Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

[1]  E. Heard,et al.  Random monoallelic expression of genes on autosomes: Parallels with X-chromosome inactivation. , 2016, Seminars in cell & developmental biology.

[2]  S. Millar,et al.  Lhx2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth , 2016, Development.

[3]  Gerhard K. H. Przemeck,et al.  Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia , 2016, Mammalian Genome.

[4]  S. Twigg,et al.  New insights into craniofacial malformations. , 2015, Human molecular genetics.

[5]  A. Munnich,et al.  Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. , 2015, American journal of human genetics.

[6]  B. Metscher,et al.  Volume analysis of heat-induced cracks in human molars: A preliminary study , 2014, Journal of forensic dental sciences.

[7]  A. Munnich,et al.  Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. , 2013, American journal of human genetics.

[8]  M. Passos-Bueno,et al.  Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies , 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

[9]  H. Fuchs,et al.  An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. , 2013, The American journal of pathology.

[10]  C. Tyler-Smith,et al.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease , 2013, Human Genetics.

[11]  D. Wieczorek.  Human facial dysostoses , 2013, Clinical genetics.

[12]  H. Fuchs,et al.  Innovations in phenotyping of mouse models in the German Mouse Clinic , 2012, Mammalian Genome.

[13]  H. Fuchs,et al.  New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis , 2012, Mammalian Genome.

[14]  J. Vega,et al.  3D-μCT Cephalometric Measurements in Mice , 2011 .

[15]  Y. Uchijima,et al.  Identification and developmental analysis of endothelin receptor type-A expressing cells in the mouse kidney. , 2011, Gene expression patterns : GEP.

[16]  J. Chirgwin,et al.  Regulation of Postnatal Trabecular Bone Formation by the Osteoblast Endothelin A Receptor , 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[17]  E. Wolf,et al.  Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters , 2011, Mammalian Genome.

[18]  T. Schilling,et al.  Regulation of facial morphogenesis by endothelin signaling: Insights from mice and fish , 2010, American journal of medical genetics. Part A.

[19]  Frank Stellabotte,et al.  Jagged-Notch signaling ensures dorsal skeletal identity in the vertebrate face , 2010, Development.

[20]  M. Passos-Bueno,et al.  Syndromes of the first and second pharyngeal arches: A review , 2009, American journal of medical genetics. Part A.

[21]  D. Clouthier,et al.  Elucidating timing and function of endothelin-A receptor signaling during craniofacial development using neural crest cell-specific gene deletion and receptor antagonism. , 2009, Developmental biology.

[22]  Y. Uchijima,et al.  Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development , 2008, Development.

[23]  M. J. Harris,et al.  Mouse genetic models of cleft lip with or without cleft palate. , 2008, Birth defects research. Part A, Clinical and molecular teratology.

[24]  I. Hall,et al.  Airway smooth muscle in bronchial tone, inflammation, and remodeling: basic knowledge to clinical relevance. , 2008, American journal of respiratory and critical care medicine.

[25]  O. Stephens,et al.  Dickkopf homolog 1 mediates endothelin-1-stimulated new bone formation. , 2007, Molecular endocrinology.

[26]  D. Weaver,et al.  Johnson-McMillin syndrome: report of a new case with novel features. , 2005, Birth defects research. Part A, Clinical and molecular teratology.

[27]  C. Kimmel,et al.  sucker encodes a zebrafish Endothelin-1 required for ventral pharyngeal arch development. , 2000, Development.

[28]  Klaus Schughart,et al.  Genome-wide, large-scale production of mutant mice by ENU mutagenesis , 2000, Nature Genetics.

[29]  R. Hammer,et al.  Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. , 1998, Development.

[30]  R. Hammer,et al.  Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. , 1998, Development.

[31]  P. Rigby,et al.  Endothelin‐1‐induced potentiation of human airway smooth muscle proliferation: an ETA receptor‐mediated phenomenon , 1996, British journal of pharmacology.

[32]  J. D. Elliott,et al.  Tyr-129 is important to the peptide ligand affinity and selectivity of human endothelin type A receptor. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[33]  J. Novotný,et al.  Mutation of peptide binding site in transmembrane region of a G protein-coupled receptor accounts for endothelin receptor subtype selectivity. , 1994, The Journal of biological chemistry.

[34]  Y. Ouchi,et al.  Elevated blood pressure and craniofaclal abnormalities in mice deficient in endothelin-1 , 1994, Nature.

[35]  S. Ratzel,et al.  This Month , 1990 .

[36]  E. F. Zimmerman,et al.  Glucocorticoid inhibition of RNA synthesis and the critical period for cleft palate induction in inbred mice. , 1973, Teratology.

[37]  H. Fuchs,et al.  Mouse phenotyping. , 2011, Methods.

[38]  H. Fuchs,et al.  Systemic first-line phenotyping. , 2009, Methods in molecular biology.

[39]  D. Clouthier,et al.  Fate of cranial neural crest cells during craniofacial development in endothelin-A receptor-deficient mice. , 2007, The International journal of developmental biology.

[40]  T. Gridley,et al.  Development of the mammalian ear: coordinate regulation of formation of the tympanic ring and the external acoustic meatus. , 1996, Development.