PMC Links for Nucleotide (Select 1676318526) - PMC

Select item 68622691.

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

Abstract Article PDF–3.1M

Select item 67426462.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 19149683.

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 13773244.

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 10512135.

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

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