Publications:

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

Publication Date: 2021-05

Variant appearance in text: FAT1: R3087G

PubMed Link: 34013115

Variant Present in the following documents:

• main.pdf

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Role of Rho GTPase Interacting Proteins in Subcellular Compartments of Podocytes.

International Journal Of Molecular Sciences

Asano-Matsuda, Kana K; Ibrahim, Sajida S; Takano, Tomoko T; Matsuda, Jun J

Publication Date: 2021-04-01

Variant appearance in text: FAT1: R3087G

PubMed Link: 33915776

Variant Present in the following documents:

• Main text

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FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.

Cen Case Reports

Rossanti, Rini R; Watanabe, Toshio T; Nagano, China C; Hara, Shigeo S; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Sakakibara, Nana N; Ninchoji, Takeshi T; Iijima, Kazumoto K; Nozu, Kandai K

Publication Date: 2021-02

Variant appearance in text: FAT1: R3087G; rs375998390

PubMed Link: 32902815

Variant Present in the following documents:

• Main text

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Nature Communications

Lahrouchi, Najim N; George, Aman A; Ratbi, Ilham I; Schneider, Ronen R; Elalaoui, Siham C SC; Moosa, Shahida S; Bharti, Sanita S; Sharma, Ruchi R; Abu-Asab, Mones M; Onojafe, Felix F; Adadi, Najlae N; Lodder, Elisabeth M EM; Laarabi, Fatima-Zahra FZ; Lamsyah, Yassine Y; Elorch, Hamza H; Chebbar, Imane I; Postma, Alex V AV; Lougaris, Vassilios V; Plebani, Alessandro A; Altmueller, Janine J; Kyrieleis, Henriette H; Meiner, Vardiella V; McNeill, Helen H; Bharti, Kapil K; Lyonnet, Stanislas S; Wollnik, Bernd B; Henrion-Caude, Alexandra A; Berraho, Amina A; Hildebrandt, Friedhelm F; Bezzina, Connie R CR; Brooks, Brian P BP; Sefiani, Abdelaziz A

Publication Date: 2019-03-12

Variant appearance in text: FAT1: R3087G

PubMed Link: 30862798

Variant Present in the following documents:

• 41467_2019_Article_8547.pdf

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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: 9259C>G; R3087G; rs375998390

PubMed Link: 26905694

Variant Present in the following documents:

• Main text
• ncomms10822.pdf

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