Genetic Variants Associated with Port-Wine Stains.

Autor: Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T Tan, Rebecca Margraf, David A Stevenson, J Fredrik Grimmer, Pinar Bayrak-Toydemir

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0133158 (2015)

Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular developme

Externí odkaz: https://doaj.org/article/9d44737acfd34b0d9148837db4481c6c

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an 'HHT‐like' syndrome in children

Autor: Pinar Bayrak-Toydemir, Lidia Ruiz-Llorente, Oliver Quarrell, Katie Bergstrom, Jamie McDonald, Robin Condliffe, Nicholas W. Morrell, Kelechi Ugonna, Rebecca Mason, Jennifer M. Martin, David Moore, Carmelo Bernabeu, Paul D. Upton, Whitney Wooderchak-Donahue, Joshua Hodgson, James R. Bentham

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname

13 p.-3 fig.-1 tab.
Background: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7a16795400046c1a9b441ef1edac08
https://doaj.org/article/9256e773405946d6b2a4f5503805f3aa

Potential Utility of Pre-Emptive Germline Pharmacogenetics in Breast Cancer

Autor: Mei Wei, Philip S. Bernard, Baiju G Parikh, Whitney Wooderchak-Donahue, Kevin C. Wood, Steven M. Bray, Gwendolyn A. McMillin

Publikováno v: Cancers, Vol 13, Iss 1219, p 1219 (2021)
Cancers
Volume 13
Issue 6

Simple Summary Breast cancer outcomes are variable due to differences in tumor biology, patient biology, and treatment. The likelihood of developing cancer and other diseases increases with age. Thus, many patients with breast cancer have multiple co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103bbb1a1a0d11c6b1f0ff2961126806
https://www.mdpi.com/2072-6694/13/6/1219

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Autor: Jamie McDonald, Peter Johnson, Jennifer Thomson, Pinar Bayrak-Toydemir, Gulsen Akay, Chad Vansant-Webb, Rebecca L. Margraf, Eric Briggs, Andrew Farrell, Angela E. Lin, Reed E. Pyeritz, Matt Velinder, Gabor T. Marth, Kevin J. Whitehead, Whitney Wooderchak-Donahue

Publikováno v: Journal of Medical Genetics. 55:824-830

IntroductionHereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG, ACVRL1, and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d78132f404d57e571a4c2bbb8902beb5
https://doi.org/10.1136/jmedgenet-2018-105561

Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Autor: Lidia Ruiz-Llorente, Carmelo Bernabeu, Eric Briggs, Whitney Wooderchak-Donahue, Jamie McDonald, Mark S. Chesnutt, Pinar Bayrak-Toydemir

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Human Genetics

7 p.-4 fig.
Hereditary hemorrhagic telangiectasia (HHT) is a vascular disease characterized by nose and gastrointestinal bleeding, telangiectases in skin and mucosa, and arteriovenous malformations in major internal organs. Most patients carry a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd44d99ed13fba96faef4e0c76e9d3a
http://hdl.handle.net/10261/176286