Input: These results confirm that the increased formation of deoxysphingoid bases is a key feature for HSAN-I as it is associated with all pathogenic SPTLC1 and SPTLC2 mutations reported so far, but also warrant for caution in the interpretation of in vitro data.

HSAN-I

HSAN-I


Input: Monocytes of type 1 diabetic patients displayed an increased adhesion to fibronectin in comparison with type 2 patients and healthy control subjects but had a normal expression of the FN binding integrins CD29, CD49a, CD49d, and CD49e (although CD11b and CD18 expression was increased).

adhesion


Input: Investigations of Kv10. 1 in brain metastasis and glioblastoma multiforme (GBM) are lacking.

Kv10. 1

brain metastasis


Input: Methods In this context, a search was undertaken for mutations in LMNA, encoding Lamins A/C, and ZMPSTE24, LBR, LMNB1, LMNB2, MAN1, SYNE1a and LAP2, encoding Lamins A/C molecular partners, in a Caucasian woman affected with Reynolds syndrome, a particular nosologic entity specifically associating limited cutaneous SSc and primary biliary cirrhosis.

primary biliary cirrhosis


Input: Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca + + binding in COMP structure and function.

COMP

PSACH

COMP

PSACH


Input: Our data showed that hypoxia regulated the expression of miR-182 and RASA1 to promote HCC angiogenesis.

hypoxia


Input: Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

nephropathy

nephropathy


Input: To gain insight into the function of the MLC protein and to elucidate the pathophysiology of these severe neurodegenerative disorders, information on the cellular and regional distribution of the murine Mlc1, as well as the developmental pattern of Mlc1 expression in brain, is required.

MLC

neurodegenerative disorders


Input: Hb Oegstgeest [alpha104 (G11) Cys--> Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.

alpha-thalassemia


Input: These data suggest a potential role for DAO in susceptibility to depressive symptoms in schizophrenia, but a more general role for DAO in affective disorders cannot be excluded.

DAO

affective disorders


Input: Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.

Corneal endothelial dystrophy 2

Corneal endothelial dystrophy 2


Input: Tumors were generated using the radioresistant U87-vIII glioma cell line and GBM9 neurospheres in nude mice.

glioma


Input: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

neonatal onset


Input: The expression of all other cytokines (LIF, IL-11, CNTF) and receptors (IL-6-R, LIF-R, IL-11-R, OSM-R, CNTF-R) was found in different patterns in the adenoma subtypes and normal pituitaries.

adenoma


Input: MDR1 RNA levels did not change following glucose starvation or treatment with 2-deoxyglucose and the calcium ionophore A23187, conditions which are known to activate the expression of another family of stress proteins, the glucose-regulated proteins.

starvation


Input: Germ-line mutations of MMR genes in the patients with hereditary nonpolyposis colorectal cancer lead to inactivation of MMR protein functions, and the defects of MMR are well correlated to the high rate of microsatellite instability in their tumors.

MMR

microsatellite instability


Input: In LN215 astrocytoma cells, IGF-1 induced the activation of hypoxia-inducible factor-1, leading to increases in EPO mRNA levels and the secretion of EPO.

EPO

astrocytoma


Input: Results have revealed that smoking and ALDH2 1-1 status were associated with current alcohol consumption (respectively: odds ratio, 23. 3; P < 0. 01 and odds ratio, 14. 5; P < 0. 05).

smoking


Input: In contrast, induction of adult kidney regeneration by ischemia/reperfusion injury resulted primarily in rapid elevation of BMI-1, whereas EZH2 was silenced.

ischemia


Input: Proliferative (PE), early secretory (ESE), and mid-secretory (MSE) endometrial tissues were obtained from 63 participants with endometriosis (19 mild and 44 severe).

MSE

mild


Input: Choline supplementation reversed the cold-induced hypothermia in HF-fed Pemt (-/-) mice with no effect on blood pressure.

Pemt

blood pressure


Input: The hypotheses of (1) gene x environment interaction in the susceptibility to experiment with drugs and (2) hypothalamus-pituitary-adrenal (HPA) axis involvement in mediating the effects of early adverse experiences and gene variants affecting serotonin function on substance abuse vulnerability were tested by investigating in 187 healthy adolescents the possible relevance of 5-HTT " S " polymorphism, childhood parental neglect reported retrospectively and HPA axis function to the susceptibility to experiment with illicit drugs.

HPA

substance abuse


Input: CHRNA4 mutations have been found in sporadic NFLE, but no mutation in CHRNB2 or CHRNA2 have been reported.

sporadic


Input: Conversely, mRNA for the non-receptor kinase PTK6/BRK was not detected in normal melanocytes or primary melanoma lines, but was found in 9% of metastatic melanoma cell lines.

BRK

metastatic melanoma


Input: Transcriptomic analyses were performed in the media and adventitia layers from three types of samples: AAA with-out FDG uptake (A0) and with FDG uptake (A +), both at the positive spot (A + (Pos)) and at a paired distant negative site (A + (Neg)) of the same aneurysm.

FDG

aneurysm


Input: We studied the F12 C46T polymorphism in 281 patients who had suffered from an acute myocardial infarction (MI) before 45-year-old and 550 control subjects from the same area.

myocardial infarction


Input: The antinociception caused by the mixture of compounds seems to involve mechanisms independent of opioid, alpha-adrenergic, serotoninergic, and nitrergic system mediation, since it was not affected by naloxone, prazosin, yohimbine, DL-p-chlorophenylalanine methyl ester, or L-arginine. Interestingly, the i. p. administration of alpha, beta-amyrin reduced the mechanical hyperalgesia produced by i. pl. injection of carrageenan, capsaicin, bradykinin, substance P, prostaglandin E2, 8-Br-cAMP, and TPA in rats.

bradykinin

mechanical hyperalgesia

bradykinin

mechanical hyperalgesia


Input: In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing' s sarcoma/Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases.

FISH

leukaemia


Input: Reduction of serum PEDF concentration associated with the development of chronic liver diseases may contribute to the progression of HCC.

HCC

liver diseases


Input: Furthermore, MUC1 knockdown induced significant reduction of invasive and migration properties of renal cancer cells under hypoxia.

hypoxia


Input: Using FISH, low-level mosaicism could be identified in some cases of primary amenorrhea and suspected Klinefelter syndrome.

FISH

primary amenorrhea


Input: We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism.

abnormalities


Input: Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder.

bipolar disorder

bipolar disorder


Input: EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

Wolcott-Rallison syndrome

Wolcott-Rallison syndrome


Input: Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p. W590R).

IRIDA

IRIDA


Input: We evaluated the impact of uteroplacental insufficiency (UPI), and subsequent intrauterine growth restriction (IUGR), on serum testosterone and hippocampal expression of Cyp19a1 variants and aromatase in rats.

intrauterine growth restriction


Input: Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8).

neurofibrosarcoma


Input: Our findings suggest some roles of TEL in expanding erythroid precursors and accumulating hemoglobin.

TEL

hemoglobin


Input: We examined these variants located in or near the JAZF1 (rs864745), THADA (rs7578597), TSPAN8 (rs7961581), ADAMTS9 (rs4607103), NOTCH2 (rs10923931) and the CDC123/CAMK1D (rs12779790) genes for associations with measures of pancreatic beta-cell function and insulin sensitivity.

insulin sensitivity


Input: Cytogenetic characterization of this tumor, by conventional G-banding and multicolor spectral karyotyping, revealed multiple clonal chromosomal aberrations, including del (X) (p11. 4) and add (21) (p11. 2).

chromosomal aberrations


Input: Here, we report that SHP (-/-) mice exhibited hypoinsulinemia with age, which was associated with increased peripheral insulin sensitivity and increased response of isolated islets to glucose stimulation, yet maintain normal levels of blood glucose.

SHP

insulin sensitivity


Input: In Zucker rats, used here as a model of liver steatosis, Svct1-2 mRNA levels were similar in obese and lean animals, except for lung tissue, where Svct2 was up-regulated.

liver steatosis


Input: Furthermore, evidence to suggest that PCAF is involved in the regulation of cellular energy production pathways in hypoxia-mimicking conditions is presented.

PCAF

hypoxia


Input: The present study was conducted to examine a large series of 36 VHL-related pheochromocytomas for somatic VHL and RET gene alterations and loss of heterozygosity (LOH) of markers on chromosome arms 1p, 3p, and 22q.

RET gene

arms


Input: Our data, for the first time, reports dysregulation of GR, MR, FKBP5, and PTGES3 in ASD and suggest a possible role of inflammation in altered GR function in ASD.

inflammation


Input: Here, we show that deregulated MALT1 expression may occur in B-cell non-Hodgkin lymphoma (B-NHL) of various histologic subtypes either through translocation to the immunoglobulin heavy chain (IGH) locus or by genomic amplification.

translocation


Input: A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay.

SMC

developmental delay


Input: bcl-2 is a marker for the translocation t (14; 18) (q32; q21), which occurs in most follicular-derived B-cell lymphomas.

translocation


Input: Eight patients with indolent disease had a BCL2/IgH translocation detectable by PCR.

translocation


Input: Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease.

HSD10 disease

HSD10 disease


Input: Apoptosis inhibitor 2-MALT lymphoma-associated translocation 1 (API12-MALT1) fusion, resulting from t (11; 18) (q21; q21), is specific to, and is the most common in, MALT lymphomas, and its clinicopathological significance has been studied extensively.

translocation


Input: Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Carbohydrate-deficient glycoprotein syndrome type 1A

Carbohydrate-deficient glycoprotein syndrome type 1A


Input: Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).

APIP

microsatellite instability


Input: Collectively, these data indicate that blockade of Ser16-Hsp20 phosphorylation attenuates the cardioprotective effects of Hsp20 against ischemia/reperfusion injury, which may be attributable to suppressed autophagy and increased cell death.

ischemia


Input: TNF alpha and LT alpha gene polymorphisms as additional markers of celiac disease susceptibility in a DQ2-positive population.

alpha gene

celiac disease


Input: Bradykinin (BK) (1 x 10 (-10)-1 x 10 (-8) M/l), in contrast, protected against reperfusion arrhythmias, which corresponded to an increase in energy-rich phosphates and glycogen stores and a decrease in lactate levels in myocardial tissue.

