Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Connor Monahan"'
Autor:
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J Gould, Sneha Yennawar, Alexis T Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M Rolls, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://doaj.org/article/ea88765e5dca40999d37fc1d27f96ec3
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Wolf–Hirschhorn syndrome (WHS) is a rare developmental disorder characterized by intellectual disability and various physical malformations including craniofacial, skeletal, and cardiac defects. These phenotypes, as they involve structures that are
Externí odkaz:
https://doaj.org/article/e6f79eb2b5a74469b1eea88f1ceb63a6
Autor:
Francesca Garretti, Connor Monahan, Nicholas Sloan, Sanjid Shariar, Seon Woo Kim, Alessandro Sette, Tyler Cutforth, Ellen Kanter, Dritan Agalliu, David Sulzer
SUMMARYParkinson’s disease (PD) patients possess circulating T cells that recognize specific α-synuclein-(α-syn)-derived epitopes. One epitope, α-syn32-46, interacts strongly with the HLA-DRB1*15:01 allele implicated in multiple autoimmune disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c52a531cfc6f2ba1d124bd2b394c3cf
https://doi.org/10.1101/2022.02.03.479014
https://doi.org/10.1101/2022.02.03.479014
Publikováno v:
Handb Clin Neurol
Handbook of Clinical Neurology ISBN: 9780128194102
Handbook of Clinical Neurology ISBN: 9780128194102
The notion that autoimmune responses to α-synuclein may be involved in the pathogenesis of this disorder stems from reports that mutations in α-synuclein or certain alleles of the major histocompatibility complex (MHC) are associated with the disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694bd1fa7cc64464a787e2292aaf2785
https://europepmc.org/articles/PMC10193709/
https://europepmc.org/articles/PMC10193709/
Functional assessment of the 'two-hit' model for neurodevelopmental defects inDrosophilaandX. laevis
Autor:
Connor Monahan, Arjun Krishnan, Emily Huber, Alexis T. Weiner, Laura Anne Lowery, Matthew Jensen, Melissa M. Rolls, Lucilla Pizzo, Sneha Yennawar, Inshya Desai, Vijay Kumar Pounraja, Tanzeen Yusuff, Phoebe Ingraham, Siddharth Karthikeyan, Janani Iyer, Santhosh Girirajan, Micaela Lasser, Mayanglambam Dhruba Singh, Dagny J. Gould
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4aba6a49514567cae406c1fbb7a55d13
https://doi.org/10.1101/2020.09.14.295923
https://doi.org/10.1101/2020.09.14.295923
Autor:
Sneha Yennawar, Emily Huber, Janani Iyer, Tanzeen Yusuff, Alexis T. Weiner, Siddharth Karthikeyan, Phoebe Ingraham, Vijay Kumar Pounraja, Micaela Lasser, Connor Monahan, Mayanglambam Dhruba Singh, Dagny J. Gould, Inshya Desai, Laura Anne Lowery, Lucilla Pizzo, Arjun Krishnan, Santhosh Girirajan, Matthew Jensen, Melissa M. Rolls
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
PLoS Genetics
PLoS Genetics
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fbc4af276ae4c8d620532a91abb42da
https://doi.org/10.1371/journal.pgen.1009112
https://doi.org/10.1371/journal.pgen.1009112
Autor:
Connor Monahan, Oliver Yan, Laura Anne Lowery, Garrett M. Cammarata, Sangmook Lee, Paula G. Slater, Jackson T. Bowers
Publikováno v:
Developmental dynamics : an official publication of the American Association of Anatomists. 248(4)
BACKGROUND The mammalian guanine deaminase (GDA), called cypin, is important for proper neural development, by regulating dendritic arborization through modulation of microtubule (MT) dynamics. Additionally, cypin can promote MT assembly in vitro. Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7dcb533965f300bef432b0cef10cadd
https://pubmed.ncbi.nlm.nih.gov/30682232
https://pubmed.ncbi.nlm.nih.gov/30682232