Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nicole M. Gilette"'
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
Autor:
Mary C. Whitman, Nicole M. Gilette, Jessica L. Bell, Seoyoung A. Kim, Max Tischfield, Elizabeth C. Engle
Publikováno v:
Developmental Biology. 490:126-133
Heterozygous loss of function mutations in TWIST1 cause Saethre-Chotzen syndrome, which is characterized by craniosynostosis, facial asymmetry, ptosis, strabismus, and distinctive ear appearance. Individuals with syndromic craniosynostosis have high
Autor:
Shiv Pillai, Pinky Langat, Amy K. Barczak, Jordan T. Said, Blake Oberfeld, Pamela Chen, Kendall Carpenter, Abigail E. Schiff, Allen S. Zhou, Aditya Achanta, Nicole M. Gilette
Publikováno v:
Cell
Coronavirus disease 2019 (COVID-19) is a novel respiratory illness caused by SARS-CoV-2. Viral entry is mediated through viral spike protein and host ACE2 enzyme interaction. Most cases are mild; severe disease often involves cytokine storm and organ
Autor:
Kirsten Ecklund, Gulsen Akay Tayfun, Sherin Shaaban, Azmi Hamzaoglu, Elias I. Traboulsi, Wai-Man Chan, Caroline D. Robson, Nicole M. Gilette, Silvio Alessandro Di Gioia, Nursel Elcioglu, Elizabeth C. Engle, Beyhan Tüysüz
Publikováno v:
American journal of human genetics. 103(1)
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous familie
Autor:
Bryn D. Webb, Speck-Martins Ce, Peter S. Chines, Pietro Artoni, Wai-Man Chan, Mary Beth Scholand, Nori Matsunami, Irini Manoli, John C. Carey, Jessica Cannavino, Michela Fagiolini, Mark Leppert, Carlos Ferreira, Connors S, Hartman T, de Macena Sobreira Nl, Eric N. Olson, Frank H. Collins, Di Gioia Sa, Matthew F. Rose, Elizabeth C. Engle, Payam Mohassel, Carsten G. Bönnemann, Andres Ramirez-Martinez, Long Cheng, Van Ryzin C, Ethylin Wang Jabs, Amy J. Swift, Nicole M. Gilette, Stephen P. Robertson, Caroline D. Robson, Timothy R. Morgan, Ian Hayes, Christopher Grunseich, David Markie
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
Nature Communications
Nature Communications
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick,
Autor:
Wai-Man Chan, Alicia A. Nugent, Alan P. Tenney, Nicole M. Gilette, Michelle M. DeLisle, Jong G. Park, Long Cheng, Elizabeth C. Engle, Yan Wei
Publikováno v:
The Journal of clinical investigation. 127(5)
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imagin