Advances in Chronic Kidney Disease
Volume 13, Issue 2 , Pages 166-173 , April 2006

The Genetic Basis of Human Glomerular Disease

  • Clemens C. Möller

      Affiliations

    • Nephrology Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA
    • ,
  • Martin R. Pollak

      Affiliations

    • Renal Division, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA.
    • ,
  • Jochen Reiser

      Affiliations

    • Nephrology Division, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA
    • Renal Division, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA.
    • Corresponding Author InformationAddress correspondence to Jochen Reiser, MD, PhD, Massachusetts General Hospital, Harvard Medical School, Nephrology Division, MGH-East CNY-149-8230, 149 13th Street, Charlestown, MA 02129.

References 

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  3. Kashtan CE . Familial hematurias (What we know and what we don’t) . Pediatr Nephrol . 2005;20:1027–1035
  4. Pollak MR . Inherited podocytopathies (FSGS and nephrotic syndrome from a genetic viewpoint) . J Am Soc Nephrol . 2002;13:3016–3023
  5. Seri M , Pecci A , Di Bari F , et al.   MYH9-related disease (May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness) . Int J Mol Med . 2005;16:437–441
  6. Lowik MM , Hol FA , Steenbergen EJ , et al.   Mitochondrial tRNALeu (UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis . Nephrol Dial Transplant . 2005;20:336–341
  7. Goldenberg A , Ngoc LH , Thouret MC , et al.   Respiratory chain deficiency presenting as congenital nephrotic syndrome . Pediatr Nephrol . 2005;20:465–469
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  9. Wartiovaara J , Ofverstedt LG , Khoshnoodi J , et al.   Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography . J Clin Invest . 2004;114:1475–1483
  10. Huber TB , Benzing T . The slit diaphragm (A signaling platform to regulate podocyte function) . Curr Opin Nephrol Hypertens . 2005;14:211–216
  11. Reiser J , Polu KR , Moller CC , et al.   TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function . Nat Genet . 2005;37:739–744
  12. Kaltenis P , Schumacher V , Jankauskiene A , et al.   Slow progressive FSGS associated with an F392L WT1 mutation . Pediatr Nephrol . 2004;19:353–356
  13. Orloff MS , Iyengar SK , Winkler CA , et al.   Variants in the Wilms’ tumor gene are associated with focal segmental glomerulosclerosis in the African American population . Physiol Genomics . 2005;21:212–221
  14. Kim JM , Wu H , Green G , et al.   CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility . Science . 2003;300:1298–1300
  15. Winn MP , Conlon PJ , Lynn KL , et al.   A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis . Science . 2005;308:1801–1804
  16. Grunkemeyer JA , Kwoh C , Huber TB , et al.   CD2-associated protein (CD2AP) expression in podocytes rescues lethality of CD2AP deficiency . J Biol Chem . 2005;280:29677–29681
  17. Moeller MJ , Soofi A , Sanden S , et al.   An efficient system for tissue-specific overexpression of transgenes in podocytes in vivo . Am J Renal Physiol . 2005;289:F481–F488

 MRP is supported by grants from the US National Institutes of Health. JR is supported by the KMD Foundation and the KUFA-ASN Research Grant. CCM is supported by a scholarship of the German Academic Exchange Service (DAAD).

PII: S1548-5595(06)00010-3

doi: 10.1053/j.ackd.2006.01.009

Advances in Chronic Kidney Disease
Volume 13, Issue 2 , Pages 166-173 , April 2006

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