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UnknownCOVID-19 et psoriasis de l’enfant : facteurs associes a une evolution defavorable de la COVID-19 et impact de l’infection sur le psoriasis. Registre Chi-PsoCov
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S-EPMC9748132 | biostudies-literature
GenomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (ChIP-Seq - iPSCs)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2024-09-19 | E-MTAB-14284 | biostudies-arrayexpress
GenomicsGeneration of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas based technology
Cornelia de Lange syndrome (CdLS) is an autosomal dominant disease mainly caused by mutations in the Nipped-B-like protein (NIPBL) gene resulting in the alteration of the cohesin pathway. Here, we generated human induced pluripotent stem cells (hiPSCs) from a CdLS patient carrying a mutation in the ...
ORGANISM(S): Homo sapiens 
2023-03-17 | E-MTAB-11604 | biostudies-arrayexpress
GenomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (WGS)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-06-23 | E-MTAB-12691 | biostudies-arrayexpress
TranscriptomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (RNA-Seq)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-06-15 | E-MTAB-12631 | biostudies-arrayexpress
ProteomicsPBRM1-deficient PBAF complexes target de novo genomic loci to activate pro-survival genes in clear cell renal cell carcinoma (PBRM1 dataset)
PBRM1 is lost in 40% of clear cell renal cell carcinomas (ccRCC) and the combined loss of VHL and PBRM1 drives ccRCC tumorigenesis. PBRM1 is an accessory subunit of the PBAF subclass of the SWI/SNF chromatin remodeler and despite its well-established role as a tumor suppressor, we have limited under...
ORGANISM(S): Homo Sapiens (human) 
2021-07-24 | PXD020554 | JPOST Repository
ProteomicsPBRM1-deficient PBAF complexes target de novo genomic loci to activate pro-survival genes in clear cell renal cell carcinoma (BRG1 dataset)
PBRM1 is lost in 40% of clear cell renal cell carcinomas (ccRCC) and the combined loss of VHL and PBRM1 drives ccRCC tumorigenesis. PBRM1 is an accessory subunit of the PBAF subclass of the SWI/SNF chromatin remodeler and despite its well-established role as a tumor suppressor, we have limited under...
ORGANISM(S): Homo Sapiens (human) 
2021-07-24 | PXD020553 | JPOST Repository
GenomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (sWGS)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-07-20 | E-MTAB-12989 | biostudies-arrayexpress
TranscriptomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (ATAC-Seq - D9)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-06-23 | E-MTAB-12684 | biostudies-arrayexpress
TranscriptomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (ATAC-Seq - D22)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-06-15 | E-MTAB-12661 | biostudies-arrayexpress
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