Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
B Bembi, A Ferlini, A Caglioti, F Censi, R Zhang, M Salvatore, MC De Stefano, I Bottillo, E Colao, M Neri, E Menegatti, F Sangiuolo, G Novelli, D Taruscio, M Castori, X Zhao, F Brancati, F Brancati, Edgar Otto, P Iatropoulos, N Perrotti, G Floridia, V Vega-Warner, D Roccatello, L Camerota, E Daina
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
D Johnstone, S Eddy, R Lafayette, Laura Mariani, P Flynn, J Blake, F Modersitzki, B Freedman, S Adler, V Chernitskiy, A Froment, L Curtin, M Toledo, B Gillespie, JC Lieske, C Gadegbeku, M Schachere, K Tuttle, J Sedor, J Zee, D Lieb, K Abbott, A Williams, M Hogan, L Whitted, K Yasutake, R Pitter, MT McNulty, D Fermin, K Meyers, T Mainieri, D Gipson, D Cattran, K Grammatikopoulos, C Bidot, A Athavale, CS Wang, Debbie Gipson, L Holzman, E Castro-Rubio, F Kaskel, S Hingorani, S Grubbs, Edgar Otto, V Nair, S Gray, A Jefferson, N Johnson, C Haney, F Fervenza, H Trachtman, K Dell, K Gibson, C Sethna, L Greenbaum, S Vento, P Ling, K Lemley, F Cerecino, P Hoover, S Boynton, M Romano, L Barisoni, T Srivastava, J LaPage, A Neu, M Hladunewich, C Kincaid, G Appel, A Fornoni, A Cooper, N Kumar, O Zhdanova, K Sambandam, Matthias Kretzler, S Li, C Nast, JJ Lin, P Nachman, B Lee, H Reich, E Herreshoff, K Kallem, Rajasree Menon, S Dismuke, J Troost, M Kretzler, Matthew Sampson, Peter Song, E Brown, K Mehta, R Putler, C Lienczewski, CE Gillies, J Kopp
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
SB Walsh, Edgar Otto, DS Konecki, U Lichter-Konecki, V Patel, PJ Oefner, RN Sandford, S Povey, C Laing, J Reinders, R Schmitt, I Tegtmeier, CR Ferreira, C Pugh, G Jaureguiberry, K Renner, RJ Unwin, PS Atwal, WA Gahl, G Charles-Edwards, M Mozere, JR Martins, A Kesselheim, C Broeker, AM Hall, M Kasgharian, DP Gale, CU Choe, C Sterner, K O’Brien, M Reichold, ED Klootwijk, K Dettmer, R Kleta, D Iancu, D Bockenhauer, JM Simbuerger, S Dumitriu, B Davies, H Doellerer, R Warth, D Isbrandt, AJ Howie, S Devi, N Issler, A Cebrian-Serrano, A Hammers, Zhou, M Milani, M Jain, M Tekman, R Witzgall, HC Stanescu, J Wiesner
Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))
G Ardissino, M Bodria, Matthew Sampson, R Westland, V Tasic, A Mitrotti, F Scolari, M Verbitsky, M Gigante, DB Goldstein, V Vega-Warner, M Janezcko, K Kiryluk, DA Fasel, A Latos-Bielenska, L Allegri, N Katsanis, GS Makar, HM Rasouly, I Ionita-Laza, I Pediaditakis, M Zaniew, EE Davis, S Kamalakaran, S Shril, M Saraga, A Materna-Kiryluk, F Hildebrandt, VP Capone, P Krithivasan, K Vukojevic, L Fievet, L Gesualdo, CL Mendelsohn, CE Gillies, AG Gharavi, Edgar Otto, Q Liu, S Mane, V Goj, YJ Na, GM Ghiggeri, RP Lifton, C Izzi, JAE van Wijk, K Khan, S Sanna-Cherchi, J Martino, A Arapovic
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
