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Items: 1 to 20 of 82

1.

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.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.

2.

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.

J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12.

PMID:
23315542
3.

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.

Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2.

PMID:
23913798
4.

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML.

Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1116. Am J Hum Genet. 2012 Aug 10;91(2):397.

5.

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.

Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.

6.

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G.

Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23.

PMID:
27007857
7.

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):306-17. doi: 10.1002/ajmg.c.31376. Epub 2013 Oct 4. Review.

8.

Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease.

Marivin A, Leyme A, Parag-Sharma K, DiGiacomo V, Cheung AY, Nguyen LT, Dominguez I, Garcia-Marcos M.

Sci Signal. 2016 Apr 12;9(423):ra37. doi: 10.1126/scisignal.aad2429.

9.

Ectodermal-derived Endothelin1 is required for patterning the distal and intermediate domains of the mouse mandibular arch.

Tavares AL, Garcia EL, Kuhn K, Woods CM, Williams T, Clouthier DE.

Dev Biol. 2012 Nov 1;371(1):47-56. doi: 10.1016/j.ydbio.2012.08.003. Epub 2012 Aug 11.

10.
11.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, 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 ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.

Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12.

12.

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.

Sato T, Kawamura Y, Asai R, Amano T, Uchijima Y, Dettlaff-Swiercz DA, Offermanns S, Kurihara Y, Kurihara H.

Development. 2008 Feb;135(4):755-65. doi: 10.1242/dev.012708. Epub 2008 Jan 16.

13.

Zebrafish furin mutants reveal intricacies in regulating Endothelin1 signaling in craniofacial patterning.

Walker MB, Miller CT, Coffin Talbot J, Stock DW, Kimmel CB.

Dev Biol. 2006 Jul 1;295(1):194-205. Epub 2006 Mar 30.

14.

phospholipase C, beta 3 is required for Endothelin1 regulation of pharyngeal arch patterning in zebrafish.

Walker MB, Miller CT, Swartz ME, Eberhart JK, Kimmel CB.

Dev Biol. 2007 Apr 1;304(1):194-207. Epub 2006 Dec 19.

15.

Association of genetic polymorphisms of endothelin-converting enzyme-1 gene with hypertension in a Japanese population and rare missense mutation in preproendothelin-1 in Japanese hypertensives.

Banno M, Hanada H, Kamide K, Kokubo Y, Kada A, Yang J, Tanaka C, Takiuchi S, Horio T, Matayoshi T, Yasuda H, Nagura J, Tomoike H, Kawano Y, Miyata T.

Hypertens Res. 2007 Jun;30(6):513-20.

PMID:
17664854
16.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR.

Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.

PMID:
28328130
17.

The evaluation of endothelin 1 (EDN1) and endothelin receptor type A (EDNRA) gene polymorphisms in Hashimoto's thyroiditis.

Aydin AF, Vural P, Oruç ÇU, Doğru-Abbasoğlu S, Özderya A, Karadağ B, Uysal M.

Int Immunopharmacol. 2014 Jul;21(1):181-5. doi: 10.1016/j.intimp.2014.04.023. Epub 2014 May 9.

PMID:
24815860
18.

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ.

PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.

19.

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.

J Clin Invest. 2000 Jul;106(2):271-9.

20.

An endothelin-1 switch specifies maxillomandibular identity.

Sato T, Kurihara Y, Asai R, Kawamura Y, Tonami K, Uchijima Y, Heude E, Ekker M, Levi G, Kurihara H.

Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18806-11. doi: 10.1073/pnas.0807345105. Epub 2008 Nov 18.

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