Sort   by:  
 Page size 
UnknownA familial study of Hallermann-Streiff-Francois syndrome.
Not available
S-EPMC5476608 | biostudies-literature
UnknownHallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Not available
S-EPMC3343748 | biostudies-literature
ProteomicsCHD6 IP from human induced pluripotent stem cells LC-MS-MS
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HS...
ORGANISM(S): Homo sapiens (Human) 
2021-03-20 | PXD024803 | Pride
Human ipscs Hallermann-streiff syndrome Chd6 immunoprecipitation Chd6 overexpression Lc-ms/ms 
UnknownOverarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Not available
S-EPMC8140133 | biostudies-literature
GenomicsOverarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology [ATAC-Seq]
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers critically implicated in human pathologies, with CHD6 being one of its least studied members. Here, we discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Str...
ORGANISM(S): Homo sapiens 
2021-02-22 | GSE161118 | GEO
TranscriptomicsImpaired CHD6 function links misregulation of autophagy and DNA damage response to premature ageing [RNA-Seq]
Members of the Chromodomain-Helicase-DNA binding (CHD) protein family are chromatin remodelers critically implicated in human pathologies. CHD6 is the least studied member of this family, and we were motivated to dissect its in-cell roles by discovering a mutated CHD6 allele in a patient suffering f...
ORGANISM(S): Homo sapiens 
2021-02-19 | GSE135832 | GEO
GenomicsImpaired CHD6 function links misregulation of autophagy and DNA damage response to premature ageing [ChIP-Seq]
Members of the Chromodomain-Helicase-DNA binding (CHD) protein family are chromatin remodelers critically implicated in human pathologies. CHD6 is the least studied member of this family, and we were motivated to dissect its in-cell roles by discovering a mutated CHD6 allele in a patient suffering f...
ORGANISM(S): Homo sapiens 
2021-02-19 | GSE136057 | GEO
UnknownGap junctions in inherited human disorders of the central nervous system.
Not available
S-EPMC3771870 | biostudies-literature
GenomicsCarbamazepine-induced hypersensitivity reactions in Europeans
An antiepileptic drug carbamazepine is well tolerated by the majority of patients, but can cause severe and potentialy fatal hypersensitivity reactions in a small number of individuals. The aim of this study was to identify genetic predictors of hypersensitivity reactions to carbamazepine. We undert...
EGAS00000000037 | EGA
GenomicsOverarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology [ATAC-Seq]
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology [ATAC-Seq]
PRJNA675611 | ENA
Sort   by:  
 Page size