (n = 8) and nonatopic nonasthmatic (n = 8) control subjects.

RANTES

atopic


Input: In the last few years, genetic and functional studies have provided important insight on the pathophysiology of excessive erythrocytosis (EE), the main sign of Chronic Mountain Sickness (CMS).

CMS

erythrocytosis


Input: In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.

regression


Input: In this study, we report that differences between T-cell receptor (TCR) V beta gene family usage in CD4 + and CD8 + T cells are significantly greater in a subgroup of patients with common variable immunodeficiency (CVI) and high levels of activated CD8 + T cells (CD8hi CVI) than in controls (P < 0. 001).

common variable immunodeficiency


Input: ICOS-deficient mice fail to undergo immunoglobulin-class switch recombination (CSR) and germinal center formation, suggesting that ICOS could be a candidate gene for phenotypic hyper-IgM (HIGM) syndromes characterized by recurrent infections, low serum IgG and IgA, and normal or elevated IgM.

ICOS

recurrent infections


Input: Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

X-linked lymphoproliferative syndrome

X-linked lymphoproliferative syndrome


Input: This study was performed to investigate BGP expression in non-small-cell lung carcinoma (NSCLC).

BGP

non-small-cell lung carcinoma


Input: Significant clinical correlates of MCP-1 levels were age, cigarette smoking, triglycerides, body mass index, and waist-to-hip ratio.

body mass index


Input: These results indicate that the expression of the high-affinity concentrative nucleoside transporter hCNT1 has a prognostic value in determining disease-free survival and risk of relapse in breast cancer patients undergoing surgery followed by cyclophosphamide-methotrexate-5-fluorouracil chemotherapy.

breast cancer

breast cancer


Input: At either 1. 5 or 3 months following radiation, bladders were analyzed for collagen deposition using Masson' s Trichrome staining of collagen and muscle and vascularization using Von Willebrand factor staining of ECs.

Von Willebrand factor

vascularization


Input: Among the gene polymorphisms tested in the study, association of gene polymorphisms with increasing risk of ischemic stroke was confirmed in 6 polymorphisms including angiotensin-converting enzyme insertion/deletion (ACE I/D; OR = 1. 87, 95% CI = 1. 45-2. 42), methylenetetrahydrofolate reductase (MTHFR) C677T (OR = 1. 55, 95% CI = 1. 26-1. 90), plasminogen activator inhibitor 1 (PAI-1) 4G/5G (OR = 1. 79, 95% CI = 1. 20-2. 67), beta-fibrinogen (beta-Fg)-455A/G (OR = 1. 48, 95% CI = 1. 14-1. 92), beta-Fg-148T/C (OR = 1. 72, 95% CI = 1. 42-2. 07), apolipoprotein E (ApoE) epsilon2-4 (OR = 2. 39, 95% CI = 1. 94-2. 95).

apolipoprotein E

fibrinogen


Input: The associations of methylation intensity and of smoking with all-cause, cardiovascular, cancer and other mortality were assessed by Cox' s proportional hazards regression, controlling for potential confounding factors.

Cox' s

smoking


Input: The relationship between the CAV-1 as well as Ki67 expression and the clinicopathological characteristics of 68 lung adenocarcinoma patients was also examined using immunohistochemistry.

CAV

lung adenocarcinoma


Input: The aim of this study was to investigate whether PPARG gene variations are associated with weight reduction and changes in coronary heart disease (CHD) risk factors in response to a 14-week calorie restriction.

PPARG gene

weight reduction


Input: Amyloid precursor-like protein 2 suppresses irradiation-induced apoptosis in Ewing sarcoma cells and is elevated in immune-evasive Ewing sarcoma cells.

Amyloid precursor-like protein 2

sarcoma


Input: Stratified analysis and regression analysis demonstrated that race, pack-years of smoking, family history of breast cancer, and CYP1B1 genotype were significant predictors of the level of benzo (a) pyrene-induced adducts in the breast tissues.

smoking


Input: In contrast, all of C4BQ0 SLE patients showed 5 or 6 ACR criteria including hematological disorder, malar rash, oral ulcers, renal disorder, immunological disorder and anti-nuclear antibody.

ACR

malar rash


Input: EMSA and inhibitor studies show that HOSCN up-regulation of these adhesion molecules is transcriptionally mediated through a mechanism that is dependent upon activation of the NF-kappaB p65/p50 transcription factor and constitutively suppressed by PI3K-Akt pathway activity.

NF-kappaB

adhesion


Input: Our results suggest that variation in GRM8 may be involved in modulating event-related theta oscillations during information processing and also in vulnerability to alcoholism.

alcoholism

alcoholism


Input: The XFC group was also much better than the TPT group in improving pulmonary function, FoxP3 mRNA, IFN-gamma, IL-4, Th1/Th2, and IL-10 (P < 0. 05 or P < 0. 01).

pulmonary function


Input: In addition, each cell line, exhibited one or more individual translocation chromosomes, which suggested that MET-1 was a precursor of MET-4, whereas MET-2 and MET-3 developed in parallel.

MET

translocation


Input: Recent interest in poly (ADP-ribosyl) polymerase (PARP) proteins which are key components of base excision repair, has led to the development of PARP inhibitors; tumors arising in BRCA1/2 mutation carriers and/or with HR deficiency (HRD) are particularly sensitive to the action of these drugs.

ADP

tumors


Input: These data suggest that IL-10 limits the inflammatory hyperalgesia evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of IL-1 beta evoked PGE2 production.

IL-1 beta

hyperalgesia

IL-1 beta

hyperalgesia


Input: Serum-soluble transferrin receptor concentrations in Helicobacter pylori-associated iron-deficiency anemia.

transferrin receptor

iron-deficiency anemia

transferrin receptor

iron-deficiency anemia


Input: To improve cytologic diagnostic accuracy for translocation-associated sarcomas, we explored dual-color break-apart (dc) chromogenic in situ hybridization (CISH) on liquid-based cytology (LBC) samples of 2 prototypic sarcomas: synovial sarcoma (SS) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET).

CISH

synovial sarcoma


Input: In rare cases, gene-trap homozygotes survive to postnatal stages and phenocopy both JATD and SRP type III by exhibiting growth retardation, shortening of the long bones, constriction of the ribcage and polydactyly.

SRP

constriction


Input: This study analyzes the relationship between risk factors related to overweight/obesity, insulin resistance, lipid tolerance, hypertension, endothelial function and genetic polymorphisms associated with: i) appetite regulation (leptin, melanocortin-3-receptor (MCR-3), dopamine receptor 2 (D2R)); ii) adipocyte differentiation and insulin sensitivity (peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2), tumor necrosis factor-alpha (TNF-alpha)); iii) thermogenesis and free fatty acid (FFA) transport/catabolism (uncoupling protein-1 (UCP1), lipoprotein lipase (LPL), beta2-and beta3-adrenergic receptor (beta2AR, beta3AR), fatty acid transport protein-1 (FATP-1) and iv) lipoproteins (apoliprotein E (apoE), apo CIII).

insulin sensitivity


Input: Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC.

DC

DC


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

depression

depression


Input: L-ficolin concentrations were generally lower in patients with asthma and/or allergic rhinitis with (mean 3413 ng/ml; p = 0. 02) or without (3512 ng/ml; p < 0. 07) respiratory infections, but not in patients with respiratory infections without allergic disease (3623 ng/ml; p = 0. 2).

