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Wyszukujesz frazę ""Dyskeratosis congenita"" wg kryterium: Temat


Tytuł:
Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita.
Autorzy:
Güllülü Ö; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Mayer BE; Computational Biology & Simulation, Technische Universität Darmstadt, 64287 Darmstadt, Germany.
Toplek FB; Dipartimento di Bioscienze, Università degli Studi di Milano, 20133 Milano, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 28; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 28.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/pathology
Telomerase*/metabolism
Pancytopenia*
Humans ; Bone Marrow Failure Disorders ; Mutation ; Telomere/metabolism ; Genomic Instability
Czasopismo naukowe
Tytuł:
CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response.
Autorzy:
Westin ER; Department of Pediatrics, Division of Hematology Oncology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Department of Cancer Precision Medicine, Pennington Biomedical Research Center, Louisiana State University, Baton Rouge, LA 70808, USA.
Khodadadi-Jamayran A; Genome Technology Center, Applied Bioinformatics Laboratories, NYU Langone Medical Center, New York, NY 10016, USA.
Pham LK; Department of Pediatrics, Division of Hematology Oncology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Tung ML; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa, Iowa City, IA 52242, USA.
Goldman FD; Department of Pediatrics, Division of Hematology Oncology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2023 Nov 01; Vol. 13 (11).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/metabolism
Telomerase*/genetics
Telomerase*/metabolism
Humans ; Reactive Oxygen Species/metabolism ; Tumor Suppressor Protein p53/genetics ; Mutation ; Telomere/genetics ; Telomere/metabolism ; RNA, Small Interfering/metabolism ; Fibroblasts/metabolism ; Inflammation/genetics ; Mediator Complex/genetics ; CCAAT-Enhancer-Binding Protein-beta/genetics ; CCAAT-Enhancer-Binding Protein-beta/metabolism
Czasopismo naukowe
Tytuł:
A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.
Autorzy:
Liu XY; School of Life and Health Sciences, Huzhou College, Huzhou, 313000, China.; Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Tan Q; State Key Laboratory of Medical Molecular Biology, Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005, China.
Li LX; School of Life and Health Sciences, Huzhou College, Huzhou, 313000, China. .
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Źródło:
Hereditas [Hereditas] 2023 Dec 11; Vol. 160 (1), pp. 38. Date of Electronic Publication: 2023 Dec 11.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/metabolism
Dyskeratosis Congenita*/pathology
Neoplasms*/genetics
Humans ; Prognosis ; Cell Cycle Proteins/genetics ; Biomarkers ; Nuclear Proteins/genetics
Czasopismo naukowe
Tytuł:
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.
Autorzy:
Rakotopare J; Genetics of Tumor Suppression, Institut Curie, CEDEX 05, 75248 Paris, France.; CNRS UMR3244, 75005 Paris, France.; Faculty of Science and Engineering, Sorbonne University, 75005 Paris, France.; Institut Curie, PSL Research University, 75005 Paris, France.
Toledo F; Genetics of Tumor Suppression, Institut Curie, CEDEX 05, 75248 Paris, France.; CNRS UMR3244, 75005 Paris, France.; Faculty of Science and Engineering, Sorbonne University, 75005 Paris, France.; Institut Curie, PSL Research University, 75005 Paris, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 06; Vol. 24 (19). Date of Electronic Publication: 2023 Oct 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Fanconi Anemia*/genetics
Anemia, Diamond-Blackfan*/genetics
Dyskeratosis Congenita*/genetics
Humans ; Animals ; Mice ; Tumor Suppressor Protein p53/genetics ; Bone Marrow Failure Disorders ; Telomere/genetics ; Nuclear Proteins/genetics ; Cell Cycle Proteins/genetics ; Proto-Oncogene Proteins/genetics ; Exodeoxyribonucleases/genetics
Czasopismo naukowe
Tytuł:
The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.
