Genomes and Genes
Christopher T Gordon
- Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon
INSERM UMR 1163, Institut Imagine, Paris 75015, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France Electronic address
Am J Hum Genet 96:519-31. 2015....
- Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon
Institut National de la Santé et de la Recherche Médicale U781, Hopital Necker Enfants Malades, 75015 Paris, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France Electronic address
Am J Hum Genet 93:1118-25. 2013..These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. ..
- Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon
INSERM U781, Tour Lavoisier 2ème étage, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
J Med Genet 50:174-86. 2013..These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development...
- CXCL14 expression during chick embryonic developmentChristopher T Gordon
Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Australia
Int J Dev Biol 55:335-40. 2011..Expression in several domains raises the possibility that CXCL14 may be involved in some of the same developmental events during which CXCL12-CXCR4 signalling is known to play a role...
- Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphne Lehalle
Département de génétique, Hopital Necker Enfants Malades, APHP, Paris, France
Hum Mutat 35:478-85. 2014..MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. ..
- Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier
Inserm U1163, Universite Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France
Am J Hum Genet 99:666-73. 2016..Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants. ..
- Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon
Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Inserm U1163, Paris, France
Hum Mutat 35:1011-20. 2014..These studies suggest that multiple noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS. ..
- bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1Kerry A Miller
Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
PLoS ONE 8:e76342. 2013..The bfb strain provides new opportunities to investigate the role of Fras1 in development. ..
- EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon
Unité INSERM U781, faculté Paris Descartes, Institut Imagine, Paris, France
J Med Genet 49:737-46. 2012..In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated...
- YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosisTiong Yang Tan
Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Australia
Dev Dyn 244:1022-30. 2015..2 deletion/duplication syndromes (OMIM 611867). We therefore investigated the role of chick YPEL1 in craniofacial development using ex vivo and in vivo approaches in the avian model...
- Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovoChristopher T Gordon
Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville 3052, Australia
Evol Dev 12:459-73. 2010..Consequently, variation in Dlx expression or activity may have influenced the morphology of jaw elements during vertebrate evolution...
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon
Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France
Nat Genet . 2017..Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD...
- Enhancer mutations and phenotype modularityChristopher T Gordon
University Paris Descartes Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hopital Necker Enfants Malades, Paris, France
Nat Genet 46:3-4. 2014..A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis. ..
- Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko
INSERM U 781, Hopital Necker Enfants Malades, Paris, France
J Med Genet 48:825-30. 2011..The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is expressed and conversely will differentiate as ovarian granulosa cells when SOX9 expression is switched off...