Mutations in DCHS1 cause mitral valve prolapse

Nature

Volumn 525, Issue 7567, 2015, Pages 109-113

  Durst, Ronen ^a,b   Sauls, Kimberly ^c   Peal, David S ^a   DeVlaming, Annemarieke ^c   Toomer, Katelynn ^c   Leyne, Maire ^a   Salani, Monica ^a   Talkowski, Michael E ^a   Brand, Harrison ^a   Perrocheau, Maëlle ^d   Simpson, Charles ^a   Jett, Christopher ^a   Stone, Matthew R ^a   Charles, Florie ^a   Chiang, Colby ^a   Lynch, Stacey N ^a   Bouatia Naji, Nabila ^d,e   Delling, Francesca N ^f   Freed, Lisa A ^g   Tribouilloy, Christophe ^h   Le Tourneau, Thierry ⁱ   LeMarec, Hervé ⁱ   Fernandez Friera, Leticia ^j,k   Solis, Jorge ^j,k   Trujillano, Daniel ^l,m,n,o   Ossowski, Stephan ^l,m   Estivill, Xavier ^l,m,n,o   Dina, Christian ^i,p,q   Bruneval, Patrick ^r   Chester, Adrian ^s   Schott, Jean Jacques ^i,p,q   Irvine, Kenneth D ^t   Mao, Yaopan ^t   Wessels, Andy ^c   Motiwala, Tahirali ^c   Puceat, Michel ^u   Tsukasaki, Yoshikazu ^v   Menick, Donald R ^c   Kasiganesan, Harinath ^c   Nie, Xingju ^c   Broome, Ann Marie ^c   Williams, Katherine ^c   Johnson, Amanda ^c   Markwald, Roger R ^c   Jeunemaitre, Xavier ^d,e,r   Hagege, Albert ^d,e,r   Levine, Robert A ^a,e   Milan, David J ^a   Norris, Russell A ^c   Slaugenhaupt, Susan A ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f HARVARD MEDICAL SCHOOL   (United States)

^g YALE NEW HAVEN HOSPITAL   (United States)

^h AMIENS UNIVERSITY HOSPITAL   (France)

ⁱ L INSTITUT DU THORAX   (France)

^j CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

^k Hospital Universitario HM Montepríncipe   (Spain)

^l CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^m UNIVERSITAT POMPEU FABRA   (Spain)

ⁿ HOSPITAL DEL MAR   (Spain)

^o CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^p CNRS   (France)

^q UNIVERSITÉ DE NANTES   (France)

^r HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^s NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^t RUTGERS UNIVERSITY   (United States)

^u AIX MARSEILLE UNIVERSITY   (France)

^v UNIVERSITY OF TEXAS   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA A4 PRECURSOR PROTEIN BINDING FAMILY B MEMBER 1; AMYLOID BETA PROTEIN; BONE MORPHOGENETIC PROTEIN 4; CADHERIN; COMPLEMENTARY DNA; DACHSOUS CADHERIN RELATED 1A; DACHSOUS CADHERIN RELATED 1B; GENOMIC DNA; MESSENGER RNA; PROTEOGLYCAN; UNCLASSIFIED DRUG; DCHS1 PROTEIN, HUMAN; DCHS1 PROTEIN, MOUSE; DCHS1B PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

CARDIOVASCULAR DISEASE; CHROMOSOME; CYPRINID; ETIOLOGY; FLY; GENE EXPRESSION; GENETIC ANALYSIS; MUTATION;

ADULT; AGED; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MIGRATION; CELL POLARITY; CHROMOSOME 10; CHROMOSOME 11; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EXPERIMENTAL FISH; FEMALE; GENE LOCATION; GENE SILENCING; GENETIC CODE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HALF LIFE TIME; HEART FAILURE; HEART VALVE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; IN SITU HYBRIDIZATION; IN VITRO STUDY; INDEL MUTATION; MALE; MIDDLE AGED; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MORPHOGENESIS; MOUSE; NONHUMAN; ONSET AGE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN STABILITY; ZEBRA FISH; ANIMAL; CELL MOTION; CONGENITAL MALFORMATION; DEFICIENCY; EMBRYOLOGY; GENETICS; METABOLISM; MITRAL VALVE; MUTATION; PATHOLOGY; PEDIGREE; SURGERY;

DANIO RERIO; MUS;

ANIMALS; BODY PATTERNING; CADHERINS; CELL MOVEMENT; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; MALE; MICE; MITRAL VALVE; MITRAL VALVE PROLAPSE; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STABILITY; RNA, MESSENGER; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84940937075     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature14670     Document Type: Article

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