V Tasic, V Goj, K Kiryluk, GS Makar, L Fievet, S Shril, S Mane, F Hildebrandt, CL Mendelsohn, S Sanna-Cherchi, F Scolari, S Kamalakaran, JAE van Wijk, J Martino, I Pediaditakis, GM Ghiggeri, DB Goldstein, VP Capone, M Verbitsky, AG Gharavi, EE Davis, A Latos-Bielenska, Matthew Sampson, DA Fasel, C Izzi, M Bodria, RP Lifton, M Gigante, M Janezcko, P Krithivasan, I Ionita-Laza, HM Rasouly, CE Gillies, A Materna-Kiryluk, Edgar Otto, A Mitrotti, Q Liu, L Allegri, K Khan, L Gesualdo, YJ Na, M Saraga, R Westland, G Ardissino, N Katsanis, V Vega-Warner, K Vukojevic, A Arapovic, M Zaniew
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
C Wicking, SY Tay, C Bergmann, U Vester, B Whittle, R Tunningley, H Lu, M Hiersche, S Neuber, F Hildebrandt, N Hilger, K Zerres, D Epting, W Hunziker, B Hartleben, PJ Kausalya, GD Wright, AD Courtney, C Kramer, G Kaeslin, MCR Galeano, S Vij, N Ortiz-Brüchle, AC Perkins, V Frank, MH Little, HY Gee, P Papathanasiou, S Roy, E Ott, V Metzis, Edgar Otto, E Wühl
Genetic drivers of kidney defects in the digeorge syndrome
A Latos-Bielenska, M Bodria, A Mitrotti, M Szczepanska, K Kiryluk, M Zaniew, M Werth, S Sanna-Cherchi, N Kunac, D Barton, Z Yan, D Gaillard, E Lopez-Rivera, A Carrea, J Martino, DS Petrey, E Casolari, F Scolari, JAE Van Wijk, GS Makar, SE Racedo, R Salomon, C Jeanpierre, D Cusi, V Tasic, IA Drummond, L Gesualdo, A Materna-Kiryluk, M Saraga, GM Ghiggeri, DA Fasel, A Imamoto, EH Zackai, P Sikora, VE Papaioannou, R Deng, Matthew Sampson, H Flogelova, G Krzemien, Q Liu, AG Gharavi, P Puri, M Saraga-Babic, C Izzi, TB Crowley, NJ Steers, BA Warady, Z Gucev, M Verbitsky, Edgar Otto, A Szmigielska, M Maiorana, CE Gillies, JM Darlow, W Carpentier, JM Barasch, SL Furth, L Heidet, B Honig, A Vivante, A Samii, BE Morrow, DM McDonald-McGinn, BR Anderson, R Westland, VJ Lozanovski, L Allegri, RP Lifton, K Vukojevic, VP Capone, YP Liu, CS Wong, F Hildebrandt, N Katsanis, D Drozdz, H Hakonarson, V Vega-Warner, M Tkaczyk, A Arapovic, M Mizerska-Wasiak, V D'Agati, M Miklaszewska
A Familial Infantile Renal Failure
V Kher, R Raina, V Vega-Warner, P Jha, Matthew Sampson, Edgar Otto, SB Bansal, R Duggal, N Wadhwani, SK Sethi
FAT1 mutations cause a glomerulotubular nephropathy
S Lovric, R Airik, C Licht, H McNeill, A Koziell, A Bierzynska, A Tufro, R Büscher, F Hildebrandt, JC Teh, M Schueler, C Ffrench-Constant, SI Alexander, Edgar Otto, WT Keng, DV Milford, N Allen, TA Yakulov, A Gaspert, H Kyrieleis, DA Braun, HY Gee, T Kistler, K Jee Cho, NA Soliman, R Bogdanovic, MA Saleem, J Halbritter, M Wallot, TA Chan, RP Lifton, LB Holzman, NES Sibinga, V Vega-Warner, H Fang, G Walz, JD Porath, CE Sadowski, PK Aggarwal, S Ashraf, RP Valentini, LGT Morris
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
SA Kumar, H Gremmels, S Bowdin, G van Haaften, L Worgan, RH Giles, J Adkins, KJ Duran, NV Knoers, D Neubauer, N Karp, CR Isabella, IA Glass, GG Slaats, JC Dempsey, DM Knutzen, NJ Mendelsohn, D Doherty, SD Mastroyianni, Edgar Otto, J Vogt, F Hildebrandt, GR Monroe, IG Phelps, HY Kroes, CA Johnson, MA Parisi
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