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Page 1
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M. Eckl KM, et al. Among authors: plank r. Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021. Front Genet. 2021. PMID: 34322157 Free PMC article.
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC. Lima Cunha D, et al. Among authors: plank r. Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1. Mol Genet Genomic Med. 2019. PMID: 30600594 Free PMC article.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. Ammann S, et al. Among authors: plank r. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7. Blood. 2016. PMID: 26744459 Free PMC article.
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents.
Plank R, Yealland G, Miceli E, Lima Cunha D, Graff P, Thomforde S, Gruber R, Moosbrugger-Martinz V, Eckl K, Calderón M, Hennies HC, Hedtrich S. Plank R, et al. J Invest Dermatol. 2019 May;139(5):1191-1195. doi: 10.1016/j.jid.2018.11.002. Epub 2018 Nov 15. J Invest Dermatol. 2019. PMID: 30448383 Free article. No abstract available.
Safety and Tolerability of Oral Islatravir Once Monthly as Pre-Exposure Prophylaxis in Cisgender Men and Transgender Women Who Have an Elevated Likelihood of HIV-1 Exposure: Results From the IMPOWER-24 Randomized Phase 3 Study.
Landovitz RJ, Pinedo Y, Hinestrosa F, Crofoot GE, Brinson C, Buchbinder S, Molina JM, Gravett RM, Brock JB, Ramgopal MN, Rosengren AL, Ofotokun I, Valdez Madruga J, Liegeon G, Panchia R, Supparatpinyo K, Avihingsanon A, Creticos C, Swaminathan S, Doblecki-Lewis S, Rodriguez J, Siegel M, Oka S, Puthanakit T, Grinsztejn B, Sanders EJ, Lama JR, Lombaard J, Ndlovu N, Hwang P, Du J, Jackson B, Homony B, Evans B, Sklar P, Robertson MN, Plank RM. Landovitz RJ, et al. Among authors: plank rm. Clin Infect Dis. 2026 Mar 14:ciag171. doi: 10.1093/cid/ciag171. Online ahead of print. Clin Infect Dis. 2026. PMID: 41830344
Islatravir distribution in plasma, peripheral blood mononuclear cells, and mucosal tissues after monthly oral dosing.
Hendrix CW, Hillier SL, Bekker LG, Badal-Faesen S, Riddler SA, Marzinke MA, Fuchs EJ, Macdonald P, Edick S, Weld ED, Chavez-Eng CM, Evans B, Zang X, Vargo R, Homony B, Nedrow K, Plank RM, Robertson MN, Wickremasingha P, Patel M. Hendrix CW, et al. Among authors: plank rm. AIDS. 2026 Mar 6. doi: 10.1097/QAD.0000000000004477. Online ahead of print. AIDS. 2026. PMID: 41789892
58 results