Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

Nature Medicine

Volumn 19, Issue 2, 2013, Pages 193-201

  Luxán, Guillermo ^a   Casanova, Jesús C ^a   Martínez Poveda, Beatriz ^a   Prados, Belén ^a   D'Amato, Gaetano ^a   MacGrogan, Donal ^a   Gonzalez Rajal, Alvaro ^a   Dobarro, David ^a   Torroja, Carlos ^a   Martinez, Fernando ^a   Izquierdo García, José Luis ^a   Fernández Friera, Leticia ^a   Sabater Molina, María ^b   Kong, Young Y ^c   Pizarro, Gonzalo ^a,d   Ibañez, Borja ^a,e   Medrano, Constancio ^f   García Pavía, Pablo ^g   Gimeno, Juan R ^b   Monserrat, Lorenzo ^h   Jiménez Borreguero, Luis J ^a,i   De La Pompa, José Luis ^a   more..

^a CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^c Seoul National University   (South Korea)

^d UNIVERSIDAD EUROPEA DE MADRID   (Spain)

^e HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^f HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^g HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^h HOSPITAL JUAN CANALEJO   (Spain)

ⁱ HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DIMER; JAGGED1; MINDBOMB HOMOLOG 1; NOTCH1 RECEPTOR; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ARTICLE; CELL PROLIFERATION; EMBRYO CELL; ENDOCYTOSIS; ENZYME ACTIVITY; ENZYME INACTIVATION; GENE MUTATION; HEART DEVELOPMENT; HEART MUSCLE; HUMAN; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; VENTRICULAR NONCOMPACTION; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; CARDIOMYOPATHIES; FEMALE; HEART; HEART VENTRICLES; HEK293 CELLS; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN MULTIMERIZATION; RECEPTORS, NOTCH; SIGNAL TRANSDUCTION; UBIQUITIN-PROTEIN LIGASES; ZEBRAFISH;

DANIO RERIO;

EID: 84873536788     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.3046     Document Type: Article

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