Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.08.014
Abstract: Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF… read more here.
Keywords: postnatal microcephaly; microcephaly dysmorphic; bptf; delay ... See more keywords
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac119
Abstract: Heterozygous variants in BPTF cause the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome (MIM#617755) characterized by intellectual disability (ID), speech delay, and postnatal microcephaly. BPTF functions within NURF, a complex comprising… read more here.
Keywords: neurodevelopmental disorder; dysmorphic facies; facies distal; neddfl syndrome ... See more keywords
Chromatin remodeling protein BPTF mediates chromatin accessibility at gene promoters in planarian stem cells
Sign Up to like & getrecommendations! Published in 2025 at "BMC Genomics"
DOI: 10.1186/s12864-025-11405-3
Abstract: The regulation of chromatin accessibility is essential in eukaryotic cells as one of several mechanisms that ensure gene activation occurs at appropriate times and in appropriate cell types. Accordingly, mutations in chromatin remodeling proteins are… read more here.
Keywords: bptf; chromatin accessibility; stem cells; gene ... See more keywords
BPTF inhibits NK cell activity and the abundance of natural cytotoxicity receptor co-ligands.
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.17834
Abstract: Using syngeneic BALB/c mouse breast cancer models, we show that the chromatin remodeling subunit bromodomain PHD finger transcription factor (BPTF) suppresses natural killer (NK) cell antitumor activity in the tumor microenvironment (TME). In culture, BPTF… read more here.
Keywords: bptf; cell activity; natural cytotoxicity; cytotoxicity receptor ... See more keywords
BPTF promotes the progression of distinct subtypes of breast cancer and is a therapeutic target
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1011173
Abstract: Purpose To assess the biomarker and functional role of the chromatin remodeling factor, bromodomain PHD finger transcription factor (BPTF), in breast cancer progression. Methods BPTF copy number was assessed using fluorescence in situ hybridization. BPTF… read more here.
Keywords: cell; progression; breast cancer; cancer ... See more keywords
BPTF activates the MAPK pathway through coexpression with Raf1 to promote proliferation of T-cell lymphoma
Sign Up to like & getrecommendations! Published in 2022 at "Oncology Letters"
DOI: 10.3892/ol.2022.13344
Abstract: The aim of the present study was to explore the role and biological function of bromodomain PHD finger transcription factor (BPTF) in T-cell lymphoma. Reverse transcription-quantitative PCR (RT-qPCR), western blotting, immunohistochemistry and bioinformatics analysis were… read more here.
Keywords: cell lymphoma; cell; bptf raf1; bptf ... See more keywords
Bromodomain PHD-finger transcription factor promotes glioma progression and indicates poor prognosis
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DOI: 10.3892/or.2018.6832
Abstract: Glioma is one of the most deadly central nervous system tumors around the world. Uncontrollable cell proliferation and invasion are key factors of cancer progression as well as glioma. Available evidence suggests that bromodomain PHD-finger… read more here.
Keywords: glioma; bptf; factor; expression ... See more keywords