L-ficolin

asthma


Input: To investigate dynamic changes in the expression of HCN2, HCN4, as well as KCNE1, and KCNE2 mRNA and protein levels in ventricular cells from acute myocardial infarction (AMI) rat hearts.

acute myocardial infarction


Input: Cooperation of MLL/AF10 (OM-LZ) with KRASG12C increased cell adhesion via upregulation of an adhesion G-protein-coupled receptor Gpr125.

adhesion


Input: Furthermore, we showed that the myristoylation site and DeltaSD domain played important roles in Nef-mediated inhibition of transwell and transendothelial migration and polarization of T lymphocytes; however, different sites or domains were needed for Nef-mediated LFA-1 down-modulation and impaired adhesion of T lymphocyte.

adhesion


Input: We also find that unilateral 6-OHDA-lesioned RGS9-/-mice are more susceptible to L-dopa-induced involuntary movements than unilateral 6-OHDA-lesioned RGS9 +/+ mice, albeit the rotational behavior--taken as an index of the anti-parkinsonian response--is similar between the two groups of mice.

involuntary movements


Input: Moreover, in serous carcinoma samples taken from ovarian cancer patients who responded well to chemotherapy, strong ALK7 staining and low miR-376c expression was detected.

ovarian cancer

ovarian cancer


Input: At the cellular level, ATM mutant tumors exhibited a deficient ATM-dependent p53 response to gamma irradiation, failure to up-regulate TRAIL-R2, a downstream target that links irradiation-induced p53 response with apoptosis, and an inability to repair induced chromosome breaks.

chromosome breaks


Input: Low-grade endometrioid carcinomas, however, are characterized by mutations in PTEN and CTNNB1, and microsatellite instability, and may arise from ovarian endometriosis or borderline endometrioid tumours.

PTEN

ovarian endometriosis


Input: The frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was not significantly different from that in the mild group of those with non-atopic asthma.

mild


Input: Fluorescence in situ hybridization showed a translocation involving the EWSR1 (Ewing sarcoma 1) gene region.

translocation


Input: Our study suggests that Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future.

Netrin G1

atypical Rett syndrome

Netrin G1

atypical Rett syndrome


Input: Both doses of losartan significantly lowered blood pressure, albuminuria, and GFR (P < 0. 05 vs. baseline).

GFR

albuminuria


Input: In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.

nausea and vomiting


Input: Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability.

Ferroportin disease

Ferroportin disease


Input: Genomic analysis revealed that the fusion arose from translocation events involving introns 3 or 8 of PTPRZ and intron 1 of MET.

MET

translocation


Input: Forty-three percent (13 of 30) of the gamma delta T cell clones isolated from PB and CSF of MS patients responded to heat shock protein (HSP70) but not HSP65, whereas only 2 of 30 control gamma delta T cell clones reacted to the HSP.

shock


Input: Somatic TP53 mutations in stroma, but not epithelium, of sporadic breast cancers were associated with regional nodal metastases (P = 0. 003).

sporadic


Input: We examined the relationship between a cough and ACE gene polymorphism, plasma bradykinin (BK), substance P (SP) and ACE inhibitor concentrations in patients with hypertension or chronic nephritis.

ACE gene

chronic nephritis


Input: SCARA3 levels in effusions and primary carcinomas were unrelated to patient age, tumor grade, FIGO stage, residual tumor volume after surgery, response to chemotherapy, or survival (P >. 05 for all).

residual tumor


Input: Cholinesterase activities were measured in plasma (ChE) and in intact erythrocytes (AChE) in patients suffering from manic-depressive illness, their first degree relatives who were well, and unrelated normal volunteers.

Cholinesterase

manic-depressive illness

Cholinesterase

manic-depressive illness


Input: PD subjects homozygous for the common V81M polymorphism, have higher overall freezing of gait scores after controlling for disease duration, although this polymorphism does not associate with the occurrence of PD or FOG.

FOG

freezing of gait


Input: CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.

gastric cancer

gastric cancer


Input: We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c. 2624delC; p. Ala875ValfsX146) coding for Rubicon.

Salih ataxia

Salih ataxia


Input: Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs.

MLA

MLA


Input: Moreover, we detected HA-1 promoter hypermethylation in primary cancers.

cancers

cancers


Input: HPS-associated genes participate in at least 4 distinct protein complexes: the adaptor complex AP-3; biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of HPS1/pale ear and HPS4/light ear.

pale


Input: The data provide evidence for a role of PTPRZ1, and for RPTPbeta signaling abnormalities, in the etiology of schizophrenia.

schizophrenia

schizophrenia


Input: We report the molecular genetic investigations of a patient with chronic progressive external ophthalmoplegia (CPEO) and myopathy where muscle biopsies taken 11 years apart revealed a progressive increase in the proportion of cytochrome c oxidase (COX)-deficient fibres.

COX

chronic progressive external ophthalmoplegia


Input: We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i. e., Italy), and establish whether there is one or more common mutation.


Input: We studied mutations in the GALNS gene from 23 additional MPS IVA patients (15 from Australia, 8 from Northern Ireland), with various clinical phenotypes (severe, 16 cases; intermediate, 4 cases; mild, 3 cases).

GALNS

MPS IVA

GALNS

MPS IVA


Input: In this study, we report the first characterization of the PINK1 protein in normal human and sporadic Parkinson' s brains, in addition to Parkinson' s cases with heterozygous PINK1 mutations.

sporadic


Input: In this region several candidate genes for atopy are localized such as the Th2 cytokines IL-4, IL-5 and IL-13, but also CD14, a receptor for LPS.

atopy


Input: We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.

prostate cancer

prostate cancer


Input: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

paroxysmal extreme pain disorder

paroxysmal extreme pain disorder


Input: Immunohistochemistry was used to analyse expression of key HR pathway proteins (ATM, ATR, BRCA1, MDC1, MRE11) and PARP-1 in 100 serous ovarian cancer (SOC) and 100 triple-negative breast cancer (TNBC) tumour samples from Japanese patients.

triple-negative breast cancer


Input: The EWS-WT1 t (11; 22) (p13; q12) translocation was demonstrated in all 4 tumors by fluorescence in situ hybridization and/or reverse transcription-polymerase chain reaction.

EWS

translocation


Input: However, at the peak of NV, TRAIL (-/-) mice had a significant increase in retinal neovascularization.

TRAIL

retinal neovascularization


Input: Recently, protein expression of IDE has been demonstrated in the epithelial ducts of normal breast and breast cancer tissue.

IDE

breast cancer


Input: The combined effects of IL-4 and IL-10 have been shown to shift the Th1/Th2 cell activation in favor of a Th2 immune response which seems to be essential for fighting against the inflammation and ultimative healing.

inflammation


Input: We present a case of erosive OLP, cutaneous lichen planus (CLP), and leukoplakia of the vocal cord in a man with chronic hepatitis C infection treated with IFN and ribavirin.

IFN

leukoplakia


Input: Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.

complicated hereditary spastic paraplegia

complicated hereditary spastic paraplegia


Input: Our patient has a FLNA missense mutation (c. 220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius.

FLNA

cardiovascular abnormalities


Input: During these period, mean blood pressure, Kt/V urea, and serum beta2-microglobulin were not changed between the two groups.

mean blood pressure


Input: Upon differentiation of HGPS-iPSCs, progerin and its ageing-associated phenotypic consequences are restored.

progerin

ageing


Input: We found 33 MLC1 sequence variations, including three novel mutations: Val210Ile, Leu308Gln, and Arg328His in six BPAD cases and Val210Ile in one control individual.

