Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus (Q24302408)

cardiac muscle cell development

GOA release 2020-03-11

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GOA release 2020-03-11

patent ductus arteriosus

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Alain Lalande

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Limin Zhu

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Roger Vranckx

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Philippe Khau Van Kien

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Nicolas Boisset

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Flavie Mathieu

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Mark Wegman

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Luke Glancy

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Jean-Marie Gasc

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François Brunotte

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Jean-Eric Wolf

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Jean-Baptiste Michel

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

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language of work or name

English

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publication date

March 2006

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343-9

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cites work

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Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13.

21 January 2018

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Familial patterns of thoracic aortic aneurysms.

21 January 2018

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Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

21 January 2018

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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

21 January 2018

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Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

21 January 2018

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The incidence of congenital heart disease

21 January 2018

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

21 January 2018

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Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus

21 January 2018

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Smooth muscle myosin heavy chain isoforms and their role in muscle physiology

21 January 2018

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Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly

21 January 2018

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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

21 January 2018

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Structural and genetic bases of arterial stiffness.

21 January 2018

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Smooth-muscle contraction without smooth-muscle myosin

21 January 2018

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Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

21 January 2018

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Mutation in myosin heavy chain 6 causes atrial septal defect

21 January 2018

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A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

21 January 2018

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Molecular genetics of Marfan syndrome

21 January 2018

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Characterization of a continuous smooth muscle cell line derived from rabbit aorta

21 January 2018

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

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Predicting coiled coils from protein sequences

21 January 2018

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Automatic determination of aortic compliance with cine-magnetic resonance imaging: an application of fuzzy logic theory.

21 January 2018

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Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis

21 January 2018

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Aortic dissection and patent ductus arteriosus in three generations

21 January 2018

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7 January 2021

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14

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7 January 2021

Skip residues and charge interactions in myosin II coiled-coils: implications for molecular packing

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7 January 2021

Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus

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7 January 2021

Studies on closure of the ductus arteriosus. 3. Species differences in closure rate and morphology

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7 January 2021

Role of the C-terminal extremities of the smooth muscle myosin heavy chains: implication for assembly properties

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7 January 2021