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Items: 1 to 20 of 73

1.

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.

Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F.

Clin Genet. 2009 Oct;76(4):413-6. doi: 10.1111/j.1399-0004.2009.01212.x. Epub 2009 Aug 10. No abstract available.

PMID:
19673950
2.

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.

Forino M, Graziotto R, Tosetto E, Gambaro G, D'Angelo A, Anglani F.

J Hum Genet. 2004;49(1):53-60. Epub 2003 Dec 13.

PMID:
14673707
3.
4.

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
5.

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.

Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B.

Kidney Blood Press Res. 2003;26(3):176-84.

6.

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.

Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, Antón-Gamero M, Loris C, Méndez-Alvarez S, Claverie-Martin F.

Nephrol Dial Transplant. 2003 Apr;18(4):717-23.

PMID:
12637640
7.

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
8.

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

Ludwig M, Utsch B.

Am J Med Genet A. 2004 Aug 1;128A(4):434-5. No abstract available.

PMID:
15264294
9.

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F.

Nephrol Dial Transplant. 2006 Sep;21(9):2452-63. Epub 2006 Jul 5.

PMID:
16822791
10.

Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidney.

Wright J, Morales MM, Sousa-Menzes J, Ornellas D, Sipes J, Cui Y, Cui I, Hulamm P, Cebotaru V, Cebotaru L, Guggino WB, Guggino SE.

Physiol Genomics. 2008 May 13;33(3):341-54. doi: 10.1152/physiolgenomics.00024.2008. Epub 2008 Mar 18.

11.

A second family with XLRH displays the mutation S244L in the CLCN5 gene.

Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A.

Hum Genet. 1997 Jun;99(6):781-4.

PMID:
9187673
12.

[Dent's disease].

Pavićević S, Bogdanović R, Ludwig M, Samardzić M.

Srp Arh Celok Lek. 2008 Dec;136 Suppl 4:312-5. Serbian.

13.

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

Ludwig M, Utsch B, Monnens LA.

Nephrol Dial Transplant. 2006 Oct;21(10):2708-17. Epub 2006 Jul 20. Review. No abstract available.

PMID:
16861240
14.

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F.

J Hum Genet. 2007;52(3):255-61. Epub 2007 Jan 30.

PMID:
17262170
15.

Renal manifestations of Dent disease and Lowe syndrome.

Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI.

Pediatr Nephrol. 2008 Feb;23(2):243-9. Epub 2007 Nov 24.

PMID:
18038239
16.

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

Claverie-Martín F, Flores C, Antón-Gamero M, González-Acosta H, García-Nieto V.

J Hum Genet. 2005;50(7):370-4. Epub 2005 Jul 23.

PMID:
16041495
17.

5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.

Li W, Detter JC, Weiss HJ, Cramer EM, Zhang Q, Novak EK, Favier R, Kingsmore SF, Swank RT.

Mol Genet Metab. 2000 Dec;71(4):599-608.

PMID:
11136552
18.

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).

Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW.

Genomics. 1995 Oct 10;29(3):598-606.

PMID:
8575751
19.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q.

Mol Vis. 2008;14:1974-82. Epub 2008 Oct 30.

20.

-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.

Li M, Cheng TS, Ho PW, Chan KH, Mak W, Cheung RT, Ramsden DB, Sham PC, Song Y, Ho SL.

J Peripher Nerv Syst. 2009 Mar;14(1):14-21. doi: 10.1111/j.1529-8027.2009.00201.x.

PMID:
19335535

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