BPAD

BPAD


Input: The aim of the study was to define the relevance of deletions and duplications within the DAZ gene cluster to male factor infertility in a population of 90 infertile men and a control of 50 fertile men using real-time polymerase chain reaction (PCR).

DAZ

infertile


Input: Identification of BRCA2 mutation carriers by sequencing all exons of BRCA2 in a German cohort of 382 familial PrCa cases and of 92 sporadic PrCa cases with early onset (≤ 60 years).

sporadic


Input: These findings are consistent with the observed uneven distribution of CFTR missense mutations between NBD1 and NBD2 of CF patients.

CFTR

CF

CFTR

CF


Input: Further studies should examine the effects of antidepressant treatments upon EAAT2 expression in rodent models of depression to further elucidate the underlying molecular mechanisms.

depression

depression


Input: The CSF levels of CRH in patients with IS were lower, although, this trend was not significant.

CRH

IS

CRH

IS


Input: Only 2 of 126 (1. 6%) oropharyngeal cancer patients were found to be p16 +/EGFR FISH +.

FISH

oropharyngeal cancer


Input: Deletion and point mutation analyses of the IL-8 promoter revealed that both AP-1 and NF-kappaB binding sites were necessary for IL-8 induction by hypoxia.

hypoxia


Input: Three novel RUNX1 translocation partner genes on 1q21. 2 (ZNF687), 1p35 (YTHDF2), and 4q31. 3 (SH3D19) were identified using a panhandle polymerase chain reaction and the 3' rapid amplification of cDNA ends method.

translocation


Input: Presence of the XRCC1 399Gln allele was associated with a significantly decreased risk for lung cancer among non-smoking women (odds ratio (OR) 0. 4, 95% confidence interval (CI) 0. 2-0. 9).

smoking


Input: Nonetheless, WT MEF were more sensitive to TNF & #945;-induced death which was attributed to necrosis.

TNF

necrosis

TNF

necrosis


Input: Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies.

RHOA

alopecia

RHOA

alopecia


Input: Thus, the hypoxic response of DT-diaphorase expression is mediated in part through AP-1, initially by a jun-related mechanism and then by the involvement of fos.

hypoxic


Input: The rhoA and rhoC were higher in ESCC cell lines than in noncancerous esophageal cell.

rhoC

esophageal


Input: As CD4 (+) T-cell activation may be mediated by microbial translocation or interferon-alpha (IFN-α), we examined these factors in HIV patients with good or poor CD4 (+) T-cell recovery on long-term ART.

ART

translocation


Input: We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.

MR-GEF

bipolar disorder

MR-GEF

bipolar disorder


Input: Wip1 expression and its effects were examined in primary non-small cell lung cancer (NSCLC) and colon tumor cells by using Wip1-specific siRNA.

colon tumor


Input: In addition, some studies indicated that PCDGF participated in invasion, metastasis and survival of cancer cells by regulating cell migration, adhesion and proliferation.

PCDGF

adhesion


Input: In addition, cell cycle, proliferation, adhesion and invasion were analyzed in the DJ-1 knockdown of HepG2 cells.

adhesion


Input: Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.

major depression

major depression


Input: This study aims to investigate whether the Akt/mammalian target of rapamycin (mTOR) pathway, and particularly which Akt isoform, contributes to the development and progression of pulmonary vascular remodeling in hypoxia-induced pulmonary hypertension (HPH).

mammalian target of rapamycin

hypoxia


Input: Three-point linkage suggests that the gene for HNPP is located on chromosome 17 in the region between D17S250 (q11. 2-q12) and D17S520 (p12), a region that has recently been shown to encompass a locus for another hereditary neuropathy, hereditary motor and sensory neuropathy type 1 (HMSN type 1).

hereditary motor and sensory neuropathy


Input: Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.

thrombocytopenia


Input: In the present communication expression profiles of genes in the liver from wild-type Long-Evans agouti (LEA) and LEC rats at different stages of copper accumulation and liver disease were investigated.

LEC

liver disease


Input: This is the first report of an NUP98 translocation in lymphocytic leukemia and the first time that RAP1GDS1 has been implicated in any human malignancy.

translocation


Input: Further, overexpression of nuclear-localized p44 stimulates proliferation and invasion in ovarian cancer cells in the presence of estrogen or androgen.

ovarian cancer

ovarian cancer


Input: Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.

uroporphyrinogen III synthase

congenital erythropoietic porphyria

uroporphyrinogen III synthase

congenital erythropoietic porphyria


Input: We investigated whether GIP affects inflammation, lipolysis, and insulin resistance in human adipocytes.

GIP

insulin resistance


Input: Hepcidin liver expression is inappropriately low in alcoholic patients with active alcoholism and preserved hepatic function, and we conclude that this is the mechanism for alcohol consumption-associated iron overload in humans.

Hepcidin

alcoholism

Hepcidin

alcoholism


Input: Due to its antitumoral capacity on EGFR/c-erbB-2-positive breast cancer cells, we conclude from our results that the protein-based PLC-gamma1 inhibitor PS2-TAT may be a means for novel adjuvant antitumour strategies to minimise metastasis formation because of the blockade of cell migration and proliferation.

metastasis


Input: Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families.

matrix Gla protein

KS

matrix Gla protein

KS


Input: The effects of BMP2 or adenovirus-mediated transfection of smad1 on cardiomyocyte survival in hypoxia-reoxygenation were examined using rat neonatal cardiomyocytes.

adenovirus


Input: Many genetic variations have been identified in the human µ-opioid receptor MOP gene (OPRM1), and their implications have been reported in the effects of opioid drugs and susceptibility to drug dependence.

MOP

drug dependence


Input: On follow-up available for 17 patients (mean, 22. 4 months), 16 PAX8/PPARγ-positive cancers showed no evidence of biochemical or structural recurrence, whereas 1 patient with FTC developed bone metastasis.

bone metastasis


Input: A significantly increased incidence of migraine with aura (MWA), major depression, generalized anxiety disorder (GAD), panic attacks, and phobia was observed in individuals with the DRD2 NcoI C/C genotype compared with individuals with an DRD2 NcoI T allele.

phobia


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

neutropenia

neutropenia


Input: In contrast, PEDF-Tg animals with oxygen-induced retinopathy (OIR) developed significantly less severe retinal neovascularization compared with wild-type (Wt) mice with OIR.

PEDF

retinal neovascularization


Input: Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V.

glycyl tRNA synthetase

dSMA-V

glycyl tRNA synthetase

dSMA-V


Input: Calcitonin inhibits bone resorption via its receptor (CTR) on osteoclasts.

CTR

bone resorption


Input: A milder course of asthma or the degree of allergic reaction after a food challenge was associated with higher FOXP3 mRNA expression.

allergic reaction


Input: There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, in that 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1.

abnormalities


Input: The prolyl isomerase Pin1 regulates amyloid precursor protein processing and amyloid-beta production.

amyloid


Input: Furthermore, tumor cells derived from NIH3T3 cells overexpressing Cdt1 displayed numerical and structural chromosomal aberrations in the form of ploidy, double minutes, translocation, inversion, chromosome end-to-end fusion and robertsonian mutation.

chromosomal aberrations


Input: p66 (shc) messenger ribonucleic acid (mRNA) was compared with systemic oxidative stress and inflammation markers in control subjects and patients on HD before and after a single HD session in a cross-sectional analysis.

inflammation


Input: Scutellarin inhibits cell migration by regulating production of αvβ6 integrin and E-cadherin in human tongue cancer cells.

