Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We also observed associations with relevant traits for heterozygous carriers of some rare recessive conditions, e.g., heterozygous carriers of the ERCC4 c.2395C>T (p.Arg799Trp) variant that causes Xeroderma pigmentosum were more susceptible to sunburn.
|
30665703 |
2019 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, RNA-Seq-based transcriptomic analysis indicated that expression levels of four core repair factors, xeroderma pigmentosum (XP) complementation group A (XPA), XPC, XPG, and XPF-ERCC1, are progressively up-regulated during differentiation, but not those of replication protein A (RPA) and transcription factor IIH (TFIIH).
|
30808711 |
2019 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We show that XP-causing mutations diminish XPF recruitment to DNA damage and only mildly affect global genome NER.
|
30165384 |
2018 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
|
29325523 |
2018 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Because several atypical xeroderma pigmentosum (XP) phenotype-causing XPF missense mutations are located in the SLX4-interacting region, we suspected the disruption of the interaction with SLX4 in these XPF mutants, thereby causing severer phenotypes.
|
26453996 |
2015 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we used whole-exome and Sanger sequencing on DNA of unclassified FA individuals and discovered biallelic germline mutations in ERCC4 (XPF), a structure-specific nuclease-encoding gene previously connected to xeroderma pigmentosum and segmental XFE progeroid syndrome.
|
23623386 |
2013 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively.
|
21612988 |
2011 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo.
|
20221251 |
2010 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
BEFREE |
Cockayne syndrome (CS) cells and xeroderma pigmentosum (XP) cells (XPD, XPA, XPG, and XPF) were defective in Pol II degradation, whereas XPC cells whose defect is limited to global genome NER in nontranscribing regions were proficient for Pol II degradation.
|
18927284 |
2008 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in XPF are associated with mild XP and rarely with progeria.
|
17273966 |
2007 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mild mutations in XPF cause the cancer-prone syndrome xeroderma pigmentosum.
|
17183314 |
2006 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 13 polymorphisms in seven DNA repair genes belonging to different repair pathways [X-ray repair cross-complementing group 1 (XRCC1): 26304C>T, 26651A>G, 28152A>G; xeroderma pigmentosum-D (XPD): 23591A>G, 35931A>C; excision repair complementing defective in Chinese hamster, group 1 (ERCC1): 19007C>T; XRCC3: 4541T>C, 17893A>G, 18067C>T; proliferating cell nuclear antigen (PCNA): 6084G>C; ERCC4: 30028C>T, 30147A>G; and XRCC2-31479A>G] in 317 incident bladder cancer patients and 317 controls.
|
16284380 |
2005 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Telomere loss in these mice was mediated by XPF, a structure-specific nuclease involved in ultraviolet-induced damage repair and mutated in individuals with xeroderma pigmentosum.
|
16142233 |
2005 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
MGD |
Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF.
|
14729965 |
2004 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
BEFREE |
The amount of mutated XPF protein is strongly reduced in cells from XP42RO, presumably due to a conformational change.
|
9579555 |
1998 |