4.5 Article

Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Multidisciplinary Sciences

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients

Andrey A. Yurchenko et al.

Summary: Xeroderma pigmentosum (XP) is a rare genetic disorder associated with an increased risk of skin cancer. In this study, the authors analyze skin cancer genomes from five different XP groups, revealing genetic and molecular factors related to the mutational profile and UV-induced mutagenesis in XP.

NATURE COMMUNICATIONS (2023)

Article Medical Informatics

A decision tree to improve identification of pathogenic mutations in clinical practice

Priscilla Machado do Nascimento et al.

BMC MEDICAL INFORMATICS AND DECISION MAKING (2020)

Article Dermatology

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients

K. M. Santiago et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Review Biochemistry & Molecular Biology

Sunlight damage to cellular DNA: Focus on oxidatively generated lesions

Andre Passaglia Schuch et al.

FREE RADICAL BIOLOGY AND MEDICINE (2017)

Article Dermatology

Xeroderma pigmentosum clinical practice guidelines

Shinichi Moriwaki et al.

JOURNAL OF DERMATOLOGY (2017)

Article Genetics & Heredity

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemical Research Methods

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

Vagheesh Narasimhan et al.

BIOINFORMATICS (2016)

Article Multidisciplinary Sciences

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Hiva Fassihi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Review Biochemistry & Molecular Biology

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health

Kenneth H. Kraemer et al.

PHOTOCHEMISTRY AND PHOTOBIOLOGY (2015)

Review Biochemistry & Molecular Biology

DNA repair diseases: What do they tell us about cancer and aging?

Carlos F. M. Menck et al.

GENETICS AND MOLECULAR BIOLOGY (2014)

Article Genetics & Heredity

LOVD v.2.0: The Next Generation in Gene Variant Databases

Ivo F. A. C. Fokkema et al.

HUMAN MUTATION (2011)

Letter Dermatology

Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene

Kyu-Seon Oh et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)

Article Biochemistry & Molecular Biology

Structural Basis of UV DNA-Damage Recognition by the DDB1-DDB2 Complex

Andrea Scrima et al.

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)