Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Human Mutation

Volumn 35, Issue 7, 2014, Pages 841-850

  Micale, Lucia ^a   Augello, Bartolomeo ^a   Maffeo, Claudia ^a   Selicorni, Angelo ^b   Zucchetti, Federica ^b   Fusco, Carmela ^a   De Nittis, Pasquelena ^a   Pellico, Maria Teresa ^a   Mandriani, Barbara ^a,c   Fischetto, Rita ^d   Boccone, Loredana ^e   Silengo, Margherita ^f   Biamino, Elisa ^f   Perria, Chiara ^g   Sotgiu, Stefano ^g   Serra, Gigliola ^g   Lapi, Elisabetta ^h   Neri, Marcella ⁱ   Ferlini, Alessandra ⁱ   Cavaliere, Maria Luigia ^j   Chiurazzi, Pietro ^k   Monica, Matteo Della ^l   Scarano, Gioacchino ^l   Faravelli, Francesca ^m   Ferrari, Paola ⁿ   Mazzanti, Laura ^o   Pilotta, Alba ^c   Patricelli, Maria Grazia ^p   Bedeschi, Maria Francesca ^q   Benedicenti, Francesco ^r   Prontera, Paolo ^s   Toschi, Benedetta ^t   Salviati, Leonardo ^u   Melis, Daniela ^v   Di Battista, Eliana ^w   Vancini, Alessandra ^x   Garavelli, Livia ^y   Zelante, Leopoldo ^a   Merla, Giuseppe ^a,z   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d POLICLINICO   (Italy)

^e UO Genetica Clinica e Malattie Rare Ospedale Microcitemico Cagliari   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g UNIVERSITY OF SASSARI   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ UNIVERSITY OF FERRARA   (Italy)

^j CARDARELLI HOSPITAL   (Italy)

^k CATHOLIC UNIVERSITY   (Italy)

^l UOC Genetica Medica   (Italy)

^m GALLIERA HOSPITAL   (Italy)

ⁿ UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^o UNIVERSITY OF BOLOGNA   (Italy)

^p Diagnostica e Ricerca San Raffaele   (Italy)

^q FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^r CENTRAL HOSPITAL OF BOLZANO   (Italy)

^s Hospital of Perugia   (Italy)

^t UNIVERSITY HOSPITAL OF PISA   (Italy)

^u UNIVERSITY OF PADOVA   (Italy)

^v UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^w UNIVERSITY OF GENOA   (Italy)

^x MAGGIORE HOSPITAL   (Italy)

^y S MARIA NUOVA HOSPITAL   (Italy)

^z UNIVERSITY OF TRIESTE   (Italy)

more..

Author keywords

Haploinsufficiency; Kabuki syndrome; KDM6A; KMT2D; Readthrough

Indexed keywords

GENTAMICIN; HOMEOBOX CONTAINING GENE 6; MESSENGER RNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; HISTONE DEMETHYLASE; HOMEODOMAIN PROTEIN; HOXC6 PROTEIN, HUMAN; MLL2 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA SPLICING; STOP CODON; TUMOR PROTEIN; UTX PROTEIN, HUMAN;

ARTICLE; BINDING SITE; CONTROLLED STUDY; DONOR SITE; EXON; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; KABUKI MAKEUP SYNDROME; KDM6A GENE; KMT2D GENE; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA DEGRADATION; SKIN FIBROBLAST; STOP CODON; TREATMENT RESPONSE; WESTERN BLOTTING; ABNORMALITIES, MULTIPLE; CELL LINE; COHORT ANALYSIS; CONGENITAL MALFORMATION; DNA SEQUENCE; DRUG EFFECTS; FACE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETICS; HEMATOLOGIC DISEASES; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING; VESTIBULAR DISEASES;

ABNORMALITIES, MULTIPLE; CELL LINE; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FACE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENTAMICINS; HAPLOINSUFFICIENCY; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; NEOPLASM PROTEINS; NONSENSE MEDIATED MRNA DECAY; NUCLEAR PROTEINS; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; VESTIBULAR DISEASES;

EID: 84902074147     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22547     Document Type: Article

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