Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

Autor: Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L. Cunningham, Paul A. Romitti, Simeon A. Boyadjiev

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

Abstract Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS p

Externí odkaz: https://doaj.org/article/f648374bc2b0416ab9f8c6846eee6350

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

Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis

Autor: Cristina M. Justice, Kevin Bishop, Blake Carrington, Jim C. Mullikin, Kandice Swindle, Beth Marosy, Raman Sood, Nancy H. Miller, Alexander F. Wilson

Publikováno v: G3: Genes, Genomes, Genetics, Vol 6, Iss 6, Pp 1707-1712 (2016)

Because of genetic heterogeneity present in idiopathic scoliosis, we previously defined clinical subsets (a priori) from a sample of families with idiopathic scoliosis to find genes involved with spinal curvature. Previous genome-wide linkage analysi

Externí odkaz: https://doaj.org/article/f3f7ef86b11a46798e4452e6df4739fa

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Autor: Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti

Publikováno v: Genes. 13:1649

Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc2f3ef9e2cbd81deef397c35bea78d4
https://doi.org/10.3390/genes13091649

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Autor: Julie M. Phipps, Jenny Morton, Elizabeth Sweeney, Araceli Cuellar, Jeremy A. Sabourin, Assen Bussarsky, Val C. Sheffield, James L. Mills, Michael L. Cunningham, David W. Johnson, Karen Crawford, Krithi Bala, Mary M. Jenkins, Marta Barba, Louise C. Wilson, Cristina M. Justice, Nadezhda Yaneva, Lawrence C. Brody, Simeon A. Boyadjiev, Paul A. Romitti, Katie E. M. Rees, Andrew O.M. Wilkie, Wanda Lattanzi, Peter H. Langlois, Peter Noons, Yan Zhou, Rachel K. Tittle, Steven A. Wall, Tony Roscioli, Marike Zwienenberg, Denise M. Kay, Deirdre Cilliers, Kiril Georgiev, Jo C. Byren, Robert J. Sicko, Craig W. Senders, Lorenzo D. Botto, Alexander F. Wilson, Radka Kaneva, E Simeonov, Astrid Weber, Gianpiero Tamburrini, Kristin M Conway, James E. Boggan, Janine M. LaSalle

Publikováno v: Hum Genet
Human Genetics, vol 139, iss 8

Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90794fb2cb97ea4c83778608ffa7d8e0
https://pubmed.ncbi.nlm.nih.gov/32266521