Autorzy:
Kawashima N; Departments of Pediatrics and Cancer Biology, Cleveland Clinic, Cleveland, OH 44195, USA.
Bezzerri V; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Corey SJ; Departments of Pediatrics and Cancer Biology, Cleveland Clinic, Cleveland, OH 44195, USA.
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Źródło:
Biomolecules [Biomolecules] 2023 Aug 16; Vol. 13 (8). Date of Electronic Publication: 2023 Aug 16.
Typ publikacji:
Journal Article; Review; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Cytokines*/genetics
Dyskeratosis Congenita*
Humans ; Congenital Bone Marrow Failure Syndromes/genetics ; Shwachman-Diamond Syndrome/genetics ; Interferon-alpha ; Intracellular Signaling Peptides and Proteins
Czasopismo naukowe
Tytuł:
Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review.
Autorzy:
Geng J; Department of Respiratory and Critical Care Medicine, Peking University Third Hospital, Beijing, People's Republic of People's Republic of China.
Zhao M; Department of Cardiology, Peking University Third Hospital, Beijing, People's Republic of People's Republic of China.
Li Q; Department of Respiratory and Critical Care Medicine, Peking University Third Hospital, Beijing, People's Republic of People's Republic of China.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2022 Dec; Vol. 27 (1), pp. 1041-1045.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Dyskeratosis Congenita*/complications
Dyskeratosis Congenita*/diagnosis
Dyskeratosis Congenita*/therapy
Lymphoma, Non-Hodgkin*
Pancytopenia*/chemically induced
Adult ; Dyspnea ; Female ; Humans ; Leukoplakia, Oral
Czasopismo naukowe
Tytuł:
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Autorzy:
Chianucci B; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Grossi A; Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Dell'Orso G; Hematopoietic Stem Cell Transplant Unit, Department of Hematology and Oncology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Palmisani E; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Lanciotti M; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Terranova P; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Pierri F; Hematopoietic Stem Cell Transplant Unit, Department of Hematology and Oncology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Lupia M; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Arcuri L; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Laurino M; Hematology and Cellular Therapy Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Ceccherini I; Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Beier F; Department of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, 52047 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 53127 Bonn, Germany.
Dufour C; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Fioredda F; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Miano M; Haematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 22; Vol. 23 (23). Date of Electronic Publication: 2022 Nov 22.
Typ publikacji:
Case Reports
MeSH Terms:
Dyskeratosis Congenita*/genetics
Neutropenia*/genetics
Humans ; Telomere ; Exons ; Bone Marrow ; Telomere-Binding Proteins/genetics
Raport
Tytuł:
A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View.
Autorzy:
Amin Guldmann S; Department of Dermatology and Allergy, Copenhagen University Hospital, Herlev and Gentofte, Gentofte Hospitalsvej 1, DK-2900 Hellerup, Denmark. .
Byrjalsen A
Shaker S
Elberling J
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2022 May 10; Vol. 102, pp. adv00710. Date of Electronic Publication: 2022 May 10.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskeratosis Congenita*/diagnosis
Dyskeratosis Congenita*/genetics
Intellectual Disability*
DNA Helicases/genetics ; Humans ; Telomere
Czasopismo naukowe
Tytuł:
Sex differences in telomere length, lifespan, and embryonic dyskerin levels.
Autorzy:
Lansdorp PM; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
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Źródło:
Aging cell [Aging Cell] 2022 May; Vol. 21 (5), pp. e13614. Date of Electronic Publication: 2022 Apr 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/pathology
Telomerase*/genetics
Telomerase*/metabolism
Cell Cycle Proteins/metabolism ; Female ; Humans ; Infant, Newborn ; Longevity/genetics ; Male ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Sex Characteristics ; Telomere/metabolism
Czasopismo naukowe
Tytuł:
Liver Histology in Short Telomere Syndrome: A Case Report and Review of the Literature.
