Literature DB >> 10790211

Mutations in the human TWIST gene

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Abstract

The authors wish to correct a mistake in the amino acid change stemming from a 490C>T nucleotide change. In this article, the nucleotide change is stated to lead to a Q165X amino acid change. The 490C>T nucleotide change should actually cause a Q164X amino acid change.

Entities:  

Year:  2000        PMID： 10790211     DOI： 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU10>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  3 in total

1.  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

Review 2.  Craniosynostosis: molecular pathways and future pharmacologic therapy.

Authors:  Kshemendra Senarath-Yapa; Michael T Chung; Adrian McArdle; Victor W Wong; Natalina Quarto; Michael T Longaker; Derrick C Wan
Journal:  Organogenesis       Date:  2012-10-01       Impact factor: 2.500

3.  Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis.

Authors:  Mengfei Yu; Li Ma; Yuan Yuan; Xin Ye; Axel Montagne; Jinzhi He; Thach-Vu Ho; Yingxi Wu; Zhen Zhao; Naomi Sta Maria; Russell Jacobs; Mark Urata; Huiming Wang; Berislav V Zlokovic; Jian-Fu Chen; Yang Chai
Journal:  Cell       Date:  2021-01-07       Impact factor: 66.850
  3 in total

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