Bradykinin

arrhythmias

Bradykinin

arrhythmias


Input: However, decreased miR‑145 expression promoted U87 glioma cell proliferation, invasion and angiogenesis, and reduced-expression of miR‑145 increased ADAM17 and EGFR expression in U87 cells.

glioma


Input: More importantly, high expression of phospho-E47 was associated with an aggressive phenotype of colon cancer and nuclear phospho-E47 staining was found in certain cases of colon cancer with metastasis.

colon cancer


Input: A specific heterogeneous enzyme-linked immunosorbent assay (ELISA) has been established in order to determine levels of low-molecular-weight epidermal growth factor (EGF) in the urine of patients with renal cell carcinoma who had undergone unilateral radical nephrectomy.

EGF

weight


Input: TAAR 6 and HSP-70 variations associated with bipolar disorder.

bipolar disorder

bipolar disorder


Input: To our knowledge, this study is the first to investigate SOX2' s function in tumorigenesis and apoptosis of human prostate cancer and to elucidate its regulatory effect on the activity of store-operated Ca (2 +) channels.

SOX2' s

tumorigenesis


Input: Sequence homology searches revealed sequence identities to the human necrosis factor alpha (TNF-alpha) and IL-1 regulated gene TSG-6, fibronectin, osteopontin, calnexin, and the DNA repair enzyme ERCC5.

DNA repair enzyme

necrosis


Input: We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.

MMR

neurofibromas


Input: Mutations in CGI-58 are shown to be responsible for a rare genetic disorder known as Chanarin-Dorfman syndrome, characterized by an excessive accumulation of triacylglycerol in several tissues and ichthyosis.

Chanarin-Dorfman syndrome

Chanarin-Dorfman syndrome


Input: Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis.

psychosis

psychosis


Input: LC3 expression in poorly differentiated CRC is higher than that in well-differentiated CRC, and the expression of mTOR, Raptor, Rictor, and LC3 in lymph node metastasis is higher than that obtained in the absence of lymph node metastasis.

lymph node metastasis


Input: Among 14 patients with MAS observed in three centers, 5 had typical cryptogenic myoclonic absence epilepsy (MAE), 2 had MAS associated with other seizure types (1 with signs of a neuronal migration abnormality and 1 with signs of a metabolic disorder), and 7 had MAS, with or without other seizure types, complicating a chromosome abnormality syndrome-2 with trisomy 12p, 4 with Angelman syndrome, and 1 with inv dup (15).

neuronal migration

chromosome abnormality


Input: The expression of MIF and interleukin 8 (IL-8) was evaluated in 36 high-grade gliomas (20 glioblastoma multiforme, 13 anaplastic astrocytoma, and 3 anaplastic oligoastrocytoma) and 32 low-grade gliomas (18 fibrillary astrocytoma, 5 pilocytic astrocytoma, 5 oligodendroglioma, 3 ependymoma and 1 pleomorphic xanthoastrocytoma) by immunostaining.

pilocytic astrocytoma


Input: Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.

proton pump

bone mineral density


Input: These results indicate that the increased detection and visualization of peptide-HLA complexes in HAM/TSP CD4 + CD25 + T cell subsets that are shown to stimulate and expand HTLV-I Tax-specific CD8 + T cells may play an important role in the pathogenesis of HTLV-I-associated neurological disease.

neurological disease


Input: Fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated hemoglobin (HbAlc), fasting serum insulin (FINS), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), serum triglyceride, total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-c) and high-density lipoprotein-cholesterol (HDL-c) were determined before and after repaglinide treatment.

PINS

insulin resistance


Input: Myeloid-specific beta3-integrin deletion was sufficient to perturb bone mass and enhance tumor growth due to reduced macrophage infiltration in the tumors.

bone mass


Input: To determine the role of KLF2 in streptozotocin-induced diabetic nephropathy, we used endothelial cell-specific Klf2 heterozygous knockout mice and found that diabetic knockout mice developed more kidney/glomerular hypertrophy and proteinuria than diabetic wild-type mice.

proteinuria


Input: Women with the variant SP-B polymorphism also had significantly increased odds of having a direct pulmonary injury such as aspiration or pneumonia as a risk factor for ARDS as opposed to an indirect pulmonary risk for ARDS (OR, 4. 6; 95% CI, 1. 1 to 19. 9; p = 0. 04).

SP-B

aspiration


Input: To identify molecular markers of tumor hypoxia and potential therapeutic targets in glioblastoma (GBM), we investigated the hypoxia-related expression of osteopontin (OPN), carbonic anhydrase 9 (CA9), erythropoietin (EPO), vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1alpha (HIF-1alpha) in vitro in human GBM cell lines and in vivo in human tumor samples of GBM, compared to low-grade astrocytoma (LGA).

VEGF

hypoxia


Input: Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

NOG

proximal symphalangism

NOG

proximal symphalangism


Input: The bcl-2 oncoprotein, which is involved in the t (14, 18) translocation, protects cells against apoptosis.

translocation


Input: Guggulsterone reduced the viability of esophageal cancer cells in a time-dependent and dose-dependent manner, whereas this effect was diminished after knockdown of FXR expression.

FXR

esophageal cancer


Input: Sirt1 was induced to a greater extent in rats with severe ARF.

ARF

ARF


Input: Vascular endothelial cell growth factor A (VEGF-A) and hypoxia play important roles in tumor angiogenesis.

endothelial cell growth factor

tumor angiogenesis


Input: Critically, we show that the predicted peptide product resulting from the Scottish translocation removes the interaction domain for Nudel.

Nudel

translocation


Input: The array data indicated that the initial processes that occur after SAH involve activation of genes involved in angiogenesis, inflammation, and extracellular matrix (ECM) remodeling.

SAH

inflammation


Input: We used qRT-PCR and immunoblotting to examine the molecular interplay between MT1-MMP and COX-2 gene and protein expression in parental, CD133 (+), and neurospheres U87 glioma cell cultures.

glioma


Input: The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).

PARP

weight


Input: Increases in ceruloplasmin may result in increased levels of copper, which ultimately proves deleterious in schizophrenia.

ceruloplasmin

schizophrenia

ceruloplasmin

schizophrenia


Input: Intestinal water content, myeloperoxidase activity, and TNF-α, IL-6, intercellular adhesion molecule 1, cytokine-induced neutrophil chemoattractant (CINC) 1, and CINC-3 levels and edema of the lung were measured.

intercellular adhesion molecule 1

edema


Input: Nucleotide excision repair (NER) genes encode enzymes that remove adducts and may be independently associated with HNC, as well as modifiers of the association between smoking and HNC.

NER

smoking


Input: Liver fat accumulation and the I148M variant of PNPLA3 are associated with serum Fetuin-A levels independently of insulin resistance.

insulin resistance


Input: The deficit in bladder contraction was also found in mice lacking only the beta4 subunit, although they did not develop megacystis.

megacystis


Input: Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

Lowe syndrome

Lowe syndrome


Input: While the patient suffered from rapid deterioration of her general condition, in particular from progressive dyspnea due to lung metastases, we implemented screening for RET-and ROS1 translocations into our molecular diagnostic program based on recent reports of these new molecular subgroups in lung adenocarcinoma.

dyspnea


Input: In the Finnish NAP Cohort, having a mother with schizophrenia was associated with APA (Odds Ratio [OR] for linear trend = 1. 20, 95% confidence interval 1. 12-1. 29, p < 0. 01).

APA

schizophrenia


Input: Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP).

CLP

anosmia


Input: Sorafenib inhibits endogenous and IL-6/S1P induced JAK2-STAT3 signaling in human neuroblastoma, associated with growth suppression and apoptosis.

neuroblastoma


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

translocation


Input: Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

GLIALCAM

epilepsy


Input: Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.

Moyamoya disease

Moyamoya disease


Input: Overall, our data reveal that GDF1 in the heart is a novel mediator that protects against the development of post-infarction cardiac remodelling via negative regulation of the MEK-ERK1/2 and Smad signalling pathways.

infarction


Input: The p53 inhibitor MDM2 facilitates Sonic Hedgehog-mediated tumorigenesis and influences cerebellar foliation.

Sonic Hedgehog

tumorigenesis


Input: The present study is the first to report mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate.

secondary


Input: Kynurenine Signaling Increases DNA Polymerase Kappa Expression and Promotes Genomic Instability in Glioblastoma Cells.

DNA Polymerase Kappa

Glioblastoma

DNA Polymerase Kappa

Glioblastoma


Input: The current study was designed to assess the involvement of NEP in ischemia-induced acute renal failure (ARF).

NEP

acute renal failure


Input: A strong cytoplasmic MIF positivity was found in most samples, although it was more heterogeneous in malignant tumours; MIF nuclear expression characterized Spitz/blue nevi, atypical nevi, melanomas and metastases.

MIF

blue nevi


Input: EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.

major depression

major depression


Input: Taken together, we suggest that NTHI-induced SLF-derived MCP-1/CCL2 is a key molecule contributing to inner ear inflammation through CCR2-mediated recruitment of monocytes.

SLF

ear inflammation


Input: Vascular permeability factor/vascular endothelial growth factor (VPF/VEGF) has been shown to be up-regulated in the vicinity of necrotic tumor areas, and hypoxia potently induces VPF/VEGF expression in several tumor cell lines in vitro.

VEGF

hypoxia


Input: Leukemia cells with low levels of MSH2 contained partial or complete somatic deletions of one to four genes that regulate MSH2 degradation (FRAP1 (also known as MTOR), HERC1, PRKCZ and PIK3C2B); we also found these deletions in individuals with adult acute lymphoblastic leukemia (16%) and sporadic colorectal cancer (13. 5%).

sporadic


Input: The median left ventricular mass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue.

cTnT

Pompe disease

cTnT

Pompe disease


Input: Two patients with infantile hepatic dysfunction were found to have a novel mutation of the SLC25A13 gene.

SLC25A13 gene

hepatic dysfunction


Input: The clinical course of these patients suggests that NRAS mosaicism may be associated with a mild disease phenotype in JMML.

NRAS

JMML

NRAS

JMML


Input: We conducted a study in patients presenting with acute myocardial infarction (MI) to assess whether factor V Leiden increases the risk of arterial thrombosis.

factor V Leiden

arterial thrombosis


Input: To study whether interleukin-8 (IL-8) mRNA in vaginal secretions is associated with congenital infection and preterm delivery in the case of preterm labor with intact membranes.

preterm delivery


Input: The expression of c-Myc and cardiac death promoting gene Bnip3 were increased, and Pgc1-α and Ppar-α a decreased following T-H. Eleven tRNA transcripts on mtDNA were upregulated following T-H in the aged animals, compared with the sham group.

c-Myc

cardiac death


Input: The prevalence of hernias of the abdominal region in affected individuals with PPCD associated with TCF8 mutations was significantly higher than the prevalence in both individuals with PPCD not associated with a TCF8 mutation and in unaffected individuals.

hernias


Input: The present study searched for a mutation in the TNF-alpha gene by single-strand conformation polymorphism analysis (SSCP) in patients with narcolepsy.

alpha gene

narcolepsy


Input: We employed a large-insert (7-11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders.

