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Page 1
Ciliary Dyneins and Dynein Related Ciliopathies.
Antony D, Brunner HG, Schmidts M. Antony D, et al. Cells. 2021 Jul 25;10(8):1885. doi: 10.3390/cells10081885. Cells. 2021. PMID: 34440654 Free PMC article. Review.
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.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Sanderson LE, et al. Among authors: antony d. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. Brain. 2021. PMID: 33764426 Free PMC article.
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.
Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
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. Update in: Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032 PMID: 36993625 Free PMC article. Updated. Preprint.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Loges NT, et al. Among authors: antony d. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471718 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
67 results