Results 181 to 190 of about 2,879,199 (292)

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Whole-genome duplication shaped cell-type evolution in the vertebrate brain. [PDF]

Nature
Zhu Y, Zhang S, Wei J, Dolgetta-Garcia D, Jindrich K, Liu H, Shi C, Pan R, Chen Y, Xu Y, Li Q, Wagner GP, Holland PWH, Li G, Shimeld SM.   +14 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Profiling cell proliferation after whole-genome duplication in human cells. [PDF]

Biol Open
Yang G, Inoko M, Ogura K, Ishida-Ishihara S, Tsukada Y, Funahashi A, Sato M, Uehara R.   +7 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Environmental and Genetic Effects on the Composition of Palm Oil From Hybrid Plant Clones of Caiaué and Oil Palm

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT The interspecific hybrids (IEH OxG) obtained from the crossing of Elaeis oleifera (Eo) and Elaeis guineensis (Eg) are resistant to some diseases that affect Eg in some regions of South America, and commercial growing in several countries has been established.
Rosemar Antoniassi, Ricardo Lopes, Sidney Pacheco, Allan Eduardo Wilhelm, Rui Alberto Gomes Junior, Adelia Ferreira de Faria‐Machado, Raimundo Nonato Vieira Cunha   +6 more
wiley   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Evolutionary trajectories of teleost olfactory signaling genes shaped by long-term redundancy after whole-genome duplication. [PDF]

