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

Meckel’s Cartilage in Mandibular Development and Dysmorphogenesis

Autor: M. Kathleen Pitirri, Emily L. Durham, Natalie A. Romano, Jacob I. Santos, Abigail P. Coupe, Hao Zheng, Danny Z. Chen, Kazuhiko Kawasaki, Ethylin Wang Jabs, Joan T. Richtsmeier, Meng Wu, Susan M. Motch Perrine

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

The Fgfr2cC342Y/+ Crouzon syndrome mouse model carries a cysteine to tyrosine substitution at amino acid position 342 (Cys342Tyr; C342Y) in the fibroblast growth factor receptor 2 (Fgfr2) gene equivalent to a FGFR2 mutation commonly associated with C

Externí odkaz: https://doaj.org/article/0837681572d84edcb66a1764254c7951

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Autor: Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)

During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the d

Externí odkaz: https://doaj.org/article/64436425aef44e6d84ebe13cff020fd4

Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997–2011

Autor: Sarah C, Fisher, Meredith M, Howley, Paul A, Romitti, Tania A, Desrosiers, Ethylin Wang, Jabs, Marilyn L, Browne

Publikováno v: Paediatric and Perinatal Epidemiology. 36:782-791

Gastroschisis is particularly prevalent among offspring of young women and has increased over recent decades. Although previous studies suggest that maternal alcohol consumption is associated with increased gastroschisis risk, none have explored whet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dcb435bb2b5993c0e90baf200e66648
https://doi.org/10.1111/ppe.12882

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

Autor: Greg Holmes, Lening Zhang, Joshua Rivera, Ryan Murphy, Claudia Assouline, Lorraine Sullivan, Todd Oppeneer, Ethylin Wang Jabs

Publikováno v: PLoS ONE, Vol 13, Iss 7, p e0201492 (2018)

Activating mutations of fibroblast growth factor receptors (FGFRs) are a major cause of skeletal dysplasias, and thus they are potential targets for pharmaceutical intervention. BMN 111, a C-type natriuretic peptide analog, inhibits FGFR signaling at

Externí odkaz: https://doaj.org/article/438c3965d01944bd848176060ccd539c