Sort   by:  
 Page size 
GenomicsChanges in H3K27me3 in Tatton-Brown-Rahman Syndrome Neuronal Progenitor Cells
Changes in H3K27me3 in Tatton-Brown-Rahman Syndrome Neuronal Progenitor Cells
PRJNA1248528 | ENA
ProteomicsLoss of function Dnmt3a mutation leads to aberrant neutrophil migration
To understand the impact of loss of function DNMT3A mutations in human patients, we performed proteomic analysis on serum samples of patients with Tatton-Brown-Rahman-Syndrome (TBRS). TBRS is an overgrowth syndrome caused by germline mutations in DNMT3A. Serum samples were obtained from 30 TBRS pati...
ORGANISM(S): Homo sapiens (Human) 
2026-09-14 | PXD077276 | Pride
Dnmt3a  tatton-brown-rahman-syndrome (tbrs)  migration 
GenomicsTranscriptomic changes in Tatton-Brown-Rahman Syndrome models of neuronal development
Transcriptomic changes in Tatton-Brown-Rahman Syndrome models of neuronal development
PRJNA1248524 | ENA
GenomicsDNA methylation changes in Tatton-Brown-Rahman Syndrome models of neuronal development
DNA methylation changes in Tatton-Brown-Rahman Syndrome models of neuronal development
PRJNA1248522 | ENA
GenomicsChanges in H3K27me3 in Tatton-Brown-Rahman Syndrome Neuronal Progenitor Cells
Human pluripotent stem cell (hPSC) models of Tatton-Brown-Rahman Syndrome (TBRS) were generated (R882H and P904L), and compared to isogenically paired controls (C-WT and WT, respectively). These models were used to generate MGE-like ventral telencephalic neuronal progenitors (V-NPCs) and dorsally pa...
ORGANISM(S): Homo sapiens 
2026-01-01 | GSE294186 | GEO
Methylation profilingDNA methylation changes in Tatton-Brown-Rahman Syndrome models of neuronal development
Human pluripotent stem cell (hPSC) models of Tatton-Brown-Rahman Syndrome (TBRS) were generated (R882H and P904L) and compared to isogenically paired controls (C-WT and WT, respectively). These models were used to specify cells to MGE-like ventral telencephalic neuronal progenitors (V-NPCs) and subs...
ORGANISM(S): Homo sapiens 
2026-01-01 | GSE294191 | GEO
TranscriptomicsTranscriptomic changes in Tatton-Brown-Rahman Syndrome models of neuronal development
Human pluripotent stem cell (hPSC) models of Tatton-Brown-Rahman Syndrome (TBRS) were generated (R882H and P904L) and compared to isogenically paired controls (C-WT and WT, respectively). These models were used to specify cells as MGE-like ventral telencephalic neuronal progenitors (V-NPCs) and subs...
ORGANISM(S): Homo sapiens 
2026-01-01 | GSE294189 | GEO
Unknown[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].
Not available
S-EPMC7568996 | biostudies-literature
UnknownFirst identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
Not available
S-EPMC6944862 | biostudies-literature
UnknownCase Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome.
Not available
S-EPMC9382078 | biostudies-literature
Sort   by:  
 Page size