Input: These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency.

alpha-NAGA

alpha-NAGA deficiency

alpha-NAGA

alpha-NAGA deficiency


Input: In GGC homozygote, blood pressure showed positive and significant association with fat percentage and GMT (P <. 001).

GGC

blood pressure


Input: In combination with previously established roles for MMR proteins in response to UVB-induced DNA damage, our data point towards an expanded perspective of the importance of MMR proteins in the suppression of UVB-induced tumorigenesis and, potentially, tumour behaviour.

MMR

tumorigenesis


Input: Using RT-PCR (for ERalpha and ERbeta) and Western blotting (for ERalpha only), we demonstrated that all cultures of early passage myometrial and fibroid SMC (> 99% pure) expressed ERalpha but not ERbeta, while myometrial and fibroid MEC (> 99% CD31 +) constitutively expressed ERbeta.

SMC

fibroid


Input: When stratified by the C914T genotype, there were between-group differences for body mass index (BMI) (P = 0. 05), diastolic blood pressure (DBP) (P = 0. 006), and systolic blood pressure (SBP) (P = 0. 005).

DBP

systolic blood pressure


Input: In this study, we investigated whether adenovirus (Adv)-mediated coinduction of p33ING1 and p53 enhances apoptosis in glioma cells (U251 and U-373 MG), which showed no genetic alterations but low expression levels of p33ING1.

adenovirus


Input: Primary cultures of ameloblastoma cells expressed cytokeratin (CK) 14 and 16, and MMP-2, but only weakly expressed CK18 and vimentin.

ameloblastoma


Input: The effects of silibinin on sPLA2 expressions in human HepG2 hepatoma and PC-3 prostate cancer cells were analyzed using quantitative reverse transcription-polymerase chain reaction and enzyme linked immunosorbent assay technique.

hepatoma


Input: The EGF family of ligands and receptors plays an important role in the pathogenesis of pancreatic ductal adenocarcinoma (PDAC) and contributes to its aggressiveness.

EGF

aggressiveness


Input: Thus, PTX3 may represent a new marker of cancer-related inflammation and glioma malignancy.

glioma


Input: Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c. 192G & gt; C (p. E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution.


Input: Here, we describe a further 8 independent families comprising 10 affected individuals with Carpenter syndrome, who were positive for mutations in RAB23.

Carpenter syndrome

Carpenter syndrome


Input: Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy.

infertile


Input: After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medication use, cardiovascular disease and diabetes, and for all relevant genetic polymorphisms (ApoE2, ApoE4, CFH Y402H, ARMS2 A69S, LIPC rs10468017, LIPC rs493258, LPL rs12678919, ABCA1 rs1883025 and CETP rs3764261), higher HDL was significantly associated with an increased risk of early (OR = 2. 45, 95% CI: 1. 54-3. 90; P = 0. 0002) and any AMD (OR = 2. 29, 95% CI: 1. 46-3. 59; P = 0. 0003).

LIPC

smoking


Input: Increasing alcohol intake was associated with increasing erythrocyte volume, AST/ALT, and levels of ALT, gamma-GT, albumin, bilirubin, coagulation factors, and with decreasing levels of alkaline phosphatase.

AST

alcohol intake


Input: HRT had no effects on fibrinogen and factor VIII.

factor VIII

fibrinogen


Input: In vitro, BCR-ABL kinase inhibitor imatinib mesylate or siRNA specific to BCR-ABL upregulated SARI mRNA expression in human leukemia cells.

SARI

leukemia


Input: We estimated the heritability of ambulatory systolic blood pressure (SBP), diastolic blood pressure (DBP), and pulse pressure (PP) in east African families with at least 2 hypertensive siblings and living in the Seychelles islands (Indian Ocean).

DBP

systolic blood pressure


Input: PAN-induced nephrosis is interesting in studying the pathophysiological mechanism of the lowered activity of plasma renin in some patients with nephrotic syndrome.

renin

nephrosis

renin

nephrosis


Input: Geometric mean (SD range) hs-CRP levels were significantly lower (P < or = 0. 009) for HNF1A-MODY individuals, 0. 20 (0. 03-1. 14) mg/l, than for any other group: autoimmune diabetes 0. 58 (0. 10-2. 75) mg/l, type 2 diabetes 1. 33 (0. 28-6. 14) mg/l, GCK-MODY 1. 01 (0. 19-5. 33) mg/l, and nondiabetic 0. 48 (0. 10-2. 42) mg/l.

type 2 diabetes 1

autoimmune diabetes


Input: To evaluate the clinical utility of serum levels of N-terminal pro C-type natruretic pep-tide (NT-pro CNP) in patients with hepatitis C related chronic liver disease (CLD), in prospective to disease complications and progression.

CNP

chronic liver disease


Input: Distinctive immunohistochemical staining for alpha (2) M could be consistently demonstrated in GST-P-negative HAF, HCA, and HCC induced not only by peroxisome proliferators but also N-nitrosodiethylamine alone.

alpha (2) M

HCC

alpha (2) M

HCC


Input: Rhesus macaques infected IVAG with SHIVSF33A demonstrated a dramatic decrease in the CD4 (+) PBMC subset in the initial weeks after viral exposure, a time that corresponded to peak in plasma viremia and antigenemia.

viremia


Input: Experimental models of vaccination with tumor cells engineered to produce interleukin-4 (IL-4) have shown that the local release of this cytokine is associated with the development of antitumor immunity that may induce regression of established cancer.

regression


Input: Long noncoding RNA lncTCF7, induced by IL-6/STAT3 transactivation, promotes hepatocellular carcinoma aggressiveness through epithelial-mesenchymal transition.

aggressiveness


Input: To test the hypothesis that PlGF contributes to the therapeutic benefits of MSC delivery in cerebral ischaemia, we compared the efficacy of systemic delivery of human MSCs (hMSCs) and hMSCs transfected with a fibre-mutant F/RGD adenovirus vector with a PlGF gene (PlGF-hMSCs).

MSC

cerebral ischaemia


Input: Thus, EC-SOD overexpressed hearts are less susceptible to mild degrees of ischemia-reperfusion injury than normal hearts.

EC-SOD

mild


Input: Sensitivity and specificity for detection of the precursor lesion intestinal metaplasia were 100% and 85%, respectively, for claudin-4; 89% and 92%, respectively, for MKK4; and 97% and 97%, respectively, for stratifin.

intestinal metaplasia


Input: We now show in the mouse that thalidomide given intraperitoneally but not orally significantly inhibits bFGF-induced and vascular endothelial growth factor (VEGF)-induced corneal neovascularization.

vascular endothelial growth factor

corneal neovascularization

vascular endothelial growth factor

corneal neovascularization


Input: To further elucidate the significance of alterations in the Shh signaling pathway, we investigated 31 sporadic BCCs and 15 PNETs for the mutation and/or expression of SMOH, PTCH, SHH, and GL11.

SMOH

PNET

SMOH

PNET


Input: DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations.

sporadic


Input: However, the deletion of TLR4 from myeloid lineage cells had no effect on the development of PH because we found no difference in RV systolic pressure or RV hypertrophy in wild-type versus LysM-TLR4 (-/-) mice.

systolic pressure


Input: We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.

MFS

MFS


Input: Weight loss was associated with an increase in IRAK3 and a decrease in SOD2, in association with a lowering of systemic inflammation and a decreasing number of metabolic syndrome components.

inflammation


Input: Several studies have demonstrated a linkage or association of the atopic phenotype with T-cell cytokine genes involved in the regulation of the TH1/TH2 balance (eg, IL4, IL13, and their common receptor, IL4RA).

atopic


Input: Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index.

butyrylcholinesterase

stature


Input: Recently, some reports show that Ligand of Numb Protein-X 1 (LNX1) could be a suppressor gene in gliomas, while our current research has firstly shown that PDZ domain containing ring finger 4 (PDZRN4), another member of LNX family, could also be a potential suppressor in hepatocellular carcinoma (HCC).

gliomas


Input: Furthermore, it is conceivable that LOX downregulation could underlie plaque instability and contribute to the destructive remodelling that takes place during aneurysm development.

LOX

aneurysm


Input: Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

limb girdle muscular dystrophy type 2a

limb girdle muscular dystrophy type 2a


Input: The most reliable imaging discriminators of ALT/WDL were size of lesion and lipomatous content, but due to the overlap in the MRI appearances of lipoma and ALT/WDL, discrimination should be based on molecular pathology rather than imaging.

MRI

lipoma


Input: These studies reveal a conserved requirement for ZC3H14/dNab2 in the metazoan nervous system and identify a poly (A) RNA binding protein associated with a human brain disorder.

RNA binding protein

brain disorder


Input: Metastatic extraosseous Ewing tumor. Association of the additional translocation der (16) t (1; 16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22.

EWS

translocation


Input: In addition, unexpected splenomegaly affiliated with the xenograft predicted tumor-derived granulocyte colony-stimulating factor (G-CSF) production, which was confirmed by reverse-transcription polymerase chain reaction and enzyme-linked immunosorbent assay.

granulocyte colony-stimulating factor

splenomegaly


Input: Livin gene expression was detected in a significant portion of RCC tumor tissue specimens (13/14, 92. 9%) and tumor-derived cell lines (12/15, 80. 0%).

Livin

RCC

Livin

RCC


Input: Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant.

anophthalmia/syndactyly

anophthalmia/syndactyly


Input: 507 Japanese sporadic PTC cases and 2766 controls were genotyped for rs965513 (FOXE1) and rs944289 (NKX2-1).

sporadic


Input: These findings identify NSD2 as a potential therapeutic target for pediatric ALL and provide a general framework for the functional annotation of cancer epigenomes.

pediatric ALL

pediatric ALL


Input: The p. D160H allele accounts for 55. 6% of the mutational SLC45A2 alleles in Chinese OCA4 patients.


Input: Pharmacologic doses of xenin-25, another peptide produced by K cells, restored the GIP-mediated insulin secretory response and reduced hyperglycemia in GIP/DT mice.

GIP

hyperglycemia


Input: Although the first three mechanisms do not appear to be relevant, regression of myeloid suppressor cells in Stat6-deficient and CD1-deficient mice may be responsible for enhanced immunosurveillance.

regression


Input: Possible involvement of the HLA-DQB1 gene in susceptibility and resistance to human dilated cardiomyopathy.

