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Items: 1 to 20 of 137

1.

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

Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL.

J Clin Invest. 1998 May 15;101(10):2042-53.

2.

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.

Bothwell SP, Farber LW, Hoagland A, Nussbaum RL.

Mamm Genome. 2010 Oct;21(9-10):458-66. doi: 10.1007/s00335-010-9281-7. Epub 2010 Sep 26.

3.

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.

Coon BG, Mukherjee D, Hanna CB, Riese DJ 2nd, Lowe M, Aguilar RC.

Hum Mol Genet. 2009 Dec 1;18(23):4478-91. doi: 10.1093/hmg/ddp407. Epub 2009 Aug 21.

PMID:
19700499
4.

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.

Sugimoto K, Nishi H, Miyazawa T, Fujita S, Okada M, Takemura T.

Tohoku J Exp Med. 2014;232(3):163-6.

5.

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

Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL.

J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23.

6.

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL.

Am J Hum Genet. 1997 Jun;60(6):1384-8.

7.

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G.

Hum Mol Genet. 2003 Oct 1;12(19):2449-56. Epub 2003 Jul 29.

PMID:
12915445
8.

Structure and function of the Lowe syndrome protein OCRL1.

Lowe M.

Traffic. 2005 Sep;6(9):711-9. Review.

9.

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.

Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y.

Clin Genet. 1998 Sep;54(3):199-202.

PMID:
9788721
10.

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.

Kanık A, Kasap-Demir B, Ateşli R, Eliaçık K, Yavaşcan O, Helvacı M.

Turk J Pediatr. 2013 Jan-Feb;55(1):82-5.

PMID:
23692838
11.

Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.

Suchy SF, Olivos-Glander IM, Nussabaum RL.

Hum Mol Genet. 1995 Dec;4(12):2245-50.

PMID:
8634694
12.
13.

A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.

Peces R, Peces C, de Sousa E, Vega C, Selgas R, Nevado J.

Int Urol Nephrol. 2013 Dec;45(6):1767-71. doi: 10.1007/s11255-012-0246-5. Epub 2012 Jul 21.

PMID:
22821049
14.

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

Chou YY, Chao SC, Chiou YY, Lin SJ.

Acta Paediatr Taiwan. 2005 Jul-Aug;46(4):226-9.

PMID:
16381338
15.

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC.

Hum Genet. 1997 Feb;99(2):145-50.

PMID:
9048911
16.

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.

Zhang X, Jefferson AB, Auethavekiat V, Majerus PW.

Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6.

17.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M.

Am J Kidney Dis. 2006 Dec;48(6):942.e1-14.

PMID:
17162149
18.

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.

Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):121-8. Epub 2006 Jun 13.

PMID:
16777452
19.

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.

20.

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I.

Am J Med Genet. 1998 Jun 5;77(5):348-55.

PMID:
9632163

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