Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Nele A. Haelterman"'
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/42f35c10536b49d9b86232d7a5217420
Autor:
Matthew William Grol, Nele A Haelterman, Joohyun Lim, Elda M Munivez, Marilyn Archer, David M Hudson, Sara F Tufa, Douglas R Keene, Kevin Lei, Dongsu Park, Cole D Kuzawa, Catherine G Ambrose, David R Eyre, Brendan H Lee
Publikováno v:
eLife, Vol 10 (2021)
Osteogenesis imperfecta (OI) is characterized by short stature, skeletal deformities, low bone mass, and motor deficits. A subset of OI patients also present with joint hypermobility; however, the role of tendon dysfunction in OI pathogenesis is larg
Externí odkaz:
https://doaj.org/article/261397809146433d8b407ede35b7702f
Autor:
Jacqueline N Robinson-Hamm, Vijay Kale, Lori Raetzman, Kirsten Block, Calvin Cole, Douglas Fester, Nele A.T Haelterman, Elizabeth Kovacs, Mary Litzinger, Marsha Lucas, Lauren E O'Connor, Vipul Sharma, Lindsey S. Treviño, Kate Elizabeth Tubbesing, Ana Vergara
In 2022, the Federation of American Societies for Experimental Biology (FASEB) convened the Early Career Representative Engagement Task Force, charged with identifying• needs of early-career scientists that can be addressed by scientific societies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cb609cd65253061ece443819796a098
https://doi.org/10.31219/osf.io/vgrpq
https://doi.org/10.31219/osf.io/vgrpq
Autor:
Manish Jaiswal, Nele A Haelterman, Hector Sandoval, Bo Xiong, Taraka Donti, Auinash Kalsotra, Shinya Yamamoto, Thomas A Cooper, Brett H Graham, Hugo J Bellen
Publikováno v:
PLoS Biology, Vol 16, Iss 3, p e1002622 (2018)
[This corrects the article DOI: 10.1371/journal.pbio.1002197.].
Externí odkaz:
https://doaj.org/article/e772bdd085444f588b496b59bce0221c
Autor:
Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Publikováno v:
Cell Reports, 38(11):110517. Cell Press
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequence
Autor:
Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto, Matthew N Rasband, Hugo J Bellen
Publikováno v:
eLife, Vol 5 (2016)
Mutations in Frataxin (FXN) cause Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder. Previous studies have proposed that loss of FXN causes mitochondrial dysfunction, which triggers elevated reactive oxygen species (ROS) and leads
Externí odkaz:
https://doaj.org/article/d43500dee4974bd596fee8b639e61034
Autor:
Manish Jaiswal, Nele A Haelterman, Hector Sandoval, Bo Xiong, Taraka Donti, Auinash Kalsotra, Shinya Yamamoto, Thomas A Cooper, Brett H Graham, Hugo J Bellen
Publikováno v:
PLoS Biology, Vol 13, Iss 7, p e1002197 (2015)
Two insults often underlie a variety of eye diseases including glaucoma, optic atrophy, and retinal degeneration--defects in mitochondrial function and aberrant Rhodopsin trafficking. Although mitochondrial defects are often associated with oxidative
Externí odkaz:
https://doaj.org/article/7b410a2080c44e21a5de764286457421
Autor:
Elda Munivez, Marilyn Archer, Sara F. Tufa, David M. Hudson, Douglas R. Keene, Dongsu Park, David R. Eyre, Catherine G. Ambrose, Brendan Lee, Kevin Lei, Joohyun Lim, Matthew W. Grol, Cole D Kuzawa, Nele A Haelterman
Publikováno v:
eLife, Vol 10 (2021)
Osteogenesis imperfecta (OI) is characterized by short stature, skeletal deformities, low bone mass, and motor deficits. A subset of OI patients also present with joint hypermobility; however, the role of tendon dysfunction in OI pathogenesis is larg
Autor:
Elda Munivez, Dongsu Park, Brendan Lee, Cole D Kuzawa, Douglas R. Keene, Marilyn Archer, Joohyun Lim, Nele A Haelterman, Kevin Lei, Catherine G. Ambrose, Matthew W. Grol, David R. Eyre, Sara F. Tufa, David M. Hudson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84ba478afaf8b24cf6cd1a9f04d3a943
https://doi.org/10.7554/elife.63488.sa2
https://doi.org/10.7554/elife.63488.sa2
Autor:
Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
SummaryIndividuals with autism spectrum disorders (ASD) exhibit an increased burden ofde novovariants in a broadening range of genes. We functionally tested the effects of ASD missense variants usingDrosophilathrough ‘humanization’ rescue and ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8
https://doi.org/10.1101/2020.12.30.424813
https://doi.org/10.1101/2020.12.30.424813