E-cadherin

tongue cancer


Input: Overall, the present study elucidated transcriptional changes of OvCar-3 and PC-3 cancer cell lines in response to OPNc overexpression, which provides an assessment for predicting the molecular mechanisms by which this splice variant promotes tumor progression features.

tumor progression


Input: The expressions of MAGE-1, MAGE-3, GAGE1-6, GAGE1-2 and BAGE mRNA in 33 surgically resected HCC samples and 26 of their corresponding non-cancerous samples (11 liver cirrhosis and 15 chronic hepatitis) were studied by a reverse-transcription polymerase chain reaction, and were compared with clinicopathological parameters.

HCC

chronic hepatitis


Input: Human MLL5 is located on chromosome 7q22, which frequently is deleted in myeloid leukemias, suggesting a possible role in hemopoiesis.

myeloid leukemias

myeloid leukemias


Input: Mutations of K-RAS, TP53, and microsatellite instability were present in similar frequencies between the two breast cancer groups, and moreover, these were similar to mutational frequencies found in sporadic endometrial cancer.

sporadic


Input: The positive rate of CDK4, p27, and E2F-1 was significant between chondrosarcoma and osteochondroma of the jaws (P < 0. 05).

osteochondroma


Input: Here we analyze the effect of SH2D1A protein missense mutations identified in 10 XLP families.

XLP

XLP


Input: SK1 positivity and high expression were associated with 5-year survival; the HR was 1. 86 (95% confidence interval [CI], 1. 18-2. 94) for breast cancer, 1. 58 (1. 08-2. 31) for gastric cancer, and 2. 68 (2. 10-3. 44) for other cancers; the total cancer HR was 2. 21 (95% CI, 1. 83-2. 67; P < 0. 00001).

gastric cancer


Input: There was a co-presence of DNMT3a and DNMT3b expression and an association of DNMT1 expression with alcohol consumption and poor overall survival.

alcohol consumption


Input: It is, therefore, critical to understand the molecular relationship of adjacent GP3 and GP4 tumor cell populations and relate molecular abnormalities to disease progression.

abnormalities


Input: Astrocytes and NG2 glia respond to CNS injury by the formation of a glial scar.

scar


Input: DNA methylation of PTPN6, MOS, DCC, CRK, and VAV1 was evaluated in non-neoplastic gastric specimens using quantitative methylation-specific PCR in patients with GC (n = 207) and their age-and gender-matched controls (n = 207).

CRK

non-neoplastic


Input: In addition, the incidence of aneurysms was assessed in mice lacking monocyte chemotactic protein-1 (CCL2) and mice lacking matrix metalloproteinase-12 (macrophage elastase).

macrophage elastase

aneurysms


Input: The ChREBP expression may be reflective of an aerobic metabolic phenotype that may conflict with hypoxia-induced signalling but provide a mechanism for growth at the oxygenated edge of the tumours.

ChREBP

hypoxia


Input: In addition, there are inflammatory pseudotumors (IPT) that may arise in the course of autoimmune pancreatitis (AIP).

IPT

autoimmune pancreatitis


Input: The multi-omics profiling and tumour biomarkers could successfully distinguish the two multifocal HCC types, while accurately predicting clonality and aggressiveness.

HCC

aggressiveness


Input: The aim of this study was to assess the impact of the genetic pattern (GP) defined by the single nucleotide polymorphisms (SNPs) rs14158 of low-density lipoprotein receptor (LDLR) and rs12979860 of interleukin-28B (IL28B) genes on the outcome and features of hepatitis C virus (HCV) infection in patients with and without human immunodeficiency virus (HIV) coinfection.

LDLR

coinfection


Input: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

lysinuric protein intolerance

lysinuric protein intolerance


Input: IL-4 by binding to its receptor (IL-4R) is essential for the development of airway inflammation present in asthma, through the induction of IgE synthesis in B cells and differentiation of T cells to a Th2 phenotype.

inflammation


Input: We have analyzed three regulatory IL-4 polymorphisms;-590C > T,-34C > T and 70 bp intron-3 VNTR, in 4216 individuals; including: (1) 430 ethnically matched case-control groups (173 severe malaria, 101 mild malaria and 156 asymptomatic); (2) 3452 individuals from 76 linguistically and geographically distinct endogamous populations of India, and (3) 334 individuals with different ancestry from outside India (84 Brazilian, 104 Syrian, and 146 Vietnamese).

mild


Input: To elucidate the involvement of MK in the development of tumors, we further examined its expression in a variety of human neoplastic cell lines: YMB-1-C (breast cancer), EBC-1 (lung squamous cell carcinoma), RERF-LC-OK (lung adenocarcinoma), SBC-3 (lung small cell carcinoma), HSC-2 (mouth squamous cell carcinoma), NUGC-2 (gastric cancer), COLO201 (colon cancer), HepG2 (hepatoma), MIA PaCa-2 (pancreatic cancer), MCAS (ovarian cancer), HeLa (cervical cancer), BeWo (chorionic carcinoma), ITO-II (testicular tumor), T24 (urinary bladder tumor), and G-401 (Wilms' tumor).

MIA

lung small cell carcinoma


Input: We conclude that FDH consists of at least two subgroups: 1) FCHL with high apolipoprotein B, small LDL particles, and increased fasting plasma insulin levels, and 2) a less well-defined residual having upper central obesity with low HDL cholesterol and high triglyceride levels.

apolipoprotein B

central obesity


Input: Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene.

aniridia

aniridia


Input: Jackson-Weiss syndrome (MIM 123150) is another autosomal dominant craniosynostosis with highly variable phenotypic expression.

MIM

craniosynostosis


Input: Infusion of antiserum against salusin-β attenuated the induction of VCAM-1, monocyte chemoattractant protein (MCP)-1, and IL-1β and as well as nuclear translocation of NF-κB in aortic endothelial cells (ECs) of LDL receptor-deficient mice, which led to the prevention of monocyte adhesion to aortic ECs.

salusin-β

adhesion


Input: TGFBIp increased both CCL21 expression in LECs, a chemokine that actively recruits tumor cells expressing the cognate chemokine receptors to lymphatic vessels and LEC permeability by inducing the dissociation of VE-cadherin junctions between LECs via the activation of SRC signaling.

LEC

dissociation


Input: To better characterize and define the genomic differences between the three classes of familial tumors and sporadic malignancies, we have analyzed 19 BRCA1, 24 BRCA2, and 31 BRCAX samples from familial breast cancer patients and 19 sporadic breast tumors using a 1-Mb resolution bacterial artificial chromosome array-based comparative genomic hybridization.

sporadic


Input: The promoters for 640 genes were found to be bound by β-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs).

autism spectrum disorder


Input: In varicocele group, seminiferous tubule' s bore was decreased (101 +/-2. 2) vs 146 +/-4. 1), limitan became thicker (3. 5 +/-0. 1 vs 1. 9 +/-0. 2), cell' s layer number was reduced (3. 0 +/-0. 2 vs 5. 5 +/-0. 1), cell' s maturity turned to disturbance (3. 6 +/-0. 3 vs 4. 9 +/-0. 1), the average score was lower than controlled group (8. 5 +/-0. 6 vs 16. 0 +/-1. 2), they had significant differences (P < 0. 001).

cell' s

varicocele


Input: Evaluation of 29 SNPs (P < 1 × 10 (-5)) in an additional 971 severely obese children and 1, 990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST).

