Input: We demonstrate the etoposide-induced accumulation of GFP-LC3 dots by fluorescent microscopy, the up-regulation of LC3-II protein expression by Western blotting and the increased number of autophagic vacuoles by electron microscopy, confirming the activation of autophagy by etoposide in HepG2 cells.

autophagic vacuoles


Input: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

BRAF

cardio-facio-cutaneous syndrome

BRAF

cardio-facio-cutaneous syndrome


Input: Salivary adenoid cystic carcinoma (SACC) is a frequent subtype of salivary gland malignancy, and it has an important biological behavior for perineural invasion (PNI).

PNI

adenoid cystic carcinoma


Input: Guggulsterone significantly reduced cell viability in colon cancer cells in a dose-dependent manner and blocked VEGF, ARNT and STAT3 expression prominently in hypoxic conditions.

VEGF

hypoxic


Input: The PTEN-9C > G polymorphism was not associated with MetS or its hyperglycemia, hypertension and hypertriglyceridemia components.

PTEN

hypertriglyceridemia


Input: This multiplex RT-PCR assay appears equivalent to FISH in terms of accuracy, simplicity, and turnaround time and both are superior to Southern blot and conventional cytogenetics in the laboratory monitoring of Ph1-positive leukemias.

FISH

leukemias


Input: Either the TNFA gene itself or a linked gene on chromosome region 6p21, which has yet to be identified, is a candidate gene for susceptibility to atopy.

TNFA

atopy


Input: ]), while they were associated to several dermatological (except PASI), serological and genetic parameters: psoriasis (all p < 0. 0001), palmoplantar psoriasis (wrist and hand AS p < 0. 0005 and p < 0. 005, respectively), hand psoriasis (all p < 0. 0001), nail dystrophy (hand AS p < 0. 05, PT p < 0. 0001, erosions p < 0. 0001); positive CRP (all p < 0. 0001), ESR (wrist and hand AS p < 0. 005 and < 0. 0005, respectively, TS, PT and erosions p < 0. 0001) and ACPA-even if represented only in 1. 78% of patients-(wrist and hand AS and TS p < 0. 0001, PT p < 0. 5); HLA-B27 (wrist and hand AS p < 0. 0001, TS p < 0. 01, PT p < 0. 05),-B35 (wrist and hand AS p < 0. 01 and p < 0. 05, respectively),-B38 (wrist and hand AS p < 0. 0001, TS p < 0. 0001, PT p < 0. 005),-CW6 (wrist AS p < 0. 05),-DR4 (wrist and hand AS p < 0. 0001, TS p < 0. 0001, PT p < 0. 005).

CRP

nail dystrophy


Input: It has been shown that bromocriptine-induced tachycardia, which persisted after adrenalectomy, is (i) mediated by central dopamine D2 receptor activation and (ii) reduced by 5-day isoproterenol pretreatment, supporting therefore the hypothesis that this effect is dependent on sympathetic outflow to the heart.

dopamine D2 receptor

tachycardia

dopamine D2 receptor

tachycardia


Input: Although no change in the PLC delta (1) mRNA level in ischemia was detected, SL PLC delta (1) activity and content were depressed.

PLC

ischemia


Input: Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

desmin

desmin-related myopathy

desmin

desmin-related myopathy


Input: Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese-NGT and obese-GDM, compared with NW women.

MnSOD

GDM

MnSOD

GDM


Input: Hyperhomocysteinemia-induced decrease in nephrin expression and increase in desmin expression in gp91 (+/+) mice were not observed in gp91 (-/-) mice.

desmin

Hyperhomocysteinemia

desmin

Hyperhomocysteinemia


Input: Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities.

EBP

pruritus


Input: Real-time PCR and Western blotting were performed to detect the expression of GRP78, p-eIF2α, spliced XBP1, ATF6, ATF4 and p-IRE1α in the lenses of normal human subjects and patients with age-related, myopia-related or congenital cataracts.

myopia


Input: Here, we demonstrate that stably silencing CREB expression in two human metastatic melanoma cell lines, A375SM and C8161-c9, suppresses tumor growth and experimental metastasis.

CREB

metastatic melanoma


Input: Vascular maturation was detected in vivo by vasoreactivity to hypercapnia, measured by BOLD contrast MRI and validated by immunostaining of histologic sections to alpha-smooth muscle actin.

smooth muscle actin

hypercapnia


Input: In this study, we investigated the CICR activity of 14 mutations at 10 different positions in the central region of RYR1 (10 MH and four MH/CCD mutations) using a heterologous expression system in HEK293 cells.

CCD

CCD


Input: SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

NBEA

autism

NBEA

autism


Input: We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis: a one base transition in exon8, c926T & gt; C, causing a single amino acid substitution leucine--& gt; proline, L309P; A 3' splice site mutation in intron 2, c121-1G & gt; A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G & gt; A leading to residue G79E.

cathepsin K

pycnodysostosis

cathepsin K

pycnodysostosis


Input: The high rate of cpb2-positivity among strains from neonatal pigs with enteritis and the high correlation of genotype with phenotype, supports the contention that beta2 toxin plays a role in the pathogenesis of these infections.

infections


Input: Here, we further studied hypoxic induction of HIF-1alpha, HIF-2alpha, CA IX, and VEGF in NPC cell lines, investigated hypoxia-modulated gene expression in NPC cell lines by Affymetrix GeneChip Array expression profiling, and identified pathways influenced by hypoxia and novel genes not previously recognized as hypoxia-inducible.

VEGF

hypoxia


Input: We focused our attention on the HLA haplotypes marked by HLA-A, HLA-B and HLA-DRB1 polymorphisms in 1206 healthy Caucasian newborns belonging to the Cord Blood Bank of Pavia (Italy) and their mothers, aiming to investigate the association between this restricted HLA region and birth weight variation.

birth weight


Input: However, no significant correlation between B7. 1 or B7. 2 expression and regression of the tumour, TTP or OS was found.

B7. 2

regression


Input: Our findings may also implicate the whole family of HERG channels (HERG1, HERG2 and HERG3) in the pathogenesis of psychosis and its treatment.

psychosis

psychosis


Input: By using an amplification-created restriction site method, the precore TAG mutant of hepatitis B virus was detected in 6 (75%) of 8 acute fulminant hepatitis B patients, 7 (58%) of 12 acute self-limiting hepatitis B patients, 35 (81%) of 43 hepatitis B virus surface antigen carriers with fulminant hepatitis, and 42 (70%) of 60 hepatitis B virus surface antigen carriers with chronic hepatitis.

TAG

fulminant hepatitis


Input: The results show main effects of the COMT gene variant (P =. 002), birth weight (P =. 002), and a significant gene x environment (COMT x birth weight) interaction (P =. 006).

COMT

birth weight


Input: Mice harboring the " white spotting " (W) locus have abnormalities in hematopoiesis due to one of various mutations of the c-kit proto-oncogene, which encodes the stem cell factor (SCF) receptor.

SCF

abnormalities


Input: In addition, EYA4 methylation may be identified in stool samples and it serves as a potential stool biomarker for detection of advanced adenoma and CRC.

adenoma


Input: To investigate whether IGF-I promoter polymorphism was associated with birth weight and risk factors for cardiovascular disease (CVD) and type 2 diabetes (T2DM), and whether the birth weight--risk factor relationship was the same for each genotype.

IGF-I

birth weight


Input: This study aimed to confirm the contribution of IRF6 to cleft lip with or without palate risk in additional Asian populations.

cleft lip

cleft lip


Input: The significant changes in DISC1 and unc5H3 may be relevant to cerebellar dysfunction and schizophrenia respectively, in which these proteins have been previously implicated.

schizophrenia

schizophrenia


Input: In FSGS glomeruli GLEPP1 was frequently absent from VGECs, even when no sclerosis was detectable in that glomerulus.

sclerosis


Input: The function of RTP is unknown, however, the strong upregulation of RTP during cellular differentiation, and exposure to stress conditions including hypoxia suggests a specific role for RTP in these processes.

RTP

hypoxia


Input: The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5. 0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0. 3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0. 1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls.

LHON

LHON


Input: One 15-bp insertion/deletion in exon 4 of TIM 1 was significantly related to atopy and eczema (relative risk associated with carrying at least 1 rare allele = 1. 24 [1. 07--1. 45], P =. 005; and 1. 43 [1. 01--2. 01], P =. 004, respectively).

TIM

atopy


Input: The protein levels of vascular endothelial growth factor (VEGF) were examined by western blot analysis and hypoxia-inducible factor-1α (HIF-1α) translocation was investigated by immunofluorescence.

translocation


Input: In spite of the frequent coexistence of RAD and CAD, no studies have specifically compared ACE insertion/deletion (I/D) polymorphism in patients with coronary versus renal artery disease or defined the risk of each disease associated with the D variant.

RAD

renal artery disease


Input: After validating these data by MassArray Epityper, the promoter region of peptidase M20 domain containing 1 (PM20D1) gene was significantly hypermethylated in stroke patients.

stroke


Input: Genetic deletion of three genes in mice, Hoxb8, Sapap3, and Slitrk5, leads to pathological behaviors including adult-onset excessive grooming with mild-to-severe hair loss and self-injury.

self-injury


Input: It has recently been demonstrated that malignant glioma cells express certain known tumor-associated antigens, such as HER-2, gp100, and MAGE-1.

malignant glioma


Input: Of the twelve nasopharyngeal carcinomas expressing bcl-2, none showed a t (14; 18) chromosome translocation.

chromosome translocation


Input: We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2.


Input: Spectral-domain OCT detected all cases of angiographic edema and areas of outer retinal dysfunction that were hypoautofluorescent on AF.

OCT

edema


Input: The U87 glioma cells relatively resistant to Ph-PDT were obtained by recovering the viable cells 3 h after PDT treatment.

glioma


Input: We found no significant differences in calcium-or calmodulin-dependent (Ca2 +, Mg2 +) ATPase kinetics between patients with FBH or primary hyperparathyroidism and their age-and sex-matched normal subjects.

primary hyperparathyroidism


Input: Moreover, CETP * V was found to be associated with hypertriglyceridemia (hTG) independently from APOE * 4, age, BMI, alcohol drinking, TC, TG, HDL-c, and LDL-c.

CETP

alcohol drinking


Input: A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.

mulibrey nanism

mulibrey nanism


Input: Genotyping was performed in 107 D/R DNA pairs for gene polymorphisms of cytokines (tumor necrosis factor-alpha [TNF-alpha] and TNF-beta, interleukin-1 receptor antagonist [IL-1Ra], IL-6, and IL-10), adhesion molecules (CD31 and CD54), Fcgammareceptors (FcgammaRIIa, IIIa, IIIb), mannose-binding lectin (MBL), and myeloperoxidase (MPO).

MBL

adhesion


Input: The cytokine IL-22, which is produced by T cells and NK cells, is associated with tumorigenesis and tumor progression in cancers.

tumorigenesis


Input: Understanding the mechanisms underlying the role of CTGF in airway remodelling may lead to new therapeutic strategies for asthma.

CTGF

airway remodelling


Input: In congruence with its role in cancer, NPM is over-expressed in primary malignant lung cancer tissues.

NPM

lung cancer


Input: Circulation of GPC-3-mRNA was detected in HCC patients with relation to TNM stage, periportal cancerous embolus, and extra-hepatic metastasis.

GPC

embolus


Input: Among atopic workers with CD-14 (-550) polymorphism CC, IL-8 was lower.

atopic


Input: The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy.

SYP

XLMR

SYP

XLMR


Input: A total of 73 persons were enrolled: 21 patients with mild AD, 21 with moderate-to-severe AD, 13 with X-linked ichthyosis (XLI) as a negative control for filaggrin gene (FLG) mutation, and 18 healthy controls.

FLG

mild


Input: The majority of FLs display a t (14; 18) translocation that places the bcl-2 gene into juxtaposition with the lg heavy-chain (H) gene locus.

bcl-2 gene

translocation


Input: In this study we have demonstrated for the first time that connexin 43 but not connexin 32 is specifically and quite frequently mutated in human colon sporadic adenocarcinomas.

connexin 43

sporadic


Input: In 12 patients on hemodialysis and in 6 patients with preterminal renal failure serum, EPO was 29 +/-7 and 16 +/-1. 5 mU/ml and hemoglobin concentrations were 11. 0 +/-0. 6 and 12. 7 +/-1. 2 g/dl, respectively.

EPO

hemoglobin


Input: Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.

mild


Input: The stress-inducible chaperone protein HSP70 (HSPA1) is implicated in melanoma development, and HSP70 inhibitors exert tumor-specific cytotoxic activity in cancer.

melanoma

melanoma


Input: In conclusion, the present study confirms the efficiency of the SKY technique in resolving and characterizing many complex chromosome anomalies seen in childhood B-ALLs, but it raises questions about the ability of this technique to detect cryptic rearrangements, such as the t (12; 21) translocation.

SKY

translocation


Input: However, it is now possible to begin to integrate some of the endocrinological abnormalities within the energy balance framework, centred on BAT, that has been developed over the past few years.

BAT

abnormalities


Input: An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: We therefore examined whether TIMP4 is involved in human inflammatory cardiovascular disorders, specifically atherosclerosis, giant cell arteritis and chronic rejection of heart allografts.

atherosclerosis


Input: Moreover, patients with the HYA haplotype encountered significantly more febrile neutropenia than patients without this high MBL-producing haplotype (16% versus 4%).

HYA

febrile neutropenia


Input: Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12.

CHED

CHED


Input: Mutations in mullerian inhibiting substance (MIS) or MISRII cause male sexual abnormalities, persistent mullerian duct syndrome, and pseudohermaphroditism.

MIS

abnormalities


Input: Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations.

Fanconi-Bickel syndrome

Fanconi-Bickel syndrome


Input: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

apparent mineralocorticoid excess

apparent mineralocorticoid excess


Input: Detection of JAZF1, SUZ12, EPC1, and PHF1 rearrangement by fluorescence in situ hybridization was performed on tissue microarrays consisting of 94 ESTs of classic and variant morphology (20 ESNs, 43 primary uterine ESSs, 15 metastatic uterine ESSs, 4 primary extrauterine ESSs, 7 primary uterine UESs, and 5 unclassified ESTs), 16 Müllerian adenosarcomas, 2 malignant mixed Müllerian tumors, 2 uterine tumors resembling ovarian sex-cord tumors, 2 highly cellular leiomyomas, 1 leiomyosarcoma, and 7 polypoid endometriosis.

ESSs

leiomyosarcoma


Input: A pattern of lipoprotein abnormalities characterized by increased hepatic production of apolipoprotein B-containing lipoprotein particles, high blood pressure, visceral obesity, and peripheral insulin resistance are identified with increasing frequency in subjects with premature coronary artery disease (CAD).

apolipoprotein B

abnormalities


Input: The level of DAPK protein expression was significantly low in atrophic gastritis compared with those without atrophy (P = 0. 003).

DAPK

atrophic gastritis


Input: Twenty-seven% of anti-AnnV positive patients reported migraine vs 5. 5% of anti-AnnV negatives (p = 0. 003, but p not significant, odds ratio (OR) = 6. 4, 95% confidence interval (CI) = 2-21).

migraine


Input: In conclusion, the present study is, to the best of our knowledge, the first to demonstrate that the overexpression of TAZ induces EMT, increasing the invasive abilities of neuroblastoma cells.

EMT

neuroblastoma


Input: Melanomas isolated from subcutaneously implanted mice, 25 days from treatment with AICAR, showed increased staining of the senescence-associated marker β-galactosidase, high p21 expression, and evidence of necrosis.

necrosis


Input: These findings suggest that in humans there is an increased bone marrow pool of CCR3 (+) mature and immature eosinophils available for rapid mobilization in subjects with asthma but not in atopic subjects with no asthma.

atopic


Input: Isochromosome of the long arm of the derivative chromosome 17, originating from the translocation t (15; 17) [ider (17) (q10) t (15; 17) or ider (17q)] in acute promyelocytic leukemia (APL), is a rare chromosome aberration which has been associated with a poor prognosis.

acute promyelocytic leukemia


Input: Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.

alcohol dependence

alcohol dependence


Input: Keywords: thyroid-stimulating hormone receptor, papillary thyroid microcarcinoma, diagnosis.

hormone receptor

papillary thyroid microcarcinoma


Input: RTCB-1 is the worm ortholog of the human HSPC117 protein, a component of RNA trafficking granules in mammalian neurons.

worm


Input: The enzyme aldosterone synthase is not only expressed in the zona fasiculata but is also regulated by adrenocorticotrophic hormone in this condition.

aldosterone synthase

zona


Input: The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome.

BNAR

BNAR


Input: Moreover, potent pharmacologic inhibitors of MYC or EZH2 suppressed prostate cancer cell growth in vitro, and the knockdown of MST1 caused cells' resistance to MYC and EZH2 inhibitor-induced growth retardation.

MYC

growth retardation


Input: Genotyping results of the Glu298Asp polymorphism of the NOS3 were analyzed between the endometriosis and control group.

endometriosis


Input: The 1 meningioma with a CDKN2/p16 deletion was a meningothelial meningioma, without atypical or malignant features.

meningothelial meningioma


Input: Taken together, these results suggest that 5-HT (1A) receptor activation is a critical step in the activation of seizure-induced cell proliferation and survival in the dentate gyrus, however, not for the onset of spontaneously recurrent seizures and MFS.

5-HT (1A

seizure

5-HT (1A

seizure


Input: Given the very poor prognosis of infantile spasms especially in such conditions as cerebral palsy, the combination of ACTH and vigabatrin appears to be an interesting therapy advance with very few side effects.

ACTH

cerebral palsy

ACTH

cerebral palsy


Input: Circulating levels of certain angiogenic cytokines correlate with patients' prognosis after resection for pancreatic cancer, if a panel of several CAC is considered simultaneously.

CAC

pancreatic cancer


Input: These observations suggest the contribution of the CCR1-CCL3 axis to HCC progression.

HCC

HCC


Input: The antagonist of IP3R, 2APB, inhibited cell proliferation and induced apoptosis in gastric cancer cells from malignant ascites at concentrations of 100 nM to 100 microM in a dose-dependent manner.

gastric cancer


Input: We analyzed the expression of the hypoxia-regulated genes, including hypoxia-inducible factor-1alpha (HIF-1alpha), erythropoietin (Epo), vascular endothelial growth factor (VEGF), glucose transporter 1 (GLUT1), carbonic anhydrase IX (CAIX), and MET, in cervical cell lines and human tissue samples of cervical intraepithelial neoplasia (CIN I-III) and invasive squamous cell carcinoma (ISCC).

VEGF

hypoxia


Input: A functional cooperation among the transcription factors mediating hypoxia (HIF-1, Sp1), the TGF-beta pathway (Smad3/4), and tissue-specific HNF-4 is proposed for the regulation of the Epo gene.

TGF-beta

hypoxia


Input: The effect of luteolin on t-BH-induced and hypoxia-induced VEGF transcription and expression were evaluated by RT-PCR and Western blot, respectively.

VEGF

hypoxia


Input: Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53.

LFS

LFS


Input: We report the case of a female never-smoking patient with an epidermal growth factor receptor (EGFR) mutation positive advanced non-small cell lung cancer (NSCLC) who received multiple lines of treatment.

EGFR

smoking


Input: Using double in situ hybridization in postmortem human prefrontal cortex, we found that the messenger RNA (mRNA) for the γ-aminobutyric acid (GABA) transporter GAT-1 was undetectable in 22-41% of PV neurons in layers 3-4 in schizophrenia.

GAT

schizophrenia


Input: The translocation occurred in the 5' region of the BCL5 gene, and the protein-coding exons were fused to the Ig-lambda gene in a head-to-head configuration in the cell line carrying t (3; 22).

BCL5 gene

translocation


Input: These results confirm that genetic variation at the FTO locus contributes to the etiology of obesity, insulin resistance, and increased plasma leptin levels.

FTO

insulin resistance


Input: We analyzed repair of oxidative DNA damage by the base-excision repair (BER) pathway, which when aberrant leads to genomic instability and breast carcinogenesis, in cell lines that represent the different subtypes of breast cancer and in the presence of BRCA1 deficiency.

genomic instability


Input: Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.

PDC

PDC


Input: These lymphomas are aggressive and show high proliferation rate due to the growth advantages provided by MYC and BCL2 translocation and overexpression.

translocation


Input: HRG and COX-2 expressions in surgical resections of human gastric ulcer tissue were examined immunohistochemically.

HRG

gastric ulcer


Input: Univariate analyses revealed several CNAs significantly associated with ethnicity, EGFR mutation, and smoking, but not to gender, and KRAS or p53 mutations.

