Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Paul W. Chrystal"'
Autor:
Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Motile and non-motile cilia have distinct functions and protein complexes associated with them. Here, the authors show the conserved protein CFAP20 is important for both motile and non-motile cilia and is distinct from other ciliopathy-associated dom
Externí odkaz:
https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61
Autor:
Elizabeth D. Hodges, Paul W. Chrystal, Tim Footz, Lance P. Doucette, Nicole C. L. Noel, Zixuan Li, Michael A. Walter, W. Ted Allison
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14423 (2023)
Pigmentary glaucoma has recently been associated with missense mutations in PMEL that are dominantly inherited and enriched in the protein’s fascinating repeat domain. PMEL pathobiology is intriguing because PMEL forms functional amyloid in healthy
Externí odkaz:
https://doaj.org/article/f76a6e4407ea41cdb47a01166ae8523c
Autor:
Paul W. Chrystal, Tim Footz, Elizabeth D. Hodges, Justin A. Jensen, Michael A. Walter, W. Ted Allison
Publikováno v:
Molecules, Vol 26, Iss 12, p 3529 (2021)
The ancient paralogs premelanosome protein (PMEL) and glycoprotein nonmetastatic melanoma protein B (GPNMB) have independently emerged as intriguing disease loci in recent years. Both proteins possess common functional domains and variants that cause
Externí odkaz:
https://doaj.org/article/78f6c012b4b847c3b75ff2f05d4706ca
Autor:
Paul W. Chrystal, Curtis R. French, Francesca Jean, Serhiy Havrylov, Suey van Baarle, Ann-Marie Peturson, Pengfei Xu, J. Gage Crump, David B. Pilgrim, Ordan J. Lehmann, Andrew J. Waskiewicz
Publikováno v:
Genes, Vol 12, Iss 2, p 170 (2021)
Precise spatiotemporal expression of the Nodal-Lefty-Pitx2 cascade in the lateral plate mesoderm establishes the left–right axis, which provides vital cues for correct organ formation and function. Mutations of one cascade constituent PITX2 and, se
Externí odkaz:
https://doaj.org/article/936d6ca0b0b747de8909fd63da7e87fc
Autor:
Michael A. Walter, W. Ted Allison, Justin A. Jensen, Paul W. Chrystal, Elizabeth Hodges, Tim Footz
Publikováno v:
Molecules, Vol 26, Iss 3529, p 3529 (2021)
Molecules
Volume 26
Issue 12
Molecules
Volume 26
Issue 12
The ancient paralogs premelanosome protein (PMEL) and glycoprotein nonmetastatic melanoma protein B (GPNMB) have independently emerged as intriguing disease loci in recent years. Both proteins possess common functional domains and variants that cause
Autor:
Ian M. MacDonald, Curtis R. French, Fred B. Berry, Jagannadha Avasarala, Andrew J. Waskiewicz, Serhiy Havrylov, R Curtis Rogers, Suey van Baarle, Ordan J. Lehmann, Paul W. Chrystal, Tsutomu Kume
Alterations to cilia are responsible for a wide range of severe disease; however, understanding of the transcriptional control of ciliogenesis remains incomplete. We evaluated whether ciliary dysfunction contributed to the pleiotropic phenotypes caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f4801a2a11d3762abfa8ed5c9a3cc3c
https://doi.org/10.1101/2020.08.13.249334
https://doi.org/10.1101/2020.08.13.249334
Autor:
Suey van Baarle, Ordan J. Lehmann, Paul W. Chrystal, Serhiy Havrylov, Curtis R. French, David B. Pilgrim, Andrew J. Waskiewicz, Ann-Marie Peturson, J. Gage Crump, Pengfei Xu, Francesca Jean
Normal body situs requires precise spatiotemporal expression of theNodal-Lefty-Pitx2cascade in the lateral plate mesoderm. The ultimate output of this patterning is establishment of the left-right axis, which provides vital cues for correct organ for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07a9c8684ed92c80921d6554c38c4284
https://doi.org/10.1101/2020.05.28.120915
https://doi.org/10.1101/2020.05.28.120915
Autor:
Michael A. Walter, Paul W. Chrystal
Publikováno v:
Experimental eye research. 189
Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. Both result from incorrect development of the eye and have, as their most serious consequences, elevated risk to d
Autor:
Ordan J. Lehmann, Paul W. Chrystal, Nathan D. Lawson, Matthew L. Workentine, Lihua Julie Zhu, Nicole M. Munsie, Andrew J. Waskiewicz, Ann S. Grosse, Thomas Whitesell, Jae-Ryeon Ryu, Sarah J. Childs, Curtis R. French, Rui Li
Publikováno v:
Developmental biology. 453(1)
Vascular smooth muscle of the head derives from neural crest, but developmental mechanisms and early transcriptional drivers of the vSMC lineage are not well characterized. We find that in early development, the transcription factor foxc1b is express
Autor:
Deborah J. Henderson, S. J. Washer, Paul W. Chrystal, Tania Papoutsi, T. Dhanaseelan, Adrian Santos-Ledo, Bill Chaudhry
Alternative splicing is a ubiquitous mechanism for producing different mRNA species from a single gene, resulting in proteomic diversity. Despite potential for regulating embryogenesis, its developmental role remains under-investigated. The Jun kinas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa88c72136531def55f32633c884765
https://doi.org/10.1101/546184
https://doi.org/10.1101/546184