[HTML][HTML] ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients
K Apelt, SM White, HS Kim, JE Yeo… - The Journal of …, 2021 - ncbi.nlm.nih.gov
ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER),
interstrand cross-link (ICL) repair, and DNA double-strand break (DSB) repair. Only two …
interstrand cross-link (ICL) repair, and DNA double-strand break (DSB) repair. Only two …
[HTML][HTML] Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype-The Putative Role of MC1R Polymorphism as Modifier
FAB Leidenz, FV Bittencourt, WG Braga… - Dermatology Practical …, 2024 - ncbi.nlm.nih.gov
Objectives Report a unique phenotypic expression of mutant XPC allele that may be
compatible with a putative modifier role for MC1R polymorphism. Methods A family of 13 …
compatible with a putative modifier role for MC1R polymorphism. Methods A family of 13 …
[HTML][HTML] Xeroderma pigmentosum-associated childhood interstitial lung disease
S Kamble, K Utpat, U Desai, J Joshi… - Turkish Thoracic …, 2022 - ncbi.nlm.nih.gov
Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to
the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the …
the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the …
Xeroderma pigmentosum
D Liu - Handbook of Tumor Syndromes, 2020 - taylorfrancis.com
Xeroderma pigmentosum (XP) is a rare autosomal recessive photosensitive disorder that
typically causes cutaneous lesions (eg, lentigines, poikiloderma/telangiectasia), ocular …
typically causes cutaneous lesions (eg, lentigines, poikiloderma/telangiectasia), ocular …
Xeroderma Pigmentosum with Simultaneous Cutaneous and Ocular Squamous Cell Carcinoma
RMRA Effendi, A Fadhlih, IA Diana… - Clinical, Cosmetic …, 2022 - Taylor & Francis
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that disrupts
deoxyribonucleic acid (DNA) repair due to ultraviolet (UV) radiation. XP is characterized by …
deoxyribonucleic acid (DNA) repair due to ultraviolet (UV) radiation. XP is characterized by …
XERODERMA PIGMENTOSUM: A CASE REPORT
NME Thamrin, A Sofyan… - Jurnal Medical Profession …, 2019 - jurnal.fk.untad.ac.id
Xeroderma Pigmentosum (XP) adalah gangguan autosomal resesif yang sangat jarang,
penyakit ini disebabkan adanya inaktivasi protein pada jalur Nucleotide Excision Repair …
penyakit ini disebabkan adanya inaktivasi protein pada jalur Nucleotide Excision Repair …