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Results: 1 to 20 of 45

PubMed Links for Books (Select 1500188)

1.

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC.

Hum Mol Genet. 2012 Apr 15;21(8):1835-47. doi: 10.1093/hmg/ddr615. Epub 2012 Jan 6.

2.

OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.

Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, Levtchenko E, De Leo MG, Polishchuk R, Sandoval L, Marzolo MP, De Matteis MA.

EMBO J. 2011 Oct 4;30(24):4970-85. doi: 10.1038/emboj.2011.354.

3.

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J.

Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10.

PMID:
21031565
4.

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

Lasne D, Baujat G, Mirault T, Lunardi J, Grelac F, Egot M, Salomon R, Bachelot-Loza C.

Br J Haematol. 2010 Sep;150(6):685-8. doi: 10.1111/j.1365-2141.2010.08304.x.

PMID:
20629659
5.

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

Swan LE, Tomasini L, Pirruccello M, Lunardi J, De Camilli P.

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3511-6. doi: 10.1073/pnas.0914658107. Epub 2010 Feb 2.

6.

OCRL1 function in renal epithelial membrane traffic.

Cui S, Guerriero CJ, Szalinski CM, Kinlough CL, Hughey RP, Weisz OA.

Am J Physiol Renal Physiol. 2010 Feb;298(2):F335-45. doi: 10.1152/ajprenal.00453.2009. Epub 2009 Nov 25.

7.

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.

Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F.

Pediatr Nephrol. 2009 Oct;24(10):1967-73. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7.

PMID:
19582483
8.

Dent-2 disease: a mild variant of Lowe syndrome.

Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M.

J Pediatr. 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049.

PMID:
19559295
9.

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ.

Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18.

PMID:
19390221
10.

Function and dysfunction of the PI system in membrane trafficking.

Vicinanza M, D'Angelo G, Di Campli A, De Matteis MA.

EMBO J. 2008 Oct 8;27(19):2457-70. doi: 10.1038/emboj.2008.169. Epub 2008 Sep 11. Review.

11.

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M.

Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14.

12.

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.

McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, De Camilli P.

Biochem Biophys Res Commun. 2008 May 2;369(2):493-9. doi: 10.1016/j.bbrc.2008.02.067. Epub 2008 Feb 26.

13.

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P.

Dev Cell. 2007 Sep;13(3):377-90.

14.

Dent Disease with mutations in OCRL1.

Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ.

Am J Hum Genet. 2005 Feb;76(2):260-7. Epub 2004 Dec 30. Erratum in: Am J Hum Genet. 2007 Sep;81(3):634.

15.

The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin.

Ungewickell A, Ward ME, Ungewickell E, Majerus PW.

Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13501-6. Epub 2004 Sep 7.

16.

Early proximal tubular dysfunction in Lowe's syndrome.

Laube GF, Russell-Eggitt IM, van't Hoff WG.

Arch Dis Child. 2004 May;89(5):479-80.

17.

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

LOWE CU, TERREY M, MacLACHLAN EA.

AMA Am J Dis Child. 1952 Feb;83(2):164-84. No abstract available.

PMID:
14884753
18.

Eruptive vellus hair cysts in a patient with Lowe syndrome.

Nandedkar MA, Minus H, Nandedkar MA.

Pediatr Dermatol. 2004 Jan-Feb;21(1):54-7.

PMID:
14871328
19.

End-stage renal failure in Lowe syndrome.

Tricot L, Yahiaoui Y, Teixeira L, Benabdallah L, Rothschild E, Juquel JP, Satre V, Grünfeld JP, Chauveau D.

Nephrol Dial Transplant. 2003 Sep;18(9):1923-5. No abstract available.

20.

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.

Suchy SF, Nussbaum RL.

Am J Hum Genet. 2002 Dec;71(6):1420-7. Epub 2002 Nov 11.

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