Literature DB >> 8179291

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.

M A Pook1, S Jeremiah, S J Scheinman, S Povey, R V Thakker.   

Abstract

Mapping studies using a panel of 22 rodent-human somatic cell hybrids have helped to localize the Tamm-Horsfall glycoprotein (uromodulin) gene (UMOD), which has previously been reported to map to 16p13.11, to the region 16p12.3-qter. The combined results indicate that UMOD is located distal to D16S295 and proximal to D16S287 and in the region 16p12.3-16p13.11. Uromodulin is known to affect the formation of calcium-containing kidney stones, and this localization of UMOD will help in studies of families with autosomal forms of nephrolithiasis.

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Year:  1993        PMID： 8179291     DOI： 10.1111/j.1469-1809.1993.tb00902.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  11 in total

1.  Construction of comparative cytogenetic maps of the Chinese hamster to mouse, rat and human.

Authors:  A Kuroiwa; K Tsuchiya; K Matsubara; T Namikawa; Y Matsuda
Journal:  Chromosome Res       Date:  2001       Impact factor: 5.239

Review 2.  Susceptibility genes in common complex kidney disease.

Authors:  Jasmin Divers; Barry I Freedman
Journal:  Curr Opin Nephrol Hypertens       Date:  2010-01       Impact factor: 2.894

Review 3.  From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Authors:  Gopalakrishnan Venkat-Raman; Christine Gast; Anthony Marinaki; Lynnette Fairbanks
Journal:  Pediatr Nephrol       Date:  2016-02-12       Impact factor: 3.714

Review 4.  Uromodulin: old friend with new roles in health and disease.

Authors:  Franca M Iorember; V Matti Vehaskari
Journal:  Pediatr Nephrol       Date:  2013-07-24       Impact factor: 3.714

5.  Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Authors:  B Stibůrková; J Majewski; I Sebesta; W Zhang; J Ott; S Kmoch
Journal:  Am J Hum Genet       Date:  2000-04-25       Impact factor: 11.025

Review 6.  Uromodulin: from physiology to rare and complex kidney disorders.

Authors:  Olivier Devuyst; Eric Olinger; Luca Rampoldi
Journal:  Nat Rev Nephrol       Date:  2017-08-07       Impact factor: 28.314

7.  Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

Authors:  Daniel F Gudbjartsson; Hilma Holm; Olafur S Indridason; Gudmar Thorleifsson; Vidar Edvardsson; Patrick Sulem; Femmie de Vegt; Frank C H d'Ancona; Martin den Heijer; Jack F M Wetzels; Leifur Franzson; Thorunn Rafnar; Kristleifur Kristjansson; Unnur S Bjornsdottir; Gudmundur I Eyjolfsson; Lambertus A Kiemeney; Augustine Kong; Runolfur Palsson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  PLoS Genet       Date:  2010-07-29       Impact factor: 5.917

8.  Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Authors:  F Scolari; D Puzzer; A Amoroso; G Caridi; G M Ghiggeri; R Maiorca; P Aridon; M De Fusco; A Ballabio; G Casari
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

9.  A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.

Authors:  Mi-Na Lee; Ji-Eun Jun; Ghee Young Kwon; Woo-Seong Huh; Chang-Seok Ki
Journal:  Ann Lab Med       Date:  2013-06-24       Impact factor: 3.464

10.  Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Authors:  Siân E Williams; Anita A C Reed; Juris Galvanovskis; Corinne Antignac; Tim Goodship; Fiona E Karet; Peter Kotanko; Karl Lhotta; Vincent Morinière; Paul Williams; William Wong; Patrik Rorsman; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2009-05-22       Impact factor: 6.150
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