EGFR

smoking


Input: LKB1, the human gene encoding a serine threonine kinase, was recently identified as a susceptibility gene for Peutz-Jeghers syndrome (PJS), a disease characterized by the constellation of intestinal hamartomata, oral mucocutaneous hyperpigmentation, and an increased risk for gastrointestinal as well as extraintestinal malignancies.

hyperpigmentation


Input: Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive occlusion of the terminal portion of the internal carotid arteries and their branches.

MMD

cerebrovascular disease


Input: Tumor necrosis factor (TNF) is a potent proinflammatory cytokine involved in asthma and atopy.

TNF

atopy


Input: The studies of pedigrees have shown dilated cardiomyopathy (DCM) is related with mutation of PLB.

PLB

dilated cardiomyopathy


Input: DYX3, a locus for dyslexia, resides on chromosome 2p11-p15.

dyslexia


Input: To assess the role of polymorphisms in the beta2-adrenergic receptor gene in the development of obesity and obesity-related metabolic disorders, we analysed Arg16Gly, Gln27Glu, and Thr164Ile polymorphisms in 400 non-obese subjects (body mass index < 27 kg/m2) and 108 obese subjects (body mass index > or = 27 kg/m2).

body mass index


Input: Combination of AQP3-siRNA with cisplatin, a major anti-cancer drug, strongly inhibited the growth of SCC.

SCC

SCC


Input: Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER.

secondary


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

major depression

major depression


Input: These data suggest that chronic binge drinking and the resulting liver disease shifts the key enzyme in alcohol metabolism from low-K (m) ADH1 to high-K (m) ADH3, thereby reducing the rate of alcohol metabolism.

binge drinking


Input: The DMH is therefore a useful model for studying the abnormalities of the E-cadherin-catenin pathway in colorectal carcinogenesis.

E-cadherin

abnormalities


Input: Moreover, CCL18 effluent concentrations correlated with decreased peritoneal function, which was evaluated as dialysate to plasma ratio of creatinine (r = 0. 724, P < 0. 0001), and were significantly higher in patients with UFF (P = 0. 0025) and in those who later developed sclerosing peritonitis (P = 0. 024).

peritonitis


Input: Mutations were found in 11 (36%) of 31 sporadic colon carcinomas, 4 (50%) of 8 hereditary colorectal cancers, and 5 (22%) of 23 RER + gastric carcinomas, but in only 2 (6%) of 32 RER-gastric carcinomas.

RER

carcinomas


Input: Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails.

hand-foot-genital syndrome

hand-foot-genital syndrome


Input: In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL-and SH3TC2-associated Charcot-Marie-Tooth disease.

gigaxonin

giant


Input: The MCL1 gene, recently identified in a myeloid leukemia cell line, has sequence similarity to BCL2, the gene at the t (14; 18) translocation in follicular lymphoma.

translocation


Input: Thus, high levels of Mps1 in breast cancer cells likely contribute to these cells tolerating aneuploidy.

aneuploidy


Input: IL-17F is a recently discovered cytokine that plays a role in tissue inflammation by inducing release of proinflammatory and neutrophil-mobilizing cytokines.

inflammation


Input: The most common cytogenetic abnormality in these tumors is t (7; 17) (p15; q21), which occurs in 33% to 80% of cases and results in a JAZF1-JJAZ1 gene fusion.

cytogenetic abnormality


Input: Expression of DRCTNNB1A in SW480 colon cancer cells was significantly increased in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of the beta-catenin-binding domain of the adenomatous polyposis coli gene into the cells.

adenomatous polyposis coli


Input: Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: Novel genes specific for human oligodendroglioma and glioblastoma multiforme (GBM) were detected using the gene array analysis [18, 376 genes Gene Discovery Array (GDA) from Incyte Genomics, Inc.].

GDA

glioblastoma multiforme


Input: LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

sporadic


Input: Furthermore, soluble TSP did not bind SS-RBCs as detected by flow cytometry, nor inhibit SS-RBC adhesion to immobilized TSP under conditions of flow, indicating that the adhesive site on TSP that recognizes SS-RBCs is exposed only after TSP binds to a matrix.

TSP

adhesion


Input: ]-β, IL-10, IL-Ra), and other immunoregulatory factors (FcγRIIa, NOS3) along with the conventional risk factors on the rate of hematopoietic recovery and first episodes of bacterial, viral, or invasive fungal infections in 102 patients with β-thalassaemia major who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) with relatively uniform protocols at our center from June 1995 to June 2004 with a minimum follow-up of at least 2 years were studied retrospectively for 180 days after hematopoietic stem cell transplantation (HSCT).

invasive fungal infections


Input: Recently, it has been shown in the general population that an allele in the adiponutrin (PNPLA3) gene was strongly associated with increased liver fat content (LFC), independently of visceral adiposity and insulin resistance.

insulin resistance


Input: In order to analyze the nervous system of Splotch embryos in more detail, we employed the transgenic mouse line L17.

nervous system


Input: The highest observed numerical chromosome abnormality was high hyperdiploidy in 89 patients (54%) with abnormal karyotype while the TEL-AML fusion was the highest observed structural abnormality.

TEL

chromosome abnormality


Input: In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations.

PJS

PJS


Input: Experiments on cancer cell lines and animal models indicated that alteration in expression of N-myc down-regulated gene 1 (NDRG1) is associated with development of colon cancer.

N-myc

colon cancer


Input: This led to the discovery that iron deficiency is an environmental trigger that stimulates FGF23 expression and hypophosphatemia in ADHR.

ADHR

hypophosphatemia


Input: Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation.

abnormalities


Input: Blood pressure, heart rate, and locomotor activity were measured by radiotelemetry in transgenic mice with ubiquitous expression of human RAMP1 (hRAMP1) and littermate controls.

heart rate


Input: Short hairpin RNA targeting autotaxin reduces human gastric carcinoma AGS cell proliferative, migratory and invasive capabilities in vitro and causes tumor regression in vivo.

autotaxin

gastric carcinoma


Input: This hyperleptinaemia, despite leptin receptor expression in tumours, did not induce significant variation in tumour volume or weight.

leptin receptor

weight


Input: The aim of this review is to consider the evidence regarding the role of the BCR in tumorigenesis of B-cell lymphomas, and discuss different approaches used in evaluating this role in the persistence and progression of these malignancies.

BCR

tumorigenesis


Input: NADPH reductase quinone oxidoreductase 1 (NQO1) is needed to maintain a cellular pool of antioxidants, and this enzyme may contribute to tumorigenesis on the basis of studies in NQO1-deficient mice.

tumorigenesis


Input: Injection of Ad5-yCD/mutTK (SR39) rep-ADP in the dog pancreas at doses (10 (12) virus particle (vp)) to be used in humans resulted in mild pancreatitis but not peritonitis or hepatotoxicity.

ADP

peritonitis


Input: Several adhesion molecules, cytokines, growth factors, and proteases have recently been identified as downstream targets of PAR-1 and have been shown to modulate interactions between tumor cells and the microenvironment in the process of melanoma growth and metastasis.

adhesion


Input: High-dose chemotherapy triggers apoptosis, necrosis and senescence, a cellular stress response leading to permanent proliferative arrest and a typical senescence-associated secretome (SASP).

SASP

necrosis


Input: Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

alveolar capillary dysplasia

alveolar capillary dysplasia


Input: Thus, our data demonstrated that both apoptotic and necrotic actions of cadmium were attenuated by bcl-2.

necrotic

necrotic


Input: Furthermore, we did not detect any association of IL-10 genotype with antinuclear antibody, malar rash, photosensitivity, discoid lupus, mucosal ulcer, arthritis, serositis, hematology, immunology, involvement of central nervous system, and renal disease involvement in the SLE patients.

photosensitivity


Input: Strikingly, all of the tumors with SAS amplification occurred in central sites (i. e., in the abdominal or inguinal regions) rather than in the extremities (i. e., in the arms of legs).

SAS

arms


Input: Promising fusion protein design to target the U87 MG glioma cell line.

glioma


Input: The aim of this study was to evaluate hMLH1, hMSH2, MGMT, as well as MIB-1, p53, and beta-catenin immunoexpression in an uncommon cohort of mixed colonic polyps that contain a combination of hyperplastic and adenomatous features (n = 21), and in some (n = 7), carcinoma as well.

colonic polyps


Input: The TFs investigated are known to be typically responsive to heat shock (HSF), hypoxia (HIF-1), pro-and antioxidant conditions (AP-1), or to various environmental changes (HNF-1 and ATF/CREB family).

CREB

shock


Input: We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.

skin cancer


Input: This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.

STS

X-linked ichthyosis

STS

X-linked ichthyosis


Input: The genes involved in the last 2 pathways are the p53, serine threonine protein kinase 15 (STK15), triple-function domain (TRIO), fragile histidine triad (FHIT), p63 genes; and alterations of 20q and 5p, alterations of adhesions, angiogenesis, and matrix-remodeling gene products also are involved.

adhesions


Input: Our data provide evidence that human cerebral CD90 + perivascular cells possess T cell inhibitory capability comparable to human MSC and suggest that these cells, besides their critical role in tumor vascularization, also promote local immunosuppression in malignant gliomas and possibly other brain diseases.

MSC

vascularization


Input: We show that patients with ALS do not manifest this VEGF overexpression in the presence of hypoxia.

VEGF

hypoxia


Input: Since this receptor is within a potential linkage region, ACTHR/MC-2 could be considered a candidate gene for BP.

ACTHR

BP

ACTHR

BP


Input: MPO-dependent oxidation of lipoproteins has been implicated in foam cell formation, dysfunctional HDL, and abnormalities in reverse cholesterol transport.

MPO

abnormalities


Input: We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.

sterile


Input: In contrast, VHL had no effect on the hypoxia-mediated increase in VEGF expression in these cells, although basal levels of VEGF expression were substantially reduced.

VEGF

hypoxia


Input: Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

lipoprotein lipase

lipoprotein lipase deficiency

lipoprotein lipase

lipoprotein lipase deficiency


Input: Serum withdrawal down-regulated Id1 and Id3 expression in chondrocytes but not the Id1 expression in chondrosarcoma cells.

chondrosarcoma


Input: The levels of HIF-1alpha and VEGF protein expression in SW480 cells were significantly higher in the hypoxia group than in the normoxia group (P < 0. 01, P < 0. 05, respectively) and hypoxia/genistein group (P < 0. 01, P < 0. 05, respectively).

VEGF

hypoxia


Input: Bcl-2 and MALT1 genes are located at or near the translocation breakpoints, and the aim of this study was to determine whether these genes were involved in chromosomal translocation or tumorigenesis.

chromosomal translocation


Input: For expression analysis on transcriptional level quantitative real-time RT-PCR was performed in 22 HCC and 22 non-neoplastic liver cirrhotic tissues.

