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Select item 101155201.

Association between Circulating Ectodysplasin A and Diabetic Kidney Disease

Xia Deng, Chang Guo, Huijuan Qin, Li Zhao, Yanyan Li, Zhicong Zhao, Haoxiang Li, Ling Yang, Dong Wang, Guoyue Yuan

J Diabetes Res. 2023; 2023: 5087761. Published online 2023 Apr 12. doi: 10.1155/2023/5087761

PMCID:: PMC10115520

Abstract Article PDF–437K

Select item 100940682.

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability

Xingyu Liu, Yuming Zhao, Junxia Zhu

Mol Genet Genomic Med. 2023 Apr; 11(4): e2119. Published online 2022 Nov 29. doi: 10.1002/mgg3.2119

PMCID:: PMC10094068

Abstract Article PDF–2.9M

Select item 99185063.

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants

Kang Yu, Chenhui Huang, Futang Wan, Cailing Jiang, Juan Chen, Xiuping Li, Feng Wang, Jian Wu, Ming Lei, Yiqun Wu

Nat Commun. 2023; 14: 767. Published online 2023 Feb 11. doi: 10.1038/s41467-023-36367-6

PMCID:: PMC9918506

Abstract Article PDF–14M

Select item 86062004.

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

Kang Yu, Yihan Shen, Cai‐Ling Jiang, Wei Huang, Feng Wang, Yi‐Qun Wu

Mol Genet Genomic Med. 2021 Nov; 9(11): e1824. Published online 2021 Sep 28. doi: 10.1002/mgg3.1824

PMCID:: PMC8606200

Abstract Article PDF–1.1M

Select item 79703005.

Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes

Jacqueline Bayliss, Geraldine J. Ooi, William De Nardo, Yazmin Johari Halim Shah, Magdalene K. Montgomery, Catriona McLean, William Kemp, Stuart K. Roberts, Wendy A. Brown, Paul R. Burton, Matthew J. Watt

Front Endocrinol (Lausanne) 2021; 12: 642432. Published online 2021 Mar 4. doi: 10.3389/fendo.2021.642432

PMCID:: PMC7970300

Abstract Article PDF–1.0M

Select item 62865156.

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a

Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo, Chang Chen

BMC Med Genet. 2018; 19: 209. Published online 2018 Dec 7. doi: 10.1186/s12881-018-0726-2

PMCID:: PMC6286515

Abstract Article PDF–2.7M

Select item 41592727.

Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Tanmoy Sarkar, Rajesh Bansal, Parimal Das

PLoS One. 2014; 9(9): e106811. Published online 2014 Sep 9. doi: 10.1371/journal.pone.0106811

PMCID:: PMC4159272

Abstract Article PDF–1.6M

Select item 36338488.

Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers

Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

PLoS One. 2013; 8(4): e62203. Published online 2013 Apr 23. doi: 10.1371/journal.pone.0062203

Correction in:: PLoS One. 2013; 8(9): 10.1371/annotation/4d6c4127-82e4-408d-af89-5f2e207d523b.

PMCID:: PMC3633848

Abstract Article PDF–677K

Select item 33179849.

EDA Gene Mutations Underlie Non-syndromic Oligodontia

S. Song, D. Han, H. Qu, Y. Gong, H. Wu, X. Zhang, N. Zhong, H. Feng

J Dent Res. 2009 Feb; 88(2): 126–131. doi: 10.1177/0022034508328627

PMCID:: PMC3317984

Abstract Article PDF–240K

Select item 299280710.

A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia

Mazen Kurban, Eleni Michailidis, Muhammad Wajid, Yutaka Shimomura, Angela M. Christiano

Dermatology. 2010 Oct; 221(3): 243–247. Published online 2010 Jul 13. doi: 10.1159/000314329

PMCID:: PMC2992807

Abstract Article PDF–226K

Select item 279511311.

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

Gabriele Mues, Aubry Tardivel, Laure Willen, Hitesh Kapadia, Robyn Seaman, Sylvia Frazier-Bowers, Pascal Schneider, Rena N D'Souza

Eur J Hum Genet. 2010 Jan; 18(1): 19–25. Published online 2009 Jul 22. doi: 10.1038/ejhg.2009.127

PMCID:: PMC2795113

Abstract Article PDF–315K

Select item 240593012.

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, Jian Cheng, Bingrong Zhou, Xin Tong, Xiangbai Dong, Zixing Wang, Qingang Hu, Meng Chen, Zi-Chun Hua

PLoS One. 2008; 3(6): e2396. Published online 2008 Jun 11. doi: 10.1371/journal.pone.0002396

PMCID:: PMC2405930

Abstract Article PDF–1.1M

Select item 191496813.

Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.

A. K. Srivastava, O. Montonen, U. Saarialho-Kere, E. Chen, P. Baybayan, J. Pispa, J. Limon, D. Schlessinger, J. Kere

Am J Hum Genet. 1996 Jan; 58(1): 126–132.

PMCID:: PMC1914968

Summary Page Browse PDF–1.5M

Select item 137732414.

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

A W Monreal, J Zonana, B Ferguson

Am J Hum Genet. 1998 Aug; 63(2): 380–389. doi: 10.1086/301984

Correction in:: Am J Hum Genet, volume 63 on page 1253

PMCID:: PMC1377324

Summary PDF–1.1M

Select item 105121315.

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

B M Ferguson, N S Thomas, F Munoz, D Morgan, A Clarke, J Zonana

J Med Genet. 1998 Feb; 35(2): 112–115. doi: 10.1136/jmg.35.2.112

PMCID:: PMC1051213

Summary Page Browse PDF–749K

Select item 796341016.

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

Abstract Article PDF–1.4M

Select item 574269417.

Ectodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway

Sanming Li, Jing Zhou, Liying Zhang, Juan Li, Jingwen Yu, Ke Ning, Yangluowa Qu, Hui He, Yongxiong Chen, Peter S. Reinach, Chia‐Yang Liu, Zuguo Liu, Wei Li

J Cell Mol Med. 2018 Jan; 22(1): 230–240. Published online 2017 Aug 7. doi: 10.1111/jcmm.13311

PMCID:: PMC5742694

Abstract Article PDF–939K

Select item 555519818.

Ectodysplasin A protein promotes corneal epithelial cell proliferation

Sanming Li, Jing Zhou, Jinghua Bu, Ke Ning, Liying Zhang, Juan Li, Yuli Guo, Xin He, Hui He, Xiaoxin Cai, Yongxiong Chen, Peter Sol Reinach, Zuguo Liu, Wei Li

J Biol Chem. 2017 Aug 11; 292(32): 13391–13401. Published online 2017 Jun 27. doi: 10.1074/jbc.M117.803809