HLA-DQB1 gene

cardiomyopathy


Input: For 69 non-small-cell lung cancer patients treated with gefitinib, we have extended our analysis to EGFR gene copy number by fluorescence in situ hybridization, mutations in K-ras, HER2, and exon 20 of EGFR by direct sequencing, and phosphatase and tensin homologue expression by immunohistochemistry, in addition to EGFR exons 18, 19, and 21, and phosphorylations of Akt and extracellular signal-regulated kinase reported previously.

tensin

lung cancer


Input: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

cytochrome P450c17

17 alpha-hydroxylase deficiency

cytochrome P450c17

17 alpha-hydroxylase deficiency


Input: We report a child with a 785kb deletion of the 3p14. 1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis.

hypertonia


Input: Genetic variants in DAT1, the gene encoding the dopamine transporter (DAT) protein, have been implicated in many brain disorders.

brain disorders


Input: Expression of PgR (P < 0. 05) and cyclin D1 (P < 0. 01) was low in the BRCA1-and BRCA2-associated cancers compared with sporadic cases.

sporadic


Input: PLP2 specifically binds to phosphatidylinositol 3 kinase to activate the protein kinase B pathway to enhance cell proliferation, adhesion, and invasion in melanoma cells.

protein kinase B

adhesion


Input: IL-6 was associated with wheezing and CRP was associated with wheezing and rales in SM exposed group.

CRP

rales


Input: This novel TG mouse model of the human MM t (14; 16) (q32; q23) chromosomal translocation should serve to provide new insight into the role of c-MAF in tumorigenesis.

c-MAF

chromosomal translocation


Input: Significant interactions were observed between smoking status and SULT1A1-638 (P = 0. 02), NAT2-857 (P = 0. 01), and CYP1B1-4390 (P = 0. 04) variants and between smoking duration and NAT1-1088 (P = 0. 02), SULT1A1-638 (P = 0. 04), and NAT1-acetylator (P = 0. 03) status.

smoking


Input: Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death.

seizures

seizures


Input: An opposite effect was observed in the hippocampus, where CFA down-regulated NK-1 receptor and BDNF gene expression, phenomena previously observed in immobilization models of stress and depression.

NK-1 receptor

depression

NK-1 receptor

depression


Input: Twenty cases of healthy subjects, 11 cases with asymptomatic HCV/genotype 4 carriers (ASC), 28 chronic hepatitis (CH) cases and 32 patients with HCC were enrolled in this study.

HCC

chronic hepatitis


Input: Familial ovarian carcinomas do not appear to differ from sporadic ovarian carcinomas with regard to patient age at presentation, histopathology, ploidy, and immunohistochemically detected p53 expression.

sporadic


Input: We found that rs2274700 (A473A) and rs7542235 (CFHR1-3Δ) were both significantly associated with diastolic blood pressure (DBP) (β = 0. 632-1. 431, P ≤ 0. 038) and systolic blood pressure (SBP) (β = 1. 567-4. 445, P ≤ 0. 008), and rs2274700 (A473A) was associated with hypertension risk (OR [95% CI]: 1. 175 [1. 005-1. 373], P = 0. 048).

DBP

systolic blood pressure


Input: Such connections to circadian genes such as CLOCK, ARNTL1, NPAS2, PER3 and NR1D1 have been repeatedly demonstrated for bipolar disorders, and to a lesser extent for recurrent depressive disorders and seasonal affective disorders.

bipolar disorders

bipolar disorders


Input: In this study, we tested the hypothesis that GST polymorphisms that lead to reduced or lack of enzyme activity are associated with severe Plasmodium falciparum malarial anemia.

GST

anemia


Input: These results suggest that urea accumulation in the hippocampus induced by UT-B deletion can cause depression-like behavior, which possibly attribute to disturbance in NOS/NO system.

NOS

depression

NOS

depression


Input: To investigate the possible involvement of an intronic polymorphism in the presenilin 1 (PS1) gene and its interactions with the aplolipoprotein E (APOE) or alpha-1 antichymotrypsin (ACT) polymorphisms in the manifestation of AD, we analyzed the PS1, APOE and ACT genotypes of 100 sporadic AD patients and 199 normal elderly controls in Koreans.

ACT

sporadic


Input: Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2.


Input: To further analyse cancer involvement of basic transcription factor 3 (BTF3) after detection of its upregulation in gastric tumor samples.

gastric tumor


Input: Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.

ACTH receptor

adrenal unresponsiveness to ACTH

ACTH receptor

adrenal unresponsiveness to ACTH


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

NF-L

bipolar disorder

NF-L

bipolar disorder


Input: Tumor-specific proteolytic processing of cyclin E generates hyperactive lower-molecular-weight forms.

cyclin E

weight


Input: In the present study, we show that t-RA treatment dramatically induced type II transglutaminase (type II TGase) expression in cells carrying the t (15; 17) translocation and expressing the PML-RARalpha product such as the APL-derived NB4 cell line and fresh leukemic cells from APL patients.

TGase

translocation


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

breast cancer

breast cancer


Input: In polyclonal tissues, about half the copies of each HUMARA allele are methylated, whereas in cells derived from a single clone all the copies of only one allele are methylated.

HUMARA

all


Input: Inhibition of aneuploidy in p53 null PC-3 cells by DN-HSF1 expression was recapitulated by expression within the cells of wild type p53.

aneuploidy


Input: The results suggest the ex vivo use of SLT-1 in purging SLT-1 receptor-expressing malignant cells from autologous stem cell grafts of breast cancer, lymphoma, and myeloma patients.

SLT

myeloma


Input: Thiadiazole carbamates: potent inhibitors of lysosomal acid lipase and potential Niemann-Pick type C disease therapeutics.

lysosomal acid lipase

Niemann-Pick type C disease

lysosomal acid lipase

Niemann-Pick type C disease


Input: The whole population was screened for polymorphisms belonging to genes encoding FII, FV, alpha-fibrinogen, beta-fibrinogen, GP IIb/IIIa, tumor necrosis factor (TNF)-alpha, interleukin 1-beta.

interleukin 1-beta

fibrinogen


Input: We aimed to determine whether in the aged rat the chronic long-term treatment with sildenafil ameliorates corporal SMC loss and fibrosis, stimulates NOS2A induction, and corrects the associated CVOD.

SMC

fibrosis


Input: To find out if Axin is also involved in the pathogenesis of sporadic MBs, we analyzed 86 MBs and 11 MB cell lines for mutations in the AXIN1 gene.

AXIN1 gene

sporadic


Input: The tumor was treated with surgery, chemotherapy, and local radiation, but residual tumor was detected within a year as a well-differentiated peripheral neural tumor lacking detectable EWS/FLI1 expression.

EWS

residual tumor


Input: Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay.

TEF

microcephaly


Input: In AML, the recurring t (5; 11) (q35; p15. 5) translocation fuses NSD1 to nucleoporin-98 (NUP98).

translocation


Input: When all patients were analyzed, the levels of white blood cells, hemoglobin and splenomegaly were significantly different in patients with the JAK2-V617F mutation (p < 0. 05).

hemoglobin


Input: Several autoimmune diseases (AD) are associated with enhanced frequencies of CD5 (+) B cells.

autoimmune diseases


Input: We examined the possibility that CCN3 (NOV), another CCN family member with reported biological activities that differ from CCN2, might act as an endogenous negative regulator of ECM and fibrosis.

ECM

fibrosis


Input: However, 2-week apelin-13 treatment had no obvious effect on the rats with hyperuricemia.

apelin

hyperuricemia

apelin

hyperuricemia


Input: Immunohistochemical analysis of 528 samples from patients with CRC showed that elevated expression of Snail or serpinA1 was correlated with advanced stage, lymph node metastasis, and poor prognosis.

lymph node metastasis


Input: Taken together, these observations suggest that combination therapy with IGFBP-3 and RXR ligands may have therapeutic potential for prostate cancer treatment.

prostate cancer

prostate cancer


Input: Transfection of dnHIF-1 alpha completely abrogated hypoxia-induced Ets-1 activity as well as BMP4 expression.

hypoxia


Input: A multiple linear regression analysis revealed that albuminuria, mean arterial blood pressure, haemoglobin A (1C) and serum cholesterol during follow-up predicted a steeper decline in GFR [R (2) (adjusted) = 0. 27], whereas the PC-1 genotype did not contribute.

GFR

albuminuria


Input: Because the apoptotic cells were detected mainly in regions distant from blood vessels, it was hypothesized that POMC therapy might render melanoma cells vulnerable to hypoxic insult.

POMC

melanoma

POMC

melanoma


Input: Leptin and leptin receptor levels may be used as useful markers of high risk of becoming overweight in ALL survivors, particularly in females treated with CRT.

CRT

overweight


Input: Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).

MTR gene

glutamate formiminotransferase deficiency


Input: In case of multiple/familial meningioma the use of appropriate MRI technique may include GRE and/or susceptibility-weighted imaging (SWI) to rule out CCM.

SWI

familial meningioma


Input: The results suggest that neutrophil elastase may contribute to neuronal death in hippocampal CA1 following forebrain ischemia and that neutrophil elastase inhibitor attenuates neuronal death.

ischemia


Input: The finding of two DNAaseI hypersensitivity sites (DHSs) mapped in the first intron of the mts1 gene supports this suggestion.

mts1 gene

hypersensitivity


Input: Our results indicate that a subpopulation of myeloma patients carrying the wild-type C-allele of IL1B C-3737T and non-carriers of the promoter haplotype TGT (-3737 (T),-1464 (G) and-31 (T)) benefit from a better outcome of HDT and INF-α treatment, an effect that may be related to the NF-κB pathway.

TGT

myeloma


Input: Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size.

endothelial nitric oxide synthase

aneurysm


Input: We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.

ALL

ALL


Input: Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive analysis in large cohorts.

sporadic


Input: Susceptibility to iatrogenic OHSS or its clinical severity may be associated with FSHR polymorphisms with slightly different activities in vivo as suggested by several studies.

