257 related articles for article (PubMed ID: 25557779)
1. Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Ebarasi L; Ashraf S; Bierzynska A; Gee HY; McCarthy HJ; Lovric S; Sadowski CE; Pabst W; Vega-Warner V; Fang H; Koziell A; Simpson MA; Dursun I; Serdaroglu E; Levy S; Saleem MA; Hildebrandt F; Majumdar A
Am J Hum Genet; 2015 Jan; 96(1):153-61. PubMed ID: 25557779
[TBL] [Abstract][Full Text] [Related]
2. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T; Jo T; Yanagihara T; Shimizu A; Mitsui J; Tsuji S; Morishita S; Onai R; Miura K; Kanda S; Kajiho Y; Tsurumi H; Oka A; Hattori M; Harita Y
Pediatr Nephrol; 2017 May; 32(5):801-809. PubMed ID: 27942854
[TBL] [Abstract][Full Text] [Related]
3. Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Gee HY; Ashraf S; Wan X; Vega-Warner V; Esteve-Rudd J; Lovric S; Fang H; Hurd TW; Sadowski CE; Allen SJ; Otto EA; Korkmaz E; Washburn J; Levy S; Williams DS; Bakkaloglu SA; Zolotnitskaya A; Ozaltin F; Zhou W; Hildebrandt F
Am J Hum Genet; 2014 Jun; 94(6):884-90. PubMed ID: 24814193
[TBL] [Abstract][Full Text] [Related]
4. Novel variants in CRB2 targeting the malfunction of slit diaphragm related to focal segmental glomerulosclerosis.
Yang Q; Tang D; Gan C; Bai M; Song X; Jiang W; Li Q; Chen Y; Zhang A; Wang M
Pediatr Nephrol; 2024 Jan; 39(1):149-165. PubMed ID: 37452832
[TBL] [Abstract][Full Text] [Related]
5. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF; Chernin G; Chaki M; Zhou W; Sloan AJ; Ji Z; Xie LX; Salviati L; Hurd TW; Vega-Warner V; Killen PD; Raphael Y; Ashraf S; Ovunc B; Schoeb DS; McLaughlin HM; Airik R; Vlangos CN; Gbadegesin R; Hinkes B; Saisawat P; Trevisson E; Doimo M; Casarin A; Pertegato V; Giorgi G; Prokisch H; Rötig A; Nürnberg G; Becker C; Wang S; Ozaltin F; Topaloglu R; Bakkaloglu A; Bakkaloglu SA; Müller D; Beissert A; Mir S; Berdeli A; Varpizen S; Zenker M; Matejas V; Santos-Ocaña C; Navas P; Kusakabe T; Kispert A; Akman S; Soliman NA; Krick S; Mundel P; Reiser J; Nürnberg P; Clarke CF; Wiggins RC; Faul C; Hildebrandt F
J Clin Invest; 2011 May; 121(5):2013-24. PubMed ID: 21540551
[TBL] [Abstract][Full Text] [Related]
6. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Gee HY; Zhang F; Ashraf S; Kohl S; Sadowski CE; Vega-Warner V; Zhou W; Lovric S; Fang H; Nettleton M; Zhu JY; Hoefele J; Weber LT; Podracka L; Boor A; Fehrenbach H; Innis JW; Washburn J; Levy S; Lifton RP; Otto EA; Han Z; Hildebrandt F
J Clin Invest; 2015 Jun; 125(6):2375-84. PubMed ID: 25961457
[TBL] [Abstract][Full Text] [Related]
7. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Solanki AK; Widmeier E; Arif E; Sharma S; Daga A; Srivastava P; Kwon SH; Hugo H; Nakayama M; Mann N; Majmundar AJ; Tan W; Gee HY; Sadowski CE; Rinat C; Becker-Cohen R; Bergmann C; Rosen S; Somers M; Shril S; Huber TB; Mane S; Hildebrandt F; Nihalani D
Kidney Int; 2019 Oct; 96(4):883-889. PubMed ID: 31472902
[TBL] [Abstract][Full Text] [Related]
8. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S; Gee HY; Woerner S; Xie LX; Vega-Warner V; Lovric S; Fang H; Song X; Cattran DC; Avila-Casado C; Paterson AD; Nitschké P; Bole-Feysot C; Cochat P; Esteve-Rudd J; Haberberger B; Allen SJ; Zhou W; Airik R; Otto EA; Barua M; Al-Hamed MH; Kari JA; Evans J; Bierzynska A; Saleem MA; Böckenhauer D; Kleta R; El Desoky S; Hacihamdioglu DO; Gok F; Washburn J; Wiggins RC; Choi M; Lifton RP; Levy S; Han Z; Salviati L; Prokisch H; Williams DS; Pollak M; Clarke CF; Pei Y; Antignac C; Hildebrandt F
J Clin Invest; 2013 Dec; 123(12):5179-89. PubMed ID: 24270420
[TBL] [Abstract][Full Text] [Related]
9. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A; Kaylor J; Pierce H; Cahr M; DeWard SJ; Schneidman-Duhovny D; Alsadah A; Salem F; Schmajuk G; Mehta L
Am J Hum Genet; 2015 Jan; 96(1):162-9. PubMed ID: 25557780
[TBL] [Abstract][Full Text] [Related]
10.
