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Quoted phrase not found in phrase index: "Auriculocondylar syndrome 1"
Page 1
Syndromes of the first and second pharyngeal arches: A review.
Passos-Bueno MR, Ornelas CC, Fanganiello RD. Passos-Bueno MR, et al. Am J Med Genet A. 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. Am J Med Genet A. 2009. PMID: 19610085 Review.
The phenotype of the latter has several overlapping features with OAVS, but OAVS may exist in both sporadic and autosomal dominant forms. Mutations in the TCOF1 gene are predicted to cause premature termination codons, leading to haploinsuficiency of the protein treacle an …
The phenotype of the latter has several overlapping features with OAVS, but OAVS may exist in both sporadic and autosomal dominant forms. Mu …
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z. Zhang Y, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. Mol Genet Genomic Med. 2024. PMID: 38618928 Free PMC article. Review.
Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. ...
Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLC …
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315542
Missense heterozygous mutations in the phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to …
Missense heterozygous mutations in the phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting …
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
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. Gordon CT, et al. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268655 Free PMC article.
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. ...
Mutations in the genes coding for phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting activ …
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Romanelli Tavares VL, et al. Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16. Eur J Hum Genet. 2015. PMID: 25026904 Free PMC article.
Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNRA pathway during early pharyngeal arch patterning. ...
Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNRA pathway durin …
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X, Sun W, Wang J, Chu G, He R, Zhang B, Zhao Y. Liu X, et al. BMC Pregnancy Childbirth. 2021 Nov 17;21(1):780. doi: 10.1186/s12884-021-04238-x. BMC Pregnancy Childbirth. 2021. PMID: 34789173 Free PMC article.
This mutation caused an amino acid substitution of p.Ser47Asn in the highly conserved G1 motif, which was predicted to impair the guanine nucleotide-binding function. All ACS cases with GNAI3 mutations were literature reviewed, revealing female-dominated severe cases and r …
This mutation caused an amino acid substitution of p.Ser47Asn in the highly conserved G1 motif, which was predicted to impair the gua …
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Kido Y, et al. Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913798
Recently, phospholipase C, beta 4 (PLCB4) mutations were identified as the major cause of autosomal dominant ACS, with mutations of the PLCB4 catalytic domain predicted to have a dominant negative effect. In addition, one ACS patient born to related parents harbored a homo …
Recently, phospholipase C, beta 4 (PLCB4) mutations were identified as the major cause of autosomal dominant ACS, with mutations of the PLCB …
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Yanagi K, Morimoto N, Iso M, Abe Y, Okamura K, Nakamura T, Matsubara Y, Kaname T. Yanagi K, et al. J Hum Genet. 2021 Oct;66(10):1029-1034. doi: 10.1038/s10038-021-00915-z. Epub 2021 Mar 15. J Hum Genet. 2021. PMID: 33723370 Free PMC article.
The novel variant locates the guanine nucleotide-binding site, and the substitution was predicted to interfere with guanine nucleotide-binding by in silico structural analysis. ...
The novel variant locates the guanine nucleotide-binding site, and the substitution was predicted to interfere with guanine nucleotid …
Early childhood temperament predicts substance use in young adults.
Lahat A, Pérez-Edgar K, Degnan KA, Guyer AE, Lejuez CW, Ernst M, Pine DS, Fox NA. Lahat A, et al. Transl Psychiatry. 2012 Sep 4;2(9):e157. doi: 10.1038/tp.2012.87. Transl Psychiatry. 2012. PMID: 22948382 Free PMC article.
Our findings show that children's early temperament interacts with their striatal sensitivity to incentives in adolescence to predict their level of substance use in young adulthood. Those young adults who, as children, showed the highest levels of BI reported the greatest …
Our findings show that children's early temperament interacts with their striatal sensitivity to incentives in adolescence to predict …
Auriculo-condylar syndrome: further evidence for a new disorder.
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S. Guion-Almeida ML, et al. Am J Med Genet. 1999 Sep 10;86(2):130-3. doi: 10.1002/(sici)1096-8628(19990910)86:2<130::aid-ajmg8>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10449647