Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Cecilia Contreras- Cubas"'
Autor:
Namibia Guadalupe Mendiola-Vidal, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Ana Lucia Yañez-Felix, Humberto García-Ortiz, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Carmen Alaez-Verson, Juan Luis Jiménez-Ruíz, Tulia Monge-Cázares, Esther Lieberman, Vicente Baca, José Luis Lezana, Angélica Martínez-Hernández, Lorena Orozco
Publikováno v:
Life, Vol 14, Iss 11, p 1445 (2024)
Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-ge
Externí odkaz:
https://doaj.org/article/781e1e7ecace456495f72d1528c97948
Autor:
Monserrat I. Morales-Rivera, Radamés Alemón-Medina, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Nelly F. Altamirano-Bustamante, Josefina Gómez-Garduño, Elvia C. Mendoza-Caamal, J. Orlando Nuñez-González, Raquel García-Álvarez, Cristina Revilla-Monsalve, José Antonio Valcarcel-Gamiño, José Rafael Villafan-Bernal, Federico Centeno-Cruz, Humberto García-Ortiz, Francisco Barajas-Olmos, Lorena Orozco
Publikováno v:
Pharmaceuticals, Vol 17, Iss 10, p 1385 (2024)
Background: Type 2 diabetes (T2D) is one of the leading causes of mortality and is a public health challenge worldwide. Metformin is the first-choice treatment for T2D; its pharmacokinetics (PK) is facilitated by members of the solute carrier (SLC) s
Externí odkaz:
https://doaj.org/article/8ddd17748e0345d0be4dbf504ebcd0ca
Autor:
Angélica Martínez-Hernández, Elvia C. Mendoza-Caamal, Namibia G. Mendiola-Vidal, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Juan Luis Jiménez-Ruiz, Tulia Monge-Cazares, Humberto García-Ortiz, Cecilia Contreras- Cubas, Federico Centeno-Cruz, Carmen Alaez-Verson, Soraya Ortega-Torres, Adriana del C. Luna-Castañeda, Vicente Baca, José Luis Lezana, Lorena Orozco
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28984- (2024)
Background: Molecular diagnosis of cystic fibrosis (CF) is challenging in Mexico due to the population's high genetic heterogeneity. To date, 46 pathogenic variants (PVs) have been reported, yielding a detection rate of 77%. We updated the spectrum a
Externí odkaz:
https://doaj.org/article/ce4c8142ceb54ebeaeeec00442c786a9
Autor:
Paulina Baca, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Carlos Zerrweck, Lizbeth Guilbert, Ernesto Carlos Sánchez, Marlen Flores-Huacuja, Rafael Villafán, Angélica Martínez-Hernández, Humberto García-Ortiz, Cecilia Contreras-Cubas, Federico Centeno-Cruz, Lorena Orozco
Publikováno v:
Nutrition & Diabetes, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Background Obesity is accompanied by excess adipose fat storage, which may lead to adipose dysfunction, insulin resistance, and type 2 diabetes (T2D). Currently, the tendency to develop T2D in obesity cannot be explained by genetic variation
Externí odkaz:
https://doaj.org/article/45ecd549e2fe42ed8da35d7f81b5b55d
Autor:
Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive invo
Externí odkaz:
https://doaj.org/article/1d8e4ff88a6045b3bef64e041e839b46
Autor:
Humberto García-Ortiz, Francisco Barajas-Olmos, Marlen Flores-Huacuja, Monserrat I. Morales-Rivera, Angélica Martínez-Hernández, Vicente Baca, Cecilia Contreras-Cubas, Lorena Orozco
Publikováno v:
Frontiers in Medicine, Vol 9 (2023)
ObjectiveHere we aimed to investigate the association of the Xq28 risk haplotype (H1) with susceptibility to childhood-onset systemic lupus erythematosus (SLE), and to compare its frequency and genetic structure in the Mexican population with those i
Externí odkaz:
https://doaj.org/article/8b62430afbe34f46aa3878d9b9209a33
Autor:
Humberto García-Ortiz, Francisco Barajas-Olmos, Cecilia Contreras-Cubas, Miguel Ángel Cid-Soto, Emilio J. Córdova, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Isabel Cicerón-Arellano, Marlen Flores-Huacuja, Paulina Baca, Deborah A. Bolnick, Meradeth Snow, Silvia Esperanza Flores-Martínez, Rocio Ortiz-Lopez, Austin W. Reynolds, Antonio Blanchet, Mirna Morales-Marín, Rafael Velázquez-Cruz, Aleksandar David Kostic, Carlos Galaviz-Hernández, Alejandra Guadalupe García-Zapién, José Concepción Jiménez-López, Guadalupe León-Reyes, Eva Gabriela Salas-Bautista, Blanca Patricia Lazalde-Ramos, Juan Luis Jiménez-Ruíz, Guadalupe Salas-Martínez, Jazmín Ramos-Madrigal, Elaheh Mirzaeicheshmeh, Yolanda Saldaña-Alvarez, María del Carmen Abrahantes-Pérez, Francisco Loeza-Becerra, Raúl Mojica-Espinosa, Federico Sánchez-Quinto, Héctor Rangel-Villalobos, Martha Sosa-Macías, José Sánchez-Corona, Augusto Rojas-Martinez, Angélica Martínez-Hernández, Lorena Orozco
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Indigenous populations, including in those in Mexico are underrepresented in genetic studies. Here, the authors perform a population genetics study of indigenous peoples in Mexico to explore demographic histories of the region in the context of geogr
Externí odkaz:
https://doaj.org/article/c86ceb211f3846cf9fd37b70fafef48a
Autor:
Wendoline Anaya-Morua, José Rafael Villafan-Bernal, Esther Ramírez-Moreno, Humberto García-Ortiz, Raigam Jafet Martínez-Portilla, Cecilia Contreras-Cubas, Angélica Martínez-Hernández, Federico Centeno-Cruz, Florencia Estefana Pedroza-Montoya, Lorena Orozco, Francisco Barajas-Olmos
Publikováno v:
Antioxidants, Vol 12, Iss 8, p 1512 (2023)
The total antioxidant capacity (TAC) has been related to the development of and complications associated with chronic diseases, but its importance during obesity is not entirely clear. We conducted a systematic review and meta-analysis to clarify whe
Externí odkaz:
https://doaj.org/article/51c8d04836fd49098707473de527de6a
Autor:
Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Sergio Islas-Andrade, Carlos Zerrweck, Humberto García-Ortiz, Lorena Orozco
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated a
Externí odkaz:
https://doaj.org/article/98d010576c734f148270342f40c20b4e
Autor:
Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and asses
Externí odkaz:
https://doaj.org/article/20bcc638047441c3919ace2b384c0600