Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Guillermo del Angel"'
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Akademický článek
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA.
Autor: Christopher Negron, David A Pearlman, Guillermo Del Angel
Publikováno v: PLoS ONE, Vol 14, Iss 3, p e0214015 (2019)
Missense mutations can have disastrous effects on the function of a protein. And as a result, they have been implicated in numerous diseases. However, the majority of missense variants only have a nominal impact on protein function. Thus, the ability
Externí odkaz: https://doaj.org/article/ca52e03a08154adf8da005034f70833a
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3
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Autor: Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H. Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory J. Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S. Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G. Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J. Willis, Aaron R. Wolen, Thomas Defay.
Publikováno v: American journal of human genetics, vol 109, iss 9
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequenc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003
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4
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa
Autor: Guillermo del Angel, Eric T. Rush, Priya S. Kishnani, Shanggen Zhou
Publikováno v: Molecular Genetics and Metabolism. 133:113-121
Background Hypophosphatasia (HPP), a rare metabolic disease, can be inherited in an autosomal recessive (biallelic) or an autosomal dominant (monoallelic) manner. Most of the severe, early-onset, frequently lethal HPP in infants is acquired through r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad407b7755345d6c2b3510120b9b15f
https://doi.org/10.1016/j.ymgme.2021.03.011
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6
Functional characterization of 105 Factor H variants associated with HUS:lessons for variant classification
Autor: Emilia Arjona, Malkoa Michelena, Elena Gómez-Rubio, Richard J.H. Smith, Rui-Ru Ji, Renee X. Goodfellow, Yuzhou Zhang, Héctor Martín Merinero, Santiago Rodríguez de Córdoba, Guillermo del Angel
Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Blood
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy, and complement dysregulation due to pathogenic variants in factor H (FH) is a recognized cause. The clinical utility of genetic testing in aHUS is limited by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b0cab3d1cfb45eedadba73ad26a613
http://hdl.handle.net/10261/245480
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Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
Autor: Andrew Hutchinson, Guillermo del Angel, Nina K. Jain, Christen Forbes, John Reynders
Publikováno v: Human Mutation
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the variant effects on L
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d13b30ce9364aae8e3c6137c64cd8b
http://europepmc.org/articles/PMC6852163
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9
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia
Autor: Guillermo del Angel, Christopher Negron, Etienne Mornet, John Reynders, Thomas Steinbrecher
Publikováno v: Human Mutation
Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue‐nonspecific alkaline phosphatase (TNSALP) typically caused by ALPL gene mutations. HPP is heterogeneous, with clinical presentation correlating with residual TNSALP act
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e5984f4db473112ba0eeae34690c893
https://pubmed.ncbi.nlm.nih.gov/32160374
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10
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA
Autor: David A. Pearlman, Guillermo del Angel, Christopher Negron
Publikováno v: PLoS ONE
PLoS ONE, Vol 14, Iss 3, p e0214015 (2019)
Missense mutations can have disastrous effects on the function of a protein. And as a result, they have been implicated in numerous diseases. However, the majority of missense variants only have a nominal impact on protein function. Thus, the ability
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6238ab1ce5bdba603a2e7cb95b3ce37
http://europepmc.org/articles/PMC6424398
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