Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

245 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: amselem s. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M. Thomas L, et al. Among authors: amselem s. J Med Genet. 2024 May 21;61(6):595-604. doi: 10.1136/jmg-2023-109700. J Med Genet. 2024. PMID: 38408845
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N. Desroziers T, et al. Among authors: amselem s. Eur J Hum Genet. 2023 Sep;31(9):1083-1087. doi: 10.1038/s41431-023-01413-w. Epub 2023 Jun 28. Eur J Hum Genet. 2023. PMID: 37380697 Free article.
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
Diesler R, Legendre M, Si-Mohamed S, Brillet PY, Wemeau L, Manali ED, Gagnadoux F, Hirschi S, Lorillon G, Reynaud-Gaubert M, Bironneau V, Blanchard E, Bourdin A, Dominique S, Justet A, Macey J, Marchand-Adam S, Morisse-Pradier H, Nunes H, Papiris SA, Traclet J, Traore I, Crestani B, Amselem S, Nathan N, Borie R, Cottin V; OrphaLung network. Diesler R, et al. Among authors: amselem s. Respirology. 2024 Apr;29(4):312-323. doi: 10.1111/resp.14667. Epub 2024 Feb 12. Respirology. 2024. PMID: 38345107 Free article.
High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Théou-Anton N, Kannengiesser C, Ba I, Debray MP, Fanen P, Manali E, Papiris S, Nathan N, Amselem S, Gondouin A, Guillaumot A, Andréjak C, Jouneau S, Beltramo G, Uzunhan Y, Galodé F, Westeel V, Mehdaoui A, Hirschi S, Leroy S, Marchand-Adam S, Nunes H, Picard C, Prévot G, Reynaud-Gaubert M, De Vuyst P, Wemeau L, Defossez G, Zalcman G, Cottin V, Borie R; OrphaLung network. Brudon A, et al. Among authors: amselem s. Eur Respir J. 2024 May 2;63(5):2301809. doi: 10.1183/13993003.01809-2023. Print 2024 May. Eur Respir J. 2024. PMID: 38575158 Free PMC article.
Amorphous calcium carbonate enhances osteogenic differentiation and myotube formation of human bone marrow derived mesenchymal stem cells and primary skeletal muscle cells under microgravity conditions.
Ecker Cohen O, Neuman S, Natan Y, Levy A, Blum YD, Amselem S, Bavli D, Ben Y. Ecker Cohen O, et al. Among authors: amselem s. Life Sci Space Res (Amst). 2024 May;41:146-157. doi: 10.1016/j.lssr.2024.02.007. Epub 2024 Mar 3. Life Sci Space Res (Amst). 2024. PMID: 38670641 Free article.
The Effect of Outer Space and Other Environmental Cues on Bacterial Conjugation.
Piscon B, Pia Esposito E, Fichtman B, Samburski G, Efremushkin L, Amselem S, Harel A, Rahav G, Zarrilli R, Gal-Mor O. Piscon B, et al. Among authors: amselem s. Microbiol Spectr. 2023 Jun 15;11(3):e0368822. doi: 10.1128/spectrum.03688-22. Epub 2023 Mar 30. Microbiol Spectr. 2023. PMID: 36995224 Free PMC article.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Louvrier C, El Khouri E, Grall Lerosey M, Quartier P, Guerrot AM, Bader Meunier B, Chican J, Mohammad M, Assrawi E, Daskalopoulou A, Arenas Garcia A, Copin B, Piterboth W, Dastot Le Moal F, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: amselem s. Arthritis Rheumatol. 2023 Mar;75(3):468-474. doi: 10.1002/art.42354. Epub 2022 Dec 28. Arthritis Rheumatol. 2023. PMID: 36122175
245 results