Revealing the UV response of melanocytes in xeroderma pigmentosum group A using patient-derived induced pluripotent stem cells.

Autor: Takemori C; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan., Koyanagi-Aoi M; Division of Stem Cell Medicine, Graduate School of Medicine, Kobe University, Kobe, Japan; Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan; Center for Human Resource development for Regenerative Medicine, Kobe University Hospital, Kobe, Japan., Fukumoto T; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan., Kunisada M; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan; Department of Dermatology, Hyogo Prefectural Harima-Himeji General Medical Center, Himeji, Japan., Wakamatsu K; Institute for Melanin Chemistry, Fujita Health University, Toyoake, Japan., Ito S; Institute for Melanin Chemistry, Fujita Health University, Toyoake, Japan., Hosaka C; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan., Takeuchi S; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan., Kubo A; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan., Aoi T; Division of Stem Cell Medicine, Graduate School of Medicine, Kobe University, Kobe, Japan; Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan; Center for Human Resource development for Regenerative Medicine, Kobe University Hospital, Kobe, Japan. Electronic address: takaaoi@med.kobe-u.ac.jp., Nishigori C; Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan; Division of Advanced Medical Science, Graduate School of Science, Technology and Innovation, Kobe University, Kobe, Japan. Electronic address: chikako@med.kobe-u.ac.jp.

Publikováno v: Journal of dermatological science [J Dermatol Sci] 2024 Sep; Vol. 115 (3), pp. 111-120. Date of Electronic Publication: 2024 Jun 22.

Xeroderma pigmentosum protein XPD controls caspase-mediated stress responses.

Autor: Wei H; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Weaver YM; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Weaver BP; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA. benjamin.weaver@utsouthwestern.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 29; Vol. 15 (1), pp. 9344. Date of Electronic Publication: 2024 Oct 29.

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

Autor: Hozhabrpour A; Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran., Mojbafan M; Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran., Palizban F; Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran., Vahidnezhad F; UCSC Silicon Valley Extension, University of California, Santa Cruz, USA., Talebi S; Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran., Amani M; Clinical Research Development Unit of Allameh Bohlool Gonabadi Hospital, Gonabad University of Medical Sciences, Gonabad, Iran; Department of Dermatology, Gonabad University of Medical Sciences, Gonabad, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Naghavi A; Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., Khalesi R; Department of Medical Genetics, DeNA Laboratory, Tehran, Iran., Mansouri P; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran., Sotoudeh S; Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Mahmoudi H; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran., Varghaei A; Department of Dermatology, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran., Daneshpazhooh M; Department of Dermatology, Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran., Karimi F; Shiraz university of medical science, Iran., Zeinali S; Kawsar Human Genetics Research Center, Tehran, Iran., Kalamati E; Department of Obstetrics and Gynecology, Imam Zaman Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA., Youssefian L; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, CA, USA. Electronic address: LYoussefian@mednet.UCLA.edu., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: Vahidnezhh@chop.edu.

Publikováno v: DNA repair [DNA Repair (Amst)] 2024 Apr; Vol. 136, pp. 103633. Date of Electronic Publication: 2024 Feb 29.

A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.

Autor: van den Heuvel D; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Kim M; Center for Genomic Integrity, Institute for Basic Science, 44919 Ulsan, Republic of Korea.; Department of Biological Sciences, Ulsan National Institute of Science and Technology, 44919 Ulsan, Republic of Korea., Wondergem AP; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., van der Meer PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Witkamp M; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Lambregtse F; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Kim HS; Center for Genomic Integrity, Institute for Basic Science, 44919 Ulsan, Republic of Korea., Kan F; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Apelt K; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Kragten A; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., González-Prieto R; Department of Cell and Chemical Biology, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands.; Andalusian Center for Molecular Biology and Regenerative Medicine, University of Sevilla, 41092 Seville, Spain.; Department of Cell Biology, University of Seville, 41012 Seville, Spain., Vertegaal ACO; Department of Cell and Chemical Biology, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands., Yeo JE; Center for Genomic Integrity, Institute for Basic Science, 44919 Ulsan, Republic of Korea., Kim BG; Center for Genomic Integrity, Institute for Basic Science, 44919 Ulsan, Republic of Korea., van Doorn R; Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Schärer OD; Center for Genomic Integrity, Institute for Basic Science, 44919 Ulsan, Republic of Korea.; Department of Biological Sciences, Ulsan National Institute of Science and Technology, 44919 Ulsan, Republic of Korea., Luijsterburg MS; Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Mar 14; Vol. 120 (11), pp. e2208860120. Date of Electronic Publication: 2023 Mar 09.

XPD stalled on cross-linked DNA provides insight into damage verification.

Autor: Kuper J; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany. jochen.kuper@virchow.uni-wuerzburg.de., Hove T; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Maidl S; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Neitz H; Institute of Organic Chemistry, University of Würzburg, Würzburg, Germany., Sauer F; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Kempf M; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Schroeder T; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Greiter E; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany., Höbartner C; Institute of Organic Chemistry, University of Würzburg, Würzburg, Germany.; Center for Nanosystems Chemistry (CNC), University of Würzburg, Würzburg, Germany., Kisker C; Rudolf Virchow Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany. caroline.kisker@virchow.uni-wuerzburg.de.

Publikováno v: Nature structural & molecular biology [Nat Struct Mol Biol] 2024 Oct; Vol. 31 (10), pp. 1580-1588. Date of Electronic Publication: 2024 May 28.