Autorzy:
Bai L; 5228University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Rohrer C; 5228University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Liu Y; 5228University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
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Źródło:
International journal of surgical pathology [Int J Surg Pathol] 2022 May; Vol. 30 (3), pp. 350-355. Date of Electronic Publication: 2021 Oct 29.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Dyskeratosis Congenita*/diagnosis
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/pathology
Liver Diseases*/diagnosis
Liver Diseases*/genetics
Adult ; Growth Disorders ; Humans ; Hypercalcemia ; Inflammation ; Male ; Metabolic Diseases ; Middle Aged ; Mutation ; Nephrocalcinosis ; Telomere/genetics ; Telomere/pathology
SCR Disease Name:
SHORT syndrome
Czasopismo naukowe
Tytuł:
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Autorzy:
Zhang MJ; Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Cao YX; Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Wu HY; Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Li HH; Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
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Źródło:
Brain and behavior [Brain Behav] 2021 May; Vol. 11 (5), pp. e02079. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita*
Brain/diagnostic imaging ; Cell Cycle Proteins/genetics ; Child ; Female ; Fetal Growth Retardation ; Humans ; Intellectual Disability ; Microcephaly ; Mutation ; Neuroimaging ; Nuclear Proteins/genetics ; Retrospective Studies
SCR Disease Name:
Hoyeraal Hreidarsson syndrome
Czasopismo naukowe
Tytuł:
Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1.
Autorzy:
Carrascoso-Rubio C; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Avenida Complutense, 40, 28040, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), 28040, Madrid, Spain.
Zittersteijn HA; Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Avenida Complutense, 40, 28040, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), 28040, Madrid, Spain.
Pintado-Berninches L; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.
Fernández-Varas B; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.
Lozano ML; Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Avenida Complutense, 40, 28040, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), 28040, Madrid, Spain.
Manguan-Garcia C; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.
Sastre L; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.
Bueren JA; Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Avenida Complutense, 40, 28040, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), 28040, Madrid, Spain.
Perona R; Instituto de Investigaciones Biomédicas Alberto Sols (CSIC/UAM), 28029, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain.
Guenechea G; Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Avenida Complutense, 40, 28040, Madrid, Spain. .; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029, Madrid, Spain. .; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), 28040, Madrid, Spain. .
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Źródło:
Stem cell research & therapy [Stem Cell Res Ther] 2021 Jan 29; Vol. 12 (1), pp. 92. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/therapy
Telomerase*/genetics
Telomerase*/metabolism
Animals ; Cell Cycle Proteins/genetics ; Hematopoietic Stem Cells/metabolism ; Humans ; Mice ; Mutation ; Nuclear Proteins/genetics ; Telomere/metabolism
Czasopismo naukowe
Tytuł:
Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.
Autorzy:
Tometten M; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany.
Kirschner M; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany.
Isfort S; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany.
Berres ML; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany.; Department of Internal Medicine III, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Brümmendorf TH; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany.
Beier F; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany. .; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD), Aachen, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Sep 26; Vol. 16 (1), pp. 395. Date of Electronic Publication: 2021 Sep 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita*/genetics
Elasticity Imaging Techniques*
Adult ; Biology ; Humans ; Liver/diagnostic imaging ; Liver Cirrhosis/diagnostic imaging ; Liver Cirrhosis/genetics ; Registries ; Retrospective Studies ; Telomere/genetics
Czasopismo naukowe
Tytuł:
Phylogenetic analysis of Harmonin homology domains.
Autorzy:
Colcombet-Cazenave B; Unité Récepteurs-Canaux, Institut Pasteur, 75015, Paris, France.; Collège Doctoral, Sorbonne Université, 75005, Paris, France.
Druart K; Unité de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France.
Bonnet C; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France.; INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France.
Petit C; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France.; INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France.
Spérandio O; Unité de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France.
Guglielmini J; Hub de Bioinformatique et Biostatistique - Département Biologie Computationnelle, USR 3756 CNRS, Institut Pasteur, Paris, France.
