المؤلفون: Baptista Freitas M; Centro Hospitalar Universitário de São João, Oporto, Portugal. martacbfreitas@gmail.com., Desmyter L; Center for Human Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Badoer C; Center for Human Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Smits G; Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Vandernoot I; Center for Human Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., T Kint de Roodenbeke D; Jules Bordet Institute, Université Libre de Bruxelles, Brussels, Belgium.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 980-986. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Telomere-Binding Proteins*/genetics , Shelterin Complex* , Pedigree*, Humans ; Male ; Female ; Middle Aged ; Adult ; Genetic Testing/methods ; Aged ; Genetic Predisposition to Disease

المؤلفون: Wentworth K; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA., Nandakumar J; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: jknanda@umich.edu.

المصدر: Molecular cell [Mol Cell] 2024 Jul 25; Vol. 84 (14), pp. 2598-2600.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Telomere-Binding Proteins*/metabolism , Telomere-Binding Proteins*/genetics , Shelterin Complex*/metabolism , Telomere*/metabolism , Telomere*/genetics , DNA Replication*, Humans ; Phosphorylation

المؤلفون: Cai SW; Laboratory of Cell Biology and Genetics, The Rockefeller University, New York, NY 10065, USA; Laboratory of Molecular Electron Microscopy, The Rockefeller University, New York, NY 10065, USA., Takai H; Laboratory of Cell Biology and Genetics, The Rockefeller University, New York, NY 10065, USA., Zaug AJ; Department of Biochemistry, University of Colorado Boulder, Boulder, CO 80303, USA; BioFrontiers Institute, University of Colorado Boulder, Boulder, CO 80303, USA; Howard Hughes Medical Institute, University of Colorado Boulder, Boulder, CO 80303, USA., Dilgen TC; Laboratory of Cell Biology and Genetics, The Rockefeller University, New York, NY 10065, USA., Cech TR; Department of Biochemistry, University of Colorado Boulder, Boulder, CO 80303, USA; BioFrontiers Institute, University of Colorado Boulder, Boulder, CO 80303, USA; Howard Hughes Medical Institute, University of Colorado Boulder, Boulder, CO 80303, USA., Walz T; Laboratory of Molecular Electron Microscopy, The Rockefeller University, New York, NY 10065, USA. Electronic address: twalz@rockefeller.edu., de Lange T; Laboratory of Cell Biology and Genetics, The Rockefeller University, New York, NY 10065, USA. Electronic address: delange@rockefeller.edu.

المصدر: Cell [Cell] 2024 Jul 11; Vol. 187 (14), pp. 3638-3651.e18. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: DNA Polymerase I*/metabolism , Shelterin Complex*/metabolism , Telomere*/metabolism , Telomere-Binding Proteins*/metabolism, Humans ; Cryoelectron Microscopy ; DNA Primase/metabolism ; DNA Primase/genetics ; Models, Molecular ; Phosphorylation ; Telomerase/metabolism

المؤلفون: Legrand C; Genetic Service, Department of Genetics and Procreation, CHU Grenoble Alpes, Grenoble, France., Peysselon M; Genetic Service, Department of Genetics and Procreation, CHU Grenoble Alpes, Grenoble, France., Bidart M; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, Grenoble, France.; GCS AURAGEN, Lyon, France., Bouras A; GCS AURAGEN, Lyon, France.; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Lyon, France.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Jul; Vol. 71 (7), pp. e31054. Date of Electronic Publication: 2024 May 05.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Neuroblastoma*/genetics , Neuroblastoma*/pathology , Germ-Line Mutation* , Telomere-Binding Proteins*/genetics , Shelterin Complex*, Humans ; Male ; Female ; Infant

