Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

A cis-regulatory sequence also known as zone of polarizing activity (ZPA) regulatory sequence (ZRS) located in intron 5 of LMBR1 is essential for expression of sonic hedgehog (SHH) in the developing posterior limb bud mesenchyme. Even though many point mutations causing preaxial duplication defects...

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Detalhes bibliográficos
Main Authors: Farooq, Muhammad, Troelsen, Jesper T, Boyd, Mette, Eiberg, Hans, Hansen, Lars, Hussain, Muhammad Sajid, Rehman, Shoaib ur, Azhar, Aysha, Ali, Amjad, Bakhtiar, Syeda Marriam, Tommerup, Niels, Baig, Shahid Mahmood, Kjaer, Klaus W
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987342/
https://ncbi.nlm.nih.gov/pubmed/20068592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.225
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