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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: thiele h. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: thiele h. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC. Kolvenbach CM, et al. Among authors: thiele h. J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15. J Med Genet. 2023. PMID: 36379543 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: thiele h. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: thiele h. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
Cardiac biomarkers for diagnosing Takotsubo syndrome.
Schweiger V, Di Vece D, Cammann VL, Koleva I, Würdinger M, Gilhofer T, Rajman K, Szawan KA, Niederseer D, Citro R, Vecchione C, Bossone E, Gili S, Neuhaus M, Franke J, Meder B, Jaguszewski M, Noutsias M, Knorr M, Jansen T, D'Ascenzo F, Bruno F, De Filippo O, Stefanini G, Campo G, Wanha W, Roubin SR, Dichtl W, von Lewinski D, Burgdorf C, Kherad B, Tschöpe C, Sarcon A, Shinbane J, Rajan L, Michels G, Pfister R, Cuneo A, Jacobshagen C, Karakas M, Koenig W, Pott A, Meyer P, Roffi M, Banning A, Wolfrum M, Cuculi F, Kobza R, Fischer TA, Vasankari T, Airaksinen KEJ, Napp LC, Dworakowski R, MacCarthy P, Kaiser C, Osswald S, Galiuto L, Chan C, Bridgman P, Beug D, Delmas C, Lairez O, Gilyarova E, Shilova A, Gilyarov M, El-Battrawy I, Akin I, Poledniková K, Toušek P, Winchester DE, Massoomi M, Galuszka J, Ukena C, Poglajen G, Carrilho-Ferreira P, Hauck C, Paolini C, Bilato C, Kobayashi Y, Kato K, Ishibashi I, Himi T, Din J, Al-Shammari A, Prasad A, Rihal CS, Liu K, Schulze PC, Bianco M, Jörg L, Rickli H, Pestana G, Nguyen TH, Böhm M, Maier LS, Pinto FJ, Widimský P, Felix SB, Braun-Dullaeus RC, Rottbauer W, Hasenfuß G, Pieske BM, Schunkert H, Budnik M, Opolski G, Thiele H, Bauersachs J… See abstract for full author list ➔ Schweiger V, et al. Among authors: thiele h. Eur Heart J. 2024 May 8:ehae231. doi: 10.1093/eurheartj/ehae231. Online ahead of print. Eur Heart J. 2024. PMID: 38717630 No abstract available.
Mental health sequelae in survivors of cardiogenic shock complicating myocardial infarction. A population-based cohort study.
Fernando SM, Qureshi D, Talarico R, Vigod SN, McIsaac DI, Sterling LH, van Diepen S, Price S, Di Santo P, Kyeremanteng K, Fan E, Needham DM, Brodie D, Bienvenu OJ, Combes A, Slutsky AS, Scales DC, Herridge MS, Thiele H, Hibbert B, Tanuseputro P, Mathew R. Fernando SM, et al. Among authors: thiele h. Intensive Care Med. 2024 May 2. doi: 10.1007/s00134-024-07399-3. Online ahead of print. Intensive Care Med. 2024. PMID: 38695924
1,630 results