Literature DB >> 15173249

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

N Sabherwal1, R J Blaschke, A Marchini, D Heine-Suner, J Rosell, J Ferragut, W F Blum, G Rappold.   

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Year:  2004        PMID： 15173249      PMCID： PMC1735821          DOI： 10.1136/jmg.2003.016402

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Authors:  Gudrun Rappold; Werner F Blum; Elena P Shavrikova; Brenda J Crowe; Ralph Roeth; Charmian A Quigley; Judith L Ross; Beate Niesler
Journal:  J Med Genet       Date:  2006-12-20       Impact factor: 6.318

2.  Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Authors:  Verónica Barca-Tierno; Miriam Aza-Carmona; Eva Barroso; Damia Heine-Suner; Dimitar Azmanov; Jordi Rosell; Begoña Ezquieta; Lucia Sentchordi Montané; Teresa Vendrell; Jaime Cruz; Fernando Santos; José Ignacio Rodríguez; Jesús Pozo; Jesús Argente; Luba Kalaydjieva; Ricardo Gracía; Angel Campos-Barros; Sara Benito-Sanz; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

3.  Functional analysis of human mutations in homeodomain transcription factor PITX3.

Authors:  Satoru Sakazume; Elena Sorokina; Yoshiki Iwamoto; Elena V Semina
Journal:  BMC Mol Biol       Date:  2007-09-21       Impact factor: 2.946

Review 4.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

5.  Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.

Authors:  Elizabeth S Sandberg; Ali S Calikoglu; Karen J Loechner; Lydia L Snyder
Journal:  Case Rep Endocrinol       Date:  2017-08-30

6.  PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.

Authors:  Zehua Wu; Delong Meng; Chengbo Fang; Jian Li; Xiujie Zheng; Jiansuo Lin; Haijiang Zeng; Sihan Lv; Zhenning Zhang; Bing Luan; Zilin Zhong; Jianjun Chen
Journal:  Mol Med Rep       Date:  2019-02-26       Impact factor: 2.952
  6 in total

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