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Academic Journal

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

  • Authors : Sagun JP; Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Khan SG

Subjects: Xeroderma Pigmentosum Group A Protein*/Xeroderma Pigmentosum Group A Protein*/Xeroderma Pigmentosum Group A Protein*/genetics ; Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/genetics ; Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/complications

  • Source: PLoS genetics [PLoS Genet] 2024 Dec 02; Vol. 20 (12), pp. e1011265. Date of Electronic Publication: 2024 Dec 02 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection

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Academic Journal

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

  • Authors : Wadt KAW; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

Subjects: Ubiquitin Thiolesterase*/Ubiquitin Thiolesterase*/Ubiquitin Thiolesterase*/genetics ; Melanoma*/Melanoma*/Melanoma*/genetics ; Melanoma*/Melanoma*/Melanoma*/pathology Uveal melanoma

  • Source: PloS one [PLoS One] 2024 Oct 08; Vol. 19 (10), pp. e0306386. Date of Electronic Publication: 2024 Oct 08 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.

  • Authors : Wei R; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.; Department of Nutrition and Systems Biology and Bioinformatics Program, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America.

Subjects: PTEN Phosphohydrolase*/PTEN Phosphohydrolase*/PTEN Phosphohydrolase*/genetics ; DNA Repair*/DNA Repair*/DNA Repair*/genetics ; DNA Damage*/DNA Damage*/DNA Damage*/genetics

  • Source: PLoS computational biology [PLoS Comput Biol] 2024 Oct 02; Vol. 20 (10), pp. e1012449. Date of Electronic Publication: 2024 Oct 02 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection

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Academic Journal

Germline multigene panel testing in acute and chronic pancreatitis.

  • Authors : Ramsey ML; Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.; Heald B

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Pancreatitis, Chronic*/Pancreatitis, Chronic*/Pancreatitis, Chronic*/genetics ; Pancreatitis, Chronic*/Pancreatitis, Chronic*/Pancreatitis, Chronic*/diagnosis

  • Source: PloS one [PLoS One] 2024 Aug 22; Vol. 19 (8), pp. e0307076. Date of Electronic Publication: 2024 Aug 22 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

The clock-like accumulation of germline and somatic mutations can arise from the interplay of DNA damage and repair.

  • Authors : Spisak N; Department of Biological Sciences, Columbia University, New York, New York, United States of America.; de Manuel M

Subjects: DNA Repair*/DNA Repair*/DNA Repair*/genetics ; DNA Damage*/DNA Damage*/DNA Damage*/genetics ; Germ-Line Mutation*

  • Source: PLoS biology [PLoS Biol] 2024 Jun 17; Vol. 22 (6), pp. e3002678. Date of Electronic Publication: 2024 Jun 17 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection

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Academic Journal

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis.

  • Authors : Limijadi EKS; Doctoral Study Program of Medical and Health Science, Universitas Diponegoro, Semarang, Indonesia.; Faculty of Medicine, Department of Clinical Pathology, Universitas Diopnegoro, Semarang, Indonesia.

Subjects: Pancreatic Neoplasms*/Pancreatic Neoplasms*/Pancreatic Neoplasms*/genetics ; Germ-Line Mutation* ; BRCA2 Protein*/BRCA2 Protein*/BRCA2 Protein*/genetics Pancreatic carcinoma, familial

  • Source: PloS one [PLoS One] 2024 May 29; Vol. 19 (5), pp. e0299276. Date of Electronic Publication: 2024 May 29 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

  • Authors : Wei CH; Department of Pathology, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.; Shehayeb S

Subjects: Germ-Line Mutation* ; Carcinoma*; Humans

  • Source: PloS one [PLoS One] 2023 Jun 13; Vol. 18 (6), pp. e0286998. Date of Electronic Publication: 2023 Jun 13 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

  • Authors : Rao ND; Institute for Public Health Genetics, University of Washington, Seattle, Washington, United States of America.; Shirts BH

Subjects: BRCA1 Protein*/BRCA1 Protein*/BRCA1 Protein*/genetics ; Germ-Line Mutation*; Humans

  • Source: PloS one [PLoS One] 2023 Feb 08; Vol. 18 (2), pp. e0278010. Date of Electronic Publication: 2023 Feb 08 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

  • Authors : Liang Y; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Chiu PK

Subjects: Germ-Line Mutation* ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics; China

  • Source: PLoS genetics [PLoS Genet] 2022 Sep 12; Vol. 18 (9), pp. e1010373. Date of Electronic Publication: 2022 Sep 12 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection

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Academic Journal

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

  • Authors : Matzenbacher Bittar C; Programa de Pós-Graduação em Genética e Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.; Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.

Subjects: Germ-Line Mutation*; Li-Fraumeni Syndrome/Li-Fraumeni Syndrome/Li-Fraumeni Syndrome/*pathology ; Sequence Analysis, DNA/Sequence Analysis, DNA/Sequence Analysis, DNA/*methods

  • Source: PloS one [PLoS One] 2021 Sep 16; Vol. 16 (9), pp. e0251639. Date of Electronic Publication: 2021 Sep 16 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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  • 1-10 of  670 results for ""Germ-Line Mutation""