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Results: 1 to 20 of 103

Related Citations for PubMed (Select 25060058)

1.

Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.

Takeuchi Y, Mishima E, Shima H, Akiyama Y, Suzuki C, Suzuki T, Kobayashi T, Suzuki Y, Nakayama T, Takeshima Y, Vazquez N, Ito S, Gamba G, Abe T.

J Am Soc Nephrol. 2015 Feb;26(2):271-9. doi: 10.1681/ASN.2013091013. Epub 2014 Jul 24.

PMID:
25060058
2.

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.

Hum Mutat. 2004 Dec;24(6):491-501.

PMID:
15523642
3.

A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.

Shao L, Liu L, Miao Z, Ren H, Wang W, Lang Y, Yue S, Chen N.

Am J Nephrol. 2008;28(6):900-7. doi: 10.1159/000141932. Epub 2008 Jun 26.

PMID:
18580052
4.

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.

Lo YF, Nozu K, Iijima K, Morishita T, Huang CC, Yang SS, Sytwu HK, Fang YW, Tseng MH, Lin SH.

Clin J Am Soc Nephrol. 2011 Mar;6(3):630-9. doi: 10.2215/CJN.06730810. Epub 2010 Nov 4.

5.

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.

Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M.

Pediatr Res. 2007 Apr;61(4):502-5.

PMID:
17414160
6.

[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis].

Yasujima M.

Rinsho Byori. 2007 Apr;55(4):338-43. Review. Japanese.

PMID:
17511264
7.

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

Fava C, Montagnana M, Rosberg L, Burri P, Jönsson A, Wanby P, Wahrenberg H, Hulthén UL, Aurell M, Guidi GC, Melander O.

DNA Seq. 2007 Oct;18(5):395-9.

PMID:
17654016
8.

Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, Nakane C, Mano H, Kawachi H, Sato N, Soma M, Matsumoto K.

Endocrine. 2007 Apr;31(2):149-53.

PMID:
17873326
9.

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP.

Kidney Int. 1998 Sep;54(3):720-30.

10.

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Riveira-Munoz E, Devuyst O, Belge H, Jeck N, Strompf L, Vargas-Poussou R, Jeunemaître X, Blanchard A, Knoers NV, Konrad M, Dahan K.

Nephrol Dial Transplant. 2008 Oct;23(10):3120-5. doi: 10.1093/ndt/gfn229. Epub 2008 May 9.

11.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Tran VK, Takeshima Y, Zhang Z, Yagi M, Nishiyama A, Habara Y, Matsuo M.

J Med Genet. 2006 Dec;43(12):924-30. Epub 2006 May 31.

12.
13.

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O; Belgian Network for Study of Gitelman Syndrome.

J Am Soc Nephrol. 2007 Apr;18(4):1271-83. Epub 2007 Feb 28.

14.

Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation.

Coto E, Arriba G, García-Castro M, Santos F, Corao AI, Díaz M, Sánchez Heras M, Basterrechea MA, Tallón S, Alvarez V.

Am J Nephrol. 2009;30(3):218-21. doi: 10.1159/000218104. Epub 2009 May 7.

PMID:
19420906
15.

Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells.

Riancho JA, Saro G, Sañudo C, Izquierdo MJ, Zarrabeitia MT.

Nephrol Dial Transplant. 2006 Jan;21(1):217-20. Epub 2005 Oct 12.

16.

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome.

Shao L, Ren H, Wang W, Zhang W, Feng X, Li X, Chen N.

Nephron Physiol. 2008;108(3):p29-36. doi: 10.1159/000117815. Epub 2008 Feb 21.

PMID:
18287808
17.

Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.

Hayakawa M, Sakashita E, Ueno E, Tominaga S, Hamamoto T, Kagawa Y, Endo H.

J Biol Chem. 2002 Mar 1;277(9):6974-84. Epub 2001 Dec 13.

18.

Early appearance of hypokalemia in Gitelman syndrome.

Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, Tedeschi S, Bianchetti MG.

Pediatr Nephrol. 2010 Oct;25(10):2179-82. doi: 10.1007/s00467-010-1575-1. Epub 2010 Jun 16.

PMID:
20552229
19.

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.

Mol Genet Metab. 2008 Mar;93(3):323-30. Epub 2007 Nov 26.

PMID:
18023225
20.

[Establishment of genetic testing for Gitelman's syndrome].

Nakayama T, Aoi N, Sato N, Sato M, Kosuge K, Izumi Y, Soma M, Matsumoto K.

Rinsho Byori. 2010 Feb;58(2):156-61. Japanese.

PMID:
20229814
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