Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Donna M Martin"'
Autor:
Camille Charoy, Sarah Dinvaut, Yohan Chaix, Laurette Morlé, Isabelle Sanyas, Muriel Bozon, Karine Kindbeiter, Bénédicte Durand, Jennifer M Skidmore, Lies De Groef, Motoaki Seki, Lieve Moons, Christiana Ruhrberg, James F Martin, Donna M Martin, Julien Falk, Valerie Castellani
Publikováno v:
eLife, Vol 6 (2017)
The diaphragm muscle is essential for breathing in mammals. Its asymmetric elevation during contraction correlates with morphological features suggestive of inherent left–right (L/R) asymmetry. Whether this asymmetry is due to L versus R difference
Externí odkaz:
https://doaj.org/article/c54bf742fcde4492af26ee2d1304e795
Autor:
Donna M Martin
Publikováno v:
PLoS Genetics, Vol 6, Iss 7, p e1001010 (2010)
Externí odkaz:
https://doaj.org/article/55b23b3affef4203a02e50facaad7dfe
Autor:
Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100198- (2023)
Summary: GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other processes. The NuRD complex modulates chr
Externí odkaz:
https://doaj.org/article/55ebaaa929534eec94b83543adbc336f
Autor:
Jingying Guo, Xiaobo Ma, Jennifer M. Skidmore, Jelka Cimerman, Diane M. Prieskorn, Lisa A. Beyer, Donald L. Swiderski, David F. Dolan, Donna M. Martin, Yehoash Raphael
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 319-333 (2021)
Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures
Externí odkaz:
https://doaj.org/article/fa3d714e52b744348ecd08e357da7134
Autor:
Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A. Bernier, Rachel K. Earl, Evangeline C. Kurtz-Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Alberto Fernandez-Jaen, Sara Alvarez, Staci D. King, Luiza L.P. Ramos, Mara Lucia S.F. Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 19 (2022)
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. An excess of likely gene-disruptive (LGD) mutations in GIGYF1 was implicated in ASD. Here, we report that GIGYF1 is the second-most mu
Externí odkaz:
https://doaj.org/article/7a5c86206a264d7985452b8766ff09b2
Autor:
María Beatriz Durán Alonso, Victor Vendrell, Iris López-Hernández, María Teresa Alonso, Donna M. Martin, Fernando Giráldez, Laura Carramolino, Giovanna Giovinazzo, Enrique Vázquez, Miguel Torres, Thomas Schimmang
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Meis genes have been shown to control essential processes during development of the central and peripheral nervous system. Here we have explored the roles of the Meis2 gene during vertebrate inner ear induction and the formation of the cochlea. Meis2
Externí odkaz:
https://doaj.org/article/687e276f719c42309699a73de9f2a1ac
Autor:
Francisco Velasquez, Jillian Lee Wiggins, Whitney I. Mattson, Donna M. Martin, Catherine Lord, Christopher S. Monk
Publikováno v:
Developmental Cognitive Neuroscience, Vol 45, Iss , Pp 100844- (2020)
Externí odkaz:
https://doaj.org/article/c25bb049ff1945db8b61ae68a7cd2657
Autor:
Sara M. Berger, Paul S. Appelbaum, Karolynn Siegel, Julia Wynn, Akilan M. Saami, Elly Brokamp, Bridget C. O’Connor, Rizwan Hamid, Donna M. Martin, Wendy K. Chung
Publikováno v:
Genetics in Medicine. 24:1878-1887
The knowledge used to classify genetic variants is continually evolving, and the classification can change on the basis of newly available data. Although up-to-date variant classification is essential for clinical management, reproductive planning, a
Publikováno v:
Genes, Vol 6, Iss 4, Pp 1183-1200 (2015)
Recently, unique areas of transcriptional regulation termed super-enhancers have been identified and implicated in human disease. Defined by their magnitude of size, transcription factor density, and binding of transcriptional machinery, super-enhanc
Externí odkaz:
https://doaj.org/article/c5bedecf9c53411aad8d3dbf25f4716f
Autor:
Donald L. Swiderski, Lisa A. Beyer, Diane M. Prieskorn, Xiaobo Ma, Jelka Cimerman, Donna M. Martin, Jingying Guo, Jennifer M. Skidmore, Yehoash Raphael, David F. Dolan
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 319-333 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 319-333 (2021)
Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures