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

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

Abstract 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 been confirmed in in

Externí odkaz: https://doaj.org/article/9256e773405946d6b2a4f5503805f3aa

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

Endogenous and iatrogenic sources of variability in response to opioid therapy in Post-Surgical and injured orthopedic patients

Autor: Madhusudhan R. Yakkanti, Arthur L. Malkani, Gwendolyn A. McMillin, Cynthia Maluf, Paul J. Jannetto, Erik A. Korte, Loralie J. Langman, Whitney Wooderchak-Donahue, Saeed A. Jortani, Jeremy Gaskins, Brandi Hartley

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 522

Hydrocodone is the most prescribed opioid in the US. The objective was to evaluate associations between genetic, intrinsic, and extrinsic patient factors, plasma hydrocodone and metabolites, common side effects, and pain scores in a cohort of orthope

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad5abd263175550663b0ecd887a6137
https://pubmed.ncbi.nlm.nih.gov/34384754

Parkes Weber syndrome associated with two somatic pathogenic variants in

Autor: Josue A, Flores Daboub, Johanes Fred, Grimmer, Alice, Frigerio, Whitney, Wooderchak-Donahue, Ryan, Arnold, Jeff, Szymanski, Nicola, Longo, Pinar, Bayrak-Toydemir

Publikováno v: Cold Spring Harbor Molecular Case Studies

Parkes Weber syndrome is associated with autosomal dominant inheritance, caused by germline heterozygous inactivating changes in the RASA1 gene, characterized by multiple micro arteriovenous fistulas and segmental overgrowth of soft tissue and skelet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6ae83fbcf40795df1e7287226f59b382
https://pubmed.ncbi.nlm.nih.gov/32843429

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

Autor: Jamie, McDonald, Pinar, Bayrak-Toydemir, Desiree, DeMille, Whitney, Wooderchak-Donahue, Kevin, Whitehead

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 22(7)

Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia.Review of HHT center database for individuals with three or more

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d84bb1d057d9f68589a93fb9fab067fc
https://pubmed.ncbi.nlm.nih.gov/32300199