iScience
Nagasawa T, Fujisaki H, Ogo T, Nikaido M.   +3 more
europepmc   +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez, Gonzalo Borrego‐Yaniz, José Hernández‐Rodríguez, Carlo Salvarani, María Cinta Cid, Ann W. Morgan, International GCA Consortium, UK GCA Consortium, Santos Castañeda, Roser Solans, Jaume Mestre‐Torres, Norberto Ortego‐Centeno, José Luis Callejas, Luis Caminal‐Montero, Marc Corbera‐Bellalta, Eugenio de Miguel, J. Bernardino Díaz‐López, María Jesús García‐Villanueva, Carmen Gómez‐Vaquero, Mercedes Guijarro‐Rojas, Ana Hidalgo‐Conde, Begoña Marí, Agustín Martínez‐Berriochoa, Inmaculada C. Morado, Javier Narváez, Marc Ramentol‐Sintas, Aleida Martínez‐Zapico, Víctor Manuel Martínez‐Taboada, José A. Miranda‐Filloy, Jordi Monfort, Mercedes Pérez‐Conesa, Sergio Prieto‐González, Enrique Raya, Raquel Ríos‐Fernández, Julio Sánchez‐Martín, Bernardo Sopeña, Laura Tío, Ainhoa Unzurrunzaga, Peter A Merkel, Nader Khalidi, Carol A. Langford, Steven Ytterberg, Simon Carette, Sharon Chung, David Cuthbertson, Lindsy J. Forbess, Ora Gewurz‐Singer, Gary S. Hoffman, Curry L. Koening, Kathleen M. Maksimowicz‐McKinnon, Carol A. McAlear, Larry W. Moreland, Christian Pagnoux, Philip Seo, Ulrich Specks, Robert F. Spiera, Antoine Sreih, Kenneth J. Warrington, Paul A. Monach, Michael Weisman, Augusto Vaglio, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Marco A Cimmino, Carlo Salvarani, Torsten Witte, Thomas Neumann, Julia Holle, Verena Schönau, Peter Lamprecht, Sebastian Klapa, Gregory Pugnet, Thomas Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P. Diamantopoulo, Alexandre Voskuyl, Yannick van Sleen, Elisabeth Brouwer, Thomas Daikeler, Christoph T. Berger, Eamonn S. Molloy, Sarah L Mackie, Louise Sorensen, Lubna Haroon‐Raashid, Steve Martin, James I Robinson, Oliver Wordsworth, Isobel Whitwell, Jessica Brock, Victoria Douglas, Chamila Hettiarachchi, Jacqui Bartholomew, Stephen Jarrett, Gayle Smithson, Michael Green, Pearl Clark Brown, Cathy Lawson, Esther Gordon, Suzanne Lane, Rebecca Francis, Bhaskar Dasgupta, Bridgett Masunda, Jo Calver, Yusuf Patel, Charlotte Thompson, Louise Gregory, Sarah Levy, Ajit Menon, Amy Thompson, Lisa Dyche, Michael Martin, Charles Li, Ramasharan Laxminarayan, Louise Wilcox, Ralph de Guzman, John Isaacs, Alice Lorenzi, Gary Reynolds, Ross Farley, Helain Hinchcliffe‐Hume, Victoria Bejarano, Susan Hope, Pradip Nandi, Lynne Stockham, Catherine Wilde, Donna Durrant, Mark Lloyd, CheeSeng Ye, Rob Stevens, Amjad Jilani, David Collins, Suzannah Pegler, Ali Rivett, Liz Price, Neil McHugh, Sarah Skeoch, Diana O'Kane, Sue Kirkwood, Saravanan Vadivelu, Susan Pugmire, Shabina Sultan, Emma Dooks, Lisa Armstrong, Hala Sadik, Anupama Nandagudi, Tolu Abioye, Angelo Ramos, Steph Gumus, Nidhi Sofat, Abiola Harrison, Abi Seward, Susan Mollan, Ray Rahan, Helen Hawkins, Hedley Emsley, Anna Bhargava, Vicki Fleming, Marianne Hare, Sonia Raj, Emmanuel George, Nicola Allen, Karl Hunter, Eoin O'Sullivan, Georgina Bird, Malgorzata Magliano, Katarina Manzo, Bobbie Sanghera, David Hutchinson, Fiona Hammonds, Poonam Sharma, Richard Cooper, Graeme McLintock, Zaid S. Al‐Saffar, Mike Green, Kerry Elliott, Tania Neale, Janine Mallinson, Peter Lanyon, Marie‐ Josephe Pradere, Natasha Jordan, Ei Phyu Htut, Thelma Mushapaidzi, Donna Abercrombie, Sam Wright, Jane Rowlands, Chetan Mukhtyar, James Kennedy, Damodar Makkuni, Elva Wilhelmsen, Michael Kouroupis, Shweta Bhagat, Lily John, Rod Hughes, Margaret Walsh, Marie Buckley, Kirsten Mackay, Tracey Camden‐Woodley, Joan Redome, Kirsty Pearce, Thiraupathy Marianayagam, Carina Cruz, Elizabeth Warner, Ishmael Atchia, Claire Walker, Karen Black, Stacey Duffy, Marwan Bukhari, Lynda Fothergill, Rebecca Jefferey, Jackie Toomey, Ceril Rhys‐Dillon, Carla Pothecary, Lauren Green, Tracey Toms, Linda Maher, Diana Davis, Amrinder Sayan, Mini Thankachen, Mahdi Abusalameh, Jessica Record, Asad Khan, Sam Stafford, Azza Hussein, Clare Williams, Alison Fletcher, Laura Johson, Richard Burnett, Robert Moots, Helen Frankland, James Dale, Karen Black, Kirsten Moar, Carol Hollas, Ben Parker, Derek Ridings, Sandhya Eapen, Sindhu John, Jo Robson, Lucy Belle Guthrie, Rose Fyfe, Moira Tait, Jonathan Marks, Emma Gunter, Rochelle Hernandez, Smita Bhat, Paul Johnston, Muhammad Khurshid, Charlotte Barclay, Deepti Kapur, Helen Jeffrey, Anna Hughes, Lauren Slack, Eleri Thomas, Anna Royon, Angela Hall, Jon King, Sindi Nyathi, Vanessa Morris, Madhura Castelino, Ellie Hawkins, Linda Tomson, Animesh Singh, Annalyn Nunag, Stella O'Connor, Nathan Rushby, Nicola Hewitson, Kenny O'Sunmboye, Adam Lewszuk, Louise Boyles, Martin Perry, Emma Williams, Christine Graver, Emmanuel Defever, Sanjeet Kamanth, Dominic Kay, Joe Ogor, Louise Winter, Sarah Horton, Gillian Welch, Kath Hollinshead, James Peters, Julius Labao, Andrea Dmello, Julie Dawson, Denise Graham, Denise De Lord, Jo Deery, Tracy Hazelton, Miguel Ángel González‐Gay, Javier Martín, Ana Márquez, Martin Kerick   +295 more
wiley   +1 more source

Ancient Whole-Genome Duplication and Lineage-Specific Retention Shape the Diversification of bZIP Transcription Factors in Pooideae. [PDF]

Plants (Basel)
Xie X, Han J, Xu H, Wang Y, Chen M, Chang J, Li Y, Yang G, He G.   +8 more
europepmc   +1 more source