Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

Autor: Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study o

Externí odkaz: https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99

Selective reprogramming of regulatory T cells in solid tumors can strongly enhance or inhibit tumor growth

Autor: Rami Alfar, John V. Napoleon, Imrul Shahriar, Richard Finnell, Cole Walchle, Austin Johnson, Philip S. Low

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

Folate receptor delta (FRδ) has been used as a biomarker for regulatory T cells (Tregs), because its expression is limited to Tregs and ovum. Although FRδ is unable to bind folate, we have used molecular docking software to identify a folate congen

Externí odkaz: https://doaj.org/article/91df2ad8c7494fd8a1ab5e850d97e190

CIC missense variants contribute to susceptibility for spina bifida

Autor: Xiao Han, Xuanye Cao, Vanessa Aguiar-Pulido, Wei Yang, Menuka Karki, Paula Andrea Pimienta Ramirez, Robert Cabrera, Ying Lin, Bogdan Wlodarczyk, Gary Shaw, Margaret Ross, Cuilian Zhang, Richard Finnell, Yunping Lei

Neural Tube Defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::50c9e1a3630f25bddb28748bb82aba55
https://doi.org/10.22541/au.163826470.06627349/v1

Folate-Related Birth Defects

Autor: Deeann Wallis, Johnathan Ballard, Gary Shaw, Edward Lammer, Richard Finnell

Publikováno v: Folate in Health and Disease, Second Edition ISBN: 9781420071245

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40998be1af5ac67e20b92180fa2e8f8f
https://doi.org/10.1201/9781420071252-c7

Management issues for women with epilepsy--focus on pregnancy (an evidence-based review): III. Vitamin K, folic acid, blood levels, and breast-feeding: Report of the Quality Standards Subcommittee and Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology and the American Epilepsy Society

Autor: Cynthia L, Harden, Page B, Pennell, Barbara S, Koppel, Collin A, Hovinga, Barry, Gidal, Kimford J, Meador, Jennifer, Hopp, Tricia Y, Ting, W A, Hauser, David, Thurman, Peter W, Kaplan, Julian N, Robinson, Jacqueline A, French, Samuel, Wiebe, Andrew N, Wilner, Blanca, Vazquez, Lewis, Holmes, Allan, Krumholz, Richard, Finnell, Patricia O, Shafer, Claire L, Le Guen

Publikováno v: Epilepsia. 50(5)

A committee assembled by the American Academy of Neurology (AAN) reassessed the evidence related to the care of women with epilepsy (WWE) during pregnancy, including preconceptional folic acid and prenatal vitamin K use and the clinical implications

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dfa7c2613005825ad6fd26b3779633e8
https://pubmed.ncbi.nlm.nih.gov/19507305