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Items: 1 to 20 of 77

1.

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D, Jin SC, DeSpenza T Jr, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Hum Genome Var. 2016 Dec 8;3:16042. doi: 10.1038/hgv.2016.42. eCollection 2016.

2.

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F.

Eur J Hum Genet. 2013 Jun;21(6):687-90. doi: 10.1038/ejhg.2012.225. Epub 2012 Oct 10.

3.

Phenotype and genotype of Dent's disease in three Chinese boys.

Li P, Huang JP.

Nephrology (Carlton). 2009 Apr;14(2):139-42. doi: 10.1111/j.1440-1797.2008.01057.x.

PMID:
19076289
4.

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
5.

Dent's disease.

Devuyst O, Thakker RV.

Orphanet J Rare Dis. 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. Review.

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.

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.

8.

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. Epub 2014 Oct 9.

PMID:
25305077
9.

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 Mar;232(3):163-6.

10.

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.

Ramos-Trujillo E, Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A; RenalTube Group.

J Pediatr Genet. 2013 Sep;2(3):133-40. doi: 10.3233/PGE-13061.

11.

Dent's disease: clinical features and molecular basis.

Claverie-Martín F, Ramos-Trujillo E, García-Nieto V.

Pediatr Nephrol. 2011 May;26(5):693-704. doi: 10.1007/s00467-010-1657-0. Epub 2010 Oct 10.

PMID:
20936522
12.

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.

13.

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.

Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV.

Kidney Int. 2000 Aug;58(2):520-7.

14.

Evidence for genetic heterogeneity in Dent's disease.

Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ.

Kidney Int. 2004 May;65(5):1615-20.

15.

Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.

Dinour D, Davidovitz M, Levin-Iaina N, Lotan D, Cleper R, Weissman I, Knecht A, Holtzman EJ.

Nephron Clin Pract. 2009;112(4):c262-7. doi: 10.1159/000224793. Epub 2009 Jun 16.

PMID:
19546586
16.

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. Epub 2010 Feb 27.

17.
18.

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
19.

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A, Dillon MJ, Goldraich NP, Hoppe B, Lhotta K, Loirat C, Malik R, Morel D, Kotanko P, Roussel B, Rubinger D, Schrander-Stumpel C, Serdaroglu E, Nesbit MA, Ashcroft F, Thakker RV.

Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20.

PMID:
19546591
20.

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.

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