Literature DB >> 2776474

Exclusion of Usher syndrome gene from much of chromosome 4.

R J Smith1, J D Holcomb, S P Daiger, C T Caskey, M Z Pelias, B R Alford, D D Fontenot, J F Hejtmancik.   

Abstract

Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.

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Year:  1989        PMID: 2776474     DOI: 10.1159/000132733

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  17 in total

1.  Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors:  Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-09-02       Impact factor: 11.025

2.  Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.

Authors:  Qingjiong Zhang; Fareeha Zulfiqar; Xueshan Xiao; S Amer Riazuddin; Radha Ayyagari; Farooq Sabar; Raphael Caruso; Paul A Sieving; Sheikh Riazuddin; J Fielding Hejtmancik
Journal:  Hum Genet       Date:  2005-09-28       Impact factor: 4.132

3.  FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Juan Wang; Jinling Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2007-01-26       Impact factor: 2.367

4.  Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Authors:  Ningdong Li; Han Mei; Ian M MacDonald; XiaoDong Jiao; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-08-26       Impact factor: 4.799

5.  Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Authors:  Jianjun Chen; Nizar Smaoui; Monia Ben Hamed Hammer; Xiaodong Jiao; S Amer Riazuddin; Shyana Harper; Nicholas Katsanis; Sheikh Riazuddin; Habiba Chaabouni; Eliot L Berson; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-07-18       Impact factor: 4.799

6.  Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.

Authors:  Xiaodong Jiao; Afia Sultana; Prashant Garg; Balasubramanya Ramamurthy; Geeta K Vemuganti; Nibaran Gangopadhyay; J Fielding Hejtmancik; Chitra Kannabiran
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

7.  Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Authors:  Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Béatrice E Frueh; Yuri Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2005-05-18       Impact factor: 11.025

8.  Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Authors:  X Jiao; F L Munier; F Iwata; M Hayakawa; A Kanai; J Lee; D F Schorderet; M S Chen; M Kaiser-Kupfer; J F Hejtmancik
Journal:  Am J Hum Genet       Date:  2000-09-21       Impact factor: 11.025

9.  Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Authors:  Xiaodong Jiao; Anren Li; Zi-Bing Jin; Xinjing Wang; Alessandro Iannaccone; Elias I Traboulsi; Michael B Gorin; Francesca Simonelli; J Fielding Hejtmancik
Journal:  Eur J Hum Genet       Date:  2017-01-04       Impact factor: 4.246

10.  Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Authors:  Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John Heckenlively; Richard G Weleber; Elias I Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-03-23       Impact factor: 11.025

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