المؤلفون: Jönsson, Åsa Lina M., Hilberg, Ole, Simonsen, Ulf, Christensen, Jane Hvarregaard, Bendstrup, Elisabeth

المصدر: Jönsson , Å L M , Hilberg , O , Simonsen , U , Christensen , J H & Bendstrup , E 2023 , ' New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis : a systematic review ' , Orphanet Journal of Rare Diseases , vol. 18 , 130 . https://doi.org/10.1186/s13023-023-02712-7Test

مصطلحات موضوعية: Genetic diseases, Inborn, Interstitial lung disease, Pulmonary alveolar microlithiasis, Pulmonary calcification, SLC34A2, SLC34A2 mutations, SLC34A2 variants, Solute carrier family 34 (sodium phosphate), member 2 protein, human, Frameshift Mutation, Humans, Lung, Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics, Lung Diseases/genetics, Pulmonary Alveoli/metabolism, Inborn/genetics, Calcinosis/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/e7c00633-c8ef-4488-9670-59438565483fTest

الإتاحة: https://doi.org/10.1186/s13023-023-02712-7Test
https://portal.findresearcher.sdu.dk/da/publications/e7c00633-c8ef-4488-9670-59438565483fTest
https://findresearcher.sdu.dk/ws/files/232854020/Open_Access_Version.pdfTest

المؤلفون: Jönsson, Åsa Lina M., Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A.

المصدر: Jönsson , Å L M , Hernando , N , Knöpfel , T , Mogensen , S , Bendstrup , E , Hilberg , O , Christensen , J H , Simonsen , U & Wagner , C A 2022 , ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ' , Human Genomics , vol. 16 , no. 1 , 13 . https://doi.org/10.1186/s40246-022-00387-yTest

مصطلحات موضوعية: In-frame deletion, frameshift variant, nonsense variant, Pulmonary alveolar microlithiasis (PAM), SLC34A2, SLC34A2 mutations, SLC34A2 variants, Sodium-dependent phosphate transport protein 2B, NaPi-2b, NaPi-IIb, Xenopus laevis oocytes, Phosphates, Frameshift Mutation, Humans, Genetic Diseases, Inborn, Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics, Lung Diseases/genetics, Calcinosis

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s40246-022-00387-yTest
https://pure.au.dk/portal/da/publications/impaired-phosphate-transport-in-slc34a2-variants-in-patients-with-pulmonary-alveolar-microlithiasisTest(f5caaef1-cbef-4da0-b937-e8070d0ce26d).html
https://pure.au.dk/ws/files/329825446/s40246_022_00387_y.pdfTest
http://www.scopus.com/inward/record.url?scp=85128449479&partnerID=8YFLogxKTest

المؤلفون: Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel

المصدر: http://lobid.org/resources/99370671251406441Test#!, 140(10):1459-1469.

مصطلحات موضوعية: Female [MeSH], Lung/abnormalities [MeSH], Organogenesis/genetics [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Fetus [MeSH], Humans [MeSH], Molecular Medicine, Evolution, Molecular [MeSH], Genome, Human [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Lung Diseases/genetics [MeSH], Gene Function, Cadaver [MeSH], Lung/growth, Genetic Variation [MeSH], Pregnancy [MeSH], Lung/ultrastructure [MeSH], Human Genetics

العلاقة: https://repository.publisso.de/resource/frl:6446828Test; https://doi.org/10.1007/s00439-021-02344-6Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539Test/

الإتاحة: https://doi.org/10.1007/s00439-021-02344-6Test
https://repository.publisso.de/resource/frl:6446828Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539Test/

المؤلفون: Everaerts, Stephanie, Lammertyn, Elise J, Martens, Dries S, De Sadeleer, Laurens J, Maes, Karen, van Batenburg, Aernoud A, Goldschmeding, Roel, van Moorsel, Coline H M, Dupont, Lieven J, Wuyts, Wim A, Vos, Robin, Gayan-Ramirez, Ghislaine, Kaminski, Naftali, Hogg, James C, Janssens, Wim, Verleden, Geert M, Nawrot, Tim S, Verleden, Stijn E, McDonough, John E, Vanaudenaerde, Bart M

المساهمون: Pathologie Groep Goldschmeding, Pathologie Pathologen staf, Circulatory Health

مصطلحات موضوعية: BOS, Cellular senescence, Chronic hypersensitivity pneumonitis, Chronic lungallograft dysfunction, Chronic obstructive pulmonary disease, Cystic fibrosis, Lung Diseases/genetics, Male, Middle Aged, RAS, Telomere Shortening/physiology, Telomere length, Young Adult, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/374594Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/374594Test

المؤلفون: Jönsson, Åsa Lina M, Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A

