Results 21 to 30 of about 311 (84)

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

EFTUD2 , The Gene Responsible For Mandibulofacial Dysostosis With Microcephaly (MFDM), Is Required For Implantation And Craniofacial Development In Mouse

The FASEB Journal, 2019
Haploinsufficiency of EFTUD2 is associated with MFDM (mandibulofacial dysostosis with microcephaly), but the etiology of this syndrome remains unknown. Our goal is to determine the tissue and temporal specific expression and requirement for Eftud2 ...
Marie‐Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Jacek Majewski, Loydie Jerome Majewska   +5 more
openaire   +1 more source

Additional file 2 of A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

, 2020
Additional file 2: Table S1. Number of prioritized variants during the WES data filtering analysis.
Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash   +10 more
openaire   +1 more source

Additional file 1 of A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

, 2020
Additional file 1: Supplementary Fig. 1. mRNA sequence of the WT allele versus the mutant allele. The exon 9 skipping in mutant allele is predicted to cause a frameshift, leading to a premature codon stop. The exon 8 is in red, exon 9 in green and exon 10 in blue.
Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash   +10 more
openaire   +1 more source

Additional file 1 of Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly

Supplementary Material ...
Lyulcheva-Bennett, Ekaterina, Kershaw, Christopher, Baker, Eleanor, Gillies, Stuart, McCarthy, Emma, Higgs, Jenny, Canham, Natalie, Hennigan, Dawn, Parks, Chris, Bennett, Daimark   +9 more
openaire   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

Mandibulofacial dysostosis-microcephaly syndrome [PDF]

, 2020
openaire   +1 more source

Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes. [PDF]

Cureus, 2023
Khattar D, Suhrie KR.
europepmc   +1 more source

First case report of Nager syndrome patient from Georgia. [PDF]

SAGE Open Med Case Rep, 2022
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Kapoor MA, Orjonikidze N, Abzianidze E.   +5 more
europepmc   +1 more source

Neural Crest Development in Health and Disease. [PDF]

Int J Mol Sci, 2022
Pilon N.
europepmc   +1 more source