HCC

non-neoplastic


Input: We explored (i) if EZH2 expression is regulated by hypoxia and ischemia; (ii) the impact of EZH2 on the expression of two pro-angiogenic genes: eNOS and BDNF; (iii) the functional effect of EZH2 inhibition on cultured endothelial cells (ECs); (iv) the therapeutic potential of EZH2 inhibition in a mouse model of limb ischemia (LI).

ischemia


Input: The association of prolactin receptor expression with breast tumorigenesis remains unclear as studies that have focused on this association have had limited sample size and/or information about tumor characteristics.

prolactin receptor

tumorigenesis


Input: The human paracaspase prodomain binds Bcl10, a protein involved in the t (1; 14) (p22; q32) translocation of mucosa-associated lymphoid tissue (MALT) lymphoma.

paracaspase

translocation


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

depression

depression


Input: Furthermore, on ischemia/reperfusion, the oligomerization pattern of Hsp20 appeared to shift to higher aggregates in Hsp20 (S16A) hearts.

ischemia


Input: No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.

c-fos

chronic hepatitis


Input: Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

nucleoporin NUP88

fetal akinesia deformation sequence

nucleoporin NUP88

fetal akinesia deformation sequence


Input: Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.

schizophrenia

schizophrenia


Input: We analyzed the expression of apoptotic genes such as BAX, CASP1, FAS, FAS L, FOS, MDM2, NFkB2, P53, PCNA, TERT, and XRCC1 in coronary plaques collected with directional coronary atherectomy from 15 patients with stable angina and 15 with acute coronary syndromes without ST elevation (ACS).

FOS

stable angina


Input: The segregation of these mutations with disease alleles in 4 and 2 families, respectively, supports the hypothesis that multiple mutations at the phenylalanine hydroxylase locus explain the variable phenylalanine tolerance in patients with phenylalanine hydroxylase deficiency.

phenylalanine hydroxylase

phenylalanine hydroxylase deficiency

phenylalanine hydroxylase

phenylalanine hydroxylase deficiency


Input: The available clinical records, including those referring to four UBE3B mutation-positive subjects recently described as belonging to a previously unreported entity, which fits KOS, document the clinical homogeneity of this disorder.

KOS

KOS


Input: Our work shows that similar to the commoner Type 1 Kabuki syndrome (KS1, MIM 147920) caused by KMT2D (previously called MLL2) mutations, KS2 patients are characterized by hypotonia and feeding difficulties during infancy and poor postnatal growth and short stature.

short stature


Input: In concordance, the increased mRNA levels of BNP and VEGF but not ANP were found on culturing AC16 cells under hypoxic conditions.

VEGF

hypoxic


Input: Isolated invasive fungal infections of unclear cellular basis are associated with CARD9 deficiency, whereas a broad range of clinical manifestations, including those characteristic of T-and B-lymphocyte defects, are associated with CARD11, MALT1, and BCL10 deficiencies.

invasive fungal infections


Input: Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives.

neural tube defects

neural tube defects


Input: The correlations of vital capacity (VC) and diffusing capacity for carbon monoxide (DL (CO)), bronchoalveolar lavage (BAL) fluid cell counts and high resolution computed tomography (HRCT) alveolar and interstitial scores with different genotypes of IL-4 at (-1098), (-590) and (-33) positions and IL-1 alpha at (-889) position were tested.

vital capacity


Input: The exon 7 [840 (CGT--> CAT), 855 (CGC--> CAC)] was showing micropenis and severe hypospadias.

CAC

hypospadias


Input: Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

congenital contractural arachnodactyly

congenital contractural arachnodactyly


Input: Our results suggest that MCHR1 may influence schizophrenia susceptibility, in particular among men and patients responding to conventional (nonclozapine) treatment.

schizophrenia

schizophrenia


Input: The trend of reduced p27 expression in microinvasive and invasive carcinomas suggests that down-regulation of p27 expression is strongly linked to neoplastic transformation of cervical epithelium, and inactivation of p27 may be an early event in cervical carcinogenesis.

neoplastic transformation


Input: ROCK2 maps to chromosome 2p25, which we have implicated previously in a linkage study of pre-eclampsia.

pre-eclampsia


Input: Our aim was to investigate the influence of genetic variants in CRHR1, CRHR2, CRH-BP and FKBP5 genes on both the vulnerability for depression and the response to antidepressant treatment.

CRH-BP

depression

CRH-BP

depression


Input: In human colorectal adenoma and carcinoma cell lines, downregulation of β-catenin resulted in lower total DR4 and DR5 protein levels.

colorectal adenoma


Input: We genotyped tagSNPs in several genes (ADIPOQ, PRKAA1, PRKAA2, PRKAB1, PRKAG1, PRKAG2, PRKAG3, FTO and FABP3) that regulate lipid and energy homeostasis for their possible association to antipsychotic-induced weight gain.

weight gain


Input: Here we show that human IDH mutant gliomas exhibit hypermethylation at cohesin and CCCTC-binding factor (CTCF)-binding sites, compromising binding of this methylation-sensitive insulator protein.

CTCF

gliomas


Input: Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

hereditary xerocytosis

hereditary xerocytosis


Input: By inhibiting AKT and human kinase interacting stathmin (hKIS), trastuzumab blocks Thr157-, Thr198-and Ser10-induced p27Kip1 translocation from the nucleus to the cytosol, which increases the inhibitory effect of p27Kip1.

translocation


Input: Therefore, CRF (2) agonists appear to have both bronchorelaxant and anti-inflammatory activities and might represent an interesting therapeutic approach to the treatment of inflammatory lung diseases.

CRF (2

lung diseases

CRF (2

lung diseases


Input: Biopsied lung tumor was diagnosed as tubular adenocarcinoma, and CK7 (+)/CK20 (+)/Cdx-2 (-).

lung tumor


Input: Measles virus induces oncolysis of mesothelioma cells and allows dendritic cells to cross-prime tumor-specific CD8 response.

oncolysis


Input: In 2 of the 12 advanced cancers, abnormalities of the E-cadherin gene were observed in intramucosal lesions as well as in deeply invaded areas.

E-cadherin

abnormalities


Input: Perforin and granzyme B lytic protein expression during chronic viral and autoimmune hepatitis.

granzyme B

autoimmune hepatitis


Input: Interestingly, treating hepatoma cells with anti-cancer cytotoxic agents results in a robust induction of peroxisome proliferator-activated receptor-gamma coactivator-1α (PGC-1α), a metabolic and energy regulator that is normally induced in the liver under starvation conditions and that has been previously shown to strongly coactivate HBV transcription.

starvation


Input: DIM-D-UltraFLEX-Nano pretreatment delayed the onset of UVB-induced tumorigenesis (2 weeks) and reduced (p < 0. 05) the number of tumors observed in SKH-1 mice (3. 33-fold), which was comparable to pretreatment with sunscreen (SPF30).

tumorigenesis


Input: T cells in Il27ra (-/-) mice accumulate preferentially in the lung parenchyma within close proximity to Mtb, and antigen-specific CD4 + T cells lacking IL-27R are intrinsically more fit than intact T cells and maintain IL-2 production.

fit


Input: Doxorubicin increased the binding of HMGB1 to heat shock factor 2 and enhanced heat shock element promoter activity.

shock


Input: We explored possible interactions with body mass index and components in the IGF-1 pathway including IGFBP3, PI3k, and PTEN but none of these factors influenced the relation between IRS-1 genotype and prostate cancer risk.

body mass index


Input: As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality.

KAL1 gene

unilateral renal hypoplasia


Input: We found that C1orf61 is up-regulated in hepatic cirrhosis tissues and is further up-regulated in primary HCC tumors.

hepatic cirrhosis


Input: Using a human-scid model of IBC (MARY-X), we have demonstrated using retrovirally-mediated dominant-negative E-cadherin mutant approaches (H-2K (d)-E-cad), that the tumor cell embolus (IBC spheroid) forms on the basis of an intact and overexpressed E-cadherin/alpha, beta-catenin axis which mediates tumor cell-tumor cell adhesion analogous to the embryonic blastocyst and accounts for the compactness of the embolus.

E-cadherin

scid


Input: In accord with the array data, silencing of SS18-SSX1 enhances adhesion to the extracellular matrix through the induction of expression of myosin light-chain kinase.

adhesion


Input: Recent findings indicate an accumulation of TSC1 polymorphisms as well as loss of heterozygosity (LOH) and/or microsatellite instability (MSI) at the TSC1 locus on chromosome 9q in FCD IIb.

microsatellite instability


Input: To test this hypothesis, we investigated the interaction between tagging polymorphisms in the UCP2 gene (rs2306819, rs599277 and rs659366), alcohol intake and obesity traits such as BMI and waist circumference (WC) on alanine aminotransferase (ALT) and gamma glutamyl transferase (GGT) in a large meta-analysis of data sets from three populations (n = 20 242).

alanine aminotransferase

alcohol intake


Input: MMR deficiencies were detected in 119 of the 1222 CRC patients with tumors showing either microsatellite instability (n = 111) or loss of protein expression (n = 81).

MMR

microsatellite instability


Input: Through the decrease of HGMB1 and the regulation of RAGE, PA reversed the EMT, inhibited HLF-1 proliferation as well as reduced apoptosis in AT I, and prevented pulmonary fibrosis in vivo.

HLF

pulmonary fibrosis


Input: Ligation of CD40 on atheroma-associated cells in vitro activates the production of chemokines, cytokines, matrix metalloproteinases, adhesion molecules and tissue factor, substances responsible for lesion progression and plaque destabilization.

atheroma


Input: This study is the first intense characterization of pre-miR-886 as well as the initial report on its function as a PKR regulator, which suggests a critical role in tumorigenesis.

tumorigenesis


Input: In order to precisely localize the susceptible locus for cardiac sarcoidosis within the HLA region, genetic polymorphisms of classical HLA genes, non-classical HLA class II genes such as HLA-DMA and-DMB genes and several genes involved in the class I-mediated antigen presentation pathway (TAP1, TAP2, LMP2 and LMP7) were investigated.

cardiac sarcoidosis


Input: Paclitaxel induces multiple arms of the endoplasmic reticulum stress response, including upregulation of the 78-kDa glucose-regulatory protein (GRP78) and eukaryotic initiation factor alpha phosphorylation.

arms


Input: First, we determined the basal expression levels of Bcl-2 and Bcl-xL in mesothelioma cells and examined the effect of their downregulation by antisense oligonucleotides.

