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ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: cruz munoz me. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Aug;41(6):1291-1302. doi: 10.1007/s10875-021-01052-0. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33954879 Free PMC article.
Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Oct;41(7):1708. doi: 10.1007/s10875-021-01075-7. J Clin Immunol. 2021. PMID: 34136975 No abstract available.
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: cruz munoz me. Mol Genet Metab Rep. 2021 Jul 2;28:100781. doi: 10.1016/j.ymgmr.2021.100781. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34277356 Free PMC article.
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: cruz munoz me. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
SLAMF7 selectively favors degranulation to promote cytotoxicity in human NK cells.
Gutierrez-Guerrero A, Mancilla-Herrera I, Maravillas-Montero JL, Martinez-Duncker I, Veillette A, Cruz-Munoz ME. Gutierrez-Guerrero A, et al. Among authors: cruz munoz me. Eur J Immunol. 2022 Jan;52(1):62-74. doi: 10.1002/eji.202149406. Epub 2021 Nov 14. Eur J Immunol. 2022. PMID: 34693521 Free article.
Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon.
Salinas-Marín R, Murakami Y, González-Domínguez CA, Cruz-Muñoz ME, Mora-Montes HM, Morava E, Kinoshita T, Monroy-Santoyo S, Martínez-Duncker I. Salinas-Marín R, et al. Among authors: cruz munoz me. Front Genet. 2022 Oct 17;13:971473. doi: 10.3389/fgene.2022.971473. eCollection 2022. Front Genet. 2022. PMID: 36324500 Free PMC article.
NK cells with decreased expression of multiple activating receptors is a dominant phenotype in pediatric patients with acute lymphoblastic leukemia.
Valenzuela-Vázquez L, Nuñez-Enriquez JC, Sánchez-Herrera J, Medina-Sanson A, Pérez-Saldivar ML, Jiménez-Hernández E, Martiín-Trejo JA, Del Campo-Martínez MLÁ, Flores-Lujano J, Amador-Sánchez R, Mora-Ríos FG, Peñaloza-González JG, Duarte-Rodríguez DA, Torres-Nava JR, Espinosa-Elizondo RM, Cortés-Herrera B, Flores-Villegas LV, Merino-Pasaye LE, Almeida-Hernández C, Ramírez-Colorado R, Solís-Labastida KA, Medrano-López F, Pérez-Gómez JA, Velázquez-Aviña MM, Martínez-Ríos A, Aguilar-De Los Santos A, Santillán-Juárez JD, Gurrola-Silva A, García-Velázquez AJ, Mata-Rocha M, Hernández-Echáurregui GA, Sepúlveda-Robles OA, Rosas-Vargas H, Mancilla-Herrera I, Jimenez-Morales S, Hidalgo-Miranda A, Martinez-Duncker I, Waight JD, Hance KW, Madauss KP, Mejía-Aranguré JM, Cruz-Munoz ME. Valenzuela-Vázquez L, et al. Among authors: cruz munoz me. Front Oncol. 2022 Nov 7;12:1023510. doi: 10.3389/fonc.2022.1023510. eCollection 2022. Front Oncol. 2022. PMID: 36419901 Free PMC article.
34 results