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Items: 1 to 20 of 121

1.

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.

2.

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.

3.

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.

4.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, Rendu J, Fauré J, Lunardi J, Gacon G, Billuart P, Dorseuil O.

Hum Mol Genet. 2015 Feb 15;24(4):994-1006. doi: 10.1093/hmg/ddu514.

5.

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.

6.

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.

Luo N, Kumar A, Conwell M, Weinreb RN, Anderson R, Sun Y.

PLoS One. 2013 Jun 21;8(6):e66727. doi: 10.1371/journal.pone.0066727.

7.

X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.

Bernard DJ, Nussbaum RL.

Mamm Genome. 2010 Apr;21(3-4):186-94. doi: 10.1007/s00335-010-9255-9.

8.

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
9.

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.

10.

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.

Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S.

J Am Soc Nephrol. 2016 Nov 28. pii: ASN.2016080913. [Epub ahead of print]

PMID:
27895154
12.

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.

13.

Novel OCRL mutations in Chinese children with Lowe syndrome.

Zhang YQ, Wang F, Ding J, Yan H, Yang YL.

World J Pediatr. 2013 Feb;9(1):53-7. doi: 10.1007/s12519-013-0406-4.

PMID:
23389333
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.

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

Keilhauer CN, Gal A, Sold JE, Zimmermann J, Netzer KO, Schramm L.

Klin Monbl Augenheilkd. 2007 Mar;224(3):207-9. German.

PMID:
17385124
16.

Structure and function of the Lowe syndrome protein OCRL1.

Lowe M.

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

17.

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.

Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y.

Hum Mol Genet. 2012 Aug 1;21(15):3333-44. doi: 10.1093/hmg/dds163.

18.

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Pirruccello M, Swan LE, Folta-Stogniew E, De Camilli P.

Nat Struct Mol Biol. 2011 Jun 12;18(7):789-95. doi: 10.1038/nsmb.2071.

19.

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M.

Klin Padiatr. 2013 Jan;225(1):29-33. doi: 10.1055/s-0032-1321900.

PMID:
22915452
20.

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
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