FSHR

OHSS

FSHR

OHSS


Input: APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy.

APOE

lipoprotein glomerulopathy

APOE

lipoprotein glomerulopathy


Input: In this study, we assessed the pattern of CMV viremia in SPK transplant recipients receiving either antithymocyte globulin (ATG) or anti-CD25 (daclizumab) immunosuppressive induction therapy.

viremia


Input: To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development.

fetal edema


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

lung cancer


Input: Neuronal proliferation and apoptosis were implicated in hydrocephalus, and we observed significantly reduced neuronal proliferation and massively increased neuronal apoptosis in the developing cortex and SCO of Tg embryos, while neurite outgrowth and neuronal migration in vitro remain uncompromised.

neuronal migration

hydrocephalus


Input: Osteoprotegerin deficiency could explain juvenile Paget' s disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand).

Osteoprotegerin

juvenile Paget' s disease

Osteoprotegerin

juvenile Paget' s disease


Input: Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate.

acrocallosal syndromes

acrocallosal syndromes


Input: Our findings indicate that increased receptor stability and sustained FGFR-4 signaling occur in most human prostate cancers due to either the presence of a common genetic polymorphism or the expression of a protein that stabilizes FGFR-4.

prostate cancers

prostate cancers


Input: The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human.

polycystic kidney disease 1


Input: Our data indicate that TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis, thereby promoting MIA-CID development.

MIA

MIA


Input: Overexpression of PAR-1 in atypical nevi and melanomas supports.

atypical nevi


Input: Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.

lung tumor

lung tumor


Input: TNDM1 is not associated with mutation of PLAGL1 or HYMAI, but rather with their overexpression via uniparental disomy, chromosome duplication, or relaxation of imprinting.

HYMAI

uniparental disomy


Input: We present a dialysis patient who developed tumoral calcinosis over the right shoulder after receiving a misplaced injection of human recombinant erythropoietin probably into the periarticular tissue.

erythropoietin

tumoral calcinosis

erythropoietin

tumoral calcinosis


Input: In 20 samples of corresponding non-neoplastic mucosa, no DNA methylation of the CHFR gene was detected.

CHFR gene

non-neoplastic


Input: E3/2 and E4/4 genotype frequencies were higher in patients with hyperlipidemia PST.

PST

hyperlipidemia


Input: Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels.

hyperplasia


Input: To compare the cytoplasmic and nuclear poly (ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic and 39 familial breast cancer cases.

sporadic


Input: Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits.

vesicular monoamine transporter 1

personality traits


Input: Mutations of K-ras at exon 1 and p53 at exons 5, 6, 7 and 8 were analyzed in 43 cases of sporadic colorectal carcinoma.

sporadic


Input: Using Cox regression in this cohort, we evaluated subtype-specific associations between family history and risk of triple-negative (N = 705), estrogen receptor-positive (ER +, N = 10, 026), and hormone receptor-negative/HER2-expressing (ER-/PR-/HER2 +, N = 308) breast cancer among women aged 40-84 years.

estrogen receptor

regression


Input: There were no differences in HbA1c, GFR, or albuminuria in the overall group.

GFR

albuminuria


Input: We identified genetic variants of 5-HT (2A) and 5-HT (2C) receptors, the G-protein beta-3 subunit, and the adrenergic receptor beta-3, as genetic risk factors for olanzapine-induced weight gain, and they showed additive genetic effects on weight gain.

weight gain


Input: ROS-induced oxidative DNA damage in LSCs caused clinically relevant genomic instability in CML-CP-like mice, such as TKI-resistant BCR-ABL1 mutations (E255K, T315I, H396P), deletions in Ikzf1 and Trp53, and additions in Zfp423 and Idh1.

BCR

genomic instability


Input: Prevalence, clinico-pathological value, and co-occurrence of PDGFRA abnormalities in diffuse gliomas.

PDGFRA

abnormalities


Input: Querying the REepository of Molecular BRAin Neoplasia DaTa (REMBRANDT), an annotated patient gene database maintained by the National Cancer Institute, we identified the intermediate conductance Ca (2 +)-activated K (+) channels, KCa3. 1, being overexpressed in 32% of glioma patients where protein expression significantly correlated with poor patient survival.

KCa3. 1

glioma


Input: To sort the temporal and spatial regulation of EGF-dependent cytoskeletal re-organization in relation to a cell' s motile behavior time-lapse microscopy was performed on EGF-responsive gastric carcinoma-derived MKN1 cells co-expressing different fluorescently labeled cytoskeletal filaments and focal adhesion components in various combinations.

cell' s

gastric carcinoma


Input: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Hereditary hypophosphatemic rickets with hypercalciuria

Hereditary hypophosphatemic rickets with hypercalciuria


Input: SICs overexpress the neoplasia-related genes NAP1L1 (mitotic regulation), MAGE-D2 (adhesion), and MTA1 (estrogen antagonism).

adhesion


Input: This study was to explore the distribution pattern, kinetic delivery of adenovirus, and therapeutic efficacy of the MSC loading of E1A mutant conditionally replicative adenovirus Adv-Stat3 (-) which selectively replicated and expressed high levels of anti-sense Stat3 complementary DNA in breast cancer and melanoma cells.

MSC

adenovirus


Input: Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

PHARC

PHARC


Input: The CD5 (+), IgM (+), B220 (dim), hyperdiploid LPD was linked to 3 loci on chromosomes 14, 18, and 19 that are distinct from previously identified autoimmunity-associated loci.

autoimmunity


Input: Using candidate genes in the 5q22-q32 interval, we investigated the possibility that mutations in the SPARC or LOX genes cause these corneal diseases.

SPARC

corneal diseases


Input: The pathogenesis of progressive spastic paraparesis [HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP)], a serious consequence of human T-cell leukemia virus type I (HTLV-I) infection, is unclear.

TSP

progressive spastic paraparesis


Input: Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t (1; 5) (q42; q32) translocation as the sole chromosomal abnormality.

chromosomal abnormality


Input: Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

liver dysfunction


Input: Lymphedema-distichiasis syndrome and FOXC2 gene mutation.

Lymphedema-distichiasis syndrome

Lymphedema-distichiasis syndrome


Input: These results implicate a tissue degeneration triggered by Nav1. 5 deficiency manifesting as a TGF-β (1)-mediated fibrosis accompanied by electric remodeling in the sinus node dysfunction associated with Scn5a disruption or aging.

fibrosis


Input: The human small cell (oat cell) carcinoma line, SHP-77, established by Fisher and Paulson in 1977 and originally described as a " large cell variant of oat cell cancer " has been evaluated by several different parameters and shown even after more than 200 passages to retain properties described for the original cell line.

SHP

carcinoma


Input: We aimed to evaluate the relationship between 174 promoter region of the interleukin-6 (IL-6) C/G gene polymorphism and high sensitive C-reactive protein (hs-CRP), fibrinogen and carotis intima-media thickness (CIMT), body mass index, homeostatic model assessment (HOMA) insulin resistance index, serum lipid parameters, in polycystic ovary syndrome (PCOS) patients carrying a potential risk for developing cardiovascular disease (CVD).

CRP

insulin resistance


Input: Chronic dietary menthol blunted mesenteric arterial constriction and lowered blood pressure in genetic hypertensive rats via inhibition of RhoA/Rho kinase expression and activity in the vivo study.

Rho kinase

blood pressure


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: As for the signalling pathway, TNF-alpha stimulation led to the phosphorylation of extracellular signal-regulated kinase 1/2 (Erk1/2) and p38 mitogen-activated protein kinase (p38MAPK) and translocation of nuclear factor kappaB (NF-kappaB) (p65) into the nuclei.

TNF-alpha

translocation


Input: Taken together, we provide evidence that the epigenomic proteins BRD3/4 and WHSC1 are essential regulators of estrogen receptor signaling and are novel therapeutic targets for treatment of Tam-R breast cancer.

breast cancer

breast cancer


Input: Thus, the downregulation of TAP1 and LMP2 proteins by sterigmatocystin may directly affect tumor immunity by allowing transformed cells to escape the host immune surveillance, thereby promoting esophageal cancer.

tumor immunity


Input: These results indicate cyclin A2 to be involved in the acquisition of aggressive behaviour of tumour cells through the activation of PI3K by cyclin A2-induced periplakin, and to be a promising therapeutic target.

aggressive behaviour


Input: Furthermore, we suggest that the deletion of the CDH1, a tumor suppressor gene, involved in hereditary diffuse gastric cancer (HDGC) and LBC predisposed the mother to the carcinoma.

LBC

carcinoma


Input: With ANOVA, AVI/AVI homozygotes reported higher alcohol use than either PAV/AVI heterozygotes or PAV/PAV homozygotes.

ANOVA

alcohol use


Input: In the logistic regression analysis, adjusted for age and smoking, NAT2 slow phenotype was significantly associated with the severity of bone loss, the odds ratio being 2. 09 (95% C. I.

smoking


Input: Role of CYB5A in pancreatic cancer prognosis and autophagy modulation.

pancreatic cancer


Input: To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age.

sporadic


Input: Twenty-four-hour DBP, 24-h MBP, LVM, LVM: height ratio, total cholesterol and PRA values were significantly higher in normotensive obese offspring of hypertensive parents than in obese offspring of normotensive parents.

DBP

height


Input: Overexpression of PDK1 occurred uniformly throughout the leukemic population, including putative leukemia-initiating cells.

leukemia


Input: A significant negative correlation was observed between the percentage of Dlco and MCP-1 and MIP-1 alpha levels in BAL fluid in patients with PF (r =-0. 65, p = 0. 003; r =-0. 48, p = 0. 04; respectively).

PF

PF


Input: EXPERIMENTAL BACKGROUND: In 64 patients with HCC, 20 with liver cirrhosis, 20 with chronic hepatitis, and 50 healthy individuals, we measured serum hTERT mRNA by using the newly developed real-time quantitative reverse transcription-PCR with SYBR Green I.

HCC

chronic hepatitis


Input: We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1-associated 8p11. 2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL.

