Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. - Wikidata - awgldk - TriplyDB

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

http://www.wikidata.org/entity/Q34191705

about

Progressive familial intrahepatic cholestasis The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine Tricellulin is a tight-junction protein necessary for hearing.Bile acid transporters in health and disease Bile acid transporters Genome-wide association meta-analysis for total serum bilirubin levels Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism Peroxisomes in brain development and function Bile duct epithelial tight junctions and barrier function Bile acid metabolism and signaling The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases Farnesoid X receptor regulates bile acid-amino acid conjugation Physiology and function of the tight junction.Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.Time-resolved luminescence resonance energy transfer imaging of protein-protein interactions in living cells.Mutations in TJP2 cause progressive cholestatic liver disease.Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Mapping of QTL affecting incidence of blood and meat inclusions in egg layers.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism Clinical challenge in hepatology A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.Treatment of bile acid amidation defects with glycocholic acid.Not all (bile acids) who wander are lost: the first report of a patient with an isolated NTCP defect CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss Genetics of familial intrahepatic cholestasis syndromes.Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.Genetic cholestasis, causes and consequences for hepatobiliary transport.Transcription of the Human Microsomal Epoxide Hydrolase Gene (EPHX1) Is Regulated by PARP-1 and Histone H1.2. Association with Sodium-Dependent Bile Acid Transport.Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.Structural and functional hepatocyte polarity and liver disease.Sex-Dependent Claudin-1 Expression in the Liver of Euthyroid and Hypothyroid Mice.Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 The tight junction protein complex undergoes rapid and continuous molecular remodeling at steady state.Junctional proteins of the blood-brain barrier: New insights into function and dysfunction.ZO-2 silencing induces renal hypertrophy through a cell cycle mechanism and the activation of YAP and the mTOR pathway

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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

http://www.wikidata.org/entity/Q34191705

description

2003 nî lūn-bûn

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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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Nature Genetics

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Complex inheritance of familia ...... ed mutations in TJP2 and BAAT.

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A K Batta

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A S Knisely

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Baruch Z Harris

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Benjamin L Shneider

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D Holmes Morton

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Donna L Robinson

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Erik G Puffenberger

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10.1038/NG1147

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1

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34

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12704386

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