RMST

severe obesity


Input: We compared the proteomes of paired primary and recurrent post-chemotherapy ovarian high-grade serous carcinomas from nine ovarian cancer patients using CIEF/Nano-RPLC coupled with ESI-Tandem MS. As compared to their primary tumors, more than half of the recurrent tumors expressed higher levels of several proteins including CP, FN1, SYK, CD97, AIF1, WNK1, SERPINA3, APOD, URP2, STAT5B and RELA (NF-kappaB p65), which were also validated by quantitative RT-PCR.

carcinomas


Input: Screening for the presence CDKN1C and TP53 mutations and analyzing the expression pattern of CDNC, P53 and its downstream effector CDN1 (P21WAF1/CIP1) in a series of 79 sporadic adrenal tumors.

sporadic


Input: Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.

depression

depression


Input: PCOS participants were younger, with higher age-adjusted BMI, waist circumference, blood pressure, triglycerides, insulin, homeostasis model assessment index to estimate insulin resistance and total testosterone, and lower HDL-C and sex hormone binding globulin vs controls.

sex hormone binding globulin

insulin resistance


Input: Using Western blot and RT-PCR analyses we demonstrated striking evidence that the expression of HIF-1alpha, ETS-1, MMP-7 and MT1-MMP was strongly upregulated by hypoxic stimulation.

hypoxic


Input: They also showed elevated alkaline phosphatase and PTH, as well as decreased phosphate and calcium.

PTH

elevated alkaline phosphatase


Input: Although normotensive, cardiac hypertrophy was evident with obesity, and cardiac fibrosis more pronounced in obese GPx4 (+/-) mice.

fibrosis

fibrosis


Input: We treated a patient with T/myeloid biphenotypic acute leukemia showing clonal chromosomal and genetic abnormalities including dic (7; 12) (p11; p11) and Fms-like tyrosine kinase 3 (FLT3)-internal tandem duplication.

biphenotypic acute leukemia


Input: Some studies indicate that the Trp64Arg polymorphism in the gene encoding the beta3-adrenergic receptor (ADRB3) is associated with obesity, insulin resistance and earlier onset of type 2 diabetes mellitus.

insulin resistance


Input: We hypothesized that if certain XPC haplotypes have functional effects, a correlation between these haplotypes and baseline and/or mutagen-induced CA would exist.

XPC

CA

XPC

CA


Input: We also report on the association between GRM7 and BP in a second sample of 593 patients and 642 controls (UCL2).

BP

BP


Input: These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.

schizophrenia

schizophrenia


Input: The loss of glucose-regulated protein 78 (GRP78) during normal aging or from siRNA knockdown augments human alpha-synuclein (α-syn) toxicity to rat nigral neurons.

aging


Input: To undertake analysis of hepatitis A viral load, alanine aminotransferase (ALT), and viral genotypes with duration of viremia, and to correlate these parameters with CD4 (+)/CD8 (+) lymphocyte populations that control cell-mediated immunity.

viremia


Input: Serum levels of ANXA2 expression in 115 patients with HCC, 25 with metastatic liver cancer, 35 with chronic hepatitis, 28 with acute hepatitis, 38 with cirrhosis, and 30 healthy controls were determined.

HCC

chronic hepatitis


Input: Also, the amount of immunostained nuclei for RelB (P = 0. 025) and NFkB1 (P = 0. 031) was higher in ER-breast tumors versus ER + breast tumors.

RelB

breast tumors


Input: The main polymorphisms on transporters OCT2, LRP, AQP2, AQP9 and TMEM205 genes were genotyped in 338 lung cancer patients.

lung cancer


Input: Heat pre-conditioning fails to protect aged HDF to oxidative or hypoxic stress due in part to impaired HSP70 induction compared to young.

hypoxic


Input: Increased expression of phospholipase C (PLC)-beta1 and PLC-beta3 proteins was apparent in the scar and viable tissues after MI versus controls and is associated with increased PLC-beta1 activity in experimental hearts.

PLC

scar


Input: Transforming growth factor beta1 (TGFbeta) inhibits cellular proliferation, promotes differentiation, and stimulates the expression and secretion of the extracellular matrix adhesion molecules fibronectin and laminin and the colon-associated intercellular adhesion molecule carcinoembryonic antigen.

carcinoembryonic antigen

adhesion


Input: Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.

WASP

X-linked thrombocytopenia

WASP

X-linked thrombocytopenia


Input: Overexpression of LPL in skeletal muscle has been linked with higher plasma glucose levels suggesting insulin resistance (Jensen et al., Am J Physiol 273: R683-R689, 1997).

LPL

insulin resistance


Input: SSA treatment did not affect GRK2 and β-arrestin expression in GHomas or in cultured rat pituitary tumor GH3 cells.

pituitary tumor


Input: Here, we further investigate the effects of netrin-4, another member of the same netrin family, on neovascularization in vitro and in vivo.

neovascularization


Input: The serotonin 5-HT (7) receptor has been linked to various psychiatric disorders, including schizophrenia, anxiety and depression, and is antagonized by antipsychotics such as risperidone, clozapine and lurasidone.

5-HT (7

depression

5-HT (7

depression


Input: Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia.

Diamond-Blackfan anaemia

Diamond-Blackfan anaemia


Input: Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17 = HDL4).

prion protein

spinocerebellar ataxia 2


Input: The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene.

ATPase 6

maternally inherited Leigh syndrome

ATPase 6

maternally inherited Leigh syndrome


Input: Hepatic regulation of VLDL receptor by PPAR & #946;/& #948; and FGF21 modulates non-alcoholic fatty liver disease.

non-alcoholic fatty liver disease

non-alcoholic fatty liver disease


Input: We evaluated the relationship of amplification and polysomy of both the CCND1 and the ERBB2 (alias HER-2/NEU) genes to the overexpression of their proteins in esophageal and gastric cancers and also their association with clinicopathological features.

esophageal


Input: The results suggest that seven of these genes, including VCAM1 and CDK14, may confer growth and infiltration capacity to HCC cells.

HCC

HCC


Input: Reduced expression of apolipoprotein E receptor type 2 in peripheral blood lymphocytes from patients with major depressive disorder.

apolipoprotein E receptor

major depressive disorder

apolipoprotein E receptor

major depressive disorder


Input: These findings suggest that nuclear FMRP regulates genomic stability at the chromatin interface and may impact gametogenesis and some developmental aspects of fragile X syndrome.

FMRP

fragile X syndrome

FMRP

fragile X syndrome


Input: BRCA1-linked breast cancers are more aneuploid and have a worse prognosis, but this has not been elucidated in ovarian cancers.

aneuploid


Input: The MALAT1 expression levels were greater in invasive carcinoma than in noninvasive carcinoma (P =. 018).

invasive carcinoma


Input: We now show that in human astrocytomas and glioblastomas, the normal pattern of expression of Shc1/Shc3 is totally subverted, both proteins being present at the same time and in the same cells.

astrocytomas


Input: LEP-2548A/A in GHD patients (65. 8%) was associated with lower weight, BMI, leptin concentrations than those of individuals carrying the A/G or G/G genotype (34. 2%).

