Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient

Autor: Rosa Catapano, Filippo Russo, Marco Rosetti, Giovanni Poletti, Silvia Trombetti, Raffaele Sessa, Tommaso Fasano, Sauro Maoggi, Sante Roperto, Michela Grosso

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-5 (2024)

Externí odkaz: https://doaj.org/article/59e5867c8eee41b0be41025d1955d5d7

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape

Autor: Qing Li, Jieyi Chen, Pierre Faux, Miguel Eduardo Delgado, Betty Bonfante, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, J. Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Sijie Wu, Siyuan Du, Andrea Giardina, Soumya Subhra Paria, Mahfuzur Rahman Khokan, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Winston Rojas, Francisco Rothhammer, Nicolas Navarro, Sijia Wang, Kaustubh Adhikari, Andrés Ruiz-Linares

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)

Abstract We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value

Externí odkaz: https://doaj.org/article/5c1a3dadff9443b1a106b728742be5d4

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Autor: Lindsay Fernández-Rhodes, Mariaelisa Graff, Victoria L. Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu, Hung-Hsin Chen, Kristin L. Young, Kaustubh Adhikari, Nicholette D. Palmer, Jennifer E. Below, Jonathan Bradfield, Alexandre C. Pereira, LáShauntá Glover, Daeeun Kim, Adam G. Lilly, Poojan Shrestha, Alvin G. Thomas, Xinruo Zhang, Minhui Chen, Charleston W.K. Chiang, Sara Pulit, Andrea Horimoto, Jose E. Krieger, Marta Guindo-Martínez, Michael Preuss, Claudia Schumann, Roelof A.J. Smit, Gabriela Torres-Mejía, Victor Acuña-Alonzo, Gabriel Bedoya, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Rolando González-José, Giovanni Poletti, Francisco Rothhammer, Hakon Hakonarson, Robert Igo, Sharon G. Adler, Sudha K. Iyengar, Susanne B. Nicholas, Stephanie M. Gogarten, Carmen R. Isasi, George Papnicolaou, Adrienne M. Stilp, Qibin Qi, Minjung Kho, Jennifer A. Smith, Carl D. Langefeld, Lynne Wagenknecht, Roberta Mckean-Cowdin, Xiaoyi Raymond Gao, Darryl Nousome, David V. Conti, Ye Feng, Matthew A. Allison, Zorayr Arzumanyan, Thomas A. Buchanan, Yii-Der Ida Chen, Pauline M. Genter, Mark O. Goodarzi, Yang Hai, Willa Hsueh, Eli Ipp, Fouad R. Kandeel, Kelvin Lam, Xiaohui Li, Jerry L. Nadler, Leslie J. Raffel, Kathryn Roll, Kevin Sandow, Jingyi Tan, Kent D. Taylor, Anny H. Xiang, Jie Yao, Astride Audirac-Chalifour, Jose de Jesus Peralta Romero, Fernando Hartwig, Bernando Horta, John Blangero, Joanne E. Curran, Ravindranath Duggirala, Donna E. Lehman, Sobha Puppala, Laura Fejerman, Esther M. John, Carlos Aguilar-Salinas, Noël P. Burtt, Jose C. Florez, Humberto García-Ortíz, Clicerio González-Villalpando, Josep Mercader, Lorena Orozco, Teresa Tusié-Luna, Estela Blanco, Sheila Gahagan, Nancy J. Cox, Craig Hanis, Nancy F. Butte, Shelley A. Cole, Anthony G. Comuzzie, V. Saroja Voruganti, Rebecca Rohde, Yujie Wang, Tamar Sofer, Elad Ziv, Struan F.A. Grant, Andres Ruiz-Linares, Jerome I. Rotter, Christopher A. Haiman, Esteban J. Parra, Miguel Cruz, Ruth J.F. Loos, Kari E. North

Publikováno v: HGG Advances, Vol 4, Iss 1, Pp 100149- (2023)

