Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Autor: Erich Roessler, Kenia B. El-Jaick, Maximilian Muenke, Benjamin Feldman, Sherri J. Bale, Jamie L. Brown, Mirit Snir, Jorge I. Vélez, Felicitas Lacbawan, Sabina Domené

Publikováno v: Human Molecular Genetics. 17:3919-3928

Holoprosencephaly (HPE) is the most common developmental anomaly of the human forebrain; however, the genetics of this heterogeneous and etiologically complex malformation is incompletely understood. Heterozygous mutations in SIX3, a transcription fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d02b5b78271b174114a7afc5298579
https://doi.org/10.1093/hmg/ddn294

No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) population

Autor: Marcelo A, Costa-Lima, Heloisa N M, Meneses, Kenia B, El-Jaick, Márcia R, Amorim, Eduardo E, Castilla, Iêda M, Orioli

Publikováno v: Molecular medicine reports. 1(3)

The ZIC genes comprise a family of transcriptional factors associated with neural tube defects (NTDs) in mice and with holoprosencephaly in humans. An allelic variant of ZIC2, a CAC repeat within the first exon, was reported in association with an in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cfa3bf5cbd31002b8308f67197dfa500
https://pubmed.ncbi.nlm.nih.gov/21479430

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Autor: Felicitas Lacbawan, Sherri J. Bale, Nan Zhou, Maximilian Muenke, Erich Roessler, Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Hubert J.M. Smeets, Christèle Dubourg, Véronique David, Maia Ouspenskaia, Ute Hehr, Aimee D C Paulussen, Jorge I. Vélez, Claude Bendavid, Kenia B. El-Jaick, Sylvie Odent

Publikováno v: Human Mutation
Human Mutation, 2009, 30 (10), pp.E921-35. ⟨10.1002/humu.21090⟩
Human Mutation, Wiley, 2009, 30 (10), pp.E921-35. ⟨10.1002/humu.21090⟩

International audience; Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c69e9e5461d8c6cfdf318b2523de00
https://www.hal.inserm.fr/inserm-00406224

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Autor: Federico Coluccio Leskow, Xin Geng, Douglas J. Epstein, Xue Li, Maximilian Muenke, Kenia B. El-Jaick, Anastasia K. Yocum, Christèle Dubourg, Erich Roessler, Guillermo Oliver, Yongsu Jeong

Publikováno v: Nature Genetics
Nature Genetics, 2008, 40 (11), pp.1348-53. ⟨10.1038/ng.230⟩
Nature Genetics, Nature Publishing Group, 2008, 40 (11), pp.1348-53. ⟨10.1038/ng.230⟩

In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline formation. Despite the importance of maintaining SHH transcript levels above a critical threshold, we know little about the upstream regulators of SHH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8200fe8369e1236a61059408c5de6b
https://www.hal.inserm.fr/inserm-00353024

SIX3 mutations with holoprosencephaly

Autor: Maximilian Muenke, Kenia B. El-Jaick, Lucilene Arilho Ribeiro, Antonio Richieri-Costa

Publikováno v: American journal of medical genetics. Part A. 140(23)

Here, we report six Brazilian patients with holoprosencephaly caused by SIX3 mutations. Missense mutations were more common than frameshift mutations. Comparison of patients with missense versus frameshift mutations was essentially unremarkable. Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cb8b9c62627c3b4fda4af9e6f3a097
https://pubmed.ncbi.nlm.nih.gov/17001667