ABCR

developmental delay


Input: We conclude that the CETP-TaqIB polymorphism has a quantitative influence, but appears to be stronger one in men, on HDL-C levels even after adjustment for important lifestyle factors (smoking, alcohol drinking, and daily physical activity).

CETP

alcohol drinking


Input: Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G > C) is a splicing defect causing the exon 9 deletion and one (1107 G > A) is located in the 3' untranslated region of UROD gene.

UROD gene

abnormalities


Input: In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.


Input: Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

familial isolated hypoparathyroidism

familial isolated hypoparathyroidism


Input: Renal Hsp72 mRNA and protein, as well as urinary Hsp72 levels, gradually increased relative to the extent of renal injury induced by different periods of ischemia quantified by histomorphometry as a benchmark of kidney damage.

ischemia


Input: The ACE genotype was associated neither with left ventricular mass nor with the prevalence of left ventricular hypertrophy.

ACE

left ventricular mass


Input: Eighteen pituitary adenoma biopsies removed in transsphenoidal surgery (six corticotrophic adenomas, four nonfunctioning adenomas, four somatotrophinomas, four prolactinomas) and six normal anterior pituitaries were examined for the expression of IL-6 receptor (-R), leukemia inhibitory factor (LIF), LIF-R, IL-11, IL-11-R, oncostatin M (OSM), OSM-R, ciliary neurotrophic factor (CNTF), CNTF-R and cardiotrophin-1 (CT-1).

pituitary adenoma


Input: Association of polymorphisms of the receptor for advanced glycation end products gene and susceptibility to sporadic abdominal aortic aneurysm.

receptor for advanced glycation end products

sporadic


Input: The prevalence of amyloid pathology increased from age 50 to 90 years from 10% (95% CI, 8%-13%) to 44% (95% CI, 37%-51%) among participants with normal cognition; from 12% (95% CI, 8%-18%) to 43% (95% CI, 32%-55%) among patients with SCI; and from 27% (95% CI, 23%-32%) to 71% (95% CI, 66%-76%) among patients with MCI.

MCI

normal cognition


Input: SCARA3 mRNA is overexpressed in ovarian carcinoma compared with breast carcinoma effusions.

ovarian carcinoma


Input: Anderson' s disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

SAR1B gene

uniparental disomy


Input: Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex.

Syndromic diarrhea

Syndromic diarrhea


Input: Forced overexpression of the miR-17-92 cluster or its members, miR-92a and miR-19a, in cultured human cholangiocarcinoma cells enhanced tumor cell proliferation, colony formation, and invasiveness, in vitro.

cholangiocarcinoma


Input: In vivo, transplantation with O-TIMP3, O-VEGF, or Y-hMSCs increased capillary density, preserved cardiac function, and reduced infarct size compared to O-hMSCs and medium control.

VEGF

infarct


Input: These findings indicate for the first time that the ECRG2 STR is a genetic susceptibility factor for ESCC and the TCA3/TCA3 allele might play a role in the development of this cancer.

STR

cancer


Input: Identification of CARS-ALK fusion in primary and metastatic lesions of an inflammatory myofibroblastic tumor.

CARS

inflammatory myofibroblastic tumor

CARS

inflammatory myofibroblastic tumor


Input: These findings point to EIF2AK4 as the major gene that is linked to PVOD development and contribute toward an understanding of the complex genetic architecture of pulmonary hypertension.

PVOD

PVOD


Input: We have directly tested the importance of the SCFskp-mediated degradation of p27 in tumorigenesis by analyzing the tumor susceptibility of mice that express a form of p27 that cannot be ubiquitinated and degraded by this pathway (p27T187A).

tumorigenesis


Input: Genetic knockdown of MMP14 in U87 and U251 glioma cells induced G2/M arrest and decreased proliferation.

glioma


Input: Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients.

LADC

LADC


Input: Overexpression of SRF in colorectal carcinoma cells enhanced cell motility and invasiveness.

SRF

colorectal carcinoma


Input: Homozygous male pseudohermaphrodites with SRD5A2 or 17 beta HSD3 gene defects were phenotypically distinguishable by the presence of mild gynecomastia in the latter.

mild


Input: Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

schizophrenia

schizophrenia


Input: In a multivariate Cox regression model, adjusted for T-category, only presence of MET Y1253D was associated with decreased distant metastasis-free survival: hazard ratio = 2. 5 (95% confidence interval: 1. 1, 5. 8).

MET

regression


Input: Co-infected patients had decreased intrahepatic mRNA levels of IFN-gamma (P = 0. 09), IL-4 (P = 0. 05) and IL-12p35 (P = 0. 04) compared with mono-infected patients, while IL-10 was increased (P = 0. 07).

IFN

mono


Input: The ALMS1 gene, which is mutated in Alström syndrome, encodes a giant 460 kDa centrosome-and basal body-associated protein.

ALMS1 gene

giant


Input: In addition, it was verified by immunohistochemical analysis that the expressions of Calgranulin A, Calgranulin B, and Cathepsin D were mainly located in cholesteatoma epithelium.

Calgranulin A

cholesteatoma


Input: Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome.

Robinow syndrome

Robinow syndrome


Input: The objective of this study was to determine differential expression of POSTN, IL-4, and IL-13 genes in the mucosa and polyps of 63 patients with CRSwNP and 23 chronic rhinosinusitis (CRS) without nasal polyps (CRSsNP) when compared with patients with nasal septum deviation (n = 18) who were used as controls.

nasal septum deviation


Input: These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype.

frataxin

FRDA

frataxin

FRDA


Input: The second SNP lies within the SLC7A9 gene, rare mutations of which have been linked to severe kidney damage.

SLC7A9 gene

kidney damage


Input: To determine the presence of microsatellite instability (MSI) and to assess the expression of the human mismatch repair (MMR) gene products hMLH1 and hMSH2 in primary transitional cell carcinomas (TCCs) of the urinary bladder in relation to clinico-pathological parameters.

MMR

microsatellite instability


Input: mRNA for Abcc8, which encodes SUR1, and SUR1 protein were abundantly upregulated in cortex adjacent to SAH, where tumor-necrosis factor-alpha (TNFalpha) and nuclear factor (NF) kappaB signaling were prominent.

SAH

necrosis


Input: There was a significant relationship between serum levels of vitamin D with ionized Ca, PTH, ALP, type of clothing, and egg consumption, while no significant relationship was found between serum levels of vitamin D with age, residency, menstruation status, skin color, sun light exposure, body mass index, waist to hip ratio, exercise, physical activity, fish consumption, and polymorphisms in exon 9 of VDR gene.

VDR gene

skin color


Input: Expression of PAX8 or PAX2 in both nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract may indicate a possible related tissue origin for these 2 lesions; both may be derived from proliferating renal tubular cells in the urinary tract.

nephrogenic adenoma


Input: The present novel finding of induced expression of mGluR8 in astrocytes APISE suggests that it may be linked to gliosis.

gliosis

gliosis


Input: No difference was present between groups of ACE polymorphism when 24-h ambulatory blood pressure measurement values, retinal vascular changes and microalbuminuria were taken into account.

ACE

microalbuminuria


Input: The elevated levels of CaMKIIbeta mRNA in the striatum suggest that this enzyme may increase D2 (High) in animals and possibly in schizophrenia itself.

CaMKIIbeta

schizophrenia

CaMKIIbeta

schizophrenia


Input: Functional analysis of the two frequently mutated ADAM genes, ADAM29 and ADAM7 demonstrated that the mutations affect adhesion of melanoma cells to specific extracellular matrix proteins and in some cases increase their migration ability.

adhesion


Input: In addition, MSC-PEDF treatment prolonged the survival of mice bearing U87 gliomas.

gliomas


Input: Prodynorphin and kappa opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders.

kappa opioid receptor

affective disorders

kappa opioid receptor

affective disorders


Input: Various inhibitors of histone deacetylase (HDAC) activity can sensitize drug resistant cancer cells to chemotherapeutic agents.

HDAC

resistant cancer


Input: The serotonin transporter-linked polymorphic region (5-HTTLPR) short allele confers a general sensitivity to environmental stimuli, and anger is suspected to have a direct influence on aggressive behavior in schizophrenia.

serotonin transporter

aggressive behavior


Input: Apomorphine challenge tests measuring GH responses on 5 time points were performed on day 1 of alcohol detoxification in 43 patients with alcohol dependence; patients were genotyped for 11 polymorphisms including DRD2, ANKK1, NCAM1 and TTC12.

GH

alcohol dependence

GH

alcohol dependence


Input: A health questionnaire based on parental observations of clinical signs of fatty acid deficiency (FAD) showed that patients with autism and Asperger' s syndrome (ASP) had significantly higher FAD scores (6. 34 +/-4. 37 and 7. 64 +/-6. 20, respectively) compared to controls (1. 78 +/-1. 68).

ASP

autism


Input: The TT virus (TTV) was discovered in patients with symptomatic posttransfusion hepatitis, but many viremic individuals are asymptomatic.

TTV

asymptomatic


Input: Our data identify a molecular mechanism in the cardiomyocyte involving the oxidative stress-derived lipid peroxidation byproduct HNE and the LKB1/AMPK signaling pathway that contributes to the development of left ventricular hypertrophy.

left ventricular hypertrophy

left ventricular hypertrophy


Input: In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.

fibromatosis


Input: Among the selected aptamers, EP166 specifically binds to cells expressing EpCAM with an equilibrium dissociation constant (Kd) in a micromolar range.

EpCAM

dissociation


Input: Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der (11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation.

RELA

translocation


Input: A slight increase of survival of mice xenografted with a wild-type EGFR-overexpressing U87 MG glioma (U87 MG. wtEGFR) was effected by mAb 806 concordant with its weak cross-reactivity with such cells.

glioma


Input: Niclosamide has the potential to target the IL6-Stat3-AR pathway to overcome enzalutamide resistance and inhibit migration and invasion in advanced prostate cancer.

prostate cancer

prostate cancer


Input: To understand the mechanisms involved in pancreatic cancer adaptation to hypoxia, we analyzed expression of a regulator of hypoxia-induced cell death, Bcl-2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3).

adenovirus


Input: Drusenlike deposits were more selectively observed in patients with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas focal regions of peripheral chorioretinal atrophy were observed only in patients with AIPL1 or RPE65 variations.

chorioretinal atrophy


Input: We explored the role of disordered pituitary cell proliferation control in the pathogenesis of these invariably benign adenomas, studying the mechanisms underlying pituitary aneuploidy, premature proliferative arrest (senescence), markers of cell proliferation and tumorigenesis in single, double or triply mutant transgenic mice with mutations of Rb, Pttg and/or p21.