LEP

weight


Input: In this study, we demonstrated that miR-200a and E-cadherin were significantly upregulated in EOC compared to benign epithelial ovarian cysts and normal ovarian tissues.

E-cadherin

ovarian cysts


Input: Calcitonin gene-related peptide (CGRP) released from sensory neurons, which are closely apposed to mast cells and blood vessels, mediates gastric hyperemia in response to acid challenge of the damaged mucosa.

CGRP

hyperemia


Input: To understand the impact of the phenylethanolamine N-methyltransferase (PNMT) G-148A gene and nutritional variables on weight loss in obese women.

PNMT

obese


Input: Our recent studies have shown that hypothermic microenvironment promotes tumor progression and that the molecular sensors for cold are the transient receptor potential (TRP) channels TRPM8 and TRPA1.

hypothermic


Input: Alterations in the expression pattern of MTHFR, DHFR, TYMS, and SLC19A1 genes after treatment of laryngeal cancer cells with high and low doses of methotrexate.

DHFR

laryngeal cancer


Input: In addition, overexpression of LPL significantly suppressed high fat diet-induced obesity and insulin resistance in Tg WHHL rabbits.

LPL

insulin resistance


Input: Recent studies evidenced a decrease in ghrelin' s aqueous humor levels in patients with glaucoma.

ghrelin' s

glaucoma


Input: Patients with chronic hepatitis or liver cirrhosis develop HCC, and when this occurs, some patients exhibit autoantibodies of new specificities.

HCC

chronic hepatitis


Input: This new humanized model of MS further implicates autoimmunity against MOBP in MS pathogenesis, provides the first evidence of pathogenic HLA-DQ-associated anti-myelin autoimmunity, and is the first to offer a rationale for HLA-DQB1 * 0602 association with MS.

MOBP

autoimmunity


Input: Such neurodegeneration may be precipitated by (RCAN1-1L-mediated) prolonged calcineurin inhibition and GSK-3β induction/activation, both of which promote tau hyperphosphorylation, and/or by (RCAN1-1L-mediated) effects on the mitochondrial ANT, diminished ATP/ADP ratio, opening of the mtPTP, and mitochondrial autophagy.

ANT

neurodegeneration


Input: The role of alpha 1b-adrenergic receptor (alpha 1b-AR) in relation with neuronal degeneration, drug addiction, and seizure susceptibility has recently emerged.

alpha 1b-adrenergic receptor

seizure

alpha 1b-adrenergic receptor

seizure


Input: This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.

dyslipidemia

dyslipidemia


Input: The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.

dRTA

dRTA


Input: We studied the associations of ADIPOQ, ADIPOR1, and ADIPOR2 polymorphisms with resting metabolic rate, RQ, and body mass index, percentage body fat, sum of 6 skinfold thicknesses, waist circumference, and total, subcutaneous, and visceral fat in 759 participants in the Québec Family Study.

body mass index


Input: Lactoferrin levels are also increased in the various phases of inflammation and dysplasia in an azoxymethane-dextran sulfate sodium (AOM-DSS) model of colitis-associated colon cancer (CAC).

CAC

colon cancer


Input: Interestingly, the male Gpx4-null mice rescued by the sGPX4 gene were infertile and exhibited sperm malformation.

malformation


Input: The similarity in the putative secondary structures of XLF and XRCC4 as well as the association of XLF with XRCC4. DNA ligase IV in vivo suggested a role in the final ligation step of NHEJ.

secondary


Input: In different types of acute leukemias, CYP2B6 516 T allele frequency was significantly higher in AML with AML1-ETO (19. 2%, p < 0. 05), AML-NOS (22. 7%, p < 0. 01), acute monoblastic and monocytic leukemia (25. 9%, p < 0. 01), and T-ALL (38. 2%, p < 0. 01).

acute monoblastic and monocytic leukemia


Input: Because circadian rhythms and sleep are known to modulate sympathovagal balance, we investigated whether homozygosity for this PER3 polymorphism is associated with changes in autonomic nervous system (ANS) activity during sleep and wakefulness at baseline and after sleep deprivation.

sleep deprivation


Input: Pertussis toxin prevented the inhibition of BK-induced hyperalgesia by U50, 488H, DPDPE, or DAMGO.

BK

hyperalgesia

BK

hyperalgesia


Input: Although both microsatellite instability and LOH of NER factors were observed in some cases, there was no strong association between them in the present study.

NER

microsatellite instability


Input: Despite limitations due to study size, we conclude that the association between HCA intake and PCa risk could be modified by polymorphisms of GSTT1, GSTM1, and MnSOD.

MnSOD

PCa

MnSOD

PCa


Input: Female carriers were asymptomatic although three had slightly abnormal color vision and small paracentral field defects and subtle RPE defects were found in three carriers.

RPE

asymptomatic


Input: Attempts to inhibit DAF function with anti-DAF Abs did not affect the quantity of complement activation by these anti-megalin Abs, nor did it lead to development of abnormal albuminuria.

DAF

albuminuria


Input: Multiple analyses of breast, lung, and ovarian tumor samples and/or cell lines show no evidence of MPL mRNA or TPO-R protein expression.

MPL

ovarian tumor


Input: The effects of MTA1 expression on SiHa cell apoptosis, cycle, proliferation, migration, invasion and adhesion were tested by flow cytometry, MTT, wound-healing assay, Transwell assay and adhesion assay, respectively.

adhesion


Input: Components of carcinomatous ascites and purified tumoral mucins (CA125 and TAG-72) bound the MR and induced its internalization.

carcinomatous ascites


Input: To investigate the role of mutated mismatch repair gene hMSH2 and mutant p53 gene in the carcinogenesis and development of sporadic digestive tract tumors.

p53 gene

sporadic


Input: To study the integrity of the FSH receptor (FSHR) signaling pathway in granulosa-lutein cells at the time of egg retrieval and its relationship with the infertility diagnosis.

FSHR

infertility


Input: It was indicated that serum containing Chinese medicine BSHYJDR in the tumor-bearing mice and the normal mice had certainly different, tumor-bearing mice serum containing could improve drug concentration in lung cancer drug-resistance cells, prevent the inflow and release of Ca2 +, and inhibit the expression of the drug-resistance gene in the lung cancer drug-resistance cells, which might be the mechanism of BSHYJDR in enhancing the efficacy in reversing and inhibiting tumor.

lung cancer


Input: A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype.

MFS

MFS


Input: Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

aortic aneurysm

aortic aneurysm


Input: The results suggest that seven of these genes, including VCAM1 and CDK14, may confer growth and infiltration capacity to HCC cells.

HCC

HCC


Input: The present study was designed to investigate the chemopreventive and chemotherapeutic effects of quercetin based on cytochrome P450 (CYP) mediated ROS generation, ROS-induced cellular damage and activation of the NFκB signalling circuit during 7, 12-dimethylbenz [a] anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis.

HBP

carcinogenesis


Input: In conclusion, both smoking and ageing seem to have minor influences on the spectrum of HPRT mutation in T cells.

HPRT

smoking


Input: Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3.