Bcl-xL

mesothelioma


Input: Moreover, the review describes different ataxic spontaneous cacna1a mouse mutants and the important insights into the cerebellar mechanisms underlying motor dysfunction caused by mutant CaV2. 1 channels that were obtained from their functional characterization.

CaV2. 1

motor dysfunction


Input: No significant association of iNOS genotypes with stenosis and atherosclerosis of RCA and LCX was found.

LCX

atherosclerosis


Input: Much of this can be attributed to the apparent similarities in the molecular processes regulating embryonic EMT that can be recapitulated during tumor progression and metastasis.

EMT

tumor progression


Input: Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.

MMD

MMD


Input: The chromosomal translocation t (14; 18) in lymphoma leads to an overproduction of the Bcl-2 protein on the basis of increased Bcl-2 mRNA levels.

chromosomal translocation


Input: These results suggested that activated Ki-Ras will be one of the factors contributing to the overexpression of epiregulin in human colon cancer cells, and that epiregulin will play a critical role in human tumorigenesis in vivo.

epiregulin

tumorigenesis


Input: Therefore, we utilized immunohistochemistry and FISH to study INI1 expression and 22q dosages, respectively, in 40 composite rhabdoid tumors, including 16 meningiomas, 15 carcinomas, three melanomas, two sarcomas, two glioblastomas, and 1 neuroblastoma.

FISH

neuroblastoma


Input: We carried out a large scale case-control study to test the association between FGFR2 and three major psychiatric disorders: SCZ, BPD and major depressive disorder (MDD) in the Chinese Han population.

SCZ

SCZ


Input: In the unaffected individuals (patients' relatives and healthy controls) we observed an association of KIBRA with immediate and delayed logical memory (p = 0. 020 and 0. 025, respectively), while in patients with psychosis with delayed visual memory (p = 0. 05).

KIBRA

psychosis

KIBRA

psychosis


Input: Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children.

GACI

GACI


Input: Enhanced RASSF4 expression promoted cell cycle progression, senescence evasion, and tumorigenesis through inhibition of the Hippo pathway tumor suppressor MST1.

tumorigenesis


Input: They are characterized by high histological grade (87%), no definite expression of BCL2 or CD10 and several kinds of gene aberrances including Bcl2 translocation, Bcl6 translocation, Bcl2 amplification or other unknown gene abnormality.

translocation


Input: Our data support the notion that CCR3, CCR7, and CXCR4 are increasingly expressed in tumor cells from PTC and that CXCR4 expression in PTC could be a potential marker for enhanced tumor aggressiveness.

aggressiveness


Input: Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p = 0. 0143) and growth retardation (p = 0. 0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation.

growth retardation


Input: The parents (both of Irish background) were heterozygotes for the G307S allele, while an asymptomatic sibling had normal CBS sequence, Plasma homocysteine, assessed after an oral methionine load, indicated the mother clearly had moderate hyperhomocysteinaemia, whereas the father had normal concentrations of homocysteine.

CBS

asymptomatic


Input: The carriers of XLRP who had evidence of photoreceptor cell dysfunction (as determined by visual field loss and reduced ERG amplitudes) had increased levels of intraocular straylight, whereas the carriers of CHM, who showed fundus abnormalities alone, in the absence of demonstrable photoreceptor cell dysfunction, had normal or minimally elevated levels.

ERG

abnormalities


Input: The present study was undertaken to analyze the relation between microsatellite instability (MSI) and germline mutations of MMR genes.

MMR

microsatellite instability


Input: The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency.

dolichol kinase

DK1) deficiency

dolichol kinase

DK1) deficiency


Input: In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene.

DBA

DBA


Input: The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome.

PDS

Pendred syndrome

PDS

Pendred syndrome


Input: Two models of diabetic complications were used to determine the role of PARP in oxidative stress, cardiac hypertrophy and fibrosis in the heart.

PARP

diabetic complications


Input: Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes.

autosomal recessive polycystic kidney disease

autosomal recessive polycystic kidney disease


Input: Pretreatment with polymyxin B prevented against acute pancreatitis-induced lung injury and the otherwise occurring increases in TNF-alpha, IL-1beta, MCP-1 and IL-10, as well as against the decreases in IL-2, IFNgamma and TIMP-1, decreased protease activity and down-regulation of CD31, CD54 and CD62L on recruited neutrophils and macrophages in BALF.

acute pancreatitis


Input: Expression of TNF-α, NGF, substance P-immunoreactive nerves and tachykinin NK1 receptors was enhanced, peaking at 28 h, 7 days, 14 days and 14 days after LPS inhalation, respectively.

TNF-α

inhalation


Input: The identification of extracellular matrix (ECM) proteins, cell-surface receptors, cell-surface adhesion molecules and growth factors among substrates, clearly support the driving role of KLK abnormal expression and function during tumorigenesis and cancer progression.

ECM

tumorigenesis


Input: Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE.

LPL

cardiovascular disease


Input: Moreover, chromatin immunoprecipitation assays demonstrated an increased association of β-catenin with the proximal promoter of microphthalmia-associated transcription factor, the master regulator of pigmentation.

β-catenin

pigmentation


Input: Moreover, the D22S258, CRYBA4, D22S300, D22S1, and D22S310 loci, which lie between CRYBB2 and D22S42, were found to be deleted, presumably as a result of the translocation event.

translocation


Input: Thus, the p27CK-mouse unveils a dual role for p27 during tumorigenesis: It is a tumor suppressor by virtue of its cyclin-CDK regulatory function, and also an oncogene through a cyclin-CDK-independent function.

tumorigenesis


Input: In summary, these results demonstrate that biallelic SUN5 mutations cause male infertility due to autosomal-recessive acephalic spermatozoa syndrome.

acephalic spermatozoa syndrome

acephalic spermatozoa syndrome


Input: Therefore, DNA from nodular and quiescent surrounding tissue of six patients with toxic multinodular goiters was screened for mutations in exons 9 and 10 of the TSHR gene and exons 7-10 of the Gs alpha gene by direct automated sequencing.

alpha gene

goiters


Input: Furthermore, cartonectin showed a significant negative association with body mass index, waist to hip ratio, glucose, insulin, total cholesterol, low-density lipoprotein-cholesterol, triglycerides, High sensitivity C-reactive protein (hs-CRP) and intima-media thickness (P <. 05 and P <. 01, respectively); in multiple regression analyses, triglycerides (P =. 040) and hs-CRP (P =. 031) were predictive of cartonectin levels (P <. 05).

cartonectin

body mass index


Input: Furthermore, GLP-1-centered gene therapy not only improved insulin sensitivity, but also reduced abdominal and/or hepatic fat associated with obesity-induced T2DM with drastic alterations in adipokine profiles in treated subjects.

insulin sensitivity


Input: Similarly, intrathecal IL-1ra administered after the establishment of morphine tolerance reversed hyperalgesia and prevented the additional development of tolerance and allodynia.

hyperalgesia

hyperalgesia


Input: As a result of this translocation the SYT gene on chromosome 18 fuses to either the SSX1 or the SSX2 gene on the X chromosome.

SSX2 gene

translocation


Input: A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS.

PSIS

PSIS


Input: We also note the possibility that some human craniofacial abnormalities are due to a lack of basonuclin 2.

basonuclin 2

craniofacial abnormalities

basonuclin 2

craniofacial abnormalities


Input: By PCR, the t (14; 18) translocation was identified in five cases (15%), four of which were positive for CD10 and bcl2 and all of which were positive for bcl6.

translocation


Input: Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

ASL

Argininosuccinate lyase deficiency

ASL

Argininosuccinate lyase deficiency


Input: Finally, we demonstrate that 5-HT (2B) receptors are overexpressed in hearts from patients with congestive heart failure, this overexpression being positively correlated with cytokine and norepinephrine plasma levels.

5-HT (2B

congestive heart failure

5-HT (2B

congestive heart failure


Input: Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.

peroxisome proliferator-activated receptor gamma

acute kidney injury

peroxisome proliferator-activated receptor gamma

acute kidney injury


Input: Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines.

Translin

alveolar rhabdomyosarcoma


Input: The MUC18 mRNA and protein was expressed in three metastatic prostate cancer cell lines (TSU-PR1, DU145, and PC-3), but not in one non-metastatic prostate cancer cell line (LNCaP. FGC).

metastatic prostate cancer


Input: In strong support of the idea that Hoxa1 and Hoxb1 have overlapping functions, Hoxa1/Hoxb1 double mutant homozygotes exhibit a plethora of defects either not seen, or seen only in a very mild form, in mice mutant for only Hoxa1 or Hoxb1.

plethora


Input: Herein, we show that the miR-200ba429 and miR-200c141 transcripts undergo a dynamic epigenetic regulation linked to EMT or MET phenotypes in tumor progression.

EMT

tumor progression


Input: Importantly, EWS FISH is negative in malignant melanoma, a clinically dissimilar tumor, which may closely mimic clear cell sarcoma histologically and immunohistochemically.

FISH

clear cell sarcoma


Input: Furthermore, we identified four additional ANKS6 variants in a cohort of 56 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or unknown etiology.

interstitial nephritis


Input: Mutations of another MMR gene, MSH6, seem to be less common than MLH1 and MSH2 defects, and have been mostly observed in atypical HNPCC families, characterized by a weaker tumor family history, higher age at disease onset, and low degrees of microsatellite instability (MSI), predominantly involving mononucleotide runs.

MMR

microsatellite instability


Input: These results may indicate that IL-12 induces IFN-gamma expression and subsequent Th1 dominant condition in Japanese patients with sarcoidosis.

sarcoidosis


Input: The role of ANXA2 in various liver diseases including HCC remains obscure.

HCC

liver diseases


Input: Retinol/ethanol drug interaction during acute alcohol intoxication in mice involves inhibition of retinol metabolism to retinoic acid by alcohol dehydrogenase.

alcohol dehydrogenase

acute alcohol intoxication

alcohol dehydrogenase

acute alcohol intoxication


Input: Isolated BMACs from TSP-1-knockout mice demonstrated improved tube formation, migration, and adhesion in parallel with active SHH signaling.

adhesion


Input: We analyzed the genetic polymorphism of the immunoproteasome subunits LMP2 and LMP7 and of the transporters associated with antigen processing (TAP1 and TAP2) in two independently collected panels of colorectal carcinoma patients (N (1) = 112, N (2) = 62; controls, N = 165).

colorectal carcinoma


Input: CSE activity and protein levels in the colonic tissue did not notably change in the mice with colitis.

