Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways

Human Molecular Genetics

Volumn 25, Issue 7, 2016, Pages 1294-1306

  Lalli, Matthew A ^a,b   Jang, Jiwon ^a   Park, Joo Hye C ^a   Wang, Yidi ^a   Guzman, Elmer ^a   Zhou, Hongjun ^a   Audouard, Morgane ^a   Bridges, Daniel ^a   Tovar, Kenneth R ^a   Papuc, Sorina M ^c   Tutulan Cunita, Andreea C ^c   Huang, Yadong ^d   Budisteanu, Magdalena ^c,e   Arghir, Aurora ^c   Kosik, Kenneth S ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Biomolecular Science and Engineering Program   (United States)

^c VICTOR BABES NATIONAL INSTITUTE OF PATHOLOGY   (Romania)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Alexandru Obregia Psychiatric Hospital Bucharest   (Romania)

Author keywords

[No Author keywords available]

Indexed keywords

BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN 1B; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; BAZ1B PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TRANSCRIPTOME;

ARTICLE; CELL RENEWAL; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME 7Q; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE EXPRESSION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NEURAL STEM CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME; CHROMOSOME 7; CHROMOSOME DELETION; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; GENETICS; INDUCED PLURIPOTENT STEM CELL; METABOLISM; NERVE CELL; PATHOPHYSIOLOGY; PHYSIOLOGY; SIGNAL TRANSDUCTION;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HAPLOINSUFFICIENCY; HUMANS; INDUCED PLURIPOTENT STEM CELLS; NEUROGENESIS; NEURONS; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSCRIPTOME; WILLIAMS SYNDROME;

EID: 84963732751     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw010     Document Type: Article

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