ACS

ACS


Input: We also observed an inhibitory effect of garcinol on IL-6-induced STAT-3 phosphorylation and production of urokinase-type plasminogen activator, vascular endothelial growth factor and matrix metalloproteinase-9, which might explain the reduced invasion and aggressiveness of cells treated with garcinol.

aggressiveness


Input: To investigate whether the presence of the APOE epsilon4 allele can account for the earlier age at onset of familial AD (FAD) compared with sporadic AD (SAD).

FAD

sporadic


Input: With the increase or decrease of NDRG2 levels in MCF-7 and Bcap-37 cells by adenovirus-NDRG2 infection or NDRG2 siRNA transfection, CD24 expression was significantly decreased or increased, respectively.

adenovirus


Input: Patients with autoimmune diabetes showed a clinical phenotype significantly different from that of type 2 diabetes, including higher fasting glucose and A1C, lower BMI and uric acid, lower prevalence of metabolic syndrome and its components, and higher frequency of TPO antibodies.

TPO

autoimmune diabetes


Input: HBO significantly reduced loss of hippocampal CA1 neurons that normally follows transient forebrain ischemia when the last HBO session was 6 h, 12 h, or 24 h before ischemia (survived neurons 55%, 75%, and 53%, respectively), whereas if there was a 72-h delay before the ischemic insult, HBO was not protective (survived neurons only 6%).

ischemia


Input: Further studies should address the possible involvement of the TSP1 in the pathophysiology of diabetic retinopathy.

diabetic retinopathy

diabetic retinopathy


Input: To investigate the physiological and pathological role of Jak3 in glomeruli, we prepared anti-Jak3 antibody and analysed the localization of Jak3 in glomeruli of renal biopsy samples from various nephritis patients and normal subjects.

nephritis


Input: We investigated the expression of specific extracellular matrix (ECM) proteins in cardiac hypertrophy induced by isoproterenol in TGR (A1-7) 3292 rats.

TGR

cardiac hypertrophy


Input: 18 SNPs in six one-carbon metabolism-related genes (CBS, MTHFR, MTR, MTRR, SHMT1, and TYMS) were genotyped in 859 clear cell renal cell carcinoma (ccRCC) patients and 1005 cancer-free controls by the Snapshot.

MTR

clear cell renal cell carcinoma


Input: Using the sib-pair methods, evidence for linkage was found with orosomucoid (ORM) on chromosome 9q (p = 0. 006), regardless of whether only individuals with unipolar depression, alcoholism, or antisocial personality were considered to be affected, or whether individuals with any psychiatric disorder were considered to be affected.

ORM

antisocial personality


Input: Analysis of 4, 509 cases with a severe subtype of MDD, melancholia, yielded an increased genetic signal at the SIRT1 locus.

melancholia


Input: Fibrinogenolysis and thrombin generation after reduced dose bolus or conventional rt-PA for pulmonary embolism. The Coagulation Project Investigators of the Bolus Alteplase Pulmonary Embolism Group.

Alteplase

pulmonary embolism

Alteplase

pulmonary embolism


Input: These results preliminarily suggest that HERV-K115 may not be associated with schizophrenia in general, but that it could play a partial role in early precipitation of the disease.

schizophrenia

schizophrenia


Input: Necdin is functionally similar to the retinoblastoma protein and binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T, adenovirus E1A, and the transcription factor E2F.

Necdin

adenovirus


Input: The transfection of miR-205 into KB oral cancer cells strongly induced IL-24, a well known cytokine that acts as a tumor suppressor in a range of tumor tissues.

oral cancer


Input: Short interfering RNAs (siRNAs) specific for B7-H4 were evaluated for their ability to knockdown B7-H4 mRNA and protein expression in pancreatic cancer cells and the most effective siRNA was selected for investigating the effect of B7-H4 gene silencing in a number of functional assays.

H4 gene

pancreatic cancer


Input: Expression levels of TNF-α, IFN-γ in the hyperplasia group have a positive correlation to bone loss, whereas expression levels of TGF-β, IL-4 in the necrosis group have a positive correlation to the bone formation.

IFN

hyperplasia


Input: The basis for this idea originated from studies in two related patients with a partial trisomy 18p11 and therefore carrying 3 copies of the PACAP gene and elevated PACAP concentrations in their plasma which resulted in a bleeding tendency with thrombopathy and a mild thrombocytopenia.

PACAP

partial trisomy


Input: As expected, all squamous epithelia including skin, oral mucosa, trachea, vaginal epithelium, and the epithelial compartment of the thymus expressed aberrant levels of cyclin D1.

cyclin D1

trachea


Input: To analyze the promoter region of PIP5K2A, a phosphatidylinositol 4-phosphate 5-kinase that maps to 10p in a region linked to both bipolar disorder and schizophrenia.

phosphatidylinositol 4-phosphate 5-kinase

bipolar disorder

phosphatidylinositol 4-phosphate 5-kinase

bipolar disorder


Input: Alterations of the CCND1 and HER-2/neu (ERBB2) proteins in esophageal and gastric cancers.

esophageal


Input: MYLK may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the ONH.

MYLK

glaucoma

MYLK

glaucoma


Input: Our findings point out the association between PMS2 and TS, and support the hypothesis that patients with a few polyps, small bowel tumors with a very early onset, glioblastoma, and CALS should be considered as a variant of hereditary nonpolyposis colorectal cancer.

polyps


Input: A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Olmsted syndrome

Olmsted syndrome


Input: This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.

mitochondrial depletion


Input: Recently, WHIM (warts, hypogammaglobulinaemia, infections, myelokathexis) syndrome-like mutations in CXCR4 have been described in 28% of LPL cases, and seem to impact clinical presentation and response to therapy.

LPL

infections


Input: Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.

FMRP

fragile X syndrome

FMRP

fragile X syndrome


Input: Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis.

factor V Leiden

Budd-Chiari syndrome

factor V Leiden

Budd-Chiari syndrome


Input: Although obesity may not play a pathogenic role in initiating arthritis, it could play an important role in amplifying the inflammation of arthritis through the Th1/Th17 response.

inflammation


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.

carcinomas

carcinomas


Input: We evaluated 29 areas showing normal terminal ductal lobular units (TDLUs) or histopathologically benign changes (in particular, sclerosing adenosis), using a panel of polymorphic dinucleotide microsatellite markers for the BRCA1 gene and other chromosome 17 loci, for the BRCA2 gene and other chromosome 13 loci, and for the FHIT gene on 3p14. 2.

FHIT gene

sclerosing adenosis


Input: To investigate whether genetic polymorphism of alcohol dehydrogenase (ADH) 2 and aldehyde dehydrogenase (ALDH) 2 was related to alcoholic testicular atrophy, we determined restriction fragment-length polymorphisms of the ADH2 and ALDH2 genes in 43 Japanese male alcoholics and 50 healthy subjects.

ADH

testicular atrophy


Input: Functional deficiency of the FEN1 gene has been suggested to cause genomic instability and cancer predisposition.

FEN1 gene

genomic instability


Input: In conclusion, we showed that ATGL knockdown increased monocyte adhesion to the endothelium through enhanced TNFα-induced ICAM-1 expression via activation of NFκB and PKC.

ATGL

adhesion


Input: Hyperlysinemia is caused by mutations in AASS.

