Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. - Wikidata - wikimedia - TriplyDB

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

http://www.wikidata.org/entity/Q35039938

about

Genetic susceptibility to cerebrovascular disease A new horizon of moyamoya disease and associated health risks explored through RNF213 Moyamoya disease and syndromes: from genetics to clinical management Prioritizing genes for X-linked diseases using population exome data.Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease Serum miRNA signature in Moyamoya disease.Efficacy and mechanism of angiotensin II receptor blocker treatment in experimental abdominal aortic aneurysms.RNA-seq analysis of broiler liver transcriptome reveals novel responses to high ambient temperature.SNPfisher: tools for probing genetic variation in laboratory-reared zebrafish.Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.Immune response profiling identifies autoantibodies specific to Moyamoya patients.Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series.Zebrafish models of cerebrovascular disease.Genetics of ischemic stroke, stroke-related risk factors, stroke precursors and treatments.Advances and surgical considerations in the treatment of moyamoya disease.Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic moyamoya angiopathy.In reply. The genetics of moyamoya disease: recent insights into the pathogenesis of the disease.Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.Are there systemic comorbidities in haemophilia unrelated to bleeding and transfusion-transmitted infections?Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors.Intracranial hemorrhage from moyamoya disease during pregnancy and puerperium.Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis.

P2860

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P2860

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

http://www.wikidata.org/entity/Q35039938

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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J.AJHG.2011.04.017

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American Journal of Human Genetics

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Loss of BRCC3 deubiquitinating ...... iated with syndromic moyamoya.

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Brant M Weinstein

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Catherine Sarret

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France Woimant

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Francoise Bergametti

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Gary K Steinberg

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Jacob D Petralia

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Konstantinos Spengos

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Marc Nicolino

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Matthew G Butler

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Minh Arnould

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P2860

Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair

K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC-associated Brcc36 and proteasomal Poh1

MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations

Defining the human deubiquitinating enzyme interaction landscape

MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

Stages of embryonic development of the zebrafish

Regulation of Abro1/KIAA0157 during myocardial infarction and cell death reveals a novel cardioprotective mechanism for Lys63-specific deubiquitination

Two-color whole-mount in situ hybridization to vertebrate and Drosophila embryos

The MTCP-1/c6.1B gene encodes for a cytoplasmic 8 kD protein overexpressed in T cell leukemia bearing a t(X;14) translocation

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6

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Elisabeth Tournier-Lasserve

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