المؤلفون: DeBoy EA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Nicosia AM; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Liyanarachchi S; Department of Molecular Medicine and Therapeutics, Columbus, OH, USA., Iyer SS; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shah MH; Department of Internal Medicine, Columbus, OH, USA; The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA., Ringel MD; Department of Molecular Medicine and Therapeutics, Columbus, OH, USA; Department of Internal Medicine, Columbus, OH, USA; The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA., Brock P; Department of Internal Medicine, Columbus, OH, USA; The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA., Armanios M; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: marmani1@jhmi.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1114-1124. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Telomere-Binding Proteins*/genetics , Thyroid Cancer, Papillary*/genetics , Thyroid Cancer, Papillary*/pathology , Shelterin Complex* , Germ-Line Mutation*/genetics , Thyroid Neoplasms*/genetics , Thyroid Neoplasms*/pathology , Genetic Predisposition to Disease* , Telomere Homeostasis*/genetics , Telomere*/genetics, Humans ; Male ; Female ; Middle Aged ; Adult ; Proto-Oncogene Proteins B-raf/genetics ; Aged ; Melanoma/genetics ; Melanoma/pathology ; Pedigree

المؤلفون: Dos Santos GA; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil. Electronic address: arantes_gabriel@hotmail.com., Viana NI; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil; Minas Gerais State University (UEMG), Passos, Minas Gerais, Brazil., Pimenta R; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil; D'Or Institute for Research and Education (IDOR), Sao Paulo, Brazil., de Camargo JA; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Guimaraes VR; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Romão P; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Candido P; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Dos Santos VG; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Ghazarian V; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Reis ST; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil; Minas Gerais State University (UEMG), Passos, Minas Gerais, Brazil., Leite KRM; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Srougi M; Laboratory of Medical Investigation (LIM55), Urology Department, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil; D'Or Institute for Research and Education (IDOR), Sao Paulo, Brazil.

المصدر: Cancer genetics [Cancer Genet] 2024 Jun; Vol. 284-285, pp. 20-29. Date of Electronic Publication: 2024 Mar 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Telomere-Binding Proteins*/genetics , Shelterin Complex* , Prostatic Neoplasms*/genetics , Prostatic Neoplasms*/pathology , Telomere*/genetics , Up-Regulation*, Humans ; Male ; Prognosis ; Gene Expression Regulation, Neoplastic ; Telomeric Repeat Binding Protein 2/genetics ; Telomeric Repeat Binding Protein 2/metabolism ; Biomarkers, Tumor/genetics ; Aged ; Telomere Homeostasis/genetics ; Tripeptidyl-Peptidase 1

المؤلفون: Hinchie AM; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Sanford SL; Environmental and Occupational Health Department, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; University of Pittsburgh Medical Center, Hillman Cancer Center, Pittsburgh, PA, USA., Loughridge KE; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Sutton RM; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Parikh AH; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Gil Silva AA; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Sullivan DI; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Chun-On P; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Morrell MR; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McDyer JF; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Opresko PL; Environmental and Occupational Health Department, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; University of Pittsburgh Medical Center, Hillman Cancer Center, Pittsburgh, PA, USA.; Pharmacology and Chemical Biology Department, University of Pittsburgh, Pittsburgh, PA, USA., Alder JK; Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease, University of Pittsburgh, Pittsburgh, PA, USA. jalder@pitt.edu.; Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Pittsburgh, Pittsburgh, PA, USA. jalder@pitt.edu.

المصدر: Nature communications [Nat Commun] 2024 Jun 01; Vol. 15 (1), pp. 4681. Date of Electronic Publication: 2024 Jun 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Telomere*/metabolism , Telomere*/genetics , Telomere-Binding Proteins*/metabolism , Telomere-Binding Proteins*/genetics , Shelterin Complex*/metabolism , Pedigree* , Telomerase*/genetics , Telomerase*/metabolism, Humans ; Male ; Female ; Telomere Homeostasis/genetics ; Base Sequence ; Adult

المؤلفون: Deb S; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Berei J; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Miliavski E; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Khan MJ; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Broder TJ; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Akurugo TA; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Lund C; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Fleming SE; Department of Pathology, UW Health SwedishAmerican Hospital, Rockford, IL 61107, USA., Hillwig R; Department of Health Sciences Education, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Ross J; Department of Family and Community Medicine, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA., Puri N; Department of Biomedical Sciences, University of Illinois College of Medicine at Rockford, Rockford, IL 61107, USA.

