Benutzer: Gast  Login
Titel:

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan; El-Hattab, Ayman W
Abstract:
BACKGROUND: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab syndrome and provide functional characterization of this novel histone modification disorder in a multi-omics approach. METHODS: Chromosomal microarray/exome sequencing in all individuals. Western blotting from fibroblasts in two individua...     »
Zeitschriftentitel:
Hum Mol Genet
Jahr:
2022
Band / Volume:
31
Heft / Issue:
18
Seitenangaben Beitrag:
3083-3094
Volltext / DOI:
doi:10.1093/hmg/ddac098
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35512351
Print-ISSN:
0964-6906
TUM Einrichtung:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
 BibTeX