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Items: 1 to 20 of 111

1.

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.

Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL.

Nature. 1992 Jul 16;358(6383):239-42.

PMID:
1321346
2.

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.

3.

[Recent progress in molecular biology of inherited tubular transport abnormalities].

Indo Y, Matsuda I.

Nihon Rinsho. 1992 Dec;50(12):3086-92. Review. Japanese.

PMID:
1491459
4.
5.
6.

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.

7.

OCRL mutation analysis in Italian patients with Lowe syndrome.

Addis M, Loi M, Lepiani C, Cau M, Melis MA.

Hum Mutat. 2004 May;23(5):524-5.

PMID:
15108291
8.

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA.

Am J Hum Genet. 1991 Oct;49(4):804-10.

9.

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J.

Hum Mutat. 2000;16(2):157-65.

PMID:
10923037
10.

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.

Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL.

Am J Hum Genet. 1988 May;42(5):748-55.

11.

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.

12.

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
13.

Characterization of a cDNA encoding the 43-kDa membrane-associated inositol-polyphosphate 5-phosphatase.

Laxminarayan KM, Chan BK, Tetaz T, Bird PI, Mitchell CA.

J Biol Chem. 1994 Jun 24;269(25):17305-10.

14.

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
15.

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.

Ooms LM, Horan KA, Rahman P, Seaton G, Gurung R, Kethesparan DS, Mitchell CA.

Biochem J. 2009 Apr 1;419(1):29-49. doi: 10.1042/BJ20081673. Review.

PMID:
19272022
16.

Clinicopathologic and molecular-pathologic approaches to Lowe's syndrome.

Hayashi Y, Hanioka K, Kanomata N, Imai Y, Itoh H.

Pediatr Pathol Lab Med. 1995 May-Jun;15(3):389-402.

PMID:
8597826
17.

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.

Leahey AM, Charnas LR, Nussbaum RL.

Hum Mol Genet. 1993 Apr;2(4):461-3.

PMID:
8504307
18.

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
19.

cDNA cloning and localization of OCRL-1 in rabbit kidney.

Erb BC, Velázquez H, Gisser M, Shugrue CA, Reilly RF.

Am J Physiol. 1997 Nov;273(5 Pt 2):F790-5.

PMID:
9374843
20.

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