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Select item 84968501.

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

Article PDF–774K

Select item 82228392.

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

Article PDF–1.7M

Select item 79334143.

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

Article PDF–2.0M

Select item 77849914.

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

Article PDF–2.4M

Select item 45600895.

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

Article PDF–789K

Select item 40368326.

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

Article PDF–1.4M

Select item 27565497.

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

Article PDF–491K

Select item 13770968.

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

Summary PDF–269K

Select item 79634109.

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

Article PDF–1.4M

Select item 357560210.

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

Article PDF–2.1M

Select item 846806611.

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

Article PDF–6.2M

Select item 686226912.

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

Article PDF–3.1M

Select item 637084313.

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

Article PDF–2.0M

Select item 449181414.

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

Article PDF–2.9M

Select item 1051717115.

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

Article PDF–9.7M

Select item 689219316.

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

Article PDF–577K

Select item 485632317.

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

Article PDF–2.6M

Select item 228655118.

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

Article PDF–125K

Select item 294516819.

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

Article PDF–153K

Select item 277583220.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Article PDF–2.8M

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