Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. - Wikidata - wikimedia - TriplyDB

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

http://www.wikidata.org/entity/Q33387213

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Cytogenomic Aberrations in Congenital Cardiovascular Malformations Hypoplastic left heart syndrome: current considerations and expectations PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking Dynamic and differential regulation of stem cell factor FoxD3 in the neural crest is Encrypted in the genome Inhibitory effect of hsa-miR-590-5p on cardiosphere-derived stem cells differentiation through downregulation of TGFB signaling Genetics and Genomics of Congenital Heart Disease.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.Interstitial 11q24 deletion: a new case and review of the literature.The molecular genetics of congenital heart disease: a review of recent developments.Genetic basis of congenital cardiovascular malformations Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities MatrixCatch--a novel tool for the recognition of composite regulatory elements in promoters New Genetic Insights into Congenital Heart Disease.Partitioning the heart: mechanisms of cardiac septation and valve development The transcription factors Ets1 and Sox10 interact during murine melanocyte development.De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect Probing human cardiovascular congenital disease using transgenic mouse models.microRNA expression profiling and functional annotation analysis of their targets modulated by oxidative stress during embryonic heart development in diabetic mice.Transcription factor pathways and congenital heart disease.Elucidating the mechanisms of transcription regulation during heart development by next-generation sequencing.Characterising adequacy or inadequacy of the borderline left ventricle: what tools can we use?Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.ETS-dependent regulation of a distal Gata4 cardiac enhancer.Loss of JAM-C leads to impaired esophageal innervations and megaesophagus in mice.Identification and dissection of a key enhancer mediating cranial neural crest specific expression of transcription factor, Ets-1.Rac1 signaling is critical to cardiomyocyte polarity and embryonic heart development.A Matter of the Heart: The African Clawed Frog Xenopus as a Model for Studying Vertebrate Cardiogenesis and Congenital Heart Defects.Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.Rare copy number variants in patients with congenital conotruncal heart defects.Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

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P2860

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

http://www.wikidata.org/entity/Q33387213

description

2009 nî lūn-bûn

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2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2009年の論文

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Human Molecular Genetics

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Deletion of ETS-1, a gene in t ...... entricular morphology in mice.

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Chris Coldren

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D Woodrow Benson

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Dunbar Ivy

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Elizabeth Goldmuntz

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M B Perryman

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Maoqing Ye

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Paul Grossfeld

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Xingqun Liang

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P2860

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Hemorrhage, impaired hematopoiesis, and lethality in mouse embryos carrying a targeted disruption of the Fli1 transcription factor

Role of the Rho GTPase-activating protein RICS in neurite outgrowth

Fate of the mammalian cardiac neural crest

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis

Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia

FGF signaling delineates the cardiac progenitor field in the simple chordate, Ciona intestinalis

Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q

Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf.

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

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10.1093/HMG/DDP532

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Lee Ann Garrett-sinha

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40035774

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