Literature DB >> 1927708

The oculocerebrorenal syndrome of Lowe.

L R Charnas1, W A Gahl.   

Abstract

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Year:  1991        PMID： 1927708

Source DB:  PubMed          Journal:  Adv Pediatr        ISSN： 0065-3101


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  9 in total

1.  OCRL1 modulates cilia length in renal epithelial cells.

Authors:  Youssef Rbaibi; Shanshan Cui; Di Mo; Marcelo Carattino; Rajeev Rohatgi; Lisa M Satlin; Christina M Szalinski; Lisa M Swanhart; Heike Fölsch; Neil A Hukriede; Ora A Weisz
Journal:  Traffic       Date:  2012-07-04       Impact factor: 6.215

2.  Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.

Authors:  Susan P Bothwell; Emily Chan; Isa M Bernardini; Yien-Ming Kuo; William A Gahl; Robert L Nussbaum
Journal:  J Am Soc Nephrol       Date:  2010-12-23       Impact factor: 10.121

Review 3.  RhoGTPase-binding proteins, the exocyst complex and polarized vesicle trafficking.

Authors:  Debarati Mukherjee; Arpita Sen; R Claudio Aguilar
Journal:  Small GTPases       Date:  2014-06-10

4.  Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Authors:  P A Jänne; S F Suchy; D Bernard; M MacDonald; J Crawley; A Grinberg; A Wynshaw-Boris; H Westphal; R L Nussbaum
Journal:  J Clin Invest       Date:  1998-05-15       Impact factor: 14.808

5.  OCRL1 function in renal epithelial membrane traffic.

Authors:  Shanshan Cui; Christopher J Guerriero; Christina M Szalinski; Carol L Kinlough; Rebecca P Hughey; Ora A Weisz
Journal:  Am J Physiol Renal Physiol       Date:  2009-11-25

Review 6.  Inherited cerebrorenal syndromes.

Authors:  Scott J Schurman; Steven J Scheinman
Journal:  Nat Rev Nephrol       Date:  2009-09       Impact factor: 28.314

Review 7.  Phosphoinositides: tiny lipids with giant impact on cell regulation.

Authors:  Tamas Balla
Journal:  Physiol Rev       Date:  2013-07       Impact factor: 37.312

8.  Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

Authors:  Eleni Drosataki; Sevasti Maragkou; Kleio Dermitzaki; Ioanna Stavrakaki; Dimitra Lygerou; Helen Latsoudis; Christos Pleros; Ioannis Petrakis; Ioannis Zaganas; Kostas Stylianou
Journal:  BMC Nephrol       Date:  2022-05-12       Impact factor: 2.585

Review 9.  The oculocerebrorenal syndrome of Lowe: an update.

Authors:  Arend Bökenkamp; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-03-24       Impact factor: 3.714
  9 in total

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