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Items: 1 to 20 of 26

1.
Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia
Rebecca Williams, Stephanie Jobling, Andrew H. Sims, Chunyan Mou, Lorna Wilkinson, Giovanna M. Collu, Charles H. Streuli, Andrew P. Gilmore, Denis J. Headon, Keith Brennan
Oncogene. 2022; 41(7): 1040–1049. Published online 2021 Dec 16. doi: 10.1038/s41388-021-01902-6
PMCID:
PMC8837535
AbstractArticlePDF–3.3M
2.
Association of EDARV370A with breast density and metabolic syndrome in Latinos
Dawn K. Coletta, Leslea J. Hlusko, G. Richard Scott, Luis A. Garcia, Celine M. Vachon, Aaron D. Norman, Janet L. Funk, Gabriel Q. Shaibi, Valentina Hernandez, Eleanna De Filippis, Lawrence J. Mandarino
PLoS One. 2021; 16(10): e0258212. Published online 2021 Oct 7. doi: 10.1371/journal.pone.0258212
PMCID:
PMC8496850
AbstractArticlePDF–774K
3.
A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family
Hongyu Zhang, Xuanting Kong, Jiabao Ren, Shuo Yuan, Chunyan Liu, Yan Hou, Ye Liu, Lingqiang Meng, Guozhong Zhang, Qingqing Du, Wenjing Shen
Mol Genet Genomic Med. 2021 Jun; 9(6): e1684. Published online 2021 May 4. doi: 10.1002/mgg3.1684
PMCID:
PMC8222839
AbstractArticlePDF–1.7M
4.
The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction–diffusion system
Keiichi Kataoka, Hironori Fujita, Mutsumi Isa, Shimpei Gotoh, Akira Arasaki, Hajime Ishida, Ryosuke Kimura
Sci Rep. 2021; 11: 5143. Published online 2021 Mar 4. doi: 10.1038/s41598-021-84653-4
PMCID:
PMC7933414
AbstractArticlePDF–2.0M
5.
Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia
Jon Riddell, Chandana Basu Mallick, Guy S. Jacobs, Jeffrey J. Schoenebeck, Denis J. Headon
Eur J Hum Genet. 2020 Dec; 28(12): 1694–1702. Published online 2020 Jun 4. doi: 10.1038/s41431-020-0660-6
PMCID:
PMC7784991
AbstractArticlePDF–2.4M
6.
Hair shaft structures in EDAR induced ectodermal dysplasia
C. Stecksén-Blicks, C. Falk Kieri, D. Hägg, M. Schmitt-Egenolf
BMC Med Genet. 2015; 16: 79. Published online 2015 Sep 4. doi: 10.1186/s12881-015-0227-5
PMCID:
PMC4560089
AbstractArticlePDF–789K
7.
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation
Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf, Christina Stecksén-Blicks
BMC Med Genet. 2014; 15: 57. Published online 2014 May 16. doi: 10.1186/1471-2350-15-57
PMCID:
PMC4036832
AbstractArticlePDF–1.4M
8.
A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors
Ryosuke Kimura, Tetsutaro Yamaguchi, Mayako Takeda, Osamu Kondo, Takashi Toma, Kuniaki Haneji, Tsunehiko Hanihara, Hirotaka Matsukusa, Shoji Kawamura, Koutaro Maki, Motoki Osawa, Hajime Ishida, Hiroki Oota
Am J Hum Genet. 2009 Oct 9; 85(4): 528–535. doi: 10.1016/j.ajhg.2009.09.006
PMCID:
PMC2756549
AbstractArticlePDF–491K
9.
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.
L Ho, M S Williams, R A Spritz
Am J Hum Genet. 1998 May; 62(5): 1102–1106. doi: 10.1086/301839
PMCID:
PMC1377096
SummaryPDF–269K
10.
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Mol Genet Genomic Med. 2021 Jan; 9(1): e1555. Published online 2020 Nov 18. doi: 10.1002/mgg3.1555
PMCID:
PMC7963410
AbstractArticlePDF–1.4M
11.
