Similar articles for PMID: 25772936

Year	Number of Results
1949	2
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2024	0

1

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. Gordon CT, et al. Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772936 Free PMC article.

2

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.

Kurihara Y, Ekimoto T, Gordon CT, Uchijima Y, Sugiyama R, Kitazawa T, Iwase A, Kotani R, Asai R, Pingault V, Ikeguchi M, Amiel J, Kurihara H. Kurihara Y, et al. J Clin Invest. 2023 Feb 15;133(4):e151536. doi: 10.1172/JCI151536. J Clin Invest. 2023. PMID: 36637912 Free PMC article.

3

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.

Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE. Kanai SM, et al. Dis Model Mech. 2022 Apr 1;15(4):dmm049320. doi: 10.1242/dmm.049320. Epub 2022 Apr 29. Dis Model Mech. 2022. PMID: 35284927 Free PMC article.

4

ERN1 knockdown modifies the impact of glucose and glutamine deprivations on the expression of EDN1 and its receptors in glioma cells.

Minchenko DO, Khita OO, Tsymbal DO, Viletska YM, Sliusar MY, Yefimova YV, Levadna LO, Krasnytska DA, Minchenko OH. Minchenko DO, et al. Endocr Regul. 2021 May 21;55(2):72-82. doi: 10.2478/enr-2021-0009. Endocr Regul. 2021. PMID: 34020533 Free article.

5

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle.

Sieck RL, Fuller AM, Bedwell PS, Ward JA, Sanders SK, Xiang SH, Peng S, Petersen JL, Steffen DJ. Sieck RL, et al. Genes (Basel). 2020 Oct 22;11(11):1246. doi: 10.3390/genes11111246. Genes (Basel). 2020. PMID: 33105751 Free PMC article.

6

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.

Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A. Jacob A, et al. BMC Med Genet. 2020 Sep 17;21(1):182. doi: 10.1186/s12881-020-01121-y. BMC Med Genet. 2020. PMID: 32943010 Free PMC article.

7

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Nabil A, El Shafei S, El Shakankiri NM, Habib A, Morsy H, Maddirevula S, Alkuraya FS. Nabil A, et al. Eur J Med Genet. 2020 Jun;63(6):103917. doi: 10.1016/j.ejmg.2020.103917. Epub 2020 Mar 19. Eur J Med Genet. 2020. PMID: 32201334

8

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Pritchard AB, et al. Am J Med Genet A. 2020 May;182(5):1104-1116. doi: 10.1002/ajmg.a.61531. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32133772 Free PMC article.

9

Hypoxic regulation of EDN1, EDNRA, EDNRB, and ECE1 gene expressions in ERN1 knockdown U87 glioma cells.

Minchenko DO, Tsymbal DO, Riabovol OO, Viletska YM, Lahanovska YO, Sliusar MY, Bezrodnyi BH, Minchenko OH. Minchenko DO, et al. Endocr Regul. 2019 Oct 1;53(4):250-262. doi: 10.2478/enr-2019-0025. Endocr Regul. 2019. PMID: 31734650 Free article.

10

Endothelins (EDN1, EDN2, EDN3) and their receptors (EDNRA, EDNRB, EDNRB2) in chickens: Functional analysis and tissue distribution.

Liu H, Luo Q, Zhang J, Mo C, Wang Y, Li J. Liu H, et al. Gen Comp Endocrinol. 2019 Nov 1;283:113231. doi: 10.1016/j.ygcen.2019.113231. Epub 2019 Jul 24. Gen Comp Endocrinol. 2019. PMID: 31351053

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