-
1دورية أكاديمية
المؤلفون: 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.
المصدر: Journal of dermatological science [J Dermatol Sci] 2024 Sep; Vol. 115 (3), pp. 111-120. Date of Electronic Publication: 2024 Jun 22.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-569X (Electronic) Linking ISSN: 09231811 NLM ISO Abbreviation: J Dermatol Sci Subsets: MEDLINE
مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/radiation effects , Ultraviolet Rays*/adverse effects , Melanocytes*/radiation effects , Melanocytes*/metabolism , Xeroderma Pigmentosum*/genetics , Xeroderma Pigmentosum*/metabolism , Xeroderma Pigmentosum*/pathology , Cell Differentiation*/radiation effects , DNA Repair*/radiation effects, Humans ; Gene Expression Profiling ; Cells, Cultured ; Melanins/biosynthesis ; Melanins/metabolism ; Fibroblasts/radiation effects ; Fibroblasts/metabolism ; Xeroderma Pigmentosum Group A Protein/genetics ; Xeroderma Pigmentosum Group A Protein/metabolism ; Transcriptome/radiation effects
-
2دورية أكاديمية
المؤلفون: Wu SH; Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China., Xiao T; Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China., Zhao D; Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China., Zeng YH; Department of Dermatology, Hunan Children's Hospital, Hunan, Changsha, China., Zhu MF; Department of Dermatology, The Second Affiliated Hospital of Hunan University of Chinese Medicine, Hunan, Changsha, China.; Hunan Provincial Key Laboratory of Vascular Biology and Translational Medicine, Changsha, Hunan, China.
المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jul 26; Vol. 15, pp. 1418254. Date of Electronic Publication: 2024 Jul 26 (Print Publication: 2024).
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
مواضيع طبية MeSH: Protoporphyria, Erythropoietic*/genetics , Protoporphyria, Erythropoietic*/complications , Xeroderma Pigmentosum*/genetics , Xeroderma Pigmentosum*/complications , Ferrochelatase*/genetics, Humans ; Male ; Xeroderma Pigmentosum Group A Protein/genetics ; Mutation ; Asian People/genetics ; Female ; China ; Frameshift Mutation ; East Asian People
-
3دورية أكاديمية
المؤلفون: 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.
المصدر: DNA repair [DNA Repair (Amst)] 2024 Apr; Vol. 136, pp. 103633. Date of Electronic Publication: 2024 Feb 29.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101139138 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1568-7856 (Electronic) Linking ISSN: 15687856 NLM ISO Abbreviation: DNA Repair (Amst) Subsets: MEDLINE
-
4دورية أكاديمية
المؤلفون: Citak E; Department of Medical Biology, Cerrahpasa Medicine Faculty, Istanbul University-Cerrahpasa, Istanbul, 34098, Turkey., Yalin SF; Department of Nephrology, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Altiparmak MR; Department of Nephrology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Guven M; Department of Medical Biology, Cerrahpasa Medicine Faculty, Istanbul University-Cerrahpasa, Istanbul, 34098, Turkey. mguven@iuc.edu.tr.
المصدر: Molecular biology reports [Mol Biol Rep] 2023 Aug; Vol. 50 (8), pp. 6843-6850. Date of Electronic Publication: 2023 Jul 01.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
مواضيع طبية MeSH: Xeroderma Pigmentosum*/genetics , Xeroderma Pigmentosum*/metabolism , Kidney Failure, Chronic*/genetics , Kidney Failure, Chronic*/therapy , MicroRNAs*/genetics, Humans ; Xeroderma Pigmentosum Group D Protein/genetics ; Xeroderma Pigmentosum Group D Protein/metabolism ; DNA Repair/genetics ; Genetic Predisposition to Disease
SCR Disease Name: Xeroderma Pigmentosum, Complementation Group D
-
5دورية أكاديمية
المؤلفون: Reyes HH; Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines., Lin YC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Guevara BEK; Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines.; Brokenshire College School of Medicine, Davao City, Philippines.
المصدر: The Australasian journal of dermatology [Australas J Dermatol] 2023 May; Vol. 64 (2), pp. e165-e167. Date of Electronic Publication: 2023 Mar 03.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0135232 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-0960 (Electronic) Linking ISSN: 00048380 NLM ISO Abbreviation: Australas J Dermatol Subsets: MEDLINE
-
6دورية أكاديمية
المؤلفون: 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.