CSE

colitis


Input: Mutations in the gene encoding the fused in sarcoma (FUS) protein are responsible for ~ 3% of familial amyotrophic lateral sclerosis (ALS) and < 1% of sporadic ALS (ALS-FUS).

FUS

sporadic


Input: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

carnitine deficiency

carnitine deficiency


Input: In vitro and in vivo gain-of-function and loss-of-function experiments indicate that SChLAP1 is critical for cancer cell invasiveness and metastasis.

metastasis

metastasis


Input: Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.

asymptomatic


Input: The NciI genotypes were not significantly associated with age of the individuals, serum (s)-calcium, s-parathyroid hormone (PTH), bone mineral density (BMD) or parathyroid tumour weight in any of the groups of pHPT patients or controls.

PTH

bone mineral density


Input: Activation of EP1 receptors appears to be upstream, rather than downstream, of NMDA receptor activation and NO production in the PGE2-induced allodynia.

allodynia

allodynia


Input: The prevalence rates of the platelet glycoprotein IIb/IIIa Leu33Pro allele (PLA2), and factor V G1691A Leiden mutation were determined in 109 appropriate for gestational age neonates with grade I intraventricular haemorrhage (IVH) and in 118 IVH-free control infants.

platelet glycoprotein IIb

haemorrhage


Input: Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter-2 (hRFT-2) and suggested their link to the manifestation of BVVLS.

BVVLS

BVVLS


Input: Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.


Input: In cell culture, d12. CALP at low multiplicity of infection (0. 001 plaque-forming unit/cell) selectively killed calponin-positive human synovial sarcoma, leiomyosarcoma, and osteosarcoma cells.

CALP

plaque


Input: Thus, imatinib may be very effective for treating the early cardiac involvement of FIP1L1-PDGFRA-positive CEL, but it needs to be used cautiously.

PDGFRA

CEL

PDGFRA

CEL


Input: We therefore analyzed a sample of 146 ADHD children and their parents, with a transmission disequilibrium test (TDT) design, assessing age, inattention, and hyperactivity dimensions and total score of the ADHD Rating Scale, the number of errors and the total score at Stroop Color-Word test, and the total score at the Trail Making Test.

TDT

inattention


Input: These results suggest that local hypoxia could indirectly influence osteoclastogenesis via autocrine and paracrine secretion of VEGF under the control of HIF.

VEGF

hypoxia


Input: To investigate the molecular mechanisms of transcriptional activation by hypoxia (1% oxygen), fine mapping of a hypoxia-responsive region of the human VEGF promoter was carried out using luciferase reporter-gene constructs in C6 glioma cells.

VEGF

hypoxia


Input: Our findings indicate that SPOP plays critical roles in suppressing gastric tumorigenesis through inhibiting Hh/Gli2 signaling pathway.

tumorigenesis


Input: Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.

PTH

bone mineral density


Input: Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis.

adenylate kinase 2

reticular dysgenesis

adenylate kinase 2

reticular dysgenesis


Input: Regulated, adenovirus-mediated delivery of tyrosine hydroxylase suppresses growth of estrogen-induced pituitary prolactinomas.

tyrosine hydroxylase

adenovirus


Input: These data demonstrate that the hyperemia caused by isoflurane resolves over time during stable 1 MAC isoflurane anesthesia.

MAC

hyperemia


Input: Mice harboring compound disruptions in the NPAS3 and related NPAS1 genes manifest behavioral and neuroanatomical abnormalities reminiscent of schizophrenia.

schizophrenia

schizophrenia


Input: The differential diagnosis includes Alexander' s disease, Canavan' s disease, glutaric aciduria type 1, GM1 and GM2 gangliosidosis, merosin-deficient variant of congenital muscular dystrophy and megalencephalic leukoencephalopathy with subcortical cysts (MLC).

congenital muscular dystrophy

megalencephalic leukoencephalopathy with subcortical cysts


Input: This article investigated the expression of TF and PAR-2 in ectopic and eutopic endometrium with endometriosis and their relationship with the menstrual cycle.

PAR

endometriosis


Input: To examine the role of the polymorphisms in the AR and PSA genes in prostate cancer susceptibility, we conducted a case-control study of Austrian Caucasians with 190 newly diagnosed prostate cancer patients and 190 age-matched control men with benign prostatic hyperplasia (BPH).

PSA

prostate cancer susceptibility


Input: The present study indicates that miR-885-5p suppresses the metastasis of HCC and inhibits Wnt/& #946;-catenin signaling pathway by its CTNNB1 target, which suggests that miR-885-5p to be a promising negative regulator of HCC progression and as a novel therapeutic agent to treat HCC.

HCC

HCC


Input: Identification of rare LGI1 gene mutations in sporadic cases supports diagnosis as ADTLE and draws attention to potential familial clustering of ADTLE in suggestive generations, which is especially important for genetic counselling.

LGI1 gene

sporadic


Input: Impaired acrosomal reaction (IAR) of sperm causes male subfertility in humans and animals.

IAR

male subfertility


Input: However, it was found that there was an association between the mbl2 AO/OO genotype and severe hepatitis B (SHB) or liver cirrhosis (LC) (LC vs. HC: OR = 3. 66, 95% CI, 2. 38-5. 63; SHB vs. HC, OR = 3. 88, 95% CI, 2. 26-6. 64), but there was no relationship between the mbl2 AO/OO genotype and hepatocellular carcinoma (HCC) (OR = 1. 26, 95% CI, 0. 82-1. 94).

SHB

liver cirrhosis


Input: Deposition of ECM was affected in heterozygous LH3 knock-out mouse embryonic fibroblasts (MEF (+/-)) and in skin fibroblasts collected from a member of a Finnish epidermolysis bullosa simplex (EBS) family known to be deficient in GGT activity.

GGT

epidermolysis bullosa simplex


Input: Liver biopsy specimens were collected from 71 patients with different outcomes of HBV infection, including 25 cases of chronic hepatitis B (CHB), 18 cases of severe hepatitis B (SHB), and 28 cases of liver cirrhosis (LC).

SHB

liver cirrhosis


Input: The KCTD12 gene has been associated with bipolar disorder, major depressive disorder and schizophrenia.

schizophrenia

schizophrenia


Input: Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice.

tumorigenesis


Input: Methylprednisolone treatment significantly increased RGC apoptosis during MOG-EAE.

MOG

EAE

MOG

EAE


Input: We also investigated the effect of IL-17 on myocardial fibrosis in this model.

myocardial fibrosis


Input: Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

type 2 diabetes

type 2 diabetes


Input: Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease.

Wilson disease

Wilson disease


Input: Mapping of translocation breakpoints using an acetylated histone H3 lysine 9 chromatin immunoprecipitation sequencing approach reveals Igh fusions up to ∼ 350 kb upstream of Myc or the related oncogene Mycn.

oncogene Mycn

translocation


Input: Studies using in vitro ischaemia-related models (hypoxia, glutamate) have produced conflicting results, with some showing that NCX activity is neuroprotective while others indicate that it is neurodamaging.

NCX

hypoxia


Input: We tested whether PON1 gene transfer using adenovirus provides protection against the toxicity of the OP diazoxon.

PON1 gene

adenovirus


Input: We aim to ask if this is true for all SH-HCC cases, or does the SH-HCC morphology in some cases reflect genetic changes inherent to the HCC itself, as opposed to wide tissue response in liver to the metabolic syndrome.

HCC

metabolic syndrome


Input: Syncytin-1, Syncytin-2 and erv-3 were specific to glandular epithelial cells of polyps, hyperplasia and EnCa using immunohistochemistry.

hyperplasia


Input: Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis.

LED

arthrogryposis


Input: Expression of epidermal growth factor in transgenic mice causes growth retardation.

epidermal growth factor

growth retardation


Input: Sixty-two colorectal polyps--37 adenomatous polyps, 23 hyperplastic polyps, and 2 sessile serrated polyps (SSP)--from 34 subjects with germline MMR gene mutations were tested for MSI using a single pentaplex PCR for five mononucleotide repeat microsatellite markers, and also for expression of MLH1, MSH2, MSH6, and PMS2 proteins by immunohistochemistry.

adenomatous polyps


Input: The results demonstrated that TGF-β1 increased the formation of autophagic vacuoles, LC3 expression, and phosphorylation of PI3K, Akt and mTOR in scrambled siRNA transfected HK2 cells compared to control cells, which was reversed in KCa3. 1 siRNA transfected HK2 cells.

autophagic vacuoles


Input: The hypoxia-inducible endothelial cell-specific mitogen vascular endothelial growth factor/vascular permeability factor (VEGF/VPF) is expressed in low amounts in adult human brain, but is highly upregulated in the perinecrotic palisading cells of glioblastomas.

VPF

hypoxia


Input: Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first " schizophrenic " episode of psychosis.

psychosis

psychosis


Input: Research on the LKB1 tumor suppressor protein mutated in cancer-prone Peutz-Jeghers patients has continued at a feverish pace following exciting developments linking energy metabolism and cancer development.

feverish


Input: To identify the possible mutations and/or polymorphisms of neuronal nicotinic acetylcholine receptor (nAChR) genes related to the pathogenesis of sporadic AD, we have performed mutational analyses of the major neuronal nAChR genes (CHRNA3, 4, 7 and CHRNB2) expressed in central nervous system.

sporadic


Input: Patients with HOX11-high expression and those with SIL-TAL fusion had low levels of residual disease at the end of induction and a favorable prognosis: the 3-year EFS rate was 83. 3% (+/-8. 5%) and 75. 3% (+/-12. 6%), respectively.

residual disease


Input: In this report, we describe a case of phyllodes tumor of the prostate with a high value of prostate-specific antigen (PSA).

prostate-specific antigen

phyllodes tumor of the prostate

prostate-specific antigen

phyllodes tumor of the prostate


Input: Breast cancer antigens RAK-p120,-p42,-p25 were detected in 100% of breast cancer cases tested (71 cases).

breast cancer


Input: Interaction analyses were significant for heavy alcohol intake and PON1 genotype (p =. 02) in black men, with a suggested interaction for heavy alcohol intake and CETP genotype (p =. 06) in black men.