Wolff N; Unité Récepteurs-Canaux, Institut Pasteur, 75015, Paris, France. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2021 Apr 14; Vol. 22 (1), pp. 190. Date of Electronic Publication: 2021 Apr 14.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskeratosis Congenita*
Membrane Proteins*/genetics
Amino Acid Sequence ; Fetal Growth Retardation ; Humans ; Phylogeny
Czasopismo naukowe
Tytuł:
Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
Autorzy:
Vieri M; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Kirschner M; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Tometten M; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Abels A; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Rolles B; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Isfort S; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Panse J; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Brümmendorf TH; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
Beier F; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical School, RWTH Aachen University, 52074 Aachen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 29; Vol. 21 (19). Date of Electronic Publication: 2020 Sep 29.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins/*genetics
Dyskeratosis Congenita/*drug therapy
Hematopoietic Stem Cells/*drug effects
Nuclear Proteins/*genetics
RNA/*genetics
Telomerase/*genetics
Androgens/genetics ; Androgens/pharmacology ; Cell Cycle Proteins/antagonists & inhibitors ; Danazol/pharmacology ; Dyskeratosis Congenita/genetics ; Dyskeratosis Congenita/pathology ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells/enzymology ; Humans ; Mutation/genetics ; Nandrolone/pharmacology ; Nuclear Proteins/antagonists & inhibitors ; Oxymetholone/pharmacology ; Primary Cell Culture ; RNA/antagonists & inhibitors ; Telomerase/antagonists & inhibitors ; Telomere/drug effects ; Telomere/genetics
Czasopismo naukowe
Tytuł:
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Autorzy:
Han E; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Patel NA; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Yannuzzi NA; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Laura DM; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Fan KC; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Negron CI; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
Prakhunhungsit S; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.; Department of Ophthalmology, Siriraj Hospital, Mahidol University , Bangkok, Thailand.
Thorson WL; Department of Human Genetics, Miller School of Medicine, University of Miami , Miami, FL, USA.
Berrocal AM; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Aug; Vol. 41 (4), pp. 363-367. Date of Electronic Publication: 2020 Jun 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
Ataxia/*pathology
Brain Neoplasms/*pathology
Calcinosis/*pathology
Central Nervous System Cysts/*pathology
Dyskeratosis Congenita/*pathology
Leukoencephalopathies/*pathology
Muscle Spasticity/*pathology
Retinal Diseases/*pathology
Seizures/*pathology
Telomere-Binding Proteins/*genetics
Ataxia/complications ; Ataxia/genetics ; Brain Neoplasms/complications ; Brain Neoplasms/genetics ; Calcinosis/complications ; Calcinosis/genetics ; Central Nervous System Cysts/complications ; Central Nervous System Cysts/genetics ; Dyskeratosis Congenita/complications ; Dyskeratosis Congenita/genetics ; Female ; Humans ; Infant ; Leukoencephalopathies/complications ; Leukoencephalopathies/genetics ; Muscle Spasticity/complications ; Muscle Spasticity/genetics ; Prognosis ; Retinal Diseases/complications ; Retinal Diseases/genetics ; Seizures/complications ; Seizures/genetics
SCR Disease Name:
Cerebroretinal Microangiopathy with Calcifications and Cysts
Czasopismo naukowe
Tytuł:
TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Autorzy:
Terada K; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.; Department of Hematology, Nippon Medical School, Tokyo, Japan.
Miyake K; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Yamaguchi H; Department of Hematology, Nippon Medical School, Tokyo, Japan.
Miyake N; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Yamanaka K; Department of Hematology, Nippon Medical School, Tokyo, Japan.
Kojima S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Ito E; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Inokuchi K; Department of Hematology, Nippon Medical School, Tokyo, Japan.