Bierzynska A; Soderquest K; Dean P; Colby E; Rollason R; Jones C; Inward CD; McCarthy HJ; Simpson MA; Lord GM; Williams M; Welsh GI; Koziell AB; Saleem MA; ;
J Am Soc Nephrol; 2017 May; 28(5):1614-1621. PubMed ID: 27932480
[TBL] [Abstract][Full Text] [Related]
11.
Kampf LL; Schneider R; Gerstner L; Thünauer R; Chen M; Helmstädter M; Amar A; Onuchic-Whitford AC; Loza Munarriz R; Berdeli A; Müller D; Schrezenmeier E; Budde K; Mane S; Laricchia KM; Rehm HL; MacArthur DG; Lifton RP; Walz G; Römer W; Bergmann C; Hildebrandt F; Hermle T
J Am Soc Nephrol; 2019 Dec; 30(12):2338-2353. PubMed ID: 31732614
[TBL] [Abstract][Full Text] [Related]
12. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Gee HY; Saisawat P; Ashraf S; Hurd TW; Vega-Warner V; Fang H; Beck BB; Gribouval O; Zhou W; Diaz KA; Natarajan S; Wiggins RC; Lovric S; Chernin G; Schoeb DS; Ovunc B; Frishberg Y; Soliman NA; Fathy HM; Goebel H; Hoefele J; Weber LT; Innis JW; Faul C; Han Z; Washburn J; Antignac C; Levy S; Otto EA; Hildebrandt F
J Clin Invest; 2013 Aug; 123(8):3243-53. PubMed ID: 23867502
[TBL] [Abstract][Full Text] [Related]
13. Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
Basit S; Al-Edressi HM; Sairafi MH; Hashmi JA; Alharby E; Safar R; Ramzan K
J Nephrol; 2020 Aug; 33(4):763-769. PubMed ID: 31912435
[TBL] [Abstract][Full Text] [Related]
14. Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Watanabe S; Aizawa T; Tsukaguchi H; Tsugawa K; Tsuruga K; Shono A; Nozu K; Iijima K; Joh K; Tanaka H
Nephrology (Carlton); 2018 Jul; 23(7):697-702. PubMed ID: 29473663
[TBL] [Abstract][Full Text] [Related]
15. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A; McCarthy HJ; Soderquest K; Sen ES; Colby E; Ding WY; Nabhan MM; Kerecuk L; Hegde S; Hughes D; Marks S; Feather S; Jones C; Webb NJ; Ognjanovic M; Christian M; Gilbert RD; Sinha MD; Lord GM; Simpson M; Koziell AB; Welsh GI; Saleem MA
Kidney Int; 2017 Apr; 91(4):937-947. PubMed ID: 28117080
[TBL] [Abstract][Full Text] [Related]
16.
Hermle T; Schneider R; Schapiro D; Braun DA; van der Ven AT; Warejko JK; Daga A; Widmeier E; Nakayama M; Jobst-Schwan T; Majmundar AJ; Ashraf S; Rao J; Finn LS; Tasic V; Hernandez JD; Bagga A; Jalalah SM; El Desoky S; Kari JA; Laricchia KM; Lek M; Rehm HL; MacArthur DG; Mane S; Lifton RP; Shril S; Hildebrandt F
J Am Soc Nephrol; 2018 Aug; 29(8):2123-2138. PubMed ID: 29959197
[TBL] [Abstract][Full Text] [Related]
17.
Lu J; Guo YN; Dong LQ
World J Clin Cases; 2021 May; 9(13):3056-3062. PubMed ID: 33969091
[TBL] [Abstract][Full Text] [Related]
18. Crumbs2 Is an Essential Slit Diaphragm Protein of the Renal Filtration Barrier.
Möller-Kerutt A; Rodriguez-Gatica JE; Wacker K; Bhatia R; Siebrasse JP; Boon N; Van Marck V; Boor P; Kubitscheck U; Wijnholds J; Pavenstädt H; Weide T
J Am Soc Nephrol; 2021 May; 32(5):1053-1070. PubMed ID: 33687977
[TBL] [Abstract][Full Text] [Related]
19. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Braun DA; Warejko JK; Ashraf S; Tan W; Daga A; Schneider R; Hermle T; Jobst-Schwan T; Widmeier E; Majmundar AJ; Nakayama M; Schapiro D; Rao J; Schmidt JM; Hoogstraten CA; Hugo H; Bakkaloglu SA; Kari JA; El Desoky S; Daouk G; Mane S; Lifton RP; Shril S; Hildebrandt F
Nephrol Dial Transplant; 2019 Mar; 34(3):485-493. PubMed ID: 29534211
[TBL] [Abstract][Full Text] [Related]
20. A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier.
Ebarasi L; He L; Hultenby K; Takemoto M; Betsholtz C; Tryggvason K; Majumdar A
Dev Biol; 2009 Oct; 334(1):1-9. PubMed ID: 19393641
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]