CETP

alcohol intake


Input: A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

Dorfman-Chanarin syndrome

Dorfman-Chanarin syndrome


Input: The marginal means of PTH, adjusted with the general factorial analysis of variance across the three groups were: (a) mild CRF group, BB 5. 3 pmol/liter (CI 0 to 13. 8), Bb 5. 5 pmol/liter (CI 2 to 9), bb 5. 4 pmol/liter (CI 0. 6 to 10. 2); (b) moderate CRF group, BB 6. 2 pmol/liter (CI 1. 5 to 10. 9), Bb 7. 8 pmol/liter (CI 5. 3 to 10. 3), bb 7. 5 pmol/liter (CI 4. 8 to 10. 1); (c) severe CRF group, BB 9. 3 pmol/liter (CI 4. 2 to 14. 3), Bb 17. 1 pmol/liter (CI 13. 9 to 20. 2), bb 21. 9 pmol/liter (CI 18. 7 to 25. 2).

PTH

mild


Input: The mainly neuronally expressed protein p42 (IP4) (centaurin α1; ADAP1), which interacts with the metalloendopeptidase nardilysin (NRD) was found to be localized in neuritic plaques in Alzheimer disease (AD) brains.

neuritic plaques


Input: Significant interactions were observed between pack-years of smoking and the combined GSTM3 AA and GSTP1 (AG or GG) genotype, or the combined GSTM3 AA, GSTP1 (AG or GG) and GSTM1 null genotype.

smoking


Input: However, withdrawal of estrogen from the tumors resulted in increased VEGF and elevated vascular permeability, presumably due to hypoxic conditions that were found to dominate VEGF overexpression in cultured cells.

VEGF

hypoxic


Input: These results establish this TT & gt; A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.

SLE

SLE


Input: Genetic risk factors examined included APOE, ACE, OLR1, and CYP46 genes, and environmental factors included smoking, total cholesterol, LDL, HDL, triglycerides, C-reactive protein, blood pressure, statin use, and body mass index.

smoking


Input: The most frequent LSD groups were lipidoses, mucopolysaccharidoses, and neuronal ceroid lipofuscinoses, with combined prevalences of 5. 0, 3. 72, and 2. 29 per 100, 000 live births, respectively.

LSD

mucopolysaccharidoses


Input: In patients with dilated cardiomyopathy, an increase in endomyocardial NOS2 or NOS3 gene expression augments LV stroke volume and LV stroke work because of a NO-mediated rightward shift of the diastolic LV pressure-volume relation and a concomitant increase in LV preload reserve.

dilated cardiomyopathy


Input: Breast aspiration fluid CEA concentration and the methylation of the APC gene promoter 1A and the promoter region of the cyclin D2 gene can be used as tumor markers to overcome some of the limitations of aspiration cytology.

APC gene

aspiration


Input: This translocation deregulates bcl-2 gene expression by placing it into immunoglobulin heavy chain locus (IgH).

bcl-2 gene

translocation


Input: Case-specific calculation of the RANKL/OPG ratio in advanced IMF showed a wide range without significant differences when compared with the prefibrotic IMF and non-neoplastic haematopoiesis.

RANKL

non-neoplastic


Input: To investigate the roles of NDRG2 in tumorigenesis, we used in vitro cell culture system.

tumorigenesis


Input: The FAAH inhibitor, URB597, reduced cocaine-induced seizures and epileptiform electroencephalographic activity.

FAAH

seizures

FAAH

seizures


Input: This is the first report of an IGH-MALT1 translocation in DLBCL.

translocation


Input: Importantly, this proliferation signature was absent from the poorly leukemogenic p50/RARA fusion model, implying a critical role for PML in the altered cell-cycle kinetics and ability to initiate leukemia.

leukemia


Input: This hypoglycemic state was neither due to impaired insulin secretion nor insulin receptor hypersensitivity.

insulin receptor

hypersensitivity


Input: We aimed to investigate whether diet interventions varying in macronutrients modified the effects of FTO genotypes on changes in insulin resistance.

FTO

insulin resistance


Input: We have studied 47 patients with AIS and have characterized the underlying molecular abnormality in the androgen receptor gene.

androgen receptor

AIS

androgen receptor

AIS


Input: This study aims to assess E2A expression in CRC tissues, evaluate its prognosis value, and investigate its role in colon cancer cell growth.

colon cancer


Input: In addition, it diminished the mRNA levels of hypoxia-inducible genes such as vascular endothelial growth factor (VEGF), smad3, aldolase A, enolase 1, and collagen type III in the PC12 cells.

VEGF

hypoxia


Input: Toxic rhinitis patients had significantly elevated expression scores for VIP (2. 83 +/-0. 31 vs 1. 27 +/-0. 47 control group) and NPY (3. 17 +/-0. 31 vs 0. 91 +/-0. 37 control group) revealing an increase of mediators in distinct subpopulations of airway nerves.

VIP

rhinitis

VIP

rhinitis


Input: We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.

skin cancer


Input: The potentiation of TRPV1 was caused by its phosphorylation of the serine residues, and translocation of protein kinase C (PKC) ε was clearly observed in the cells exposed to the hypoxic conditions in both cell types, which was inhibited by 2-methoxyestradiol, a HIF-1α inhibitor.

translocation


Input: Human PRLR and GHR transcripts were also observed throughout the cancerous progression of the colonic and gastric mucosa from adenomas to colonic liver metastasis and gastrointestinal cancer cell lines at various stages of growth and differentiation.

PRLR

gastrointestinal cancer


Input: 14 patients with EE were investigated for mutations in the ETHE1 gene.

EE

EE


Input: We also looked at the expression of thymic stromal lymphopoietin (TSLP) in giant papillae of patients with vernal keratoconjunctivitis and examined whether the as Toll-like receptor 3 ligand polyinosinic: polycytidylic acid (poly I: C) can induce expression of TSLP in cultured human conjunctival epithelial cells.

TSLP

giant


Input: Polymorphisms in 3' untranslated region (UTR) of cancer-related genes might affect their regulation by microRNAs (miRNAs) and thereby contribute to carcinogenesis.

UTR

carcinogenesis


Input: To support Losmapimod, a p38 mitogen-activated protein kinase inhibitor in development for acute coronary syndrome, we characterized gene variation in MAPK11/14 genes by exome sequencing and follow-up genotyping or imputation in participants well-phenotyped for cardiovascular and metabolic traits.

acute coronary syndrome


Input: The UPAR gene encodes a pleiotropic receptor (urokinase-type plasminogen activator receptor [uPAR]) involved in fibrosis, immunity, angiogenesis, and vascular remodeling.

UPAR

fibrosis


Input: Findings in Phox2b (27Ala/+) knock-in mice consisted of unstable breathing with apneas, absence of the ventilatory response to hypercapnia, death within a few hours after birth, and absence of the retrotrapezoid nucleus (RTN).

breathing


Input: Association between the aldehyde dehydrogenase 2 * 2 allele and smoking-related chronic airway obstruction in a Japanese general population: a pilot study.

aldehyde dehydrogenase 2

smoking


Input: We describe the clinical history of an Italian child presenting progressive spastic paraparesis, carrying a new homozygous missense mutation in the ARG1 gene.

ARG1 gene

progressive spastic paraparesis


Input: Accumulating evidences demonstrated that the induction of epithelial-mesenchymal transition (EMT) and aberrant expression of microRNAs (miRNAs) are associated with tumorigenesis, tumor progression, metastasis and relapse in cancers, including chronic myeloid leukemia (CML).

EMT

tumor progression


Input: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.

tyrosinase

tyrosinase related oculocutaneous albinism

tyrosinase

tyrosinase related oculocutaneous albinism


Input: Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.

dry skin


Input: Moreover, we found that overexpressed RIOK2 formed a complex with RIOK1, mTor, and mTor-complex-2 components, and that overexpressed RIOK2 upregulated Akt signaling and promoted tumorigenesis in murine astrocytes.

tumorigenesis


Input: Downregulation of RUNX3 and TES by hypermethylation in glioblastoma.

TES

glioblastoma

TES

glioblastoma


Input: Using immunohistochemistry, we studied the overexpression of MDM2, p53, and NCAM proteins in human radiation-induced skin ulcers.

skin ulcers


Input: The mean body mass index of the patients (23. 9 +/-4. 2 kg/m (2) in males and 26. 3 +/-6. 6 kg/m (2) in females) did not differ significantly from that of gender-, age-, and treatment-matched KS individuals who did not carry a mutation in PROK2 or PROKR2.

body mass index


Input: A representative anti-Nectin-2 mAb in epitope bin VII, Y-443, showed anti-tumor effects against OV-90 cells and MDA-MB-231 breast cancer cells in mouse therapeutic models, and its main mechanism of action appeared to be ADCC.

breast cancer

breast cancer


Input: The mRNA and protein level of VEGF-A in MBT-2 cells increased by 70% at 48 hours interval under hypoxia stress condition.

VEGF-A

hypoxia


Input: The mice having nonhematopoietic Pin1 exhibited fat accumulation without liver fibrosis on the MCD diet.

liver fibrosis


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

CCNH

breast cancer

CCNH

breast cancer


Input: Targeting homeostatic mechanisms of endoplasmic reticulum stress to increase susceptibility of cancer cells to fenretinide-induced apoptosis: the role of stress proteins ERdj5 and ERp57.

cancer

cancer


Input: TLS is a novel nuclear RNA-binding protein with extensive sequence similarity to EWS, the product of a gene commonly translocated in Ewing' s sarcoma.

RNA-binding protein

sarcoma


Input: Sera of patients with acute hepatitis non-A, non-B prospectively followed for a mean of 11. 4 years (range 9 to 15 years) were assayed for anti-hepatitis C virus (HCV) by first-and second-generation enzyme-linked immunosorbent assay (ELISA) and second-generation recombinant immunoblot assay (RIBA) to study the patterns of antibody response in relation to the outcome of disease.

RIBA

acute hepatitis


Input: Steady-state expression of Na (+)-K + ATPase alpha-1 and-2, phospholamban (PLB), alpha-myosin heavy chain (alpha-MHC), ryanodine receptor (Rya) and Ca2 + ATPase (Serca2) mRNAs were decreased in the infarct scar vs noninfarcted sham-operated controls (P < 0. 05).

scar


Input: The frequencies of IL-2, IFN-gamma, IL-4 and IL-10 gene expression were also determined in peripheral blood mononuclear cells from patients with colorectal adenocarcinoma and compared to those of healthy individuals.

colorectal adenocarcinoma


Input: Of the 9 lesions of the hands and feet, 8 (89%) showed USP6 gene rearrangements, whereas no abnormalities were identified in the 8 gnathic GCRGs, 2 brown tumors, or 8 giant cell tumors of bone.