Modeling recent human evolution in mice by expression of a selected EDAR variant
Yana G. Kamberov, Sijia Wang, Jingze Tan, Pascale Gerbault, Abigail Wark, Longzhi Tan, Yajun Yang, Shilin Li, Kun Tang, Hua Chen, Adam Powell, Yuval Itan, Dorian Fuller, Jason Lohmueller, Junhao Mao, Asa Schachar, Madeline Paymer, Elizabeth Hostetter, Elizabeth Byrne, Melissa Burnett, Andrew P. McMahon, Mark G. Thomas, Daniel E. Lieberman, Li Jin, Clifford J. Tabin, Bruce A. Morgan, Pardis C. Sabeti
Cell. Author manuscript; available in PMC 2014 Feb 14.
Published in final edited form as: Cell. 2013 Feb 14; 152(4): 691–702. doi: 10.1016/j.cell.2013.01.016
PMCID:
PMC3575602
AbstractArticlePDF–2.1M
12.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations
Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa I. Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat I. Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed
Genes (Basel) 2021 Sep; 12(9): 1389. Published online 2021 Sep 8. doi: 10.3390/genes12091389
PMCID:
PMC8468066
AbstractArticlePDF–6.2M
13.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
Asia Parveen, Sher Alam Khan, Muhammad Usman Mirza, Hina Bashir, Fatima Arshad, Maria Iqbal, Waseem Ahmad, Ahsan Wahab, Amal Fiaz, Sidra Naz, Fareeha Ashraf, Tayyaba Mobeen, Salman Aziz, Syed Shoaib Ahmed, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Nagwa E. Gaboon, Roquyya Gul, Saadullah Khan, Matheus Froeyen, Muhammad Shoaib, Naveed Wasif
Int J Mol Sci. 2019 Nov; 20(21): 5282. Published online 2019 Oct 24. doi: 10.3390/ijms20215282
PMCID:
PMC6862269
AbstractArticlePDF–3.1M
14.
The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death
Jonathan Vial, Amélie Royet, Philippe Cassier, Antonin Tortereau, Sarah Dinvaut, Denis Maillet, Lise Gratadou-Hupon, Marion Creveaux, Alexa Sadier, Garance Tondeur, Sophie Léon, Lauriane Depaepe, Sophie Pantalacci, Arnaud de la Fouchardière, Olivier Micheau, Stéphane Dalle, Vincent Laudet, Patrick Mehlen, Marie Castets
Cell Death Differ. 2019 Mar; 26(3): 443–454. Published online 2018 May 31. doi: 10.1038/s41418-018-0128-1
PMCID:
PMC6370843
AbstractArticlePDF–2.0M
15.
A genome-wide association study identifies multiple loci for variation in human ear morphology
Kaustubh Adhikari, Guillermo Reales, Andrew J. P. Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rosario Calderón, Javier Rosique, Michael Cheeseman, Mahmood F. Bhutta, Steve E. Humphries, Rolando Gonzalez-José, Denis Headon, David Balding, Andrés Ruiz-Linares
Nat Commun. 2015; 6: 7500. Published online 2015 Jun 24. doi: 10.1038/ncomms8500
PMCID:
PMC4491814
AbstractArticlePDF–2.9M
16.
Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte
Zhiqin Fang, Yutong Wang, Bo Huang, Xiang Chen, Rundong Jiang, Mingzhu Yin
Cell Death Dis. 2023 Sep; 14(9): 627. Published online 2023 Sep 22. doi: 10.1038/s41419-023-06134-y
PMCID:
PMC10517171
AbstractArticlePDF–9.7M
17.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Orphanet J Rare Dis. 2019; 14: 281. Published online 2019 Dec 3. doi: 10.1186/s13023-019-1251-x
PMCID:
PMC6892193
AbstractArticlePDF–577K
18.
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis
Wenjing Shen, Yue Wang, Yang Liu, Haochen Liu, Hongshan Zhao, Guozhong Zhang, Malcolm L. Snead, Dong Han, Hailan Feng
PLoS One. 2016; 11(5): e0154884. Published online 2016 May 4. doi: 10.1371/journal.pone.0154884
PMCID:
PMC4856323
AbstractArticlePDF–2.6M
19.
Signal peptide prediction based on analysis of experimentally verified cleavage sites
Zemin Zhang, William J. Henzel
Protein Sci. 2004 Oct; 13(10): 2819–2824. doi: 10.1110/ps.04682504
PMCID:
PMC2286551
AbstractArticlePDF–125K
20.
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study
Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators
Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452
PMCID:
PMC2945168
AbstractArticlePDF–153K

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