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UnknownSHFM1 deficiency suppresses esophageal squamous cell carcinomas progression via modulating NF‑κB signaling and enhancing nature killer cell‑mediated tumor surveillance.
Not available
S-EPMC10119621 | biostudies-literature
GenomicsGenome-wide profiling of p63 binding sites identifies genes and regulatory elements for p63-related disorders
We identified p63 target genes and binding sites responsible for ectodermal defects by genome-wide profiling of p63 binding using ChIP-seq and expression analysis in human primary keratinocytes from patients with p63 mutations. As proof of principle, we identified a novel de novo microdeletion causi...
ORGANISM(S): Homo sapiens 
2010-08-15 | E-GEOD-17611 | biostudies-arrayexpress
UnknownSplit hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
Not available
S-EPMC2986677 | biostudies-literature
UnknownGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
Not available
S-EPMC2924305 | biostudies-literature
ProteomicsSystematic identification of factors involved in the silencing of germline genes in mouse embryonic stem cells
In mammals, many germline genes are repressed by epigenetic mechanisms to prevent their illegitimate expression in embryonic and somatic cells. To advance our understanding of the complete mechanisms restricting the expression of germline genes in mammals, we analyzed the chromatin signature of germ...
ORGANISM(S): Mus musculus (Mouse) 
2023-02-03 | PXD030666 | Pride
Germline genes Erh Prc1.6 Shfm1 Crispr-cas9 screen Dna methylation Es cells Usp7 
TranscriptomicsIdentification of factors involved in the silencing of germline genes in mouse embryonic cells
In mammals, many germline genes are repressed by epigenetic mechanisms to prevent their illegitimate expression in embryonic and somatic cells. To advance our understanding of the complete mechanisms restricting the expression of germline genes in mammals, we performed a genome-wide CRISPR-Cas9 knoc...
ORGANISM(S): Mus musculus 
2023-02-11 | GSE192556 | GEO
UnknownA genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Not available
S-EPMC10616856 | biostudies-literature
UnknownSplit Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Not available
S-EPMC10454356 | biostudies-literature
UnknownMetabolic reprogramming-driven homologous recombination and TCA cycle dysregulation contribute to poor prognoses in lung adenocarcinoma.
Not available
S-EPMC11142899 | biostudies-literature
UnknownSystematic identification of factors involved in the silencing of germline genes in mouse embryonic stem cells.
Not available
S-EPMC10123117 | biostudies-literature
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