Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Jennifer A. Suggs"'
Autor:
Yiming Guo, William A. Kronert, Karen H. Hsu, Alice Huang, Floyd Sarsoza, Kaylyn M. Bell, Jennifer A. Suggs, Douglas M. Swank, Sanford I. Bernstein
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-18 (2020)
Abstract Background Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic myosin heavy chain gen
Externí odkaz:
https://doaj.org/article/4397c26e81354be48f32976393b896ee
Autor:
Jennifer A. Suggs, Girish C. Melkani, Bernadette M. Glasheen, Mia M. Detor, Anju Melkani, Nathan P. Marsan, Douglas M. Swank, Sanford I. Bernstein
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 6, Pp 761-771 (2017)
Individuals with inclusion body myopathy type 3 (IBM3) display congenital joint contractures with early-onset muscle weakness that becomes more severe in adulthood. The disease arises from an autosomal dominant point mutation causing an E706K substit
Externí odkaz:
https://doaj.org/article/0734f576d32c4449a6e56f15badb6a57
Autor:
Heng B Xie, Anthony Cammarato, Namakkal S Rajasekaran, Huali Zhang, Jennifer A Suggs, Ho-Chen Lin, Sanford I Bernstein, Ivor J Benjamin, Kent G Golic
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003544 (2013)
Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders a
Externí odkaz:
https://doaj.org/article/4789041d94c142bda94469f8185de730
Autor:
Douglas M. Swank, Floyd Sarsoza, Sanford I. Bernstein, Karen H. Hsu, William A. Kronert, Jennifer A. Suggs, Yiming Guo, Kaylyn M. Bell, Alice Huang
Publikováno v:
Skeletal Muscle
Skeletal Muscle, Vol 10, Iss 1, Pp 1-18 (2020)
Skeletal Muscle, Vol 10, Iss 1, Pp 1-18 (2020)
Background Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic myosin heavy chain gene, MYH3.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47240eb0b53b4ef431328a4d0046887f
https://doi.org/10.1186/s13395-020-00241-6
https://doi.org/10.1186/s13395-020-00241-6
Autor:
Diane E. Cryderman, Sahaana Chandran, Lori L. Wallrath, Steven A. Moore, Girish C. Melkani, Sanford I. Bernstein, Shruti Bhide, Bingyan J. Wang, Andrew Han, Jennifer A. Suggs
Publikováno v:
Human Molecular Genetics. 28:351-371
Laminopathies are diseases caused by dominant mutations in the human LMNA gene encoding A-type lamins. Lamins are intermediate filaments that line the inner nuclear membrane, provide structural support for the nucleus and regulate gene expression. Dr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f824396b49866a851382640bd925f6c
https://doi.org/10.1093/hmg/ddy332
https://doi.org/10.1093/hmg/ddy332
Autor:
Jennifer A. Suggs, D. Brian Foster, Girish C. Melkani, Anju Melkani, Sanford I. Bernstein, Kimberley Manalo
Publikováno v:
The FASEB Journal. 34:1-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47014337e9688497b95c79f6baa71958
https://doi.org/10.1096/fasebj.2020.34.s1.07423
https://doi.org/10.1096/fasebj.2020.34.s1.07423
Publikováno v:
SAE International Journal of Fuels and Lubricants. 7:631-641
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::373e219ceccc563a96792dc47e8f79a0
https://doi.org/10.4271/2014-01-9078
https://doi.org/10.4271/2014-01-9078
Autor:
Bernadette M. Glasheen, Girish C. Melkani, Madhulika Achal, Sanford I. Bernstein, Anthony Cammarato, Rolf Bodmer, Jennifer A. Suggs, Anju Melkani, Douglas M. Swank, Meera C. Viswanathan, Karen Ocorr, Gaurav Kaushik, Adriana S. Trujillo, Gerrie P. Farman, Christopher S. Newhard, Jeffrey R. Moore
An "invariant proline" separates the myosin S1 head from its S2 tail and is proposed to be critical for orienting S1 during its interaction with actin, a process that leads to muscle contraction. Mutation of the invariant proline to leucine (P838L) c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afafd919fa9669117b14bf4e7d6a44bb
https://europepmc.org/articles/PMC4884507/
https://europepmc.org/articles/PMC4884507/
Autor:
Girish C. Melkani, Yang Wang, Anju Melkani, Sanford I. Bernstein, William A. Kronert, Anthony Cammarato, Jennifer A. Suggs
Publikováno v:
Molecular Biology of the Cell
A Drosophila model of myosin-based inclusion body myopathy type 3 is presented. Muscle function, ATPase activity, and actin sliding velocity were dramatically reduced. The mutant myosin is prone to aggregate, likely accounting for the observed cytopl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3364bae83f7ce63639af141285f3ee92
http://europepmc.org/articles/PMC3364171
http://europepmc.org/articles/PMC3364171
Autor:
Sanford I. Bernstein, Jennifer A. Suggs, Anju Melkani, Girish C. Melkani, Eric P. Ratliff, D. Brian Foster
Publikováno v:
Biophysical Journal. 108(2)
Inclusion body myopathy type 3 (IBM-3) is a progressive dominant disease affecting fast skeletal muscle. It results from a point mutation in the SH1 helix of the myosin motor. Previously, we showed that homozygous expression of the analogous mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd30372596f1b9c135da2879dace8b82