المساهمون: University of Zurich, Jönsson, Åsa Lina M

المصدر: Jönsson, Å L M, Hernando, N, Knöpfel, T, Mogensen, S, Bendstrup, E, Hilberg, O, Christensen, J H, Simonsen, U & Wagner, C A 2022, ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ', Human Genomics, vol. 16, 13 . https://doi.org/10.1186/s40246-022-00387-yTest
Jönsson, Å L M, Hernando, N, Knöpfel, T, Mogensen, S, Bendstrup, E, Hilberg, O, Christensen, J H, Simonsen, U & Wagner, C A 2022, ' Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis ', Human Genomics, vol. 16, no. 1, 13 . https://doi.org/10.1186/s40246-022-00387-yTest

مصطلحات موضوعية: Lung Diseases, SLC34A2 variants, In-frame deletion, frameshift variant, nonsense variant, 610 Medicine & health, Sodium-dependent phosphate transport protein 2B, NaPi-IIb, Sodium-Phosphate Cotransporter Proteins, Type IIb, 10052 Institute of Physiology, Phosphates, Lung Diseases/genetics, 1311 Genetics, Drug Discovery, 1312 Molecular Biology, Genetics, Humans, Frameshift Mutation, Molecular Biology, 3002 Drug Discovery, Genetic Diseases, Inborn, Calcinosis, SLC34A2 mutations, Pulmonary alveolar microlithiasis (PAM), Sodium-Phosphate Cotransporter Proteins, Type IIb/genetics, 1313 Molecular Medicine, 570 Life sciences, biology, Molecular Medicine, Sodium-dependent phosphate transport protein 2B, NaPi-2b, Xenopus laevis oocytes, SLC34A2

وصف الملف: Accepted_manuscript_for_resubmission_final_27.2.2022.pdf - application/pdf; 40246_2022_Article_387.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609fe67bd0e55311c496ecb7859f018bTest
https://pubmed.ncbi.nlm.nih.gov/35443721Test

المؤلفون: Yim, Jae-Joon, Kim, Hee Jung, Kwon, O Jung, Koh, Won-Jung

المساهمون: 임재준, 김희중, 권오중, 고원중

مصطلحات موضوعية: Adult, Aged, 80 and over, Alleles, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Korea/epidemiology, Lung Diseases/*genetics/microbiology, Male, Middle Aged, Mycobacterium Infections, Atypical/epidemiology/*genetics/microbiology, Mycobacterium avium Complex, Mycobacterium avium-intracellulare, Infection/epidemiology/*genetics/microbiology, Polymorphism, Genetic, Toll-Like Receptor 2/*genetics, Microsatellite Repeats

العلاقة: Hum Immunol. 2008 ;69(9):572-6.; 0198-8859 (Print); https://hdl.handle.net/10371/62221Test

الإتاحة: https://doi.org/10.1016/j.humimm.2008.06.003Test
https://hdl.handle.net/10371/62221Test

المؤلفون: Heather A. Hartman, Nicholas J. Ahn, Deepthi Alapati, Kiran Musunuru, Jeremy Katzen, Avery C. Rossidis, Hiaying Li, Michael F. Beers, Edward E. Morrisey, Yaniv Tomer, William J. Zacharias, William H. Peranteau, Su Zhou, Barbara E. Coons, Kshitiz Singh, John D. Stratigis, Alexandra C. Chadwick

المساهمون: Faculty of Medicine and Pharmacy, Basic (bio-) Medical Sciences

مصطلحات موضوعية: mice, Mutation/genetics, Pulmonary Surfactant-Associated Protein C/genetics, Mutant, medicine.disease_cause, Article, Lung Diseases/genetics, Genome editing, Medicine, Animals, Humans, Gene, Gene Editing/methods, Fetus, Mutation, Lung, business.industry, Interstitial lung disease, CRISPR-Cas Systems/genetics, General Medicine, respiratory system, medicine.disease, Epithelial Cells/metabolism, Disease Models, Animal, medicine.anatomical_structure, In utero, Cancer research, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f962fe89ad5ef2b700d153b5cdf19ac9Test
https://europepmc.org/articles/PMC6822403Test/

المؤلفون: Elise Lammertyn, Robin Vos, Wim A. Wuyts, Bart M. Vanaudenaerde, Naftali Kaminski, Laurens J. De Sadeleer, Karen Maes, Stijn E. Verleden, John E. McDonough, Roel Goldschmeding, Tim S. Nawrot, Coline H.M. van Moorsel, Geert Verleden, Ghislaine Gayan-Ramirez, Lieven Dupont, Stephanie Everaerts, James C. Hogg, Aernoud A. van Batenburg, Dries S. Martens, Wim Janssens

المصدر: Respiratory Research, Vol 19, Iss 1, Pp 1-10 (2018)
Respiratory Research
Respiratory research, 19(1). BioMed Central
Respiratory research