Externí odkaz: https://doaj.org/article/0972e4eb8a0442ae9963f4515576db6a

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Autor: Lindsay Fernández-Rhodes, Mariaelisa Graff, Victoria L. Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu, Hung-Hsin Chen, Kristin L. Young, Kaustubh Adhikari, Nicholette D. Palmer, Jennifer E. Below, Jonathan Bradfield, Alexandre C. Pereira, LáShauntá Glover, Daeeun Kim, Adam G. Lilly, Poojan Shrestha, Alvin G. Thomas, Xinruo Zhang, Minhui Chen, Charleston W.K. Chiang, Sara Pulit, Andrea Horimoto, Jose E. Krieger, Marta Guindo-Martínez, Michael Preuss, Claudia Schumann, Roelof A.J. Smit, Gabriela Torres-Mejía, Victor Acuña-Alonzo, Gabriel Bedoya, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Rolando González-José, Giovanni Poletti, Francisco Rothhammer, Hakon Hakonarson, Robert Igo, Sharon G. Adler, Sudha K. Iyengar, Susanne B. Nicholas, Stephanie M. Gogarten, Carmen R. Isasi, George Papnicolaou, Adrienne M. Stilp, Qibin Qi, Minjung Kho, Jennifer A. Smith, Carl D. Langefeld, Lynne Wagenknecht, Roberta Mckean-Cowdin, Xiaoyi Raymond Gao, Darryl Nousome, David V. Conti, Ye Feng, Matthew A. Allison, Zorayr Arzumanyan, Thomas A. Buchanan, Yii-Der Ida Chen, Pauline M. Genter, Mark O. Goodarzi, Yang Hai, Willa Hsueh, Eli Ipp, Fouad R. Kandeel, Kelvin Lam, Xiaohui Li, Jerry L. Nadler, Leslie J. Raffel, Kathryn Roll, Kevin Sandow, Jingyi Tan, Kent D. Taylor, Anny H. Xiang, Jie Yao, Astride Audirac-Chalifour, Jose de Jesus Peralta Romero, Fernando Hartwig, Bernando Horta, John Blangero, Joanne E. Curran, Ravindranath Duggirala, Donna E. Lehman, Sobha Puppala, Laura Fejerman, Esther M. John, Carlos Aguilar-Salinas, Noël P. Burtt, Jose C. Florez, Humberto García-Ortíz, Clicerio González-Villalpando, Josep Mercader, Lorena Orozco, Teresa Tusié-Luna, Estela Blanco, Sheila Gahagan, Nancy J. Cox, Craig Hanis, Nancy F. Butte, Shelley A. Cole, Anthony G. Comuzzie, V. Saroja Voruganti, Rebecca Rohde, Yujie Wang, Tamar Sofer, Elad Ziv, Struan F.A. Grant, Andres Ruiz-Linares, Jerome I. Rotter, Christopher A. Haiman, Esteban J. Parra, Miguel Cruz, Ruth J.F. Loos, Kari E. North

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100099- (2022)

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To addr

Externí odkaz: https://doaj.org/article/15abb0171a3441e4bc460a26e6cdd18c

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Autor: Juan-Camilo Chacón-Duque, Kaustubh Adhikari, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, Victor Acuña-Alonzo, Rodrigo Barquera, Mirsha Quinto-Sánchez, Jorge Gómez-Valdés, Paola Everardo Martínez, Hugo Villamil-Ramírez, Tábita Hünemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Mercedes Villena, René Vásquez, Elena Llop, José R. Sandoval, Alberto A. Salazar-Granara, Maria-Laura Parolin, Karla Sandoval, Rosenda I. Peñaloza-Espinosa, Hector Rangel-Villalobos, Cheryl A. Winkler, William Klitz, Claudio Bravi, Julio Molina, Daniel Corach, Ramiro Barrantes, Verónica Gomes, Carlos Resende, Leonor Gusmão, Antonio Amorim, Yali Xue, Jean-Michel Dugoujon, Pedro Moral, Rolando González-José, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Gabriel Bedoya, Francisco Rothhammer, David Balding, Garrett Hellenthal, Andrés Ruiz-Linares

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

Latin Americans trace their ancestry to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Here, the authors develop a novel haplotype-based approach and analyse over 6,500 Latin Americans to infer the geographically-detailed gene

Externí odkaz: https://doaj.org/article/1bf119c84db44cd5b09c50f6b00d3141