Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Kidney International Reports
Fabretti, Francesca F; Tschernoster, Nikolai N; Erger, Florian F; Hedergott, Andrea A; Buescher, Anja K AK; Dafinger, Claudia C; Reusch, Bjoern B; Köntges, Vincent K VK; Kohl, Stefan S; Bartram, Malte P MP; Weber, Lutz Thorsten LT; Thiele, Holger H; Altmueller, Janine J; Schermer, Bernhard B; Beck, Bodo B BB; Habbig, Sandra S
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Plos One
Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR
Publication Date: 2019
Variant appearance in text: FAT1: 5671C>A; Pro1891Thr
FAT1 mutations cause a glomerulotubular nephropathy.
Nature Communications
Gee, Heon Yung HY; Sadowski, Carolin E CE; Aggarwal, Pardeep K PK; Porath, Jonathan D JD; Yakulov, Toma A TA; Schueler, Markus M; Lovric, Svjetlana S; Ashraf, Shazia S; Braun, Daniela A DA; Halbritter, Jan J; Fang, Humphrey H; Airik, Rannar R; Vega-Warner, Virginia V; Cho, Kyeong Jee KJ; Chan, Timothy A TA; Morris, Luc G T LG; ffrench-Constant, Charles C; Allen, Nicholas N; McNeill, Helen H; Büscher, Rainer R; Kyrieleis, Henriette H; Wallot, Michael M; Gaspert, Ariana A; Kistler, Thomas T; Milford, David V DV; Saleem, Moin A MA; Keng, Wee Teik WT; Alexander, Stephen I SI; Valentini, Rudolph P RP; Licht, Christoph C; Teh, Jun C JC; Bogdanovic, Radovan R; Koziell, Ania A; Bierzynska, Agnieszka A; Soliman, Neveen A NA; Otto, Edgar A EA; Lifton, Richard P RP; Holzman, Lawrence B LB; Sibinga, Nicholas E S NE; Walz, Gerd G; Tufro, Alda A; Hildebrandt, Friedhelm F
Publication Date: 2016-02-24
Variant appearance in text: FAT1: 5671C>A; P1891T; rs185078412