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Page 1
Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD. Lyons JJ, et al. J Exp Med. 2017 Apr 3;214(4):1201. doi: 10.1084/jem.2016143503082017c. Epub 2017 Mar 13. J Exp Med. 2017. PMID: 28289052 Free PMC article. No abstract available.
ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD. Lyons JJ, et al. J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. J Exp Med. 2017. PMID: 28126831 Free PMC article.
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
Murillo-Melo NM, Márquez-Quiróz LC, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero YS, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña JJ. Murillo-Melo NM, et al. Neuromuscul Disord. 2017 Dec;27(12):1106-1114. doi: 10.1016/j.nmd.2017.09.004. Epub 2017 Sep 21. Neuromuscul Disord. 2017. PMID: 29054426
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.
Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S; Diabetes Prevention Program Research Group; Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M; Broad Genomics Platform; Gabriel S; T2D-GENES Consortium; Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, Florez JC; SIGMA T2D Genetics Consortium. Mercader JM, et al. Diabetes. 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. Epub 2017 Aug 24. Diabetes. 2017. PMID: 28838971 Free PMC article.
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L. Mendoza-Caamal EC, et al. Orphanet J Rare Dis. 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. Orphanet J Rare Dis. 2021. PMID: 34193236 Free PMC article.
Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos.
Cid-Soto MA, Martínez-Hernández A, García-Ortíz H, Córdova EJ, Barajas-Olmos F, Centeno-Cruz F, Contreras-Cubas C, Mendoza-Caamal EC, Ciceron-Arellano I, Morales-Rivera MI, Jimenez-Ruiz JL, Salas-Martínez G, Saldaña-Álvarez Y, Revilla-Monsalve C, Islas-Andrade S, Orozco L. Cid-Soto MA, et al. Gene. 2018 Dec 30;679:160-171. doi: 10.1016/j.gene.2018.08.076. Epub 2018 Aug 31. Gene. 2018. PMID: 30176313
Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations.
Gómez R, Tapia-Guerrero YS, Cisneros B, Orozco L, Cerecedo-Zapata C, Mendoza-Caamal E, Leyva-Gómez G, Leyva-García N, Velázquez-Pérez L, Magaña JJ. Gómez R, et al. Among authors: mendoza caamal e. Genes (Basel). 2022 Jan 16;13(1):157. doi: 10.3390/genes13010157. Genes (Basel). 2022. PMID: 35052497 Free PMC article.
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias … See abstract for full author list ➔ Hindy G, et al. Am J Hum Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. Am J Hum Genet. 2022. PMID: 34932938 Free PMC article.
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim BJ, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O'Dushlaine C, Payne AJ, Pihoker C; Broad Genomics Platform; Post WS, Preuss M, Psaty BM, Vasan RS, Rayner NW, Reiner AP, Revilla-Monsalve C, Robertson NR, Santoro N, Schurmann C, So WY, Soberón X, Stringham HM, Strom TM, Tam CHT, Thameem F, Tomlinson B, Torres JM, Tracy RP, van Dam RM, Vujkovic M, Wang S, Welch RP, Witte DR, Wong TY, Atzmon G, Barzilai N, Blangero J, Bonnycastle LL, Bowden DW, Chambers JC, Chan E, Cheng CY, Cho YS, Collins FS, de Vries PS, Duggirala R, Glaser B, Gonzalez C, Gonzalez ME, Groop L, Kooner JS, Kwak SH… See abstract for full author list ➔ Flannick J, et al. Nature. 2019 Jun;570(7759):71-76. doi: 10.1038/s41586-019-1231-2. Epub 2019 May 22. Nature. 2019. PMID: 31118516 Free PMC article.
34 results