Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies - Wikidata - wikimedia - TriplyDB

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

http://www.wikidata.org/entity/Q28261852

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What Is New in Genetics of Congenital Heart Defects?Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results†.Notch Signaling and the Skeleton.CdGAP/ARHGAP31, a Cdc42/Rac1 GTPase regulator, is critical for vascular development and VEGF-mediated angiogenesis.Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.Notch signaling in lung diseases: focus on Notch1 and Notch3.The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.EOGT and O-GlcNAc on secreted and membrane proteins.Elucidation of radiation-resistant clones by a serial study of intratumor heterogeneity before and after stereotactic radiotherapy in lung cancer.Notch Signaling in Development, Tissue Homeostasis, and Disease.Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.Congenital heart defects in molecularly proven Kabuki syndrome patients.Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.Congenital diseases caused by defective -glycosylation of Notch receptors

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

http://www.wikidata.org/entity/Q28261852

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2015 nî lūn-bûn

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2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2015 թվականի օգոստոսին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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CIRCGENETICS.115.001086

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Circulation: Cardiovascular Genetics

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Haploinsufficiency of the NOTC ...... ith Variable Cardiac Anomalies

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Anastasios S V Karountzos

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Claire S Collinson

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Deborah Ruddy

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Edward J Taylor

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Francesco Brancati

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John L Tolmie

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Katie M Snape

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Laura Southgate

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Leonardo Salviati

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Luitgard M Graul-Neumann

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P2860

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition

A method and server for predicting damaging missense mutations

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

Mutations in NOTCH1 cause Adams-Oliver syndrome

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

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Bruno Dallapiccola

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2015-08-01T00:00:00Z

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25963545

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haploinsufficiency

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