USP6 gene

abnormalities


Input: We examined whether alleles of TNF gene (lymphotoxin-alpha + 250, TNF-alpha-308, and TNF-alpha-238) affect tracheal aspirate fluid (TAF) levels of TNF-alpha among preterm infants at risk of bronchopulmonary dysplasia.

lymphotoxin-alpha

bronchopulmonary dysplasia


Input: The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia.

stem cell factor

leukemia


Input: Here, we report that GRK3-/-mice exhibit numerous features of human WHIM, such as impaired CXCL12-mediated desensitization, enhanced CXCR4 signaling to ERK activation, altered granulocyte migration, and a mild myelokathexis.

mild


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

DGSI

schizophrenia

DGSI

schizophrenia


Input: The statistical association and the functional evidence suggest that mutations of the GABRG2 gene may increase the risk of RE/ARE.

RE

RE


Input: In the present study, the effects of acidification on the expression of connective tissue growth factor (CTGF), a critical factor involved in the formation of extracellular matrix proteins and hence airway remodeling, were examined in human airway smooth muscle cells (ASMCs).

CTGF

airway remodeling


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

heavy drinking

heavy drinking


Input: In multiple linear regression, significant determinants of greater CDR were increasing age, male sex, higher intraocular pressure (IOP), lower diastolic blood pressure, lower body mass index, and previous cataract surgery.

CDR

body mass index


Input: The BPTF variants were found in unrelated individuals aged between 2. 1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10).

BPTF

intellectual disability

BPTF

intellectual disability


Input: In the patients who initially were free of nephropathy, baseline plasma ACE concentration was higher in patients who progressed to microalbuminuria (571 +/-231 versus 466 +/-181 microg/L; P = 0. 0032); the D allele independently favored the occurrence of incipient nephropathy (adjusted hazard ratio, 4. 5; 95% confidence interval, 1. 1 to 19. 4); other contributors were male gender, baseline systolic BP, and urinary albumin excretion.

ACE

microalbuminuria


Input: Expansions of a polyalanine (polyA) stretch in the coding region of the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by the absence of adequate control of autonomic breathing.

PHOX2B gene

breathing


Input: We sought to identify new fusion genes with involvement of the platelet-derived growth factor receptor beta gene (PDGFRB) in three patients presenting with various subtypes of chronic myeloproliferative disorders associated with chromosomal aberrations involving chromosome bands 5q31-33.

PDGFRB

chromosomal aberrations


Input: 2-amino-4-phosphonobutyric acid (APB), which selectively blocks light responses of on-pathway depolarizing bipolar cells, fully recreated the essential ERG abnormalities found for human CSNB1 under the condition that the off-pathway remained active.

ERG

abnormalities


Input: Cholesteryl ester transfer protein (CETP) genotype and reduced CETP levels associated with decreased prevalence of hypertension.

Cholesteryl ester transfer protein

hypertension

Cholesteryl ester transfer protein

hypertension


Input: PIM has been suggested to be a subset of condyloma associated with low-risk type human papilloma virus (HPV), however, the etiologic role of HPV and biologic behavior of the disease are still elusive.

PIM

condyloma


Input: The methylation of 9 sites (GDNF, CDH1, RARAB2, CDH13, MYOD1, SFRP1, SLC16A12, DPYS, N33, and LINE1) and their mean Z score was correlated with higher age (R = 0. 41, P < 0. 0001) and marginally with telomere shortening (R =-0. 18, P = 0. 01) but not with gastric cancer risk (other than SFRP1 methylation).

DPYS

gastric cancer


Input: The ovarian phenotype observed in mice devoid of rip140 closely resembles the luteinized unruptured follicle (LUF) syndrome that is observed in a high proportion of women affected of endometriosis or idiopathic infertility.

infertility


Input: In response to IR, autophosphorylation on serine 1981 causes dissociation of ATM dimers and initiates cellular ATM kinase activity.

ATM

dissociation


Input: Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome.

Scott syndrome

Scott syndrome


Input: These novel data support the notion that resveratrol may be a potential therapeutic agent in pulmonary hypertension by preventing PASMC arginase II induction and proliferation.

arginase II

pulmonary hypertension

arginase II

pulmonary hypertension


Input: Our results suggested that pravastatin' s aortic atherosclerosis preventing action via attenuation of IL-6 action may partially depend on modulation of STAT3 activity.

atherosclerosis

atherosclerosis


Input: We have investigated the presence of TTV DNA in lymph node biopsies of Italian patients affected with the most common lymphoma types in Western Countries: follicular lymphoma (FL), diffuse large B-cell lymphoma (DLBCL) and nodular sclerosis Hodgkin' s disease (NS-HD).

TTV

follicular lymphoma


Input: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

acetoacetyl-coenzyme A thiolase

3-ketothiolase deficiency

acetoacetyl-coenzyme A thiolase

3-ketothiolase deficiency


Input: Matrix metalloproteinase (MMP) 9 plays an important role in the degradation of the extracellular matrix in fetal membranes, and pathological activation of MMP-9 can lead to preterm birth.

preterm birth

preterm birth


Input: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene.

MAPT

Frontotemporal dementia with parkinsonism

MAPT

Frontotemporal dementia with parkinsonism


Input: Fasting plasma glucose, postprandial plasma glucose, glycated haemoglobin, fasting and postprandial serum insulin (FINS, PINS), homeostasis model assessment for insulin resistance, serum triglyceride, total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol were determined before and after repaglinide treatment.

PINS

insulin resistance


Input: After digoxin pretreatment, 7 of 17 eNOS-deficient mice had inducible ventricular tachycardia and 2 others had frequent ventricular premature beats, compared with only 3 of 11 wild-type mice with inducible ventricular tachycardia.

eNOS

ventricular premature beats

eNOS

ventricular premature beats


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

breast tumors

breast tumors


Input: Chronic heroin and cocaine abuse is associated with decreased serum concentrations of the nerve growth factor and brain-derived neurotrophic factor.

nerve growth factor

cocaine abuse

nerve growth factor

cocaine abuse


Input: Clinical manifestations of CHP cases (n = 38) were fever (100%), convulsion (76. 3%), altered sensorium (34. 2%), headache (23. 7%), vomiting (44. 7%) and diarrhoea (23. 7%).

CHP

diarrhoea


Input: Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.

SFT

SFT


Input: Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

HFE

hemochromatosis

HFE

hemochromatosis


Input: SIRT1-mediated activation of FGF21 prevents liver steatosis caused by fasting.

liver steatosis

liver steatosis


Input: MTSS1 levels are inversely correlated with the growth, invasion, adhesion and migration of kidney cancer cells in vitro.

adhesion


Input: Fv2 (r) B6 mice lacking CD4 (+) T cells developed early polycythemia and fatal erythroleukemia, while B6 mice lacking CD8 (+) T cells remained resistant.

erythroleukemia


Input: CDSP is caused by recessive mutations in the SLC22A5 gene.

CDSP

CDSP


Input: The aim of our study is to analyze the ACE gene I/D polymorphisms in patients with insulin resistance (IR) and to evaluate its relationship to left ventricular mass and functions.

ACE gene

left ventricular mass


Input: Mutations in transmembrane activator and calcium-modulating cyclophilin ligand (TACI), are found in 8-10%, associated with autoimmunity and splenomegaly.

calcium-modulating cyclophilin ligand

splenomegaly


Input: The role of activity-dependent neuroprotective protein in a mouse model of fetal alcohol syndrome.

activity-dependent neuroprotective protein

fetal alcohol syndrome

activity-dependent neuroprotective protein

fetal alcohol syndrome


Input: The putative oncogene bcl-2 is juxtaposed to the immunoglobulin heavy chain (Igh) locus by the t (14; 18) chromosomal translocation typical of human follicular B-cell lymphomas.

chromosomal translocation


Input: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

hereditary multiple exostoses

hereditary multiple exostoses


Input: The aim of the present study was to examine the expression and significance of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (Pin1), β‑catenin and cyclin D1 in hepatocellular carcinoma (HCC).

hepatocellular carcinoma


Input: When stratified by microsatellite stability status, however, the MLH1-93A allele was associated with a more than doubling in microsatellite instability (MSI)-positive colon cancer risk (AA vs GG, OR 2. 47; 95% CI 1. 48 to 4. 11); no associations were observed between the MMR polymorphisms examined and MSI-negative colon cancer.

MMR

microsatellite instability


Input: Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia.

snapin

schizophrenia


Input: Neither radon nor passive-smoking exposure was consistently associated with EGFR mutations in lung tumors.

EGFR

smoking


Input: To characterize AIS and, in particular, determine how AIS might be related to smoking, we collected a large number of AIS cases and examined clinicopathologic features, EGFR and KRAS mutation status, and activation status of receptor tyrosine kinase downstream signal pathways, including pAkt, pERK, and pStat3, using immunohistochemistry.

EGFR

smoking


Input: Mutations causing autosomal dominant monilethrix have been found in the helix initiation and helix termination motifs of the type II hair keratins KRT81, KRT83 and KRT86.

monilethrix

monilethrix


Input: P70S6K1 rescues miR-145-suppressed HIF-1 and VEGF levels, tumorigenesis and tumor angiogenesis.

tumorigenesis


Input: A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: Blood glucose (BG), plasma insulin and insulin sensitivity of rats were determined at end of the 4 (th) and 8 (th) wk, and after treatment with different amounts of MFN2 expressing adenovirus (10 (8), 10 (9) or 10 (10) vp/kg body weight).

adenovirus


Input: Overexpression of miR‑200b significantly suppressed cell proliferation, migration, invasion and EMT in glioma U251 and U87 cells.

glioma


Input: We conclude that, although alcoholism is a factor in the development of osteopenia, in males the ABO blood group status plays a significant role in the maximal mineralization of the skeleton and the amount of bone resorption during ageing, independent of alcohol abuse.

ABO

alcohol abuse

ABO

alcohol abuse


Input: Here we review this topic and illustrate major features by presenting multimodal management of a patient with BRAF-positive disseminated follicular thyroid cancer arising in an ovarian teratoma.

BRAF

ovarian teratoma


Input: The number of extrapulmonary metastases was significantly higher in the high-SPP1-expressing patients than in the low-expressing patients (P = 0. 03).

metastases


Input: The UCN immunoscore was high in all 9 normal gastric mucosa specimens, significantly lower in poorly differentiated gastric adenocarcinoma than in well and moderately differentiated tumors (P = 0. 018), and significantly lower in more advanced pathologic stages of gastric adenocarcinomas than in the early stages of these tumors.

UCN

gastric adenocarcinoma


Input: Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS.

polydactyly

polydactyly


Input: We confirmed in a large cohort of ante/neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.

CLCNKB

hyperkalaemia