Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

By Beysen Diane   Moumn Lara   Veitia Reiner   Peters Hartmut   Leroy Bart P.   De Paepe Anne   De Baere Elfride  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 2030-2038

Oxford University Press

Access to resources Recommend Favorite

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

By Maldergem L.V.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1591-1600

Oxford University Press

Access to resources Recommend Favorite

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development

By Moumn Lara   Dipietromaria Aurlie   Batista Frank   Kocer Ayhan   Fellous Marc   Pailhoux Eric   Veitia Reiner A.  

Human Molecular Genetics, Vol. 17, Iss. 7, 2007-12 ,pp. : 1010-1019

Oxford University Press

Access to resources Recommend Favorite

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

By Benayoun Brnice A.   Batista Frank   Auer Jana   Dipietromaria Aurlie   L'Hte David   De Baere Elfride   Veitia Reiner A.  

Human Molecular Genetics, Vol. 18, Iss. 4, 2009-02 ,pp. : 632-644

Oxford University Press

Access to resources Recommend Favorite

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

By Brown Lucia   Paraso Melinda   Brown Stephen  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 411-420

Oxford University Press

Access to resources Recommend Favorite