Literature DB >> 12791045

A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.

J Cai, B A Shoo, T Sorauf, E Wang Jabs.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12791045     DOI： 10.1034/j.1399-0004.2003.00098.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  4 in total

1.  N-terminal truncations of human bHLH transcription factor Twist1 leads to the formation of aggresomes.

Authors:  Gokulapriya Govindarajalu; Murugan Selvam; Elango Palchamy; Sudhakar Baluchamy
Journal:  Mol Cell Biochem       Date:  2017-08-04       Impact factor: 3.396

2.  Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Authors:  Juanliang Cai; Barbara K Goodman; Ankita S Patel; John B Mulliken; Lionel Van Maldergem; George E Hoganson; William A Paznekas; Ziva Ben-Neriah; Ruth Sheffer; Michael L Cunningham; Donna L Daentl; Ethylin Wang Jabs
Journal:  Hum Genet       Date:  2003-09-25       Impact factor: 4.132

3.  TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation.

Authors:  Xiaochen Fan; V Pragathi Masamsetti; Jane Qj Sun; Kasper Engholm-Keller; Pierre Osteil; Joshua Studdert; Mark E Graham; Nicolas Fossat; Patrick Pl Tam
Journal:  Elife       Date:  2021-02-08       Impact factor: 8.140

4.  A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

Authors:  Arpita Rai Thakur; Venkatesh G Naikmasur
Journal:  Indian J Dent       Date:  2014-04
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.