Of mice and men: molecular genetics of congenital heart disease - sprookjes - yvandenbroek - TriplyDB

Of mice and men: molecular genetics of congenital heart disease

Of mice and men: molecular genetics of congenital heart disease

http://www.wikidata.org/entity/Q26995476

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Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus Rare de novo copy number variants in patients with congenital pulmonary atresia.TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.Kruppel-like factors in muscle health and disease.A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects Systems biology surveillance decrypts pathological transcriptome remodeling.Redefining the MED13L syndrome Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese.A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.MESP1 Mutations in Patients with Congenital Heart Defects.A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Increased Hemodynamic Load in Early Embryonic Stages Alters Endocardial to Mesenchymal Transition.Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.The programming of cardiovascular disease.Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.Spatiotemporal regulation of enhancers during cardiogenesis.Conserved signaling mechanisms in Drosophila heart development.Recent advances in congenital heart disease genomics.Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases.Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects Single cardiomyocyte nuclear transcriptomes reveal a lincRNA-regulated de-differentiation and cell cycle stress-response in vivo.A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.A novel NKX2.6 mutation associated with congenital ventricular septal defect.Transgenerational cardiology: One way to a baby's heart is through the mother.MEF2C loss-of-function mutation contributes to congenital heart defects.TBX1 loss-of-function mutation contributes to congenital conotruncal defects.TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy.In Vitro Modeling of Congenital Heart Defects Associated with an NKX2-5 Mutation Revealed a Dysregulation in BMP/Notch-Mediated Signaling.Familial co-occurrence of congenital heart defects follows distinct patterns.Next generation sequencing applications for cardiovascular disease.Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects.Cardiac Development and Transcription Factors: Insulin Signalling, Insulin Resistance, and Intrauterine Nutritional Programming of Cardiovascular Disease.HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.

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Of mice and men: molecular genetics of congenital heart disease

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2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Of mice and men: molecular genetics of congenital heart disease

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Of mice and men: molecular genetics of congenital heart disease

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Cellular and Molecular Life Sciences

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Of mice and men: molecular genetics of congenital heart disease

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Karin de Linde Lind Troelsen

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Troels Askhøj Andersen

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]

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

Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2

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10.1007/S00018-013-1430-1

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genetic variation

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