Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Jennifer M Skidmore"'
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:
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:
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
Autor:
Elizabeth A. Hurd, K. Elaine Ritter, Jingxia Gao, Lisa A. Beyer, Donna M. Martin, Jelka Cimerman, Yehoash Raphael, Jennifer M. Skidmore, Vinodh Balendran
Publikováno v:
Dev Biol
Epigenetic regulation of gene transcription by chromatin remodeling proteins has recently emerged as an important contributing factor in inner ear development. Pathogenic variants in CHD7, the gene encoding Chromodomain Helicase DNA binding protein 7
Autor:
Laura A. Krueger, Jessica D. Bills, Zun Yi Lim, Jennifer M. Skidmore, Donna M. Martin, Ann C. Morris
Publikováno v:
Experimental Eye Research. 226:109299
Mutations in the chromatin remodeling factor CHD7 are the predominant cause of CHARGE syndrome, a congenital disorder that frequently includes ocular coloboma. Although CHD7 is known to be required for proper ocular morphogenesis, its role in retinal
Autor:
Jennifer M. Skidmore, Hui Yao, Ricardo D’Oliveira Albanus, Gilson J. Sanchez, Alina Saiakhova, Stephanie L. Bielas, Stephen C. J. Parker, Mats Ljungman, Peter C. Scacheri, Donna M. Martin, Douglas F Hannum, Wenjia Lou, Yiwen Zhai, Sophie F. Hill
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
CHARGE syndrome, a rare multiple congenital anomaly condition, is caused by haploinsufficiency of the chromatin remodeling protein gene CHD7 (Chromodomain helicase DNA binding protein 7). Brain abnormalities and intellectual disability are commonly o
Autor:
Jessica X. Chong, Deborah A. Nickerson, Donna M. Martin, Margaret A. Hefner, Stephanie L. Bielas, Jennifer M. Skidmore, Anshika Srivastava, John A. Bernat, Amanda Moccia, Michael J. Bamshad, Marsha M. Wheeler
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose CHARGE syndrome is an autosomal dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding
Autor:
Melanie Barzik, Elizabeth A. Wilson, Spencer M. Goodman, Jonathan E. Bird, Atteeq U. Rehman, Diana Syam, Meghan C. Drummond, Eva L. Morozko, Inna A. Belyantseva, Stacey M. Cole, Tracy S. Fitzgerald, Jennifer M. Skidmore, Alexandra K. Boukhvalova, Erich T. Boger, Donna M. Martin, Thomas B. Friedman, Daniel C. Sutton
Publikováno v:
Molecular Biology of the Cell
Nanoscale pulldown (NanoSPD) miniaturizes the concept of affinity pulldown to detect protein–protein interactions in live cells. NanoSPD hijacks the myosin-based intracellular trafficking machinery to assess interactions under physiological buffer
Autor:
Hui Yao, Donald L. Swiderski, Yehoash Raphael, Gilson J. Sanchez, Shigeki Iwase, Sophie F. Hill, Ethan D. Sperry, Cynthia F. Bartels, Peter C. Scacheri, Donna M. Martin, Jennifer M. Skidmore
Publikováno v:
JCI Insight, Vol 3, Iss 4 (2018)
CHD7, an ATP-dependent chromatin remodeler, is disrupted in CHARGE syndrome, an autosomal dominant disorder characterized by variably penetrant abnormalities in craniofacial, cardiac, and nervous system tissues. The inner ear is uniquely sensitive to
Autor:
James F. Martin, Jennifer M. Skidmore, Motoaki Seki, Lies De Groef, Yohan Chaix, Karine Kindbeiter, Muriel Bozon, Bénédicte Durand, Donna M. Martin, Isabelle Sanyas, Sarah Dinvaut, Julien Falk, Laurette Morlé, Christiana Ruhrberg, Valérie Castellani, Lieve Moons, Camille Charoy
Publikováno v:
eLife, Vol 6 (2017)
eLife
eLife
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