المصدر: Cells [Cells] 2024 May 21; Vol. 13 (11). Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Inflammation*/genetics , Inflammation*/pathology , Aging*/genetics , Telomeric Repeat Binding Protein 2*/metabolism , Telomeric Repeat Binding Protein 2*/genetics , Shelterin Complex* , Cytokines*/metabolism , Telomere*/metabolism , Telomerase*/metabolism , Telomerase*/genetics , Smoking*/adverse effects, Humans ; Ubiquitins/metabolism ; Ubiquitins/genetics ; Telomere-Binding Proteins/metabolism ; Telomere-Binding Proteins/genetics ; Interferon-gamma/metabolism ; Telomere Homeostasis ; Male ; Telomere Shortening ; Female ; Middle Aged

المؤلفون: Wang QL; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, United States of America., Gong C; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China.; Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Meng XY; Health Science Center, Hubei Minzu University, Enshi, China., Fu M; Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Yang H; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China., Zhou F; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China., Wu Q; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China., Zhou Y; Department of Radiation and Medical Oncology, Hubei Key Laboratory of Tumor Biological Behaviors, Zhongnan Hospital of Wuhan University, Hubei Cancer Clinical Study Center, Wuhan, Hubei, China.

المصدر: PloS one [PLoS One] 2024 May 09; Vol. 19 (5), pp. e0298118. Date of Electronic Publication: 2024 May 09 (Print Publication: 2024).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Shelterin Complex* , Telomerase*/genetics , Telomerase*/metabolism , Telomere-Binding Proteins*/metabolism , Telomere-Binding Proteins*/genetics , Uterine Cervical Dysplasia*/genetics , Uterine Cervical Dysplasia*/pathology , Uterine Cervical Dysplasia*/metabolism , Uterine Cervical Dysplasia*/mortality , Uterine Cervical Neoplasms*/genetics , Uterine Cervical Neoplasms*/pathology , Uterine Cervical Neoplasms*/mortality , Uterine Cervical Neoplasms*/metabolism, Adult ; Female ; Humans ; Middle Aged ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic

المؤلفون: Bertrand A; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France., Ba I; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France.; Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris 75018, France., Kermasson L; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France., Pirabakaran V; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France., Chable N; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France., Lainey E; Hematology Laboratory, Robert Debré Hospital-AssistancePublique-Hôpitaux de Paris (APHP), INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris 75019, France., Ménard C; Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris 75018, France., Kallel F; Hematology Department, Hedi Chaker Hospital, 3029, Sfax, Tunisia., Picard C; Université Paris Cité, Imagine Institute, Paris 75015, France.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, (APHP), Paris 75015, France.; Centre de références des déficits immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital APHP, Paris 75015, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Inserm UMR 1163, Institut Imagine, Paris 75015, France., Hadiji S; Hematology Department, Hedi Chaker Hospital, 3029, Sfax, Tunisia., Coolen-Allou N; Service de Pneumologie, Hôpital Félix Guyon, CHU Réunion, Saint-Denis de la Réunion 97400, France., Blanchard E; Service de Pneumologie, Hôpital Haut-Lévêque, CHU Bordeaux, Bordeaux 33604, France., de Villartay JP; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France., Moshous D; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, (APHP), Paris 75015, France., Roelens M; Université Paris Cité, Imagine Institute, Paris 75015, France.; Centre de références des déficits immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital APHP, Paris 75015, France., Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris 75005, France., Kannengiesser C; Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris 75018, France., Revy P; Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Imagine Institute, 24 boulevard du Montparnasse, Paris 75015, France.; Université Paris Cité, Imagine Institute, Paris 75015, France.

المصدر: Human molecular genetics [Hum Mol Genet] 2024 Mar 20; Vol. 33 (7), pp. 612-623.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Shelterin Complex*/genetics , Telomerase*/genetics , Telomere-Binding Proteins*/genetics , Telomere-Binding Proteins*/metabolism, Humans ; Biology ; Mutation ; Telomere/genetics ; Telomere/metabolism