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10.1016/j.ajhg.2013.10.023 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2013.10.023 C3853412!3853412 !24268655     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 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 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24268655 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2013 ; 93 (6 ): 1118-25 Nephropedia Template TP {{tp|p=24268655 |t=2013. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears |pdf=|usr=}}{{24268655 }} gab.com Text Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24268655 #FOAvip Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the genes coding for phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS. By whole-exome sequencing (WES), we identified a homozygous substitution in a furin cleavage site of the EDN1 proprotein in ACS-affected siblings born to consanguineous parents. WES of two cases with vertical transmission of isolated QMEs revealed a stop mutation in EDN1 in one family and a missense substitution of a highly conserved residue in the mature EDN1 peptide in the other. Targeted sequencing of EDN1 in an ACS individual with related parents identified a fourth, homozygous mutation falling close to the site of cleavage by endothelin-converting enzyme. The different modes of inheritance suggest that the degree of residual EDN1 activity differs depending on the mutation. These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. Twit Text FOAVip Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24268655 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24268655 #FOAvip English Wikipedia <ref>{{Cite pmid|24268655 }}</ref> Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears #MMPMID24268655 Gordon CT ; Petit F ; Kroisel PM ; Jakobsen L ; Zechi-Ceide RM ; Oufadem M ; Bole-Feysot C ; Pruvost S ; Masson C ; Tores F ; Hieu T ; Nitschké P ; Lindholm P ; Pellerin P ; Guion-Almeida ML ; Kokitsu-Nakata NM ; Vendramini-Pittoli S ; Munnich A ; Lyonnet S ; Holder-Espinasse M ; Amiel J Am J Hum Genet 2013[Dec]; 93 (6 ): 1118-25 PMID24268655 show ga Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the genes coding for phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS. By whole-exome sequencing (WES), we identified a homozygous substitution in a furin cleavage site of the EDN1 proprotein in ACS-affected siblings born to consanguineous parents. WES of two cases with vertical transmission of isolated QMEs revealed a stop mutation in EDN1 in one family and a missense substitution of a highly conserved residue in the mature EDN1 peptide in the other. Targeted sequencing of EDN1 in an ACS individual with related parents identified a fourth, homozygous mutation falling close to the site of cleavage by endothelin-converting enzyme. The different modes of inheritance suggest that the degree of residual EDN1 activity differs depending on the mutation. These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway. |*Genes, Dominant [MESH] |*Genes, Recessive [MESH] |*Mutation [MESH] |*Phenotype [MESH] |Amino Acid Sequence [MESH] |Amino Acid Substitution [MESH] |DNA Mutational Analysis [MESH] |Ear Diseases/diagnosis/*genetics/metabolism [MESH] |Ear/*abnormalities [MESH] |Endothelin-1/genetics/metabolism [MESH] |Female [MESH] |Genotype [MESH] |Humans [MESH] |Male [MESH] |Molecular Sequence Data [MESH] |Pedigree [MESH] |Sequence Alignment [MESH]Mutations in endothelin 1 cause recessive auriculocondylar syndrome an(epmc).pdf DeepDyve Pubget Overpricing