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UnknownComplementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.
Not available
S-EPMC1287536 | biostudies-literature
UnknownWarsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Not available
S-EPMC2820174 | biostudies-literature
UnknownTargeting the cell cycle in head and neck cancer by Chk1 inhibition: a novel concept of bimodal cell death.
Not available
S-EPMC6572811 | biostudies-literature
ProteomicsTwo siblings with strong NER inactivation due to inherited ERCC1 deficiency display mild clinical features of XP and CS with severe liver impairment
The ERCC1-XPF heterodimer is a multifunctional endonuclease involved in nucleotide excision repair (NER), inter-strand crosslink (ICL) repair, and DNA double-strand break (DSB) repair. Only two patients with inherited ERCC1 defects have been reported who both died at an early age. Here, we describe ...
ORGANISM(S): Homo sapiens (Human) 
2021-01-26 | PXD017940 | Pride
Nucleotide excission repair Ercc1 Cockayne syndrome Xeroderma pigmentosum 
ProteomicsLoss of FLCN-FNIP1/2 Induces a Non-Canonical Interferon 1 Response in Human Renal Tubular Epithelial Cells
Germline inactivating mutations in Folliculin (FLCN) cause Birt–Hogg–Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing to kidney tumors. FLCN is a conserved, essential gene that has been linked to diverse cellular processes but the mechanisms by which FLCN prevents kidney cancer r...
ORGANISM(S): Homo sapiens (Human) 
2021-02-11 | PXD021346 | Pride
Flcn Folliculin Bhd Human Kidney Birt–hogg–dubé syndrome 
UnknownTailoring heated intraperitoneal mitomycin C for peritoneal metastases originating from colorectal carcinoma: a translational approach to improve survival.
Not available
S-EPMC4453952 | biostudies-literature
UnknownIsolation of a cDNA representing the Fanconi anemia complementation group E gene.
Not available
S-EPMC1288571 | biostudies-literature
UnknownBiallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Not available
S-EPMC8769543 | biostudies-literature
UnknownAcquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Not available
S-EPMC5520920 | biostudies-literature
UnknownWarsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Not available
S-EPMC7452896 | biostudies-literature
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