Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Mario E Cruz-Muñoz"'
Autor:
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α
Externí odkaz:
https://doaj.org/article/79c48e7605864d46adf586bb565c6aa1
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/16f9a7c36b8c4e668090bb6fa6040a84
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosy
Externí odkaz:
https://doaj.org/article/31a570422e514fc1967b53252d47ed25
Publikováno v:
Frontiers in Microbiology, Vol 8 (2018)
Viruses are the most abundant and diverse biological entities in the planet. Historically, our main interest in viruses has focused on their pathogenic role, recognized by pandemics that have decimated the world population. However, viral infections
Externí odkaz:
https://doaj.org/article/96489d9c1e614359b6341d17c7040cc2
Autor:
André Veillette, Iván Martínez-Duncker, Ismael Mancilla‐Herrera, Mario E. Cruz Muñoz, Arturo Gutierrez-Guerrero, José L. Maravillas-Montero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14f4d531b65bc0114e73664920d2f49a
https://doi.org/10.1002/eji.202149406/v2/response1
https://doi.org/10.1002/eji.202149406/v2/response1
Autor:
Iván Martínez-Duncker, André Veillette, Ismael Mancilla-Herrera, Arturo Gutierrez-Guerrero, José L. Maravillas-Montero, Mario E Cruz-Muñoz
Publikováno v:
European journal of immunologyReferences. 52(1)
NK cells play an important role in immunity by recognizing and eliminating cells undergoing infection or malignant transformation. This role is dependent on the ability of NK cells to lyse targets cells in a perforin-dependent mechanism and by secret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f44e5b934a4d3cb8e7bcf765b47880
https://pubmed.ncbi.nlm.nih.gov/34693521
https://pubmed.ncbi.nlm.nih.gov/34693521
Autor:
Sara Elva Espinosa-Padilla, Selma Scheffler-Mendoza, Marco Antonio Yamazaki-Nakashimada, Saúl Oswaldo Lugo-Reyes, Carola Duran McKinster, Lina Maria Castano-Jaramillo, Maria Del Mar Saez-de-Ocariz Gutierrez, Mario E Cruz Muñoz
Publikováno v:
Scandinavian Journal of Immunology. 93
Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consangu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1861eab827e544d86f083d07eaba6cb
https://doi.org/10.1111/sji.13034
https://doi.org/10.1111/sji.13034
Autor:
Selma Scheffler-Mendoza, Edna Venegas-Montoya, Jorge Yáñez, Julie E. Niemela, Iván Martínez-Duncker, Guillermo Wakida, Karol Carrillo-Sánchez, Laura Berrón-Ruiz, Saúl Oswaldo Lugo-Reyes, Carolina Molina-Garay, Luigi D. Notarangelo, Mario E Cruz-Muñoz, Nina Pastor, Carmen Alaez-Verson, Aidé Tamara Staines-Boone, Paul Gaytán, Sara Elva Espinosa-Padilla, Marco Antonio Yamazaki-Nakashimada, Maria Enriqueta Nuñez-Nuñez, Luis Leonardo Flores-Lagunes, Edith González-Serrano, Ana Paola Macías-Robles, Sergio D. Rosenzweig
Publikováno v:
J Clin Immunol
Mutations in Recombinase Activating Genes 1 and 2 (RAG1/2) results in human severe combined immunodeficiency (SCID). The products of these genes, are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Nonsense m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e50a76f2cc823e4adadcd4cb406d5d2
https://pubmed.ncbi.nlm.nih.gov/34136975
https://pubmed.ncbi.nlm.nih.gov/34136975
Autor:
Ana González-Jaimes, Anallely Muñoz-Rivas, Marco Jiménez-Olivares, Mario E Cruz-Muñoz, F. Olvera-Rodriguez, Carmen Alaez-Verson, Iván Martínez-Duncker, Héctor M. Mora-Montes, Carolina Molina-Garay, Roberta Salinas-Marín, M. Rodríguez-Morales, Karol Carrillo-Sánchez, K. Beutelspacher, Carlos Alberto González-Domínguez, Sandra Manrique-Hernández, Luis Leonardo Flores-Lagunes, C.E. Villarroel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100781-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bba0f6ed9bc23e287e5b18385164c1
https://doi.org/10.1016/j.ymgmr.2021.100781
https://doi.org/10.1016/j.ymgmr.2021.100781
Autor:
Nina Pastor, Lucero Valenzuela-Vázquez, Jorge Yáñez, Maria Elena Bravo-Adame, Gabriela López-Herrera, Miguel Ruiz-Fernandez, Beatriz Adriana Llamas-Guillén, Tania M Villanueva-Cabello, Sara Elva Espinosa-Padilla, André Veillette, Mario E Cruz-Muñoz, Maria Edith González-Serrano, Paul Gaytán, Iván Martínez-Duncker
Publikováno v:
Web of Science
• Two novel mutations in ZAP70 in a patient with an early-onset immunodeficiency are described.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079ed1e2cc56ad003957efb22778e45b
https://doi.org/10.1016/j.clim.2017.09.005
https://doi.org/10.1016/j.clim.2017.09.005