Pttg

aneuploidy


Input: We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890.

TRE

adenovirus


Input: Investigating the genetic association between ERAP1 and ankylosing spondylitis.

spondylitis


Input: Convincing evidence indicates that inflammation contributes to the adverse prognosis of subarachnoid hemorrhage (SAH).

SAH

inflammation


Input: P53 patches were more prevalent in RTR than in ICP in normal skin adjacent to carcinomas (P = 0. 02), in spite of a lower mean age in the RTR (52 vs 63 years, P = 0. 001), but we found no increase in UV-induced p53 patches in mice that were immunosuppressed by azathioprine.

RTR

carcinomas


Input: High glucose and hypoxia independently induced TGF-β (1) production.

TGF-β

hypoxia


Input: Therefore, it appears that perturbation of cancer-associated endogenous fatty metabolism triggers a " hypoxia-like " (oxygen-independent) condition that actively rescues Her-2/neu-dependent MAPK--> HIP-1alpha--> VEGF cascade.

VEGF

hypoxia


Input: Sorbin and SH3-domain-containing-1 (SORBS1) is an important adaptor protein in insulin-signalling pathway, and its genetic polymorphism may regulate the activity of insulin resistance.

insulin resistance


Input: Fukuyama-type congenital muscular dystrophy (FCMD, MIM #253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations.

MIM

congenital muscular dystrophy


Input: The HLA-DRB1 * 1101, DQA1 * 0501, DQB1 * 0301 haplotype was found significantly increased in the patients vs non-atopic controls (15. 4 vs 1. 1%, PC < 0. 01).

atopic


Input: Importantly, analysis of the gene expression data also identified potential biomarkers for monitoring neurodegeneration (Cox2) and neuronal/synaptic plasticity (Kalrn).

neurodegeneration


Input: The discordance between the low serum lipoprotein levels and the presence of aortic atherosclerosis suggested that intrinsic alterations in macrophage sterol metabolism in the chimeric Npc1-/-mice played a greater role in atherosclerotic lesion formation than did serum lipoprotein levels.

atherosclerosis

atherosclerosis


Input: It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.

EDNRB

malformation


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

shock


Input: We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis.

familial tooth agenesis

familial tooth agenesis


Input: In a genomic screen for gene copy losses contributing to tumorigenesis in a mouse osteosarcoma model, we identified a somatic homozygous deletion specifically targeting Smpd3.

tumorigenesis


Input: The role of hypoxia-responsive molecules, especially hypoxia-inducible factor-1 (HIF-1), in glioma tumorigenesis is explored.

tumorigenesis


Input: The trinucleotide repeat sequences which become unstable in fragile X syndrome and myotonic dystrophy are located in the untranslated regions of their respective genes, FMR1 and DM1.

myotonic dystrophy


Input: MBD3 mediates epigenetic regulation on EPAS1 promoter in cancer.

cancer


Input: Common genetic variants at the NPPA-NPPB locus found to be associated with circulating natriuretic peptide concentrations contribute to interindividual variation in blood pressure and hypertension.

NPPB

hypertension

NPPB

hypertension


Input: The aberrant promoter methylation of BMP3b and BMP6 in malignant pleural mesotheliomas.

mesotheliomas

mesotheliomas


Input: We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC.

ACC

ACC


Input: An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p. [Gly43Asp; His63Asp] + [Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

HFE

hemochromatosis

HFE

hemochromatosis


Input: This study showed that the P. vivax α-tubulin LAMP assay, which can be used to diagnose early infections of vivax malaria, is an alternative molecular diagnostic tool and a point-of-care test that may help to prevent transmission in endemic areas.

LAMP

infections


Input: Role of Smad1 in diabetic nephropathy: Molecular mechanisms and implications as a diagnostic marker.

diabetic nephropathy


Input: In a CD40-negative model, CD40L expression did not add potency to vaccinia oncolysis.

oncolysis


Input: ' pain inhibits pain'--is impaired in chronic pain states and, reciprocally, aberrations of CPM may predict the development of chronic pain.

CPM

chronic pain


Input: Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46, XY, der (9) monosomy 9pter--> p22, trisomy 10q26--> qter karyotype.

monosomy


Input: PTTG is highly expressed in many cancers and overexpression of PTTG induces aneuploidy in vitro.

PTTG

aneuploidy


Input: EW + mate group presented lower body weight (-10%), adipose mass (retroperitoneal:-40% and epididymal:-44%), total body fat (-43%), subcutaneous fat (-46%), visceral adipocyte area (-21%), triglyceridemia (-31%) and hypothalamic NPY content (-37%) compared to EW group.

NPY

body weight


Input: Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.

ZLS

ZLS


Input: The Sonic Hedgehog-Gli pathway regulates dorsal brain growth and tumorigenesis.

Sonic Hedgehog

tumorigenesis


Input: It has been reported that NTM might play a role in late-onset Alzheimer disease while NR3C2 may be associated with cognitive function and major depression.

NTM

major depression

NTM

major depression


Input: Apart from improvement in angiogenesis and scar areas, more connexin 43-positive gap junction and greater tyrosine hydroxylase-positive cardiac sympathetic nerves sprouting were observed in the HO-1-ADSCs-treated group compared with ADSCs group.

connexin 43

scar


Input: PKD2 regulates hypoxia-induced VEGF-A expression/secretion by tumour cells and VEGF-A stimulated blood vessel formation.

VEGF-A

hypoxia


Input: MLH1 and MSH2, the most commonly altered MMR genes, protein expression was evaluated using immunohistochemistry, with microsatellite instability (MSI) and BRAF gene analyses in the absence of MLH1 protein expression.

MMR

microsatellite instability


Input: Furthermore, in vivo administration of GM-CSF at 60 microg/kg body weight daily for 5 consecutive days beginning immediately after injury decreased infarction volume, altered the expression of several apoptosis-related genes (Bcl-2, Bax, caspase 3, and p53), and improved locomotor behavior in the focal cerebral ischemia model.

body weight


Input: These data showed that high-level HE4-V3 expression is associated with a favorable prognosis in lung adenocarcinoma.

lung adenocarcinoma


Input: Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c. 421C & gt; A [p. P141T] in SLC52A2 and c. 62A & gt; G [p. N21S] in SLC52A3.

BVVLS

BVVLS


Input: RESULTS: More than 50 recurring copy-number abnormalities were identified, most commonly involving genes that encode regulators of B-cell development (in 66. 8% of patients in the original cohort); PAX5 was involved in 31. 7% and IKZF1 in 28. 6% of patients.

abnormalities


Input: Here we describe an ~ 5 & #8201; kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia.

tibial hemimelia

tibial hemimelia


Input: This result provides a direct demonstration that Tdp1 repairs Topo I covalent lesions in vivo and suggests that SCAN1 arises from the recessive neomorphic mutation H493R.


Input: Our results demonstrate altered expressions of the PDE4A and PDE4B proteins in the brains of subjects with autism and might provide new therapeutic avenues for the treatment of this debilitating disorder.

autism

autism


Input: As tHcy and FIB have been consistently associated to increased risk of ischemic heart disease (IHD) and acute myocardial infarction (MI) also genes-trait-MI mediational effects were tested.

FIB

myocardial infarction


Input: By profiling 108 colorectal samples using exon arrays, we identified nine genes (TCF12, OSBPL1A, TRAK1, ANK3, CHEK1, UGP2, LMO7, ACSL5, and SCIN) showing tumor-specific alternative TSS usage in both adenoma and cancer samples relative to normal mucosa.

tumor


Input: The effect of Semax and its C-end peptide PGP on the morphology and proliferative activity of rat brain cells during experimental ischemia: a pilot study.

PGP

ischemia


Input: This loss of Pds1p/securin and Clb2p/cyclin B1 occurred before cellular entry into mitosis, caused a G (2)/M cell cycle block, and was accompanied by severe chromosome aneuploidy in both Saccharomyces cerevisiae cells and human diploid fibroblasts.

securin

aneuploidy


Input: We previously showed that RAE1 depletion caused aneuploidy, which enhanced tumorigenesis.

aneuploidy


Input: Treatment of hepatoma cells with policosanol produced a 2. 5-fold or greater increase in the phosphorylation of AMP-kinase and HMG-CoA reductase, and increased the phosphorylation of Ca (+ +)/calmodulin-dependent kinase kinase (CaMKK), an upstream AMP-kinase kinase.

CaMKK

hepatoma


Input: The frequency and extent of CpG methylation in the MGMT promoter increased along with hepatitis viral infection and pathological progression.

MGMT

viral infection


Input: This study was designed to evaluate the association between the Glu298Asp polymorphism of the NOS3 and advanced stage endometriosis.

endometriosis


Input: Initial studies showed that the E3 ubiquitin ligase c-Cbl, a multi-domain scaffold protein, regulates bone resorption by interacting with several molecules in osteoclasts.

E3 ubiquitin ligase

bone resorption


Input: Western blotting revealed that the IQGAP1 and RhoC proteins were highly expressed in gastric cancer tissues and cells.

RhoC

gastric cancer


Input: Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13.

Turcot syndrome

Turcot syndrome


Input: Moreover, the methylation status of different CpG sites in CLOCK and PER2 could be used as biomarkers of weight-loss success, particularly CLOCK CPGs 5-6.

weight


Input: Molecular characterization of the translocation revealed a mosaic of two derivative chromosomes 1 in her peripheral blood lymphocytes, in one of which the coding region of the platelet-derived growth factor (PDGFB; chromosome 22q13. 1) gene was disrupted.

PDGFB

translocation


Input: Testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.

NALCN

growth retardation


Input: Our data suggest that the status of amphiregulin and TGF-alpha in serum can be an important predictor of the resistance to gefitinib among patients with advanced NSCLC.

amphiregulin

NSCLC

amphiregulin

NSCLC


Input: These findings provide novel insights into mechanisms by which pathophysiological stimuli such as hypoxia cause loss of PPARγ activity and pulmonary vascular cell proliferation, pulmonary vascular remodeling, and PH.