AASS

Hyperlysinemia

AASS

Hyperlysinemia


Input: X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22. 1-p21. 3 in a Belgian family.

microcephaly


Input: No robust differences were observed between mutants and wild-type littermates in locomotor activity or in behavioral paradigms that evaluate anxiety or depression-like phenotypes; however, Scn8a (med-jo/+) mutants did show enhanced spatial memory.

anxiety


Input: We demonstrated that the treatment of human lung adenocarcinoma A549 cells with CAV caused growth inhibition; G1 phase arrest is accompanied by accumulation of an incompletely phosphorylated form of the retinoblastoma protein, whose phosphorylation is necessary for cell cycle progression from G1 to S phase.

CAV

lung adenocarcinoma


Input: These results demonstrate that, in mild atopic asthma, IL-13 and IL-4 are coexpressed and that the upregulation of IL-13 expression is greater than that of IL-4.

mild


Input: Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED).

cranioectodermal dysplasia

cranioectodermal dysplasia


Input: In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia.

neurotrophic factor

congenital intestinal atresia


Input: A first cross-sectional examination of 68 HIV-1-infected and 18 normal subjects showed high levels of sCD27 in HIV-1 infection; plasma sCD27 was correlated to HIV-1 viraemia and inversely correlated to CD4 + T cell count.

viraemia


Input: The MTHFR 677TT genotype may be a genetic risk factor for male infertility, especially with severe OAT and non-obstructive azoospermia in unexplained infertile males.

OAT

infertile


Input: In consequence, the mosaic mice show evidence of haemolysis accompanied by haptoglobin-dependent elimination of haemoglobin (Hb) from the circulation, as well as the induction of haem oxygenase 1 (HO1) in the liver and kidney.

haptoglobin

haemolysis

haptoglobin

haemolysis


Input: The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.

schizophrenia

schizophrenia


Input: However the duration of infection in these mice was evaluated for a limited time lasting only weeks post infection, and it is not established how long the viremia can be sustained, and if the CD4 T cell loss persists throughout the life of the infected humanized mice.

viremia


Input: Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

dihydropyrimidinase

Dihydropyrimidinase deficiency

dihydropyrimidinase

Dihydropyrimidinase deficiency


Input: The classifier was validated on an independent group of 19 BRCA2-mutated and 19 sporadic breast tumors.

sporadic


Input: In this study 20 brain tumors consisting of 15 glioblastomas, 4 meningiomas and 1 gliosarcoma were investigated for the presence of GAL-LI and GAL receptors.

GAL

gliosarcoma


Input: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.

KIT

gastrointestinal stromal tumours

KIT

gastrointestinal stromal tumours


Input: CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.

PC

PC


Input: In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P (GC) = 3. 9 x 10 (-18)), GPRC6A/RFX6 (P (GC) = 1. 6 x 10 (-12)), 13q22 (P (GC) = 2. 8 x 10 (-9)), C2orf43 (P (GC) = 7. 5 x 10 (-8)) and FOXP4 (P (GC) = 7. 6 x 10 (-8)).

prostate cancer susceptibility


Input: The role of vaspin in the diabetic vascular complications remains elusive, and we investigated the effects of vaspin on the vascular function under the diabetic milieu.

vaspin

diabetic vascular complications


Input: Overexpression of miR-181b inhibited importin-α3 expression and an enriched set of NF-κB-responsive genes such as adhesion molecules VCAM-1 and E-selectin in ECs in vitro and in vivo.

NF-κB

adhesion


Input: USP44 regulates centrosome positioning to prevent aneuploidy and suppress tumorigenesis.

tumorigenesis


Input: Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.

Kniest dysplasia

Kniest dysplasia


Input: Importantly, glioblastoma lines derived from independent genetically engineered mouse models (GEMMs) were more sensitive to haloperidol, an FDA approved DRD2 antagonist, than the premalignant astrocyte lines by approximately an order of magnitude.

premalignant


Input: Moreover, we obtained evidence that this beta-TrCP-dependent degradation takes part in controlling cyclin D1 turnover when cancer cells undergo glucose starvation, which endows physiological relevance to this novel mechanism.

cyclin D1

starvation


Input: Together, these results indicate that Prox1 plays an important, previously unanticipated role in mediating the aggressive behavior of vascular neoplasms such as KS.

aggressive behavior


Input: It is well known that oxLDL activates nuclear factor erythroid 2-related factor 2 (Nrf2), a master regulator of antioxidant and cytoprotective genes such as heme oxygenase-1 (HO-1), which play an important role in preeclampsia.

preeclampsia


Input: We searched for the presence of human T-cell leukemia virus type I (HTLV-I) sequences in central nervous system and muscle lesions of 3 patients with tropical spastic paraparesis/HTLV-I-associated myelopathy (TSP/HAM) and 3 patients with HTLV-I-associated polymyositis.

TSP

polymyositis


Input: We hypothesize that breast cancer cells, through downregulation of CD1d and subsequent evasion of NKT-mediated antitumor immunity, gain increased potential for metastatic tumor progression.

tumor progression


Input: Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: 15-LOX-2 was expressed in normal esophageal epithelial cells (EECs) at the highest levels, whereas an SV40-immortalized HET-1A line and three of five esophageal cancer cell lines failed to express it at detectable levels.

esophageal


Input: Molecular cytogenetic analysis confirmed that formation of an ETV6/ABL1 fusion in these patients required at least three chromosomal breaks and showed that each of these translocations is the result of a complex chromosomal rearrangement.

chromosomal breaks


Input: The mRNA levels of many zinc transporters (ZnT4, ZnT5, ZnT9, Zip1, Zip4, and Zip6) were significantly lower in obese women, and expression of these genes was inversely correlated with BMI and body fat percentage.

body fat percentage


Input: EC cell lines are characterized by low SNCG protein levels under control conditions, but exhibit a significant increase triggered by hypoxia and acidosis.

SNCG

hypoxia


Input: Alternatively, the progressive accumulation of mutants in patients with acute hepatitis, chronic hepatitis and HCC may reflect the increased length of duration of HBV infection in these groups of liver lesions.

HCC

chronic hepatitis


Input: At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.

PORCN

Goltz-Gorlin syndrome

PORCN

Goltz-Gorlin syndrome


Input: Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

Rett syndrome

Rett syndrome


Input: CONCLUSIONS: These findings imply that DCD promotes breast tumorigenesis via modulation of ERBB signaling pathways.

DCD

tumorigenesis


Input: We previously reported that quercetin, a bioflavonoid belonging to polyphenols, inhibited Angiotensin II (Ang II)-induced vascular smooth muscle cell (VSMC) hypertrophy through the inhibition of c-Jun N-terminal kinase (JNK) activation.

JNK

hypertrophy


Input: In addition, reelin protein in the molecular layer of the dentate gyrus was decreased in schizophrenia, bipolar disorder, and depression at the trend level of statistical significance (P = 0. 065).

reelin

depression

reelin

depression


Input: Our study provides the first systematic investigation of the association of genetic variants in the HLA-DP region with cervical cancer susceptibility and provides further insight into the contribution of polymorphisms in the HLA-DP region to risk of cervical cancer.

HLA-DP

cervical cancer


Input: Impaired SOD2 activity in murine hematopoietic cells affects erythroid development, resulting in anemia characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span.

reticulocytosis

reticulocytosis


Input: In the present study, we confirmed the association of rs1800469 in TGF-beta1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-beta1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-beta1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population.

atopic


Input: Increased PLD2 immunoreactivity after this sublethal ischemia was observed in CA1 pyramidal neurons of the rat hippocampus.

ischemia