FISH

eosinophilia


Input: Elevated levels of Gremlin, Jagged1 and Hes1 were also detected in extracts from renal biopsies from diabetic nephropathy patients, but not in control living donors.

diabetic nephropathy


Input: Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.

major depression

major depression


Input: Compared with noncarriers of the aldose reductase z-2 allele (n = 92) and z-2 heterozygotes (n = 77), z-2 homozygotes (n = 17) had elevated plasma creatinine (164. 1 +/-73. 7 vs. 190. 6 +/-60. 9 vs. 241. 1 +/-86. 2 micromol/l; P < 0. 001) and an increased risk of classic diabetic glomerulopathy (OR 1 vs. 0. 9 vs. 3. 3; P = 0. 026).

aldose reductase

diabetic glomerulopathy


Input: These results suggest a differential contribution of BRCA1 and BRCA2 in the pathogenesis of sporadic breast cancers.

sporadic


Input: This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon.

AGS

AGS


Input: Furthermore, an inverse relationship was observed between miR-29a and p42. 3 expression in gastric cancer cell lines and GC tissue samples, especially in cases where p42. 3 was downregulated.

p42. 3

gastric cancer


Input: In this study, we tested whether increased expression of the chromosome 21 gene RCAN1 contributes to immune dysregulation.

immune dysregulation


Input: More than 20 mutations in the gene encoding for the ryanodine receptor (RYR1), a Ca2 + release channel of the skeletal muscle sarcoplasmic reticulum, have been found to be associated with malignant hyperthermia (MH).

malignant hyperthermia


Input: In cDNA clones from a human gastric adenocarcinoma cDNA library, we have identified two new exons (designated 2a and 2b) between exons 2 and 3 in the 5'-UTR of the gene.

UTR

gastric adenocarcinoma


Input: Of these cases, there were 21 with acute nonlymphocytic leukemia (ANLL), 5 with acute lymphocytic leukemia (ALL), 6 with chronic myelocytic leukemia (CML), 2 with Hodgkin' s disease (HD), 8 with severe-form aplastic anemia (SAA) and 1 with thalassemia.

SAA

aplastic anemia


Input: Our findings in the current HER2-related study indicate that incidentally detected cancer has features of less aggressiveness than clinically detected cancer.

aggressiveness


Input: Although the evidence of an association between the MUC5B genotype and interstitial lung abnormalities was greater among participants who were older than 50 years of age, a history of cigarette smoking did not appear to influence the association.

abnormalities


Input: Double-knockouts lived 47% longer, mice with 50% DDR1 lived 29% longer and showed improved renal function (reduction in proteinuria and blood urea nitrogen) compared to animals with 100% DDR1 expression.

proteinuria


Input: Overexpression of KLF13 and FGFR3 in oral cancer cells.

oral cancer


Input: Thirty-six patients with serious bleeding complications had higher prothrombin time international normalised ratios than 189 warfarin-treated patients without serious bleeding, but there were no significant differences in CYP2C9, CYP3A5 or ABCB1 genotypes and allelic variants.

bleeding


Input: In transient transfection assays, introduction of dominant-negative constructs for both MKK7 and SEK1 abolished hypoxia-induced AP-1 activation.

hypoxia


Input: We conclude that the population of HIV p24-specific CD4 T cells is initially responsive to changes in the levels of viral Ags, but that the majority of these cells are lost in a setting of chronic viremia.

viremia


Input: Furthermore, elevated HSP70 expression was predictive of a period of survival between cocaine use and death that included medical and/or police intervention.

cocaine use

cocaine use


Input: One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms.

sporadic


Input: Human beta-galactosidase gene mutations in morquio B disease.

beta-galactosidase

morquio B disease

beta-galactosidase

morquio B disease


Input: The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration.


Input: FATE/BJ-HCC-2 is a newly identified cancer/testis (CT) antigen, which was detected in tumor tissues and testis.

tumor


Input: Higher 5-HT1A receptor binding potential during a major depressive episode predicts poor treatment response: preliminary data from a naturalistic study.

5-HT1A receptor

major depressive episode

5-HT1A receptor

major depressive episode


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

major depression

major depression


Input: Stress-induced regulation of H19 expression by hypoxic signaling and inflammation suggests that lncRNA H19 acts as a metabolic correlate in cartilage and cultured chondrocytes, while the miR-675 may indirectly influence COL2A1 levels.

inflammation


Input: This enzyme catalyzes the sixth step of the heme biosynthetic pathway, and mutations in the CPO gene have been coupled to HCP.

CPO

HCP

CPO

HCP


Input: The AURKA/TPX2 axis drives colon tumorigenesis cooperatively with MYC.

AURKA

tumorigenesis


Input: Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009).

MIM

hypercalciuria


Input: We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.

FMRP

Fragile-X syndrome

FMRP

Fragile-X syndrome


Input: Using multiple molecular strategies, it was demonstrated that (i) ERG expressed in TMPRSS2-ERG fusion positive VCaP cells selectively binds to specific ERG/Ets bindings sites in the CXCR4 promoter; (ii) distal binding sites mediate promoter activation; (iii) exogenously expressed ERG promotes CXCR4 expression; (iv) ERG is phosphorylated at Serine-81 and-215, by both IKK and Akt kinases, and Akt mediates CXCR4 expression; (v) ERG-induced CXCR4 drives CXCL12-dependent adhesion to fibronectin; and (vi) ERG and CXCR4 were coexpressed in human prostate cancer tissue, consistent with ERG-mediated transcriptional activation of CXCR4.

ERG

adhesion


Input: Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

congenital chloride diarrhea

congenital chloride diarrhea


Input: Based on these observations, we propose a model of an autocrine/paracrine RAS in polycystic kidney disease, whereby overactivity of the intrarenal system results in sustained increases in intratubular ANG II concentrations.

ANG

polycystic kidney disease


Input: Although the role of the breast cancer gene 2 (BRCA2) tumor suppressor gene is well established in inherited breast and ovarian carcinomas, its involvement in sporadic disease is still uncertain.

sporadic


Input: Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP. (Blood. 2001; 98: 1268-1270)

XLP

XLP


Input: Recently, circulating microRNAs (miRNAs) such as miR-122 and miR-192 have emerged as promising biomarkers of liver injury in preclinical species and in DILI patients.

DILI

DILI


Input: In this study, we show that embigin is transcriptionally regulated by Homeobox C8 (HOXC8) in breast cancer cells and embigin expression suppresses breast tumorigenesis.

tumorigenesis


Input: In addition we performed an expression analysis of golli-MBP mRNA in post-mortem dorsolateral prefrontal cortex samples of schizophrenia patients, and matched controls.

golli-MBP

schizophrenia

golli-MBP

schizophrenia


Input: Interestingly, 24% of the cases were translocation negative, and did not contain rearrangements of EWSR1 or FUS by FISH.

translocation


Input: Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA).

EVA

enlargement


Input: In Caucasians, LEP SNPs also tended to be associated with weight (p = 0. 0471), and PYY rs11684664 was associated with obesity-related phenotypes in women only (p = 0. 010-0. 026).

LEP

weight


Input: Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction.

hypoxia


Input: Hepatitis C virus core protein epigenetically silences SFRP1 and enhances HCC aggressiveness by inducing epithelial-mesenchymal transition.

HCC

aggressiveness


Input: The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.

GS

GS


Input: The t (14; 19) (q32; q13) is a recurring translocation found in some patients with chronic lymphocytic leukemia (CLL), and the t (14; 19) juxtaposes the BCL3 gene on chromosome 19 with the immunoglobulin heavy chain gene (IGH) locus on chromosome 14.

BCL3 gene

translocation


Input: We conclude that exogenous E2 administered to male mice may block human IAPP-mediated beta-cell loss both by direct action on beta-cells and by decreasing insulin demand through inhibition of weight gain or increasing insulin action.

IAPP

weight gain


Input: DNA-binding studies and chromatin immunoprecipitation assays using hippocampal extracts from animals with status epilepticus revealed that NF-kappaB subunits were associated with the candidate kappaB-binding elements within promoter 1 of the bdnf gene.

NF-kappaB

status epilepticus


Input: In this report, the effect of SDF-1α or MIF was studied on cell cycle, cell proliferation, adhesion and migration of the CXCR4-expressing colon cancer cell line SW480.

MIF

adhesion


Input: CSF amyloid-β1-42 and tau concentrations and a memory composite score were used to classify participants as normal (both markers normal), preclinical Alzheimer' s disease stage 1-3, or suspected non-Alzheimer pathophysiology (SNAP, abnormal injury marker without abnormal amyloid marker).

SNAP

amyloid


Input: These data demonstrate that Hsp27 inhibits the release of Smac, and thereby confers Dex resistance in MM cells.

MM

MM


Input: These results provide primary evidence that KISS1 and KISS1R expression can be differentially lost in pituitary tumor subtypes, where this system can exert functional, proapoptotic actions, and thereby offer novel insights to investigate the biology and therapeutic options to treat these tumors.

pituitary tumor


Input: AIM: To investigate the expression of myofibrillogenesis regulator-1 (MR-1) in relation to clinicopathological parameters and postoperative survival in a group of Chinese patients with gastric cancer.

gastric cancer


Input: FLG mutations R501X, 2282del4 and R2447X were genotyped in the Prevention and Incidence of Asthma and Mite Allergy birth cohort (n = 934) to evaluate longitudinally, for up to 8 years, their association with eczema, sensitization, asthma, hay fever and their interaction with cat exposure.

FLG

hay fever


Input: Inhibition by specific PLB1 antibodies, or inhibitors of phospholipase B (PLB), but not lysophospholipase (LPL) or lysophospholipase transacylase (LPTA) activities decreased the adhesion of H99 and deltaplb1rec by 33-58%.

LPL

adhesion


Input: A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).

MM

MM


Input: The DNA damage response (DDR) that evolved to repair host cell DNA damage also recognizes viral DNA entering the nucleus during infections.

DDR

infections


Input: Tissue microarray containing 117 samples of gastric cancer and adjacent non-cancer normal tissues was studied for MIF expression by immunohistochemistry (IHC) semiquantitatively, and the association of MIF expression with clinical parameters was analyzed.

MIF

gastric cancer


Input: Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance.

MIM

developmental disorder


Input: ALAD genotype was determined for 94% of these samples (355 glioma, 151 meningioma, 67 acoustic neuroma, and 505 controls).

