1 | FSGS2, TRPC6
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| TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
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| 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.
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| J Am Soc Nephrol Am Soc Nephrol. 2016 Feb 18. pii: ASN.2015030318. [Epub ahead of print]
2016
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2 | FSGS2, TRPC6
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| A novel TRPC6 mutation in a family with podocytopathy and clinical variability.
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| Mottl AK, Lu M, Fine CA, Weck KE.
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| BMC Nephrol 14:104. doi: 10.1186/1471-2369-14-104.
2013
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3 | CD2AP, FSGS2, FSGS3, NPHS3, PLCE1, SRN3, TRPC6
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| Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
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| Machuca E, Benoit G, Antignac C.
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| Hum Mol Genet 18(R2):R185-94. Review.PMID: 19808795 2009
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4 | TRPC6, FSGS2
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| A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
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| 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.
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| Science 308(5729):1801-4. Epub 2005 May 5. 2005
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5 | TRPC6, FSGS2
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| TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
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| 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.
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| Nat Genet 37(7):739-44. Epub 2005 May 27. 2005
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6 | FSGS2, TRPC6
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| TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
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| Kriz W.
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| Trends Mol Med 11(12):527-30. Epub 2005 Nov 11. Review. 2005
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7 | FSGS2
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| Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.
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| Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A.
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| J Am Soc Nephrol 14(7):1794-803. 2003
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8 | FSGS2
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| Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
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| Winn MP, et al.
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| Genomics 58(2):113-20. 1999
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