Citations for
1FSGS2, TRPC6
TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Riehle M, Büscher AK, Gohlke BO, Kaßmann M, Kolatsi-Joannou M, Bräsen JH, Nagel M, Becker JU, Winyard P, Hoyer PF, Preissner R, Krautwurst D, Gollasch M, Weber S, Harteneck C.
J Am Soc Nephrol Am Soc Nephrol. 2016 Feb 18. pii: ASN.2015030318. [Epub ahead of print] 2016
2FSGS2, TRPC6
A novel TRPC6 mutation in a family with podocytopathy and clinical variability.
Mottl AK, Lu M, Fine CA, Weck KE.
BMC Nephrol 14:104. doi: 10.1186/1471-2369-14-104. 2013
3CD2AP, FSGS2, FSGS3, NPHS3, PLCE1, SRN3, TRPC6
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
Machuca E, Benoit G, Antignac C.
Hum Mol Genet 18(R2):R185-94. Review.PMID: 19808795 2009
4TRPC6, FSGS2
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB.
Science 308(5729):1801-4. Epub 2005 May 5. 2005
5TRPC6, FSGS2
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
Reiser J, Polu KR, Moller CC, Kenlan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR.
Nat Genet 37(7):739-44. Epub 2005 May 27. 2005
6FSGS2, TRPC6
TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
Kriz W.
Trends Mol Med 11(12):527-30. Epub 2005 Nov 11. Review. 2005
7FSGS2
Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.
Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A.
J Am Soc Nephrol 14(7):1794-803. 2003
8FSGS2
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
Winn MP, et al.
Genomics 58(2):113-20. 1999