ALAD

meningioma

ALAD

meningioma


Input: Given these results and reports of immune dysregulation associated with trauma history, we compared plasma cytokine levels in these subjects and found IL4, IL2, and TNFα levels associated with PTSD, child abuse, and TLS.

TLS

immune dysregulation


Input: Somatostatin-producing neuroendocrine tumors (SOM-NETs) of the duodenum and pancreas appear to be heterogeneous.

SOM

neuroendocrine tumors


Input: The aim of the study was to compare peripheral immune cells from obese and normal-weight women with regard to composition of immune cell subpopulations, surface expression of the chemokine receptors (CCRs) CCR2, CCR3, CCR5, and CXCR3 (chemokine (C-X-C motif) receptor 3) and cell-intrinsic migration capacity.

obese


Input: A 4-year-old girl was referred for evaluation for a mild but persistent serum aspartate aminotransferase (AST) elevation detected incidentally during routine blood screening for a skin infection.

AST

mild


Input: STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation.

preeclampsia

preeclampsia


Input: In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER.

XPG

XPG

XPG

XPG


Input: GISTs are characterized by abnormalities of the KIT and PDGFRA receptors that affect prognosis and response to tyrosine kinase inhibitors.

PDGFRA

abnormalities


Input: Suppression of neovascularization through reduction of vascular endothelial growth factor and inhibition of tumor cell cycling is modulated mainly through activation of CRFR2.

neovascularization


Input: PDE10A has been implicated in the pathophysiology of psychosis.

psychosis

psychosis


Input: Mutations in the p63 gene have been identified in five human disorders characterized by varying degrees of limb anomalies, ectodermal dysplasia, and facial clefts.

facial clefts


Input: The purpose of this review is to discuss current advances in our understanding of the function of the GRO-α/CXCR2 system and related clinical implications associated with autoimmune diseases, such as primary Sjogren' s syndrome (pSjS).

autoimmune diseases


Input: The data showed that in the Italian population, FSHR genotypes have no influence on FSH concentrations both in normal and infertile males and do not associate with spermatogenetic impairment.

FSHR

infertile


Input: Western blot analysis of kidney tumors formed following treatment of Tsc-2 (EK/+) rats with TGHQ for 8 months revealed increases in B-Raf, Raf-1, pERK, cyclin D1, 4EBP1, and p-4EBP1-Ser65,-Thr70, and-Thr37/46 expression.

kidney tumors

kidney tumors


Input: The inhibition of APE1 expression in A549 cells was most significant after 48 hours of infection by Ad5/F35-APE1 siRNA recombinant adenovirus (10 MOI).

adenovirus


Input: The purpose of this study is to evaluate the immunohistochemical expression of Hsp90 and to examine whether Hsp90 expression is associated with estrogen receptor alpha (ER-alpha) and beta (ER-beta) immunostaining in lobular neoplasia (LN) of the breast.

ER-beta

lobular neoplasia


Input: To investigate the mechanism of MHV-induced demyelination, we examined whether the S gene of MHV contains determinants of demyelination and whether demyelination is linked to viral persistence.

S gene

demyelination


Input: s-FKN is shed from ECs following hypoxia/reoxygenation and acts through CX3CR1 on ECs to increase ICAM-1 expression and promote neutrophil adhesion through activation of the Jak-Stat5 pathway.

hypoxia


Input: Hypermethylation was detected in 78. 9% of esophageal adenocarcinomas, in 100% of Barrett' s intraepithelial neoplasia, in 88. 9% of Barrett' s metaplasia, but only in 21. 4% of normal esophageal mucosa samples (P < 0. 001) and correlated significantly with downregulation of MGMT transcripts (P = 0. 048) and protein expression (P = 0. 02).

MGMT

intraepithelial neoplasia


Input: The Seventh Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure in 2003 created a prehypertension category for persons with blood pressures ranging from systolic blood pressure (SBP) of 120-139 mm Hg or diastolic blood pressure (DBP) from 80 to 89 mm Hg, due to increased risk of cardiovascular disease.

DBP

systolic blood pressure


Input: Isolates with AgI/II type A versus types B (1) and B (2) tended to differ in gp340 binding avidity and qualitative adhesion profiles for saliva gp340 phenotypes.

adhesion


Input: The molecular genetic changes in sporadic VS identified here included mutations and allelic loss, but no aberrant hypermethylation of the NF2 gene was detected.

NF2 gene

sporadic


Input: If the levels of beta (3)-AR were too high, they might contribute to the loss of cardiac function and be the foundation of the functional degradation of HF.

beta (3)-AR

HF

beta (3)-AR

HF


Input: Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002.

NISCH

cholangitis


Input: In cardiomyocytes pretreatment with SP600125, a JNK inhibitor, suppressed the cardiomyocytes hypertrophy by inhibiting the ASK1/JNK pathway.

JNK

hypertrophy


Input: It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21. 7%) of 161 sporadic pheochromocytomas in two independent tumor series.

NF1 gene

sporadic


Input: Overall, 24 patients (17 with leukemia, 4 with SAA, and 3 with thalassemia) suffered graft failure: 10 patients (all grafted with Campath-1M) rejected their grafts, while 14 others (9 grafted with Campath-1M, and 5 with 1G isotype) never engrafted (p = 0. 009).

SAA

leukemia


Input: Furthermore, the levels of miR-21 were significantly higher in the COPD patients and asymptomatic heavy smokers than in the HC (P < 0. 001), while the levels of miR-181a were significantly lower in the COPD patients and asymptomatic heavy smokers than in the HC (P < 0. 001).

asymptomatic


Input: In regression models that adjusted for epidemiological confounders, the NQO1 and the NFE2L2 SNPs were associated with BPD and severe BPD, respectively.

regression


Input: Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Marfan syndrome

Marfan syndrome


Input: Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

primary lymphoedema

primary lymphoedema


Input: We found that hyperoxia-induced Nox4 expression was markedly reduced in Nrf2 (-/-) mice, compared to Nrf2 (+/+) mice.

hyperoxia


Input: UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.

sporadic


Input: Our results suggested that TRPA1 is involved in ET-1-induced spontaneous pain-like behavior in mice.

pain

pain


Input: This patient, together with the AST-1 cell line, provided us a unique opportunity to study the development and clonal evolution of malignant lymphoma.

AST

malignant lymphoma


Input: Later, a physical examination was performed, including the measurement of systolic blood pressure (SBP) and diastolic blood pressure (DBP), body mass index (BMI) and waist-to-hip ratio (WHR).

DBP

systolic blood pressure


Input: We confirmed these microarray data by measuring levels of NEP expression in all subjects; in addition, we found that NEP gene expression correlated inversely with proteinuria.

NEP

proteinuria


Input: Eighty female mice were randomized into four groups: group 1 consisted of 20 mice that received MSCs only by intrahepatic injection; group 2 consisted of 20 HCC mice induced by inoculation of Hepa 1-6 cells into livers without MSC treatment; group 3 consisted of 20 mice that received MSCs after induction of liver cancer; group 4 consisted of 20 mice that received MSCs after induction of liver cancer on top of induced biliary cirrhosis.

HCC

biliary cirrhosis


Input: To substantiate this genetic evidence, the NOP receptor antagonist 1-[(3R, 4R)-1-cyclooctylmethyl-3-hydroxymethyl-4-piperidyl]-3-ethyl-1, 3-dihydro-2H benzimidazol-2-one (J-113397) simultaneously reduced akinesia and nigral glutamate levels in reserpinized NOP (+/+) mice, being ineffective in NOP (-/-) mice.

NOP

akinesia


Input: A total of 122 TB patients and 166 healthy controls (N = 166) negative for human immunodeficiency virus infection were examined for IL1B-511 and + 3, 953, TAP1 and TAP2 and IKBL + 738 polymorphisms.

IKBL

human immunodeficiency virus infection


Input: Our data indicate a possible role of the c-erbB-2 gene in the development of aggressive behavior in bladder tumors.

c-erbB-2 gene

aggressive behavior


Input: These results suggest a co-regulation of NPR-B and CNP expression supporting the relevance of this receptor in human disease characterized by a marked inflammatory/immune component and suggesting the possibility of manipulating inflammation via pharmacological agents selective for this receptor.

CNP

inflammation


Input: Whether adjusted for MCL International Prognostic Index (MIPI) or not, deletions of RB1, CDKN2A, TP53, and CDKN1B were associated with shorter overall survival (OS), similarly in both treatment arms, whereas CNAs in MYC, ATM, CDK2, CDK4, and MDM2 had no prognostic value.

ATM

arms


Input: RNA inhibition and cDNA transfection experiments tested effects of stathmin under-and overexpression, respectively, on the in vitro and in vivo resistance of malignant glioma cells to treatment with nitrosourea.

stathmin

malignant glioma

stathmin

malignant glioma


Input: In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling.

MYOC

juvenile glaucoma

MYOC

juvenile glaucoma


Input: All the patients with familial ANFH whom we studied carried COL2A1 mutations.

ANFH

ANFH


Input: The-403 G--> A promoter polymorphism in the RANTES gene is associated with atopy and asthma.

RANTES

atopy


Input: RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome.

Roifman Syndrome

Roifman Syndrome


Input: Screening of the genetic variations of the MEN1 gene revealed four germline mutations in five typical MEN1 families.


Input: The aim of this study was to describe the immunohistochemical reactivity of the cells in sebaceoma to Ber-EP4 and epithelial membrane antigen (EMA) and investigate the utility of this panel to differentiate sebaceoma from basal cell carcinoma.

basal cell carcinoma


Input: We found seven significant associations between CAMK2A SNPs and alcohol dependence, one of which in an autophosphorylation-related area of the gene.

alcohol dependence

alcohol dependence


Input: We then examined the in vitro effect of hypoxia mimicked by CoCl2 on mRNA and protein expression of HIF-1alpha and CDX2 using two human colon cancer cell lines, SW480 and LS174T.

hypoxia


Input: On chromosome 11 the translocation targets the human homologue of NUP98, a member of the GLFG nucleoporin family.

translocation


Input: In addition, two amino acid substitutions in the extracellular domain of HLA-DQ & #945; 1 at position 41 (lysine encoded by HLA-DQA1 * 01: 03; P = 5. 60 & #215; 10 (-10)) and of HLA-DQ & #946; 1 at position 45 (glutamic acid encoded by HLA-DQB1 * 03: 01 and HLA-DQB1 * 03: 04; P = 1. 20 & #215; 10 (-9)) independently confer achalasia risk.

achalasia

achalasia


Input: Desmoplastic small round cell tumor represents the third tumor type associated with translocation of EWS and the first tumor associated with consistent translocation of WT1.

