MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Méné trier-like gastropathy

Human Molecular Genetics

Volumn 26, Issue 1, 2017, Pages 33-43

  Piccolo, Pasquale ^a   Attanasio, Sergio ^a   Secco, Ilaria ^b   Sangermano, Riccardo ^a   Strisciuglio, Caterina ^c   Limongelli, Giuseppe ^c   Miele, Erasmo ^d   Mutarelli, Margherita ^a   Banfi, Sandro ^a,c   Nigro, Vincenzo ^a,c   Pons, Tirso ^e   Valencia, Alfonso ^e   Zentilin, Lorena ^b   Campione, Severo ^d   Nardone, Gerardo ^d   Lynnes, Ty C ^f   Celestino Soper, Patricia B S ^f   Spoonamore, Katherine G ^g   D'Armiento, Francesco P ^d   Giacca, Mauro ^b,h   Staiano, Annamaria ^d   Vatta, Matteo ^f,g   Collesi, Chiara ^b,h   Brunetti Pierri, Nicola ^a,d   more..

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e Structural Biology and Biocomputing Programme   (Spain)

^f Department of Medical and Molecular Genetics ^*  (United States)

^g INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF TRIESTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; NOTCH3 RECEPTOR; TRANSCRIPTION FACTOR HES 1; MIB2 PROTEIN, HUMAN; NOTCH RECEPTOR; UBIQUITIN PROTEIN LIGASE;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; APOPTOSIS; ARTICLE; ASYMPTOMATIC DISEASE; AUTOSOMAL DOMINANT INHERITANCE; CELL PROLIFERATION; CONTROLLED STUDY; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; HEART LEFT VENTRICLE; HEART LEFT VENTRICLE HYPERTRABECULATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LEUKOCYTE; MENETRIER DISEASE; MIB2 GENE; MIDDLE AGED; MISSENSE MUTATION; NEWBORN; NONHUMAN; PEDIGREE; PREDICTION; PRIORITY JOURNAL; PROTEIN STABILITY; RAT; SIGNAL TRANSDUCTION; UBIQUITINATION; VENTRICULAR NONCOMPACTION; WHOLE EXOME SEQUENCING; ANIMAL; CARDIAC MUSCLE CELL; CARDIOMYOPATHIES; CASE CONTROL STUDY; CELL CULTURE; COMPARATIVE STUDY; CYTOLOGY; EXOME; GASTRITIS, HYPERTROPHIC; GENE EXPRESSION REGULATION; GENETICS; HEART LEFT VENTRICLE FUNCTION; MALE; METABOLISM; PATHOLOGY; PHENOTYPE; STOMACH DISEASES;

ANIMALS; ANIMALS, NEWBORN; CARDIOMYOPATHIES; CASE-CONTROL STUDIES; CELLS, CULTURED; EXOME; FEMALE; GASTRITIS, HYPERTROPHIC; GENE EXPRESSION REGULATION; HUMANS; MALE; MUTATION, MISSENSE; MYOCYTES, CARDIAC; PEDIGREE; PHENOTYPE; RATS; RECEPTORS, NOTCH; SIGNAL TRANSDUCTION; STOMACH DISEASES; UBIQUITIN-PROTEIN LIGASES; UBIQUITINATION; VENTRICULAR DYSFUNCTION, LEFT;

EID: 85018518784     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw365     Document Type: Article

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