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: 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