Literature DB >> 17660342

Homozygous frameshift mutation in the SLC22A12 gene in a patient with primary gout and high levels of serum uric acid.

J Vázquez-Mellado1, V Alvarado-Romano, R Burgos-Vargas, A L Jiménez-Vaca, G Pozo-Molina, S A Cuevas-Covarrubias.   

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Year:  2007        PMID： 17660342      PMCID： PMC1994487          DOI： 10.1136/jcp.2006.037473

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  16 in total

1.  The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus.

Authors:  Naohiko Anzai; Hiroki Miyazaki; Rie Noshiro; Suparat Khamdang; Arthit Chairoungdua; Ho-Jung Shin; Atsushi Enomoto; Shinichi Sakamoto; Taku Hirata; Kimio Tomita; Yoshikatsu Kanai; Hitoshi Endou
Journal:  J Biol Chem       Date:  2004-08-10       Impact factor: 5.157

2.  Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.

Authors:  Sergio Alberto Cuevas-Covarrubias; Ana Luisa Jiménez-Vaca; Luz María González-Huerta; Margarita Valdes-Flores; Maria Del Refugio Rivera-Vega; Guadalupe Maya-Nunez; Susana H Kofman-Alfaro
Journal:  J Invest Dermatol       Date:  2002-10       Impact factor: 8.551

3.  Cause of persistent hypouricemia in outpatients.

Authors:  I Hisatome; K Ogino; H Kotake; R Ishiko; M Saito; J Hasegawa; H Mashiba; S Nakamoto
Journal:  Nephron       Date:  1989       Impact factor: 2.847

Review 4.  Alpha thalassemia. A modifier of sickle cell disease.

Authors:  S H Embury
Journal:  Ann N Y Acad Sci       Date:  1989       Impact factor: 5.691

5.  Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

Authors:  J Vázquez-Mellado; A L Jiménez-Vaca; S Cuevas-Covarrubias; V Alvarado-Romano; G Pozo-Molina; R Burgos-Vargas
Journal:  Rheumatology (Oxford)       Date:  2006-07-11       Impact factor: 7.580

6.  Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Authors:  Andrea L Vincent; Gail Billingsley; Yvonne Buys; Alex V Levin; Megan Priston; Graham Trope; Donna Williams-Lyn; Elise Héon
Journal:  Am J Hum Genet       Date:  2002-01-03       Impact factor: 11.025

7.  HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.

Authors:  Sandrine Jacolot; Gerald Le Gac; Virginie Scotet; Isabelle Quere; Catherine Mura; Claude Ferec
Journal:  Blood       Date:  2003-12-11       Impact factor: 22.113

8.  Two siblings with unusually mild homozygous beta-thalassemia: a didactic example of the effect of a nonallelic modifier gene of the expressivity of a monogenic disorder.

Authors:  J Prchal; G Stamatoyannopoulos
Journal:  Am J Med Genet       Date:  1981

9.  Asymptomatic hyperuricemia. Risks and consequences in the Normative Aging Study.

Authors:  E W Campion; R J Glynn; L O DeLabry
Journal:  Am J Med       Date:  1987-03       Impact factor: 4.965

10.  Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

Authors:  Kimiyoshi Ichida; Makoto Hosoyamada; Ichiro Hisatome; Atsushi Enomoto; Miho Hikita; Hitoshi Endou; Tatsuo Hosoya
Journal:  J Am Soc Nephrol       Date:  2004-01       Impact factor: 10.121
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  2 in total

1.  Multiple organic anion transporters contribute to net renal excretion of uric acid.

Authors:  Satish A Eraly; Volker Vallon; Timo Rieg; Jon A Gangoiti; William R Wikoff; Gary Siuzdak; Bruce A Barshop; Sanjay K Nigam
Journal:  Physiol Genomics       Date:  2008-02-12       Impact factor: 3.107

2.  No associations exists between red blood cell distribution width and serum uric acid in both sexes.

Authors:  Chunmei Zhang; Zhaowei Meng; Xue Li; Ming Liu; Xiaojun Ren; Mei Zhu; Qing He; Qing Zhang; Kun Song; Qiyu Jia; Qian Chen
Journal:  Medicine (Baltimore)       Date:  2018-10       Impact factor: 1.817
  2 in total

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