PPARγ

hypoxia


Input: In cultured human macrophages, inhibition of ORP150 expression caused retention of VEGF antigen within the endoplasmic reticulum (ER), while overexpression of ORP150 promoted the secretion of VEGF into hypoxic culture supernatants.

VEGF

hypoxic


Input: In addition, cultured malignant brain tumor cells (U87, LN18, LN229) transduced with DeltaFasL-RV were rendered apoptotic by Fas/DeltaFasL interaction.

malignant brain tumor


Input: Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.

congenital thrombotic thrombocytopenic purpura

congenital thrombotic thrombocytopenic purpura


Input: In this study, we cultured a human lung adenocarcinoma line transfected with empty pLKO. 1 vector as a control, CL1-0shControl, and its GR-knockdown derivative, CL1-0shΔGR, to evaluate differential protein level alteration and redox regulation of these two cell lines.

lung adenocarcinoma


Input: LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.

Lewis lung carcinoma

Lewis lung carcinoma


Input: rLTL of older men exhibited a statistically significant, positive partial correlation with mean corpuscular hemoglobin (MCH; p = 0. 012) and MCH concentration (p = 0. 002).

MCH

mean corpuscular hemoglobin


Input: Moreover, the approach to the diagnosis of Lynch syndrome is becoming more complex as more is learned about the disease, and one needs to understand how the DNA MMR proteins function, and what makes them malfunction, to have an optimal appreciation of how to interpret diagnostic studies such as microsatellite instability and immunohistochemistry of the DNA MMR proteins.

MMR

microsatellite instability


Input: The observation that increased duration and generalized disease was associated with increased peripheral blood mononuclear cell responses to peptides encoded by BPAG1 supports the hypothesis that responses to BPAG1 may occur as a consequence of ongoing inflammation at the basement membrane.

inflammation


Input: Interferon gamma-mediated renal MHC expression in mercuric chloride-induced glomerulonephritis.

Interferon gamma

glomerulonephritis

Interferon gamma

glomerulonephritis


Input: Reduced tumor volume and metastasis are not due to defects in tumor angiogenesis, as there is no significant difference in tumor vessel density between wild-type tumors and tumors expressing EphA2-signaling-defective mutants.

tumor angiogenesis


Input: This activates the kinase which phosphorylates the GluR1 subunit of AMPA receptors in Ser831 and induces its translocation to the post-synaptic densities.

translocation


Input: Autoimmune thyroiditis, with TPO-Abs as marker, is a possible endophenotype for bipolar disorder.

TPO

bipolar disorder

TPO

bipolar disorder


Input: Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

autosomal dominant brachyolmia

autosomal dominant brachyolmia


Input: Although subretinal (SR) AAV vector administration can transfect retinal cells efficiently, the injection-induced retinal detachment can cause retinal damage, particularly when SR vector bleb includes the fovea.

AAV

retinal damage


Input: In this study, we extensively investigated the impact of sex and smoking on the EGFR mutation.

EGFR

smoking


Input: ADAR1 expression levels and the RNA editing levels in the 3'-UTR of DHFR in breast cancer tissues were higher than those in adjacent normal tissues.

breast cancer

breast cancer


Input: Ten human cancer cell lines, showing growth characterized morphologically by loose cell-cell adhesion, were analyzed for possible structural abnormalities of their expressed E-cadherin.

E-cadherin

abnormalities


Input: To investigate the expression and prognostic value of bone sialoprotein (BSP) in glioma patients.

BSP

glioma


Input: In human glioma cell lines BT325, U251, SHG-44, and U87, mRNA encoding different types of Notch receptors were detected, but active form of Notch1 (NIC) was only detected in SHG-44 and U87 by Western blot.

glioma


Input: We found that Ndrg2 promoter was frequently hypermethylated in gastric cancer cell lines and in 292 gastric tumor tissues.

gastric tumor


Input: By multivariate analysis, four factors were identified as independent predictors of intracranial haemorrhage; age over 65 years (odds ratio 2. 2 [95% Cl 1. 4-3. 5]), body weight below 70 kg (2. 1 [1. 3-3. 2]), hypertension on hospital admission (2. 0 [1. 2-3. 2]), and administration of alteplase (1. 6 [1. 0-2. 5]).

alteplase

intracranial haemorrhage

alteplase

intracranial haemorrhage


Input: We authors believe that this is the first documented case of ACTH-producing Grawitz tumor in the literature.

ACTH

Grawitz tumor

ACTH

Grawitz tumor


Input: This study supports the hypothesis that resveratrol may be able to protect the retina against ischemia by downregulation of MMP-9 and iNOS, and upregulation of HO-1.

retina

retina


Input: Primary human cardiomyocytes with overexpression of wild type IRS-1 or Arg972 IRS-1 or knockdown of endogenous IRS-1 were exposed to normoxia and hypoxia, and the expression levels of ACE2 were determined.

hypoxia


Input: The embryonic programme' epithelial-mesenchymal transition' (EMT) is thought to promote malignant tumour progression.

EMT

tumour progression


Input: The inverse expression levels of HIF-1alpha and VEGF-A were significantly superior in predicting clinical outcome as compared with proteinuria, renal function, and degree of tubular atrophy and interstitial fibrosis at the time of biopsy.

proteinuria


Input: This study examined the apparently close correlation between AGE-RAGE and the malignancy of SAS oral cancer cell line.

SAS

oral cancer


Input: This indicates that those multiple abnormal WS phenotypes are derived from a primary, but not secondary, defect in the WRN gene.

WRN gene

secondary


Input: Our data raise the possibility that TRPV4 may also have a role in age-or injury-related osteoarthritis.

osteoarthritis

osteoarthritis


Input: Clinical delineation and localization to chromosome 9p13. 3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

frontotemporal dementia


Input: Ghsr ablation improves aging-associated obesity and insulin resistance by reducing adiposity and increasing thermogenesis.

Ghsr

insulin resistance


Input: It has recently been shown that the WNK [with-no-K (Lys)] kinases (WNK1, WNK2, WNK3 and WNK4) have vital roles in the control of salt homeostasis and blood pressure.

blood pressure


Input: BCL6-mediated expression may allow GCB-cells to sustain the low levels of physiological DNA breaks related to somatic mutation (SM) and immunoglobulin class switch recombination which physiologically occur in GCB-cells.

somatic mutation


Input: This was also mirrored in human genetic studies where polymorphisms in Tim1 and Tim3 have been associated with atopic populations.

atopic


Input: The extranucleotide, commonly appearing at the joining site of the t (14; 18) translocation involving the IgH locus, is absent from the joining site of bcl-2 and Ig lambda.

translocation


Input: Bone morphogenetic proteins induce pancreatic cancer cell invasiveness through a Smad1-dependent mechanism that involves matrix metalloproteinase-2.

pancreatic cancer


Input: Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

NOG

multiple synostosis syndrome

NOG

multiple synostosis syndrome


Input: Finally, CRH, PLAC1, and selectin-P were plotted against quantitative distributions of blood pressure and proteinuria.

CRH

proteinuria


Input: In previous studies, murine myeloid leukemias induced by transducing wild-type bone marrow progenitors with a SRY sex determining region Y-box 4 (Sox4)-expressing retrovirus frequently carried proviral insertions at Sfpi1, decreasing its mRNA levels, suggesting that reduced Sfpi1 expression cooperates with Sox4 in myeloid leukemia induction.

sex determining region Y

myeloid leukemia


Input: Endoplasmic reticulum aminopeptidase 1 and interleukin-23 receptor in ankylosing spondylitis.

Endoplasmic reticulum aminopeptidase 1

spondylitis


Input: The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

neurobeachin

autism

neurobeachin

autism


Input: Many of the cases in this DLBCL/BL category contain a translocation of MYC as well as BCL2, so-called " double-hit lymphomas " which have a very aggressive clinical behavior.

translocation


Input: These results show that the normal expression of CD-RAP/MIA is limited to cartilage; however, pathologically, it is expressed both in melanoma and chondrosarcoma.

MIA

chondrosarcoma


Input: All patients diagnosed as having Norrie disease had mutations in the NDP gene.

NDP

Norrie disease

NDP

Norrie disease


Input: These findings are placed in the broader context of how p27 dysregulation might affect neuroendocrine cell function and trigger tumorigenesis.

tumorigenesis


Input: Acute respiratory failure (ARF) and severe sepsis (SS) are possible complications in patients with community-acquired pneumonia (CAP).

ARF

sepsis


Input: SLP-2 overexpression was an independent prognostic factor in multivariate analysis using the Cox regression model (p < 0. 05).

regression


Input: In addition, miR-145 inhibition also significantly decreased myofibroblast contractility, migratory capacity, and TGF-β1 secretion, which are all thought to contribute to corneal scarring.

corneal scarring


Input: Taken together, our results demonstrate that PGG inhibits hypoxia-mediated accumulation of HIF-1α as well as its downstream signaling to VEGF and PI3K/AKT/mTOR pathway in LNCaP prostate cancer cells.

VEGF

hypoxia


Input: Stable RNA interference-mediated knockdown of MALAT1 in human glioma cell lines (U87 and U251) significantly promoted the invasion and proliferation of the glioma cells by in vitro assays.

glioma


Input: Although CRP SNPs alone were not associated with endometrial cancer, the associations of endometrial cancer with central obesity, measured as the waist-to-hip ratio (WHR) and the waist circumference, seemed to be stronger in women who were homozygous for the major allele of reference SNP (rs) 1130864 (cytidine [C]/C) than in women who had the C/thymidine (T) and T/T genotypes (interaction test: P =. 013 for WHR; P =. 083 for waist circumference).

CRP

waist-to-hip ratio


Input: Additionally, IL-6 plasma levels were significantly increased in patients with chronic liver diseases and showed an inverse correlation with biochemical markers of liver function and a positive correlation with inflammatory markers, signs of portal hypertension, and the degree of liver fibrosis.

liver fibrosis

liver fibrosis


Input: The present study aimed to examine the anti-metastatic properties of Selaginella tamariscina extract (STE) in human nasopharyngeal carcinoma HONE-1 cells in vitro.

STE

nasopharyngeal carcinoma


Input: Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council' s repository of multicase rheumatoid arthritis families were typed for a dinucleotide repeat in the NRAMP1 promoter region and four other 2q34 (TNP1) or 2q35 (IL8R, VIL1, DES) marker genes.

autoimmune disease


Input: The t (16; 21) (p11; q22) translocation is a nonrandom chromosomal abnormality found in several types of myeloid leukemia, which show variable cytomorphological features.

chromosomal abnormality


Input: Angiopoietin-1 therapy enhances fibrosis and inflammation following folic acid-induced acute renal injury.

inflammation

inflammation


Input: concentration, polymorphisms of genes encoding for the vitamin D receptor (VDR) and vitamin D-binding protein (also known as gc-globulin or group-specific component, GC), and breast cancer risk, along with 2 potential modifiers: body mass index (BMI; in kg/m (2)) and alcohol intake.