EWS

translocation


Input: IRX1 methylation was studied by methylation specific polymerase chain reaction (MSP) and bisulfate sequencing polymerase chain reaction (BSP) methods in gastric mucosa tissues from H. pylori-positive chronic gastritis patients or H. pylori-negative chronic gastritis patients.

BSP

chronic gastritis


Input: We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma.

retinoblastoma

retinoblastoma


Input: We hypothesized that the gene polymorphism (allele2 of IL-1β) would influence host response and enhance inflammatory reactions predisposing to persistent apical periodontitis (PAP).

PAP

apical periodontitis


Input: Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2. 01 [95% CI: 1. 027-3. 936, P < 0. 05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.

FLG

hay fever


Input: Inactivation of CIC relieves repression of its effector ETV4, driving ETV4-mediated upregulation of MMP24, which is necessary and sufficient for metastasis.

metastasis

metastasis


Input: Our results indicate that renin gene Mbo I site polymorphism is not associated with blood pressure levels and risk of hypertension.

renin gene

blood pressure


Input: The Forkhead Box m1 transcription factor stimulates the proliferation of tumor cells during development of lung cancer.

Forkhead Box m1

lung cancer

Forkhead Box m1

lung cancer


Input: However, surfactant protein-C/TNF-alpha transgenic mice do not spontaneously develop pulmonary fibrosis but instead develop alveolar enlargement and loss of elastic recoil.

TNF-alpha

enlargement


Input: Taken together, our findings link LBH for the first time to the Wnt signaling pathway in both development and cancer and highlight LBH as a potential new marker for therapeutically challenging basal-like breast cancers.

LBH

cancer


Input: ATM IVS22-77 associated with the increased risk of sporadic PTC (OR = 1. 84, 95% CI 1. 10-3. 24) whereas TP53 Arg72Pro correlated with the higher risk of radiogenic PTC (OR = 1. 80, 95% CI 1. 06-2. 36).

sporadic


Input: Allelic variants of SCN5A did not contribute to risk of sudden cardiac arrest in this primarily Caucasian population with significant CAD.

sudden cardiac arrest


Input: The beta2/beta1 adrenoceptor ratio increases in congestive heart failure (CHF), making the heart relatively more dependent on inotropic, lusitropic, and chronotropic stimulation by the beta2-adrenergic receptor (ADRB2).

congestive heart failure


Input: Therefore, CRIP1 may be an independent prognostic marker with significant predictive power for use in breast cancer therapy.

breast cancer


Input: Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia.

periventricular neuronal heterotopia

periventricular neuronal heterotopia


Input: Univariate survival analysis revealed that high SOX18 (p = 0. 0125) expression, presence of residual disease (p < 0. 0001) and advanced disease stage (p < 0. 0324) predicted poor patient outcome.

residual disease


Input: Arsenite treatment upregulated surface levels of death receptors, TRAIL-R1 and TRAIL-R2, through increased translocation of these proteins from cytoplasm to the cell surface.

translocation


Input: Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (TH) deficiency (type B) and subsequent molecular analysis revealed two novel heterozygous mutations c. 636A > C and c. 1124G > C in the TH gene.

TH gene

microcephaly


Input: We show that aneuploidy impairs induction of the heat shock response suggesting that the activity of the transcription factor heat shock factor 1 (HSF1) is compromised.

aneuploidy


Input: 1alpha, 25 (OH) 2D (3) induced the expression of E-cadherin and other adhesion proteins (occludin, Zonula occludens [ZO]-1, ZO-2, vinculin) and promoted the translocation of beta-catenin, plakoglobin, and ZO-1 from the nucleus to the plasma membrane.

occludin

adhesion


Input: In cell culture systems, overexpression of Emi1 leads to tetraploidy and genomic instability, especially in the absence of normal p53 function.

genomic instability


Input: In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome.

SOFT

short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome

SOFT

short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome


Input: Increased expression of aldolase A in endotoxemic rats is mediated by both hypoxia-dependent and hypoxia-independent mechanisms.

aldolase A

hypoxia


Input: Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG.

ACG

ACG


Input: Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.

BPAD

BPAD


Input: We measured coronary artery calcification (CAC), aortic calcification (AC), and bone mineral density (BMD) in 682 men and women from large Old-Order Amish families.

CAC

coronary artery calcification


Input: Transduction of TAZ enhanced cell proliferation and tumorigenesis in bronchial epithelial cells, whereas TAZ silencing suppressed cell proliferation and induced cell cycle arrest in NSCLC cells.

TAZ

tumorigenesis


Input: No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2. 8%) and CTRC in 2 (1. 4%) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2. 6%) case each.

CTRC

mild


Input: Taken together, our results implicate TP53, EP300, LPHN2, C10orf137, MYH2, TGM2 and MS4A3 as potential driver genes of squamous cell lung cancer.

squamous cell lung cancer


Input: IL-4 may aggravate the disease by interfering with type 1 T helper cell differentiation or by promoting local inflammation at sites of parasite sequestration.

inflammation


Input: Together, these results suggest a direct role for VDUP1 in the adverse effects of ischemia and oxidative stress on cardiomyocyte survival, left ventricular collagen deposition, and cardiac function.

ischemia


Input: Role of APAF-1, E-cadherin and peritumoral lymphocytic infiltration in tumour budding in colorectal cancer.

E-cadherin

lymphocytic infiltration


Input: Interestingly, the effects of recombinant CCN2 peptide on U-CH1 cells were more pronounced under normoxia than hypoxia, promoting increased expression of CCN1, CCN2, CCN3 and CCN5, the notochord-associated markers SOX5, SOX6, T, CD24, and FOXA1 as well as increased tumour-sphere formation.

hypoxia


Input: Ancient origin of the CTH alelle carrying the c. 200C & gt; T (p. T67I) variant in patients with cystathioninuria.

CTH

cystathioninuria

CTH

cystathioninuria


Input: Hypermethylation was detected in 78. 9% of esophageal adenocarcinomas, in 100% of Barrett' s intraepithelial neoplasia, in 88. 9% of Barrett' s metaplasia, but only in 21. 4% of normal esophageal mucosa samples (P < 0. 001) and correlated significantly with downregulation of MGMT transcripts (P = 0. 048) and protein expression (P = 0. 02).

MGMT

esophageal


Input: We assessed osteocalcin, C-terminal telopeptide of type I collagen, ACTH, cortisol after the dexamethasone suppression test (F-1mgDST), BclI and N363S single-nucleotide polymorphisms (SNPs) of glucocorticoid receptor, lumbar spine and femoral neck bone mineral density by dual x-ray absorptiometry, and VFx by radiography.

ACTH

bone mineral density


Input: CCN2 (CTGF) functions downstream of transforming growth factor (TGF)-beta, driving increased extracellular matrix (ECM) accumulation and fibrosis.

ECM

fibrosis


Input: ARG1 was positively correlated with NLR (r = 0. 57, p = 0. 003), neutrophil count (r = 0. 526, p = 0. 007), NIHSS (r = 0. 607, p = 0. 001), and infarct volume (r = 0. 27, p = 0. 051).

infarct


Input: Intracellular expression of heat-shock-protein 70 (HSP70) arose early in evolutionary development as a tool to protect cellular homeostasis.

shock


Input: Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

congenital variant of Rett syndrome

congenital variant of Rett syndrome


Input: Increased assembly of the active eIF4G-eIF4E complex was associated with a robust rise in phosphorylation of eIF4G (Ser (1108)) and a decreased assembly of inactive eIF4E binding protein-1 (4E-BP1)-eIF4E complex in both sterile inflammatory and septic rats.

sterile


Input: We found no direct association between lung cancer risk and any of the DNA repair genotypes studied, however, the association between XPD codon 751 genotype and lung cancer was modified by alpha-tocopherol supplementation, and the association between XRCC1 codon 399 genotype and lung cancer was modified by the amount of smoking.

smoking


Input: We conclude that smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.

smoking


Input: We now demonstrate that co-administering purified Escherichia coli O55 lipopolysaccharide (LPS), at a dosage of 300 ng/g body weight, to HuSAP-transgenic mice increases their susceptibility to the lethal effects of Stx2.

body weight


Input: Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.

Meis 1

breast cancer

Meis 1

breast cancer


Input: Positive correlation of CD11c with HEV viral load suggested that increased frequencies of the same might be associated with HEV replication.

viral load


Input: Knockdown of GAB2 phenocopies knockdown of JNK2 in vivo by reducing tumor growth and metastasis, supporting that JNK2 mediates tumor progression by regulating GAB2.

metastasis

metastasis


Input: The mutations/polymorphisms studied included Factor V Leiden, prothrombin variant G20210A, beta-fibrinogen 448 (G/A), endothelial protein C receptor (23-base pair insertion), methyl tetrahydrofolate reductase 677 (C/T), platelet glycoprotein IIIa PlA1/A2, plasminogen activator inhibitor-1 4G/5G, angiotensin II type 1 receptor (A/C), hemochromatosis gene 282 (G/A), nitric oxide synthase (NOS) (3 forms: eNOS, eNOS3, eNOS4), p22 phox of NADPH oxidase C242T, and angiotensin-converting enzyme insertion/deletion polymorphism.

endothelial protein C receptor

fibrinogen


Input: Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

cone-rod dystrophy

cone-rod dystrophy


Input: We present 14 patients, with characteristic features of mitochondrial disease including progressive external ophthalmoplegia (PEO) and Alpers-Huttenlocher syndrome and laboratory findings indicative of mitochondrial dysfunction, including cytochrome c oxidase (COX) deficiency and multiple deletions or depletion of the mitochondrial DNA.

