Inherited cerebrorenal syndromes

被引：0
作者：
Scott J. Schurman
Steven J. Scheinman
机构：
[1] SUNY Upstate Medical University,Departments of Pediatrics and Medicine
[2] SUNY Upstate Medical University,Departments of Medicine
来源：
Nature Reviews Nephrology | 2009年 / 5卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
In this Review, Schurman and Scheinman detail the clinical and genetic features of syndromes with a defined genetic basis that are characterized by the concomitant presence of abnormalities of the central nervous system and kidneys. The authors focus their attention on the oculocerebrorenal syndrome of Lowe and on ciliopathies—particularly Joubert syndrome and Bardet–Biedl syndrome.
引用
收藏
页码：529 / 538
页数：9
相关论文
共 153 条
  • [11] Lowe CU(1995)Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome J. Urol. 153 1244-1246
  • [12] Kenworthy L(2001)Glomerular protein sieving and implications for renal failure in Fanconi syndrome Kidney Int. 60 1885-1892
  • [13] Park T(2004)Eruptive vellus hair cysts in a patient with Lowe syndrome Pediatr. Dermatol. 21 54-57
  • [14] Charnas LR(1983)Arthropathy of Lowe's (oculocerebrorenal) syndrome Arthritis Rheum. 26 728-735
  • [15] Bockenhauer D(1991)The oculocerebrorenal syndrome of Lowe Adv. Pediatr. 38 75-107
  • [16] Kleta R(1992)The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358 239-242
  • [17] Laube GF(2005)Structure and function of the Lowe syndrome protein OCRL1 Traffic 6 711-719
  • [18] Russell-Eggitt IM(2005)Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network Mol. Biol. Cell 16 3467-3479
  • [19] van't Hoff WG(1998)Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice J. Clin. Invest. 101 2042-2053
  • [20] Vilasi A(2007)A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway Dev. Cell 13 377-390
12345678910