مصطلحات موضوعية: 0301 basic medicine, Lung Diseases, Male, Pathology, Health Status, Autopsy, Cystic fibrosis, Lung Diseases/genetics, BOS, Child, Non-U.S. Gov't, Lung, Telomere Shortening, COPD, Research Support, Non-U.S. Gov't, Chronic obstructive pulmonary disease, Chronic lung allograft dysfunction, respiratory system, Middle Aged, 3. Good health, medicine.anatomical_structure, Telomere Shortening/physiology, Female, Hypersensitivity pneumonitis, Adult, medicine.medical_specialty, Chronic lungallograft dysfunction, Adolescent, Bronchiolitis obliterans, Cellular senescence, Research Support, 03 medical and health sciences, Young Adult, cystic fibrosis, chronic obstructive pulmonary disease, chronic hypersensitivity pneumonitis, chronic lung allograft dysfunction, RAS, cellular senescence, telomere length, medicine, Journal Article, Humans, Aged, lcsh:RC705-779, Telomere length, business.industry, Research, lcsh:Diseases of the respiratory system, medicine.disease, Telomere, respiratory tract diseases, Transplantation, 030104 developmental biology, Chronic hypersensitivity pneumonitis, Human medicine, business

وصف الملف: Electronic; image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0007d2ddaf312b066b5864f83d610984Test
https://hdl.handle.net/1874/374594Test

المؤلفون: Rossing, Maria, Albrechtsen, Anders, Skytte, Anne-Bine, Jensen, Uffe B, Ousager, Lilian B, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO

المصدر: Rossing , M , Albrechtsen , A , Skytte , A-B , Jensen , U B , Ousager , L B , Gerdes , A-M , Nielsen , F C & Hansen , T VO 2017 , ' Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation ' , Journal of Human Genetics , vol. 62 , no. 2 , 62 , pp. 151-157 . https://doi.org/10.1038/jhg.2016.118Test

مصطلحات موضوعية: CANCER, CLINICAL-FEATURES, FAMILIES, FIBROFOLLICULOMAS, HOGG-DUBE-SYNDROME, IDENTIFICATION, INTRAGENIC DELETIONS, SPLICING SIGNALS, SPONTANEOUS PNEUMOTHORAX, TUMORS, Amino Acid Sequence, Genetic Predisposition to Disease, Genetic Testing, Frameshift Mutation/genetics, Proto-Oncogene Proteins/genetics, Birt-Hogg-Dube Syndrome/genetics, Humans, Lung Diseases/genetics, Polymorphism, Genetic/genetics, Tumor Suppressor Proteins/genetics, Codon, Nonsense/genetics, Denmark, RNA Splicing/genetics

الإتاحة: https://doi.org/10.1038/jhg.2016.118Test
https://pure.au.dk/portal/da/publications/genetic-screening-of-the-flcn-gene-identify-six-novel-variants-and-a-danish-founder-mutationTest(76c540d5-11ba-4745-84ad-b16354715dff).html

المؤلفون: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota

المساهمون: Medical University of Łódź (MUL), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Polish Mother’s Memorial Hospital Research Institute [Lodz] (ICZMP), Duchess Anna Mazowiecka Public Teaching Hospital [Warsaw]

المصدر: Birth Defects Research
Birth Defects Research, Wiley, 2017, 109 (4), pp.251-253. ⟨10.1002/bdra.23465⟩

مصطلحات موضوعية: MESH: Lung Diseases / diagnosis, Lung Diseases, Male, MESH: Respiratory Insufficiency / genetics, MESH: Fatal Outcome, MESH: Gene Expression, MESH: Lung / pathology, Inheritance Patterns, Mutation, Missense, Gene Expression, MESH: Membrane Proteins / genetics, MESH: Anophthalmos / diagnosis, STRA6 gene mutations, MESH: Microphthalmos / diagnosis, MESH: Pregnancy, Fatal Outcome, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, anophthalmia, Humans, Microphthalmos, Abnormalities, Multiple, MESH: Lung Diseases / pathology, Frameshift Mutation, Lung, MESH: Anophthalmos / pathology, MESH: Microphthalmos / pathology, MESH: Respiratory Insufficiency / diagnosis, MESH: Humans, MESH: Lung Diseases / genetics, MESH: Frameshift Mutation, MESH: Lung / abnormalities, Anophthalmos, Infant, Membrane Proteins, MESH: Anophthalmos / genetics, MESH: Abnormalities, Multiple / genetics, MESH: Microphthalmos / genetics, MESH: Infant, MESH: Male, MESH: Mutation, Missense, MESH: Abnormalities, Multiple / diagnosis, MESH: Respiratory Insufficiency / pathology, Matthew-Wood syndrome, MESH: Abnormalities, Multiple / pathology, Female, MESH: Inheritance Patterns, Respiratory Insufficiency, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::800f77e7ed4d0e01ed307d6c52a1d818Test
https://pubmed.ncbi.nlm.nih.gov/28398665Test