COX

progressive external ophthalmoplegia


Input: In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4-CD8-T cells that express the alpha/beta T-cell receptor.

hypergammaglobulinaemia


Input: Altogether, these data demonstrate a novel mechanism for suppressing the activity of B cells and suggest a potential role for CD300a in the B-cell dysfunction observed in HIV-induced immunodeficiency.

immunodeficiency


Input: spp1 is expressed during embryogenesis, wound healing, and tumorigenesis; however, its in vivo functions are not well understood.

tumorigenesis


Input: We also tested these LCTs for mutations in two genes, the LH/choriogonadotropin receptor (LHCGR) and the guanine nucleotide-binding protein alpha (GNAS) that had been implicated in LCT tumorigenesis.

LHCGR

tumorigenesis


Input: Large subcutaneous H22 HCCs (0. 7-0. 8 cm in diameter) established in BALB/c mice were rapidly and completely eradicated when intratumoral administration of As (2) O (3) was preceded by in situ gene transfer of B7H3.

HCC

HCC


Input: ZNRD1 mediates resistance of gastric cancer cells to methotrexate by regulation of IMPDH2 and Bcl-2.

gastric cancer


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 findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.

EGFR

gastric cancer

EGFR

gastric cancer


Input: The I/D polymorphism of the ACE gene does not appear to contribute to the biochemical and phenotypic characteristic of APA, however, the deletion of the insertion allele of the ACE gene I/D polymorphism in 16% of aldosterone-producing adenomas may represent the loss of a tumour suppressor gene/s or other genes on chromosome 17q which may contribute to tumorigenesis in APA.

APA

tumorigenesis


Input: Most importantly, the expression of FBXO40 can be upregulated in skeletal muscle from denervation-but not starvation-related muscle atrophy.

muscle atrophy


Input: Prospective analysis of DNA ploidy, proliferative index and epidermal growth factor receptor as prognostic factors for pretreated uterine cancer.

epidermal growth factor receptor

uterine cancer


Input: Somatic mutations of BRCA2 are rare in typical sporadic cancers.

sporadic


Input: In pancreatic juice, cyclin D2 methylation was detected in 9 of 22 (40. 9%) samples from patients with pancreatic cancer and in 6 of 9 (66. 7%) patients with IPMNs, but in none of 20 non-neoplastic controls, respectively (P = 0. 0013 and P < 0. 0001, respectively).

cyclin D2

non-neoplastic


Input: A novel missense mutation (codon 351, GCT (Ala)--& gt; CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B.

FIX

hemophilia B

FIX

hemophilia B


Input: We have identified two different exonic mutations causing GalNAc6S sulfatase deficiency in two unrelated Japanese families, in one patient with classical Morquio disease, and in two brothers with a mild form of MPS IVA.

GalNAc6S sulfatase

MPS IVA

GalNAc6S sulfatase

MPS IVA


Input: Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes.

asthma


Input: To verify if this process might possibly contribute in the pathogenesis of schizophrenia post mortem brains of patients suffering from this disease were analysed immunohistochemically for the presence and co-localization of cathepsin K and beta-EP.

cathepsin K

schizophrenia

cathepsin K

schizophrenia


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

lung tumor

lung tumor


Input: Transforming growth factor-β (TGFβ) and bone morphogenetic proteins (BMP) are important regulators of fibroblast proliferation and matrix deposition, but little is known about the TGFβ superfamily in fibromatosis.

TGFβ

fibromatosis


Input: Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

RET

Congenital central hypoventilation syndrome

RET

Congenital central hypoventilation syndrome


Input: Using mouse models for pancreatic ductal adenocarcinoma and lung adenocarcinoma, we found that abrogating SMYD3 catalytic activity inhibits tumour development in response to oncogenic Ras.

pancreatic ductal adenocarcinoma


Input: The relationship between FOXL2 mutation and cytogenetic abnormalities is unclear, although both are presumably early events in tumorigenesis.

tumorigenesis


Input: Acute administration of both CAPE and alpha-tocopherol suppressed ischaemia-reperfusion-induced cerebral lipid peroxidation and injury, but CAPE seems to offer a better therapeutic advantage over alpha-tocopherol.

CAPE

ischaemia


Input: Conflicting results of an association of the human platelet antigen 1b (HPA-1b/PlA2), localized on the beta-subunit of the integrin alpha (IIb) beta3, and the alpha (2) 807TT genotype of the integrin alpha2beta1 with coronary atherosclerosis and myocardial infarction have been reported.

myocardial infarction


Input: Treatment of glioma cells with the demethylating agent 5-aza-2'-deoxycytidine restores the transcription of SGNE1/7B2.

glioma


Input: VEGF and EGF play a major role in non-small-cell lung cancer (NSCLC) tumor angiogenesis and aggressiveness.

EGF

aggressiveness


Input: Hence, our study highlights the potential molecular mechanism (s) mediating the oncogenic role of GRP/GRP-R and demonstrates a novel role for AKT2 in neuroblastoma tumorigenesis, indicating that targeting the GRP/GRP-R/AKT2 axis may be important for developing novel therapeutics in the treatment of clinically aggressive neuroblastoma.

GRP

tumorigenesis


Input: Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.

kidney injury molecule-1

acute kidney injury

kidney injury molecule-1

acute kidney injury


Input: These results provide previously unknown evidence that upregulation of NaV1. 9, but not NaV1. 8, in small-sized DRG neurons contributes to melittin-induced heat hypersensitivity.

NaV1. 8

hypersensitivity


Input: Carcinoembryonic antigen (CEA) has been recently implicated in the process of human colon cancer liver metastasis by means of an adhesion mechanism.

CEA

adhesion


Input: To determine whether P2X (7) has a role in susceptibility to congenital toxoplasmosis, we examined polymorphisms at P2RX7 in 149 child/parent trios from North America.

congenital toxoplasmosis


Input: No causative genes have been identified in trisomy 3p patients, but for the 3p-syndrome, there is growing evidence that monosomy for one or more of four genes at 3pter, CHL1, CNTN4, CRBN, and MEGAP/srGAP3, may play a causative role.

CRBN

monosomy


Input: Comparative studies of two-dimensional monolayer and three-dimensional collagen-gel cultures revealed that extensive cell-to-cell contacts, wild-type ALCAM, and cell-to-matrix interactions were all indispensable for efficient conversion of pro-MMP-2 to its active form in metastatic melanoma cells.

ALCAM

metastatic melanoma


Input: PURPOSE: To perform mutational screening of the visual system homeobox gene 1 (VSX1; MIM #605020) in patients with sporadic and familial keratoconus (MIM #148300) in a European population and, for the first time, report the mutational analysis of the two newly identified VSX1exons.

MIM

keratoconus


Input: By the use of flow cytometry, the proliferative index (PI), S-phase fraction (SPF) and DNA ploidy were detected to evaluate the proliferation of tumor cells in 58 meningioma specimens.

SPF

meningioma


Input: The present study suggests that, at least in our panel of TGCT cell lines, hypersensitivity for cisplatin-induced apoptosis might not be necessarily correlated with the presence of wild-type p53 and is probably not associated with Bcl-2 and Bax expression.

hypersensitivity


Input: Moreover, conditional deletion of Atg7, an essential regulator of autophagy, in mouse forebrain neurons is sufficient to promote development of spontaneous seizures.

seizures


Input: In contrast to the Ras oncogene, ARHI has been shown to have anti-proliferative effects, but the mechanisms by which it inhibits pancreatic cancer cell proliferation and induces cell cycle arrest remain unclear.

ARHI

pancreatic cancer


Input: ACPA were detected by ELISA on cyclic citrullinated peptides and on human deiminated fibrinogen.

ACPA

fibrinogen


Input: Overall presenilin expression and the relative abundance of full-length and amino-terminal fragments in presenilin FAD cases were similar to control cases and sporadic AD cases.

FAD

sporadic


Input: Secondary cell-based analysis demonstrated that stresscopin and FoxD3 are increased in neurons of DLPFC gray matter of MDD subjects.

stresscopin

MDD

stresscopin

MDD


Input: Effect of treatment of rheumatoid arthritis with infliximab on IFN gamma, IL4, T-bet, and GATA-3 expression: link with improvement of systemic inflammation and disease activity.

inflammation


Input: One of them, junction plakoglobin (JUP-81) and its smaller isoforms (referred to as JUP-63, JUP-55 and JUP-30 by molecular weight) were confirmed by immunohistochemistry and immunoblotting with independent antibodies to be present in atherosclerotic plaques and their secretomes, coronary thrombi of patients with acute coronary syndrome (ACS) and macrophages differentiated from peripheral blood monocytes as well as macrophage-like cells differentiated from THP1 cells.

acute coronary syndrome


Input: This double-blind, randomised, placebo-controlled phase 2 study investigated selumetinib plus dacarbazine versus placebo plus dacarbazine as first-line treatment in patients older than 18 years with histologically or cytologically confirmed advanced BRAF-mutant cutaneous or unknown primary melanoma.

BRAF

blind


Input: Intratumor and intraperitoneal administration of IL-4 (38-37)-PE38KDEL caused a dose dependent regression of established tumors.

regression


Input: DDC was found to be overexpressed, at the mRNA level, in the specimens from prostate cancer patients, in comparison to those from benign prostate hyperplasia patients (p < 0. 001).

DDC

benign prostate hyperplasia


Input: We present a three first-degree relative Italian family (proband, his mother and his sister) with a mild DM2 phenotype associated with a short (CCTG) (100) expansion as far as regards the proband and his mother, while his sister shows larger expansion correlated to a more severe phenotype.

CCTG

mild


Input: Interestingly, alteration of the fragile FHIT locus and loss of Fhit protein expression were significantly more frequent in sporadic CRCs lacking Msh2 protein, suggesting that this mismatch repair protein may be important in maintaining the integrity of the common fragile locus within the FHIT gene.

sporadic


Input: These findings may be indicative of pS2 and DNA ploidy alterations and tumour aggressiveness.

aggressiveness


Input: Embigin, regulated by HOXC8, plays a suppressive role in breast tumorigenesis.

tumorigenesis


Input: The expression of vascular endothelial growth factor (VEGF), p53 protein, and proliferative potential with Ki67 monoclonal antibody (MIB-1) was compared using immunohistochemical methods between sporadic and VHL disease-associated hemangioblastomas.

sporadic


Input: We and others have previously shown that aggregation occurs by a pathway involving dimer dissociation, metal-loss from monomers and multimeric assembly of apo-SOD1 monomers.

dissociation


Input: It was reported that miR-338-3p levels are associated with clinical aggressiveness of HCC.

