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Page 1
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: antony d. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. Among authors: antony d. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 Free PMC article.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: antony d. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. PMID: 36865301 Free PMC article. Updated. Preprint.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: antony d. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. PMID: 36993625 Free PMC article. Updated. Preprint.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: antony d. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
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