Okada T; Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.; Division of Molecular and Medical Genetics, The Institute of Medical Science,The University of Tokyo, Tokyo, Japan.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2020 Jun; Vol. 42 (3), pp. 316-321. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji:
Journal Article
MeSH Terms:
Dyskeratosis Congenita*/genetics
Dyskeratosis Congenita*/metabolism
Mutation*
RNA*/genetics
RNA*/metabolism
Telomerase*/genetics
Telomerase*/metabolism
Telomere*/genetics
Telomere*/metabolism
Cell Line, Tumor ; Humans
Czasopismo naukowe
Tytuł:
Revesz syndrome revisited.
Autorzy:
Karremann M; Department of Pediatrics, University Medical Center Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. .
Neumaier-Probst E; Department of Neuroradiology, University Medical Center Mannheim, Mannheim, Germany.
Schlichtenbrede F; Department of Ophthalmology, University Medical Center Mannheim, Mannheim, Germany.
Beier F; Department of Hematology and Oncology, University Hospital of RWTH Aachen, Aachen, Germany.
Brümmendorf TH; Department of Hematology and Oncology, University Hospital of RWTH Aachen, Aachen, Germany.
Cremer FW; SYNLAB Center for Human Genetics Mannheim, Mannheim, Germany.
Bader P; Department of Pediatrics, Pediatric Stem Cell Transplantation, University Hospital Frankfurt, Frankfurt, Germany.
Dürken M; Department of Pediatrics, University Medical Center Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 23; Vol. 15 (1), pp. 299. Date of Electronic Publication: 2020 Oct 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Dyskeratosis Congenita*/genetics
Bone Diseases, Metabolic ; Bone Marrow/abnormalities ; Child ; Child, Preschool ; Europe ; Humans ; Infant ; Retina
SCR Disease Name:
Revesz Debuse syndrome
Czasopismo naukowe
Tytuł:
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.
Autorzy:
Chen RL; Department of Pediatric Hematology and Oncology, Koo Foundation Sun Yat-Sen Cancer Center, Taipei 11259, Taiwan. .
Lin KK; Institute of Molecular Biology, Academia Sinica, Taipei 11529, Taiwan.
Chen LY; Institute of Molecular Biology, Academia Sinica, Taipei 11529, Taiwan. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Jul 02; Vol. 20 (13). Date of Electronic Publication: 2019 Jul 02.
Typ publikacji:
Case Reports
MeSH Terms:
Peripheral Blood Stem Cell Transplantation*/adverse effects
Peripheral Blood Stem Cell Transplantation*/methods
Cell Cycle Proteins/*genetics
Dyskeratosis Congenita/*therapy
Fetal Growth Retardation/*therapy
Intellectual Disability/*therapy
Microcephaly/*therapy
Nuclear Proteins/*genetics
Child, Preschool ; Dyskeratosis Congenita/complications ; Dyskeratosis Congenita/genetics ; Dyskeratosis Congenita/pathology ; Fetal Growth Retardation/genetics ; Fetal Growth Retardation/pathology ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Microcephaly/complications ; Microcephaly/genetics ; Microcephaly/pathology ; Point Mutation
SCR Disease Name:
Hoyeraal Hreidarsson syndrome
Raport
Tytuł:
Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family.
Autorzy:
He C; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Jing S; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Dai C; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Tu C; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Tan Z; Hunan Guangxiu Hospital, Changsha, China.
Du J; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Lu GX; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.; School of medicine, Hunan Normal University, Changsha, China.
Lin G; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Zeng S; Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.; School of medicine, Hunan Normal University, Changsha, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00709. Date of Electronic Publication: 2019 May 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyskeratosis Congenita/*pathology
Telomerase/*genetics
Telomere/*genetics
Child, Preschool ; Dyskeratosis Congenita/genetics ; Heterozygote ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Protein Structure, Tertiary ; Telomerase/chemistry ; Telomere Homeostasis ; Exome Sequencing
Czasopismo naukowe

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