VDR

alcohol intake


Input: Alms1-/-mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss.

hypogonadism


Input: Thus, we conclude that the reduction of mGluR LTD after pilocarpine-induced status epilepticus is the result of the subtype-specific downregulation of mGluR5 and associated downstream signaling components.

status epilepticus

status epilepticus


Input: The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (DHPR) voltage sensor.

DHPR

familial hypokalemic periodic paralysis


Input: We have previously described the development of a soluble membrane-independent form of CD59 (sCD59) that when delivered via a gene therapy approach using an adeno-associated virus vector (AAV2/8-sCD59) to the eyes of mice, can block MAC deposition and choroidal neovascularization.

choroidal neovascularization


Input: We used a diet-induced rat model of nonalcoholic fatty liver disease (NAFLD) and hepatic insulin resistance to explore the impact of suppressing Acc1, Acc2, or both Acc1 and Acc2 on hepatic lipid levels and insulin sensitivity.

insulin sensitivity


Input: Presence of high hepcidin suggested a diagnosis of IRIDA, which was eventually confirmed by identification of a novel homozygous mutation, p. Pro354Leu, in the TMPRSS6 gene.

IRIDA

IRIDA


Input: Furthermore, no NKX2. 5 mutation was identified in 125 sporadic Chinese CHD patients.

NKX2. 5

sporadic


Input: In the unilateral ureteral obstruction model, we observed higher PGC-1 & #945; protein expression and IHG-1 levels with fibrosis.

fibrosis

fibrosis


Input: Treatment with the anticancer drug taxol (TXL), which polymerizes the cytoskeleton protein tubulin, may evoke cardiac arrhythmias based on reduced human cardiac sodium channel (Na (v) 1. 5) function.

TXL

cardiac arrhythmias


Input: These patients showed stronger and earlier remission of hematuria and proteinuria than those with low TLR9 expression.

proteinuria


Input: Surgical specimens and tumor cells in primary culture of salivary pleomorphic adenomas were used for immunohistochemistry for CD31, vascular endothelial growth factor (VEGF) and its receptors Flk-1 and Flt-1, as well as for hypoxia markers, such as hypoxia-inducible factor-1alpha (HIF-1alpha) and lactate dehydrogenase-1 (LDH).

VEGF

hypoxia


Input: We conclude that smoking and inherited ALDH2 1-1 are the most important determinants of alcohol consumption.

smoking


Input: Thus, we tested the hypothesis that decreased activation of the pulmonary AhR augments hyperoxia-induced alveolar simplification and lung inflammation in newborn mice.

AhR

lung inflammation

AhR

lung inflammation


Input: However, because performing accurate cytogenetic studies in solid hematolymphoid neoplasms is difficult, knowledge of the prevalence of the t (14; 18) translocation and, by association, the extent of bcl-2 involvement in human lymphomas is limited.

translocation


Input: In conclusion, results presented here show that cannabinoids lead to apoptosis of pancreatic tumor cells via a CB (2) receptor and de novo synthesized ceramide-dependent up-regulation of p8 and the endoplasmic reticulum stress-related genes ATF-4 and TRB3.

CB (2

pancreatic tumor

CB (2

pancreatic tumor


Input: WWOX, a gene that spans the second most common chromosomal fragile site (FRA16D), often exhibits homozygous deletions and translocation breakpoints under multiple cellular stresses induced by extrinsic or intrinsic factors, such as hypoxia, UV, and DNA damage regents.

WWOX

translocation


Input: Significant risk estimates of the CARD15 genotype were obtained for stricturing vs inflammatory behaviour, OR 2. 76 (1. 2-6. 3), and for penetrating behaviour, 2. 59 (1. 0-6. 6), and marginally significant for ileal vs colic location, OR 3. 0 (0. 9-9. 8).

colic


Input: We report that the injection of adeno-associated vector (AAV) encoding CYP46A1 in the cortex and hippocampus of APP23 mice before the onset of amyloid deposits markedly reduces Abeta peptides, amyloid deposits and trimeric oligomers at 12 months of age.

AAV

amyloid deposits


Input: We examined whether a functional variant of the ADRA1A gene (Cys to Arg at codon 347 in exon 2, Cys347Arg) may enhance treatment response through decreased stimulation of this & #945; 1A-adrenoceptor, since antagonists of this receptor show promise in reducing cocaine use.

cocaine use

cocaine use


Input: We recently reported that the pathogenesis of pemphigus vulgaris (PV), an autoimmune blistering skin disorder, is driven by the accumulation of c-Myc secondary to abrogation of plakoglobin (PG)-mediated transcriptional c-Myc suppression.

plakoglobin

pemphigus vulgaris


Input: A small interference RNA (siRNA) targeting EPO or control negative siRNA was injected intravitreally at postnatal (P) day 12, P14, and P15 during the hypoxic phase, and the effect on neovascularization was evaluated in retinal flatmounts at P17.

neovascularization


Input: LIFR silencing and Mcl-1 blockade restored drug-induced apoptosis. In conclusion, autocrine and paracrine LIF signaling promote chemoresistance in cholangiocarcinoma by up-regulating Mcl-1 via a novel STAT3-and MAPK-independent, PI3K/AKT-dependent pathway.

LIFR

cholangiocarcinoma


Input: In addition, although these tumors are recommended for either immunohistochemistry for DNA mismatch repair (MMR) proteins or a microsatellite instability test in the Bethesda guidelines as Lynch syndrome-associated cancers, few studies have completed these analyses.

MMR

microsatellite instability


Input: A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Understanding the relationship between hPNPase (old-35) and inflammation and aging provides a unique opportunity to mechanistically comprehend and potentially intervene in these physiologically important processes.

inflammation


Input: Ercc6l expression in 15. 5-day embryonic brain and heart, which are the most commonly affected organs of FAS, were both decreased by alcohol exposure.

FAS

FAS


Input: Involvement of peroxisome proliferator-activated receptor gamma in vitamin D-mediated protection against acute kidney injury in rats.

peroxisome proliferator-activated receptor gamma

acute kidney injury

peroxisome proliferator-activated receptor gamma

acute kidney injury


Input: We examined p16, p21 and p53 expression in combination with the presence of human papillomavirus (HPV) DNA as molecular markers to predict survival in patients with stage IV hypopharyngeal squamous cell carcinoma (HSCC).

hypopharyngeal squamous cell carcinoma


Input: The 1. 87 (p = 0. 021) increased relative risk for microalbuminuria was found in patients with DR3/DR3 alleles and the same duration of diabetes.

microalbuminuria


Input: UCP3 genotype and allele distribution was significantly associated with ethnicity and waist-to-hip ratio (WHR), but among non-obese and Chinese participants only, respectively, after stratified analysis.

waist-to-hip ratio


Input: In total, we identified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa.

retinitis pigmentosa

retinitis pigmentosa


Input: In tongue cancer, downregulation of C-myc mRNA associated with advancement of the disease and worse prognosis.

C-myc

tongue cancer


Input: Many of the atrophic epithelial luminal cells in PIA are candidates for intermediate cells based in part on weak expression of PSA and androgen receptor, high levels of K8/18, and lack of p63.

PSA

atrophic


Input: Overexpression of NDRG1 was shown to inhibit cell proliferation and invasion, and induce apoptosis in the U87 MG glioma cells, whereas NDRG1 downregulation increased proliferation, suppressed apoptosis and promoted invasion of the SHG‑44 glioma cells.

glioma


Input: We conducted a multicenter study of families with mood disorders, to investigate a possible linkage with genes coding for dopamine receptor D2, dopamine receptor D3 and tyrosine hydroxylase (TH).

dopamine receptor D3

mood disorders

dopamine receptor D3

mood disorders


Input: Active Id2 prevents differentiation and promotes cell-cycle progression and tumorigenesis in the nervous system.

nervous system


Input: These results are consistent with basic science data, suggesting that COL6A3 might contribute to adipose tissue inflammation.

inflammation


Input: The most frequent translocation t (8; 21) in acute myeloid leukemia (AML) generates the chimeric AML1/ETO protein, which blocks differentiation and induces self-renewal in hematopoietic progenitor cells.

translocation


Input: We conclude that IL-20 was responsive to hypoxia in vitro and in the ischemic stroke model and that up-regulation of IL-20 in the ischemic brain may contribute to brain injury.

hypoxia


Input: The purpose of the present study was to investigate the association of HLA class II DRB1/DQB1 alleles with narcolepsy-cataplexy in Mexican Mestizo patients.

narcolepsy-cataplexy

narcolepsy-cataplexy


Input: The current study addresses the hypothesis that pharmacological inhibition of PARP promotes atherosclerotic plaque regression.

PARP

regression


Input: Among cases, FLG mutations increased mortality due to cervical cancer (HR 4. 55, 95% CI 1. 70-12. 2), however, the association was reduced after stratification by cancer stage (HR 2. 53, 95% CI 0. 84-7. 59).

FLG

cervical cancer


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

obese

obese


Input: Finally, an anti-E-selectin antibody protected rats against SAO shock.

E-selectin

shock


Input: However, a significant association of GSTP1 I105V genotype with severe malarial anemia was discovered (26. 0% against 10. 3% mild malaria, P = 0. 004).

mild


Input: Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

snowflake vitreoretinal degeneration

snowflake vitreoretinal degeneration


Input: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

familial idiopathic basal ganglia calcification

familial idiopathic basal ganglia calcification


Input: SDF1/CXCL12 and RANKL expression was mainly localized to the alveolar crest, including inflammatory leukocytes, vascular endothelium, osteoblasts and osteoclasts.

RANKL

crest


Input: Rare EGFR mutations were significantly associated with smoking (vs. classic EGFR mutations; p = 0. 0062).