المصدر: 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.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
مواضيع طبية MeSH: Xeroderma Pigmentosum*/genetics , Xeroderma Pigmentosum*/metabolism , Skin Neoplasms*/genetics, Humans ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Alleles ; Xeroderma Pigmentosum Group A Protein/genetics ; Xeroderma Pigmentosum Group A Protein/metabolism ; DNA Repair/genetics ; DNA Damage/genetics ; Transcription Factor TFIIH/genetics ; Transcription Factor TFIIH/metabolism
-
7دورية أكاديمية
المؤلفون: Rossmanith R; Immunology Outpatient Clinic, Vienna, Austria.; Doctoral School Molecular Biology and Biochemistry, Institute of Molecular Biosciences, University of Graz, Graz, Austria.; Institute for Medical-Chemical Laboratory Diagnostics, Mistelbach-Gänserndorf State Clinic, Mistelbach, Austria., Sauerwein K; Immunology Outpatient Clinic, Vienna, Austria.; Department for Biomedical Research, Center of Experimental Medicine, Danube University Krems, Krems an der Donau, Austria., Geier CB; Immunology Outpatient Clinic, Vienna, Austria.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Leiss-Piller A; Immunology Outpatient Clinic, Vienna, Austria., Stemberger RF; Immunology Outpatient Clinic, Vienna, Austria., Sharapova S; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Gruber RW; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria., Bergler H; Doctoral School Molecular Biology and Biochemistry, Institute of Molecular Biosciences, University of Graz, Graz, Austria., Verbsky JW; Departments of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Csomos K; Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.; Division of Allergy/Immunology, Department of Pediatrics, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States., Walter JE; Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.; Division of Allergy/Immunology, Department of Pediatrics, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States., Wolf HM; Immunology Outpatient Clinic, Vienna, Austria.; Faculty of Medicine, Sigmund Freud University, Vienna, Austria.
المصدر: Frontiers in immunology [Front Immunol] 2024 Jul 11; Vol. 15, pp. 1423141. Date of Electronic Publication: 2024 Jul 11 (Print Publication: 2024).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE
مواضيع طبية MeSH: B-Lymphocytes*/immunology , Xeroderma Pigmentosum Group D Protein*/genetics , Xeroderma Pigmentosum Group D Protein*/deficiency , Mutation*, Humans ; Male ; Female ; Trichothiodystrophy Syndromes/genetics ; Trichothiodystrophy Syndromes/immunology ; DNA Repair ; Child ; Lymphocyte Activation/genetics ; Child, Preschool ; Adolescent
-
8دورية أكاديمية
المؤلفون: Krasikova YS; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia., Maltseva EA; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia., Khodyreva SN; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia., Evdokimov AN; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia., Rechkunova NI; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia., Lavrik OI; Institute of Chemical Biology and Fundamental Medicine, 630090 Novosibirsk, Russia.; Department of Natural Sciences, Novosibirsk State University, 630090 Novosibirsk, Russia.
المصدر: Biomolecules [Biomolecules] 2024 Jul 09; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 09.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE
-
9دورية أكاديمية
المؤلفون: Ferreira LÁ; Medical Sciences School, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Kim EHJ, Stelini RF, Velho PENF, de Moraes AM, Buffo T, Cintra ML
المصدر: Applied immunohistochemistry & molecular morphology : AIMM [Appl Immunohistochem Mol Morphol] 2024 Jul 01; Vol. 32 (6), pp. 272-279. Date of Electronic Publication: 2024 Jun 11.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100888796 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4058 (Electronic) Linking ISSN: 15334058 NLM ISO Abbreviation: Appl Immunohistochem Mol Morphol Subsets: MEDLINE
مواضيع طبية MeSH: Melanoma*/metabolism , Melanoma*/diagnosis , Melanoma*/pathology , Antigens, Neoplasm*/metabolism , Skin Neoplasms*/pathology , Skin Neoplasms*/metabolism , Skin Neoplasms*/diagnosis , Xeroderma Pigmentosum*/pathology , Xeroderma Pigmentosum*/metabolism , Xeroderma Pigmentosum*/diagnosis , Melanoma, Cutaneous Malignant*, Humans ; Male ; Female ; Adult ; Adolescent ; Middle Aged ; Child ; Immunohistochemistry
-
10دورية أكاديمية
المؤلفون: Barbour JA; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Ou T; Urology Institute of Shenzhen University, The Third Affiliated Hospital of Shenzhen University, Shenzhen University, Shenzhen, China., Yang H; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fang H; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Institute of Biomedical Data, South China Hospital, Medical School, Shenzhen University, Shenzhen, China., Yue NC; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Zhu X; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Wong-Brown MW; Centre for Drug Repurposing and Medicines Research, University of Newcastle, Newcastle, NSW, Australia; Hunter Medical Research Institute, Newcastle, NSW, Australia., Wong YT; Adult Cancer Program, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia., Bowden NA; Centre for Drug Repurposing and Medicines Research, University of Newcastle, Newcastle, NSW, Australia; Hunter Medical Research Institute, Newcastle, NSW, Australia., Wu S; Urology Institute of Shenzhen University, The Third Affiliated Hospital of Shenzhen University, Shenzhen University, Shenzhen, China; Department of Urology, South China Hospital, Medical School, Shenzhen University, Shenzhen, China. Electronic address: wusong@szu.edu.cn., Wong JWH; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Centre for Oncology and Immunology, Hong Kong Science Park, Hong Kong SAR, China; Centre for PanorOmic Sciences, The University of Hong Kong, Pokfulam, Hong Kong SAR, China. Electronic address: jwhwong@hku.hk.
المصدر: Cell genomics [Cell Genom] 2024 Aug 14; Vol. 4 (8), pp. 100627. Date of Electronic Publication: 2024 Aug 02.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE
مواضيع طبية MeSH: Urinary Bladder Neoplasms*/genetics , Xeroderma Pigmentosum Group D Protein*/genetics , Mutation*, Humans ; Prognosis