PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.
PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.
PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.
PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.
PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.
PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.
rs753044214 in
BPTF gene and
Multiple congenital anomalies
PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.
PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.
PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.
PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.
PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.