EGFR

smoking


Input: INTRODUCTION: Liver kinase 1 (LKB1) plays a critical barrier role in lung tumorigenesis by controlling initiation, differentiation and metastasis.

tumorigenesis


Input: Approximately 5% of transgenic mice overexpressing S100A4/Mts1 develop pulmonary arterial changes resembling human plexogenic arteriopathy with intimal hyperplasia leading to occlusion of the arterial lumen.

intimal hyperplasia


Input: In conclusion, the results of this case-control study for sporadic cases of CRC show that GSTM1 deletion polymorphisms can have predictive value for susceptibility to CRC (OR = 2. 01, p = 0. 0001) for the mixed population from Kazakhstan and for both main ethnic groups (Kazakhs and Russians (OR = 2. 36 and OR = 1. 84, respectively)).

sporadic


Input: In summary, this is the first report demonstrating a pivotal role of MUC1 in controlling the hypoxia-driven angiogenesis through the regulation of multiple proangiogenic factors in pancreatic cancer.

hypoxia


Input: In a Polish population consisting of 506 familial/early onset BC cases, no association with event-free survival for the ALCAM SNPs nor any association with tumor characteristics for the CCL18 SNP were observed, suggesting either a chance finding in the Swedish population or population-based or etiological differences between sporadic and familial/early onset BC.

sporadic


Input: We demonstrated that overexpression or knockdown of PDCD5 had no significant effect on the proliferation of glioma cell lines (U87, U251, and T98G) in the absence of chemotherapeutic agents.

glioma


Input: Decreased expression of small-conductance Ca2 +-activated K + channels SK1 and SK2 in human chronic atrial fibrillation.

chronic atrial fibrillation


Input: We investigated the possible relationship between VHL mutations in sporadic CCRCC and polymorphism of genes encoding enzymes involved in carcinogen metabolism: two cytochrome P450 monooxygenases (CYP1A1 and CYP2D6), one NAD [P] H: quinone oxidoreductase (NQO1), three glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and two arylamine N-acetyltransferases (NAT1 and NAT2).

sporadic


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

CREBBP

ADC

CREBBP

ADC


Input: C-Fos expression as a molecular marker in corticotropin-releasing factor-induced seizures.

C-Fos

seizures

C-Fos

seizures


Input: Glucocorticoid had potential of augmenting cardiac hypertrophy via glucocorticoid receptor even under the activation of alpha-adrenoceptor-mediated hypertrophic signaling.

glucocorticoid receptor

cardiac hypertrophy


Input: In limb ischemic mice, the local administration of pVHAVI promoted gastrocnemius mass and force recovery and ameliorated limb necrosis much better than the group treated with hypoxia-insensitive vector, even this last group had produced more VEGF in muscle.

VEGF

necrosis


Input: To evaluate the prognostic value of folate receptor alpha (FOLR1) and/or reduced folate carrier (RFC1) expression, which are well-characterized folate transporters, in completely resected non-small-cell lung cancer (NSCLC).

lung cancer


Input: The adenovirus E4-ORF1 gene encodes an oncoprotein that promotes viral replication, cell survival, and transformation by activating phosphatidylinositol 3-kinase (PI3K).

adenovirus


Input: Conversely, increasing kidney IDO1 activity or treating mice with a GCN2 agonist induced autophagy and protected mice from nephritic kidney damage.

kidney damage


Input: These associations, together with the recently unraveled nervous system-related functions, suggest that the relevance of TTR in physiology, particularly in neurobiology, is undervalued and that additional research in this field is needed.

TTR

nervous system


Input: In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.

depression

depression


Input: Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.

PROP1 gene

pituitary hormone deficiency


Input: Estradiol treatment reduced weight gain and increased atrial ANP synthesis as well as decreased ANP clearance NPR-C receptors, resulting in elevation of circulating ANP level.

ANP

weight gain


Input: p63 expression in salivary gland tumors: role of DeltaNp73L in neoplastic transformation.

neoplastic transformation


Input: Acidic mammalian chitinase in asthmatic Th2 inflammation and IL-13 pathway activation.

Acidic mammalian chitinase

inflammation


Input: We found that the vascular adhesion molecule E-selectin preferentially promoted the shear-resistant adhesion and transendothelial migration of the estrogen receptor (ER) (-)/CD44 (+) hormone-independent breast cancer cells, but not of the ER (+)/CD44 (-/low) hormone-dependent breast cancer cells.

estrogen receptor

adhesion


Input: To examine choroidal melanomas for genomic instability, manifested by microsatellite instability (MSI) and mismatch repair (MMR) protein alterations, and to determine the association of these alterations with selected clinicopathological features of the tumors.

MMR

microsatellite instability


Input: In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) account for most familial and late-onset sporadic cases, whereas mutations in fused in sarcoma (FUS) can be identified in just around 5% of familial and 1% of overall sporadic cases.

FUS

sporadic


Input: Caco2 cells stably expressing a hypoxic response element (HRE)-driven luciferase promoter confirmed that ADM activates the HIF signaling pathway.

ADM

hypoxic


Input: As a result, aberrant methylation of BCL2L10 was detected in 38% of gastric cancer and in 24% of corresponding non-neoplastic mucosae and correlated with low expression of BCL2L10.

non-neoplastic


Input: SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4. 2 x 10 (-6), 2. 2 x 10 (-5) and 2. 4 x 10 (-4), respectively).

asthma

asthma


Input: In addition, heterozygous mutations or gene deletions in the growth hormone-insulin-like growth factor (GH-IGF) axis such as the GH, GH-releasing hormone receptor, GH receptor, STAT5b, IGF-I, IGF-I receptor and the acid labile subunit have also been observed in children with growth failure and short stature.

hormone receptor

short stature


Input: Here we report an additional five breakpoint junction sequences from t-AML patients with the RUNX1-RUNX1T1 translocation.

translocation


Input: Treatment with gold in the form of aurothiomaleate, silver or mercury (Hg) in genetically susceptible mouse strains (H-2 (s)) induces a systemic autoimmune condition characterized by anti-nuclear antibodies targeting the 34-kDa nucleolar protein fibrillarin, as well as lymphoproliferation and systemic immune-complex (IC) deposits.

fibrillarin

autoimmune condition

fibrillarin

autoimmune condition


Input: Our results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome.

HHH syndrome

HHH syndrome


Input: The present study used the U87 MG and SHG-44 human glioma cell lines as well as the normal human astrocyte cell line 1800, which are known to have differential NDRG1 expression.

glioma


Input: In transformed breast epithelial cells under hypoxia, the mTOR and S6 kinases are constitutively activated and the mTOR negative regulator tuberous sclerosis complex 2 (TSC2) protein fails to function.

hypoxia


Input: Using a tumor necrosis factor (TNF)-α-induced bone marrow (BM)-MSC injury model in vitro and a rat MI model in vivo, we showed in the current study that miR-23a was involved in TNF-α-induced BM-MSC apoptosis through regulating caspase-7 and that the injection of BM-MSCs overexpressing miR-23a could improve left ventricular (LV) function and reduce infarct size in the rat MI model.

MSC

infarct


Input: There were 14 GD + PD patients: all Ashkenazi Jewish; 11 males (78. 6%); mean (range) age diagnosed GD 34. 2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57. 8 (43-70) years; first PD sign was tremor in 9 (64. 3%); cognitive dysfunction in all.

ERT

cognitive dysfunction


Input: We measured cerebral atrophy, medial temporal atrophy (MTA), WMH, and a rating of cerebrovascular disease (CVR) via MRI in 815 participants from 424 families of the Multi-Institutional Research in Alzheimer' s Genetic Epidemiology Study.

MRI

cerebrovascular disease


Input: We discuss the role of ApoJ during cellular senescence and tumorigenesis, especially under the light of the recently demonstrated various ApoJ intracellular protein forms and their interaction with molecules involved in signal transduction and DNA repair, raising the possibility that its overexpression during cellular senescence might cause a predisposition to cancer.

ApoJ

tumorigenesis


Input: Using cells endogenously expressing D3, we found that hypoxia induced expression of the D3 gene DIO3 by a hypoxia-inducible factor-dependent (HIF-dependent) pathway.

hypoxia


Input: To further characterize a previously described phenotypic variant of geographic atrophy (GA) associated with rapid progression and a diffuse-trickling appearance on fundus autofluorescence (FAF).

FAF

geographic atrophy


Input: As ANXA1 constitutively activates NF-κB activity to modulate breast cancer metastasis, we found that miR26b * and miR562 directly targeted the canonical NF-κB pathway by targeting the 3' UTR and inhibiting expression of Rel A (p65) and NF-κB1 (p105) respectively.

metastasis


Input: On induction of differentiation by retinoic acid, a sequential expression was found in human neuroblastoma, where ANKK1 was expressed first, followed by that of DRD2.

neuroblastoma


Input: Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma.

LBC

signet ring cell carcinoma


Input: To determine if human point mutations could be detected using denaturing gradient gels (DGG blots), genomic DNA samples from hemophilia A families were analyzed for mutations in the factor VIII (FVIII) gene.

FVIII

hemophilia A

FVIII

hemophilia A


Input: We investigated the anticancer effects of tanshinones on the highly invasive human lung adenocarcinoma cell line, CL1-5.

lung adenocarcinoma


Input: In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted FRMD7 expression in neuronal tissue with strong hybridization signals within the afferent arms of the vestibulo-ocular reflex consisting of the otic vesicle, cranial nerve VIII and vestibular ganglia.

arms


Input: Sixty days after induction of meningitis, the animals underwent behavioral tests, after were killed and the hippocampus and cortex were retired for analyze of the BDNF and NGF levels.

NGF

meningitis


Input: Malignant transformation of colonic mucosa is associated with alterations in CD44 expression, which result in up-regulation of high-molecular-weight CD44 isoforms and down-regulation of CD44s.

weight


Input: Elderly patients with a V592fs/8 mutation in the MyBPC gene may evolve into the " end-stage " HCM, characterized by left ventricular systolic dysfunction, cavity dilation, and irreversible heart failure.

MyBPC

dilation


Input: As a consequence house dust mite-and IL-33-driven lung inflammation, late phase cutaneous anaphylaxis, and collagen-induced arthritis were aggravated, in contrast to experimental autoimmune encephalomyelitis and immediate anaphylaxis.

lung inflammation

lung inflammation


Input: Genomic basis of aromatase excess syndrome: recombination-and replication-mediated rearrangements leading to CYP19A1 overexpression.

aromatase excess syndrome

aromatase excess syndrome


Input: This study strongly supports a critical role of Fli1 and Ets1 in the pathological extracellular matrix regulation during fibrosis and cancer.

fibrosis


Input: Vascular endothelial growth factor A (VEGFA) is a critical proangiogenic factor that is activated by hypoxia at both the transcriptional and post-transcriptional levels.

