المؤلفون: Killian Hurley, Mari Ozaki, Quentin Philippot, Liam Galvin, David Crosby, Mary Kirwan, Deborah R. Gill, Konstantinos-Dionysios Alysandratos, Gisli Jenkins, Matthias Griese, Nadia Nathan, Raphael Borie, Deborah Snijders, Nicolaus Schwerk, Nico Lachmann, Daniel O'Toole

المصدر: EBioMedicine, Vol 104, Iss , Pp 105135- (2024)

مصطلحات موضوعية: Familial pulmonary fibrosis, Interstitial lung disease of genetic cause, precision medicine, Pulmonary fibrosis, Preclinical models, Telomere related gene, Surfactant related gene, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424001701; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/d1a53dcebee04116a10cbbac5081b2fb

المؤلفون: Stefania Cerri, Elisa Manzini, Ottavia Nori, Lucia Pacchetti, Laura Rossi, Maria Turchiano, Anna Valeria Samarelli, Giulia Raineri, Dario Andrisani, Filippo Gozzi, Bianca Beghe, Enrico Clini, Roberto Tonelli

المساهمون: Cerri, Stefania, Manzini, Elisa, Nori, Ottavia, Pacchetti, Lucia, Rossi, Laura, Turchiano, Maria, Samarelli, ANNA VALERIA, Raineri, Giulia, Andrisani, Dario, Gozzi, Filippo, Beghe, Bianca, Clini, Enrico, Tonelli, Roberto

مصطلحات موضوعية: Idiopathic pulmonary fibrosi, interstitial lung disease, familial pulmonary fibrosi, epigenetic, telomere-related gene, surfactant protein, MUC5B polymorphism, TOLLIP, non-coding RNA, DNA methylation, fibrosis pathway, personalized medicine

Relation: volume:60; firstpage:1; lastpage:21; journal:MEDICINA; https://hdl.handle.net/11380/1364253

الاتاحة: https://hdl.handle.net/11380/1364253
https://doi.org/10.3390/medicina60121967
https://www.mdpi.com/1648-9144/60/12/1967

المؤلفون: Klay, Dymph, Kazemier, Karin M, van der Vis, Joanne J, Smits, Hidde M, Grutters, Jan C, van Moorsel, Coline H M

المساهمون: Researchafd. Longtransplantatie, CTI Van Wijk, Longziekten, Infection & Immunity

مصطلحات موضوعية: idiopathic pulmonary fibrosis, lung tissue, RNA expression, RTEL1, SFTPA2, SFTPC, surfactant related gene mutation, telomere related gene mutation, TERT, Catalysis, Molecular Biology, Spectroscopy, Computer Science Applications, Physical and Theoretical Chemistry, Organic Chemistry, Inorganic Chemistry, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/450703

الاتاحة: https://dspace.library.uu.nl/handle/1874/450703

المؤلفون: Dymph Klay, Karin M. Kazemier, Joanne J. van der Vis, Hidde M. Smits, Jan C. Grutters, Coline H. M. van Moorsel

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 23, p 16748 (2023)

مصطلحات موضوعية: idiopathic pulmonary fibrosis, surfactant related gene mutation, telomere related gene mutation, SFTPC, SFTPA2, RTEL1, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/23/16748; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/e66ed0daabf5452896a82e4eb9a95693

الاتاحة: https://doi.org/10.3390/ijms242316748
https://doaj.org/article/e66ed0daabf5452896a82e4eb9a95693

المؤلفون: Papiris, Spyros, Kannengiesser, Caroline, Borie, Raphael, Kolilekas, Lykourgos, Kallieri, Maria, Apollonatou, Vasiliki, Ba, Ibrahima, Nathan, Nadia, Bush, Andrew, Griese, Matthias, Dieude, Philippe, Crestani, Bruno, Manali, Effrosyni

المساهمون: National and Kapodistrian University of Athens (NKUA), Laboratoire de Génétique Moléculaire Hôpital Bichat, AP-HP - Hôpital Bichat - Claude Bernard Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sotiria Thoracic Diseases Hospital Athens, Greece (STDH), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Royal Brompton and Harefield NHS Foundation Trust, Ludwig-Maximilians University Munich (LMU), German Center for Lung Research

المصدر: ISSN: 2075-4418 ; Diagnostics ; https://inserm.hal.science/inserm-04015679 ; Diagnostics, 2022, 12 (12), pp.2928. ⟨10.3390/diagnostics12122928⟩.

مصطلحات موضوعية: interstitial lung disease, idiopathic pulmonary fibrosis, alveolar epithelial cell, short telomere syndrome, surfactant-related gene mutations, telomere-related-gene mutations, single nucleotide polymorphisms, MUC5B, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

Relation: info:eu-repo/semantics/altIdentifier/pmid/36552935; PUBMED: 36552935; PUBMEDCENTRAL: PMC9777433; WOS: 000900565900001

الاتاحة: https://inserm.hal.science/inserm-04015679
https://inserm.hal.science/inserm-04015679v1/document
https://inserm.hal.science/inserm-04015679v1/file/diagnostics-12-02928-v2.pdf
https://doi.org/10.3390/diagnostics12122928

المؤلفون: Spyros A. Papiris, Caroline Kannengiesser, Raphael Borie, Lykourgos Kolilekas, Maria Kallieri, Vasiliki Apollonatou, Ibrahima Ba, Nadia Nathan, Andrew Bush, Matthias Griese, Philippe Dieude, Bruno Crestani, Effrosyni D. Manali

المساهمون: National and Kapodistrian University of Athens (NKUA), Laboratoire de Génétique Moléculaire [Hôpital Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sotiria Thoracic Diseases Hospital [Athens, Greece] (STDH), Centre de référence national pour les maladies respiratoires rares de l’enfant RespiRare [CHU Trousseau], Service de Pneumologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Royal Brompton and Harefield NHS Foundation Trust, Ludwig-Maximilians University [Munich] (LMU), German Center for Lung Research, Couvet, Sandrine

المصدر: Diagnostics
Diagnostics, 2022, 12 (12), pp.2928. ⟨10.3390/diagnostics12122928⟩

مصطلحات موضوعية: interstitial lung disease, surfactant-related gene mutations, telomere-related-gene mutations, single nucleotide polymorphisms, Clinical Biochemistry, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, idiopathic pulmonary fibrosis, alveolar epithelial cell, short telomere syndrome, MUC5B, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a0bb287a0b949e022a814175ef3ae0
https://www.hal.inserm.fr/inserm-04015679/file/diagnostics-12-02928-v2.pdf

المؤلفون: Hiroki Yamaguchi, 山口 博樹

المصدر: 日本医科大学医学会雑誌 / Nihon Ika Daigaku Igakkai Zasshi. 2015, 11(3):136

المؤلفون: Qifei Wu, Jiangtao You, Guangjian Zhang, Xiaomei Yang, Nanzheng Chen, Junke Fu, Yong Zhang, Donghong Geng, Wen Guo, Tianbo Jin, Haijun Li

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, Risk, medicine.medical_specialty, Lung Neoplasms, Single-nucleotide polymorphism, telomere-related gene, Logistic regression, association study, ACYP2, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Asian People, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, China, Lung cancer, Aged, business.industry, Odds ratio, single nucleotide polymorphisms (SNPs), Middle Aged, medicine.disease, Lung cancer susceptibility, Confidence interval, Acid Anhydride Hydrolases, lung cancer, 030104 developmental biology, Logistic Models, 030220 oncology & carcinogenesis, Female, business, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8370da76bd12ac82b0d42a67c672b484
https://pubmed.ncbi.nlm.nih.gov/27974682