HCC

aggressiveness


Input: In the applied ischaemia model, the entire ipsilateral cortical hemisphere and hippocampus experienced sustained excitation as indicated by a long-lasting increase in the expression of arg 3. 1/arc (ARG) mRNA, a marker for neuronal activity.

ARG

arc


Input: Human kallikrein 10 (hK10) protein is expressed in normal breast but is significantly downregulated in a majority of invasive breast cancers.

breast cancers

breast cancers


Input: These data provide new insights into the action of lipocalin 2 and raise the possibility that the administration of lipocalin 2 may be useful for inhibiting tumor angiogenesis, in addition to suppressing tumor metastasis, in cancers which show ras activation.

lipocalin 2

cancers

lipocalin 2

cancers


Input: Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

NRAS

neurocutaneous melanosis

NRAS

neurocutaneous melanosis


Input: CA1 pyramidal neurons degenerate after transient forebrain ischemia, whereas neurons in other regions of the hippocampus remain intact.

ischemia


Input: Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.

major depression

major depression


Input: Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory chain, have been identified, the molecular mechanisms leading to tumorigenesis are unknown.

SDHD

tumorigenesis


Input: Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients.


Input: Thus, hypermethylation of DOK1 is a potentially critical event in human carcinogenesis, and may be a potential cancer biomarker and an attractive target for epigenetic-based therapy.

carcinogenesis


Input: In addition, in STZ-treated rats there was increased GRK2 translocation to proximal tubular membrane and increased basal serine D1-like receptor phosphorylation.

translocation


Input: We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).

IGF

scars


Input: Here we report the expression of major pyrimidine metabolising enzymes in pancreatic cancer cell lines, chronic pancreatitis tissue and human pancreatic cancer and the in vitro uptake of 3'-[(18) F] fluoro-3'-deoxythymidine ([(18) F] FLT).

FLT

chronic pancreatitis


Input: These genes are: rod opsin, the alpha-subunit of rod phosphodiesterase, RDS-peripherin, rod outer membrane (ROM) protein, ornithine aminotransferase (OAT), choroideremia gene product (CHM), tissue specific inhibitor of metalloproteinases-3 (TIMP-3), and red/green photoreceptor pigment protein.

peripherin

pigment


Input: In the frontal inferior cortex (FIC), sensory postcentral cortex (SPCC) and occipital primary cortex (OPC) from Swedish FAD, the parameters of oxidative injury tended to be higher than in sporadic AD.

FAD

sporadic


Input: B-cell depletion prevented or reversed established rMOG-induced EAE, which was associated with less central nervous system (CNS) inflammation, elimination of meningeal B cells, and reduction of MOG-specific Th1 and Th17 cells.

inflammation


Input: No association was found between WNK1 polymorphisms or haplotypes with hypertension; however, one SNP rs1468326, located 3 kb from the WNK1 promoter, was found to be nominally associated with severity of hypertension, with both systolic blood pressure (BP) (Z = + 2. 24, P = 0. 025) and diastolic BP (Z = + 1. 99, P = 0. 046).

systolic blood pressure


Input: We suggest that high levels of DEFAS, DEFA6 (key elements in adenoma formation), MMP7 (marker of colon cancer onset and progression to metastasis), SPP1 (marker of progression) and IL8 could be used to diagnose an early stage colon cancer and to evaluate the prognostic of progression for colon tumors.

colon cancer


Input: Here, we have assayed the effects of the CHK1 inhibitors, AZD7762 and UCN-01, during various hypoxic conditions and after reoxygenation in the absence and presence of ionizing radiation.

hypoxic


Input: Furthermore, clinical parameters of inflammation and bone destruction of 262 RA patients were correlated with the presence of the DECTIN-1 Y238X polymorphism.

inflammation


Input: The AKT/mTOR signaling pathway was markedly activated in the early phase of cirrhotic portal hypertension induced by BDL in rats.

AKT

portal hypertension


Input: The effects of cannabinoid receptor agonists and antagonists on pain-related responses to CRD were assessed in rats and in wild-type and CB (1) receptor knock-out mice.

CB (1

pain

CB (1

pain


Input: Reasons of the reported rare incidence could be related to very few studies focusing on the mutational analysis of BRCA2 in sporadic tumors.

sporadic


Input: Moreover, the expression of genes involved in cell growth, invasion and adhesion, i. e., IGF-2, MMP9 and MPZL2 was significantly decreased following siRNA-mediated silencing of PACE4.

adhesion


Input: Treatment of hypoxic tumor cells with HMGB1 and BzATP ligands, respectively, of RAGE and P2X7R, activated a signaling pathway that, through Akt and Erk phosphorylation, determines nuclear accumulation of NF-κB and increases cell invasion.

RAGE

hypoxic


Input: ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Primary Macronodular Adrenal Hyperplasia

Primary Macronodular Adrenal Hyperplasia


Input: In erythromelalgia case 7, we identified a novel Q10 > K mutation.

erythromelalgia


Input: The amino acid sequence of CETP was deduced from the cDNA sequence and its primary and secondary structures were predicted.

CETP

secondary


Input: Small differences were found in the main clinical and pathologic features; however, tumour burden per family tended to be higher in kindred sharing the founder mutation; in addition, multiple primaries (four or five different tumours in some subjects) were significantly more frequent in patients with the 2269-2270insT than in individuals with MSH2, MLH1 gene mutations or sporadic colorectal neoplasms.

sporadic


Input: The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells).

CFTR

epithelial tumour


Input: Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.

mono


Input: Dutch Caucasian women were investigated for (i) the role of interleukin-1B (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms in tubal pathology (group 1); and (ii) the presence of these gene polymorphisms in C. trachomatis IgG-positive women with and without tubal pathology (group 2).

trachomatis


Input: Diffuse parvalbumin expression was seen in all 41 of 41 (100%) chromophobe RCCs and only in 26 of 55 (47%) oncocytomas.

parvalbumin

oncocytomas

parvalbumin

oncocytomas


Input: Adhesion to lung epithelium is the first step in this process, therefore we investigated the role of PLB1 in adhesion to a human lung epithelial cell line, A549, using C. neoformans var.

adhesion


Input: This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.

APP

AD

APP

AD


Input: Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

campomelic dysplasia

campomelic dysplasia


Input: These results define a mechanism for cellular signaling by GHRH and provide the opportunity to examine the role of the GHRH receptor in growth abnormalities that involve the GH axis.

GHRH

abnormalities


Input: These results indicate the oncogenic effect of the t (11; 22) translocation is mediated by the EWS/WT1 (-KTS) isoform and that fusion of the EWS amino terminal domain to the WT1 DNA binding domain produces a chimeric product showing a gain of function.

EWS

translocation


Input: Expression of a EWS-WTI gene-fusion product associated with a t (11; 22) translocation was found in the DSRCT.

EWS

translocation


Input: Here we identify GIV as a metastasis-related protein whose full-length transcript (GIV-fl) is expressed exclusively in highly invasive colon, breast, and pancreatic carcinoma cells and not in their poorly invasive counterparts.

GIV

pancreatic carcinoma


Input: Furthermore, S1P as an intracellular messenger induced the phosphorylation and nuclear translocation of the p65 subunit of NF-kappaB and in turn the expression of E-selectin and monocyte adhesion.

NF-kappaB

adhesion


Input: The present study investigated the comparative expression of NCX and NCKX between a constricted DA and patent DA in human ductal-dependant congenital heart disease.

NCKX

congenital heart disease


Input: The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease.

FALDH

SLS

FALDH

SLS


Input: The patient, currently aged 12 years, shows a normal physical and psychomotor development. This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.

FAH

tyrosinemia type I

FAH

tyrosinemia type I


Input: The differentially mutational spectra of the APC, K-ras, and p53 genes in sporadic colorectal cancers from Taiwanese patients.

p53 genes

sporadic


Input: We performed whole-exome sequencing and targeted deep sequencing using DNA from the patient' s whole blood to identify a possible NLRP3 somatic mutation.

somatic mutation


Input: In conclusion, we describe herein a new mutation in the KCNJ5 potassium channel associated with FH-III, responsible for marked alterations of channel function but associated with a mild clinical and hormonal phenotype.

mild


Input: Mucin-producing tumors (MPTs) of the pancreas accompanied by carcinomas usually include various grades of dysplasia in the ductal epithelium, and invasive areas are histologically similar to those of common invasive ductal carcinomas, suggesting that MPTs provide a good tool to investigate early stages of pancreatic carcinogenesis.

MPTs

carcinomas


Input: Our results suggest that mutation of the class I beta-tubulin gene is unlikely to play an important role in the mechanism of resistance to paclitaxel in breast cancer.

class I beta-tubulin

breast cancer


Input: To investigate whether KIR and HLA genes could influence the risk of HBV-associated HCC development, 144 HBV-infected patients with HCC and 189 well-matched HBV infectors with chronic hepatitis or cirrhosis as non-HCC controls were enrolled in this study.

KIR

chronic hepatitis


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

breast cancer

breast cancer


Input: Over the past few years, apolipoprotein E (ApoE) receptors, also known as LDL receptor-related proteins, have distinguished themselves as functionally diverse signaling receptors with pivotal roles not only in the vascular system but also in the nervous system and during development.

apolipoprotein E

nervous system


Input: Thus, the present study provided no evidence for statistically significant associations between the 5-HT2A polymorphisms and the personality traits.

personality traits


Input: The dose-dependent effects observed with elevated HMGB1 included decreased LVDP, decreased left ventricular (LV) + dP/dt (max), decreased absolute value of LV-dP/dt (min), and increased LV end-diastolic pressure.

diastolic pressure


Input: Two unrelated girls had early onset of nystagmus and epilepsy, absent psychomotor development, and almost complete absence of myelin on cerebral MRI.

MRI

epilepsy