VEGFA

hypoxia


Input: Intracerebroventricular injection of salmon calcitonin (1 micrograms/kg) prevented apomorphine-induced hyperactivity in 2, 7, 18 or 21 month old rats, but potentiated haloperidol-induced catalepsy only in 2 or 7 month old rats.

calcitonin (1

catalepsy

calcitonin (1

catalepsy


Input: Moreover, we found that cytoplasmic p27 bound to a cleaved intermediate (p43/p41) of caspase 8 and that inhibition of cytoplasmic translocation of p27 reduced gefitinib-induced cell death in HCC827 cells.

translocation


Input: Modulation of these microRNAs resensitizes PTX-resistant cancer cells by targeting BCL10, caspase-7, and ZEB1.

resistant cancer


Input: We found that hypoxic stress induced the expressions of HIF-1alpha, COX-2, and VEGF, and that IkappaBalphaM completely suppressed these expressions in vitro.

VEGF

hypoxic


Input: These findings suggested that ATP7B gene expression might be a chemoresistance marker for cisplatin in patients with poorly differentiated breast carcinoma.

breast carcinoma

breast carcinoma


Input: Resveratrol inhibits hypoxia-induced accumulation of hypoxia-inducible factor-1alpha and VEGF expression in human tongue squamous cell carcinoma and hepatoma cells.

VEGF

hypoxia


Input: Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear. In this article we describe a family with a novel protein truncating mutation of c. 2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on.

LS

LS


Input: Here we observed a positive effect of endogenous PTHrP on LoVo (human colon cancer) cell proliferation, migration, invasion, integrin alpha6 and beta4 expression, and p-Akt levels.

colon cancer


Input: Fentanyl/propofol anesthesia, supplemented by postoperative morphine where necessary, protects from surgical stress and postoperative pain, as denoted by no postoperative increase of beta-endorphin in all age groups.

beta-endorphin

anesthesia


Input: Parvovirus B19 (B19) disease is a rare cause of anemia in cancer patients and often goes unrecognized, causing delays in anticancer therapy.

cancer


Input: For example, submicroscopic perturbations of the RB1 and p53 tumor suppressor genes, located in 13q14 and 17p13, respectively, frequently occur in leukemias; this has been confirmed by molecular methods such as fluorescence in situ hybridization (FISH).

FISH

leukemias


Input: The short alleles of 5-HTTLPR moderated the relationship between childhood maltreatment and chronic depression in adulthood, reflected in a significant gene-environment interaction (RD = 0. 226, 95% CI: 0. 076-0. 376, P =. 0032).

chronic depression

chronic depression


Input: NBPF1 (Neuroblastoma Breakpoint Family, member 1) was originally identified in a neuroblastoma patient on the basis of its disruption by a chromosomal translocation t (1; 17) (p36. 2; q11. 2).

Neuroblastoma Breakpoint Family, member 1

chromosomal translocation


Input: Nutrient intake, weight, and Leu7Pro polymorphism in prepro-neuropeptide Y in children.

prepro-neuropeptide Y

weight


Input: Ectopic expression of mutant KRAS (K-ras (V12)) in Caco-2 cells (K-ras (WT)) induced ADM, whereas selective knockdown of mutant KRAS alleles (K-ras (D13) or K-ras (V12)) in HCT116, DLD1 and SW480 colon cancer cells suppressed the expression of ADM in hypoxia.

ADM

hypoxia


Input: No other sociodemographic (e. g., education and income), clinical (e. g., systolic BP and smoking), or laboratory (e. g., net endogenous acid production, urinary sodium and potassium excretions, 25-hydroxy vitamin D, intact parathyroid hormone, or fibroblast growth factor 23) variables modified the association between APOL1 and CKD progression (P interaction > 0. 05 for each).

fibroblast growth factor 23

smoking


Input: We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.

betacellulin

EPP

betacellulin

EPP


Input: In addition, higher IL-22 and IL-17A mRNA levels were detected in both AR and asymptomatic seroatopic children, compared to healthy individuals, and a correlation between IL-22 and IL17A mRNA and serum total IgE levels was demonstrated.

asymptomatic


Input: AID binds to transcription-induced structures in c-MYC that map to regions associated with translocation and hypermutation.

AID

translocation


Input: It has been reported previously that the bcl-2 protooncogene protein is detectable in neoplastic cells from cases of human lymphoma in which the 14; 18 chromosomal translocation is present, but not in lymphomas that lack this chromosomal rearrangement or in normal lymphoid tissue.

chromosomal translocation


Input: The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa.

Usher syndrome type IIa

Usher syndrome type IIa


Input: Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD.

MCD

MCD


Input: In the present study, the action of anti-inflammatory agents, nordihydroguaretic acid (NDGA) is analyzed in HIV-1 infected CXCR4 (+), CCR5 (+) and CD4 (-) SK-N-SH neuroblastoma, CXCR4 (+), CCR5 (+) and CD4 (-) 1321N1 astrocytoma and CXCR4 (+), CCR5 (+/-) and CD4 (-) GO-G-CCM glioblastoma cell lines.

glioblastoma


Input: The extent to which these events in the phagosomes of human PMN contribute to the increased morbidity and mortality of infections with USA300 (LAC) merits further study.

LAC

infections


Input: Our results extend the correlation between dismal prognosis and Kv10. 1 expression to patients with brain metastases or GBMs and, moreover, they strongly suggest a role of tricyclic antidepressants for personalized therapy of brain malignancies.

Kv10. 1

brain metastases


Input: A single nucleotide polymorphism (SNP) (-50 T/C) falling into the effective promoter region (nt-171 to + 29) of the gene coding for glycogen synthase kinase 3-beta (GSK3-beta) has been linked with different age at onset of bipolar illness and with different antidepressant effects of total sleep deprivation.

glycogen synthase kinase 3-beta

sleep deprivation


Input: Six binding elements for Wnt/β-catenin signalling transcription factor binding elements (T-cell factor/lymphoid enhancing factor) were identified in the human ALDH1B1 gene promoter (3 kb) but shown by dual luciferase reporter assay to not be necessary for ALDH1B1 mRNA expression in colon adenocarcinoma cell lines.

colon adenocarcinoma


Input: To investigate the associations among the number of polyploid giant cancer cells (PGCCs) and vasculogenic mimicry (VM), EZH2 expression, and serous ovarian tumor grade, a total of 80 paraffin-embedded serous ovarian tumor samples including 21 cases of primary carcinoma and their metastatic tumors, 26 cases of primary carcinoma without metastasis, and 12 cases of serous borderline cystadenoma were analyzed.

giant


Input: Malignant growths in the gp130 (F/F): Kras (G12D) model displayed features of atypical adenomatous hyperplasia, adenocarcinoma in situ, and invasive adenocarcinoma throughout the lung, as compared with parental Kras (G12D) mice, where STAT3 was not hyperactivated.

adenocarcinoma in situ


Input: Stimulation of human U87-MG glioma cells by membrane-permeable dibutyryl cAMP (dbcAMP) not only elicited their morphological changes but also induced expression of IEX-1 as well as S-100 and GFAP.

glioma


Input: Loss of ACE2 resulted in decreased weight gain but increased glucose intolerance, epicardial adipose tissue (EAT) inflammation, and polarization of macrophages into a proinflammatory phenotype in response to HFD.

weight gain


Input: A second patient had decidualized endometriosis forming a large abdominal mass and HMGA1 rearrangement by FISH.

FISH

endometriosis


Input: The study populations indicating a strong association between TNF-α G-308A and IL-6 G-174C substitution with infertile men which is further supported by allele and genotype meta-analysis and thus established it as a risk factor.

infertile


Input: Patients showing clonal BM MCs were grouped into indolent systemic mastocytosis without skin lesions (ISMs (-); n = 48) and other c-MCADs (n = 3)-both with CD25 (+ +) BM MCs and either positive mast/stem cell growth factor receptor gene (KIT) mutation or clonal human androgen receptor assay (HUMARA) tests-and nc-MCAD (CD25-negative BM MCs in the absence of KIT mutation; n = 32) and compared for their clinical, biological, and molecular characteristics.

indolent systemic mastocytosis


Input: Gastroesophageal reflux is a risk factor for esophageal adenocarcinoma, and bile acid and its farnesoid X receptor (FXR) have been implicated in esophageal tumorigenesis.

FXR

esophageal


Input: Moreover, we find the presence of an AID/APOBEC mutational signature in esophageal adenocarcinomas, a type of tumor where APOBEC1 is expressed, that mimics the one preferred by APOBEC1 in vitro.

AID

esophageal


Input: This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.

paramyotonia congenita

paramyotonia congenita


Input: Although the role of nuclear ASPP2-Bcl-2 complexes is still unclear, our results suggest that nuclear ASPP2 can prevent the translocation of the remaining Bcl-2 to the cytoplasm by binding to Bcl-2 in a CHOP-dependent manner, and this effect also contributes to Beclin-1-initiated autophagy.

translocation


Input: These results suggest that common AGGF1 variants confer risk of KTS.

KTS

KTS


Input: However, five muscle biopsies from central core disease presumably with disturbed intracellular Ca2 + homeostasis and a muscle biopsy from paramyotonia congenita with myotonia showed no activation of these proteins.

paramyotonia congenita


Input: These results suggest that TLR4, IL17A, IL17F and IL23R polymorphisms as well as the expression of microRNAs that regulate inflammation and the TH17 pathway are associated with the evolution and progression of the colorectal tumor that could be considered as biomarkers in colorectal cancer.

inflammation


Input: Erythropoietin receptor expression and correlation to tamoxifen response and prognosis in breast cancer.

Erythropoietin receptor

breast cancer

Erythropoietin receptor

breast cancer


Input: We and others previously showed that polyamines (PA) like spermidine and spermine are essential for NB tumorigenesis and that DFMO, an inhibitor of the key PA synthesis gene product ODC, is effective both in vitro and in vivo, securing its evaluation in NB clinical trials.

ODC

tumorigenesis


Input: Activation of matrix metalloproteinases (MMPs) facilitates smooth muscle cell (SMC) invasion, an important event in the development of intimal hyperplasia in saphenous vein (SV) bypass grafts.

SMC

intimal hyperplasia


Input: In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E.

glucokinase

glucokinase


Input: We therefore report here on the immunocytochemical expression of three small proteoglycans, i. e., decorin, biglycan, and the recently described PG-100, in normal human skin and in basal cell carcinoma.

biglycan

basal cell carcinoma


Input: We compared the expression of GLS1 and GLS2 in a large set of clinical samples including HCC, normal liver, and other liver diseases.

HCC

liver diseases