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10.1016/j.ajhg.2015.01.015 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2015.01.015 C4385188!4385188!25772936     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2015 ; 96 (4): 519-31 Nephropedia Template TP {{tp|p=25772936|t=2015. Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia |pdf=|usr=}}{{25772936}} gab.com Text Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25772936 #FOAvip The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch. We report four unrelated individuals with the syndrome mandibulofacial dysostosis with alopecia (MFDA) who have de novo missense variants in EDNRA. Three of the four individuals have the same substitution, p.Tyr129Phe. Tyr129 is known to determine the selective affinity of EDNRA for endothelin 1 (EDN1), its major physiological ligand, and the p.Tyr129Phe variant increases the affinity of the receptor for EDN3, its non-preferred ligand, by two orders of magnitude. The fourth individual has a somatic mosaic substitution, p.Glu303Lys, and was previously described as having Johnson-McMillin syndrome. The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw. Our in vitro and in vivo assays suggested complex, context-dependent effects of the EDNRA variants on downstream signaling. Our findings highlight the importance of finely tuned regulation of EDNRA signaling during human craniofacial development and suggest that modification of endothelin receptor-ligand specificity was a key step in the evolution of vertebrate jaws. Twit Text FOAVip Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25772936 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25772936 #FOAvip English Wikipedia <ref>{{Cite pmid|25772936}}</ref> Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia #MMPMID25772936 Gordon C; Weaver K; Zechi-Ceide R; Madsen E; Tavares A; Oufadem M; Kurihara Y; Adameyko I; Picard A; Breton S; Pierrot S; Biosse-Duplan M; Voisin N; Masson C; Bole-Feysot C; Nitschké P; Delrue MA; Lacombe D; Guion-Almeida M; Moura P; Garib D; Munnich A; Ernfors P; Hufnagel R; Hopkin R; Kurihara H; Saal H; Weaver D; Katsanis N; Lyonnet S; Golzio C; Clouthier D; Amiel J Am J Hum Genet 2015[Apr]; 96 (4): 519-31 PMID25772936show ga The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch. We report four unrelated individuals with the syndrome mandibulofacial dysostosis with alopecia (MFDA) who have de novo missense variants in EDNRA. Three of the four individuals have the same substitution, p.Tyr129Phe. Tyr129 is known to determine the selective affinity of EDNRA for endothelin 1 (EDN1), its major physiological ligand, and the p.Tyr129Phe variant increases the affinity of the receptor for EDN3, its non-preferred ligand, by two orders of magnitude. The fourth individual has a somatic mosaic substitution, p.Glu303Lys, and was previously described as having Johnson-McMillin syndrome. The zygomatic arch of individuals with MFDA resembles that of mice in which EDNRA is ectopically activated in the maxillary prominence, resulting in a maxillary to mandibular transformation, suggesting that the p.Tyr129Phe variant causes an EDNRA gain of function in the developing upper jaw. Our in vitro and in vivo assays suggested complex, context-dependent effects of the EDNRA variants on downstream signaling. Our findings highlight the importance of finely tuned regulation of EDNRA signaling during human craniofacial development and suggest that modification of endothelin receptor-ligand specificity was a key step in the evolution of vertebrate jaws. äMutations in the Endothelin Receptor Type A Cause Mandibulofacial Dyso(epmc).pdf DeepDyve Pubget Overpricing