Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Autor: Kristen J. Verhey, Simranpreet Kaur, Matthew D. Burton, Wendy K. Chung, Zeynep Tümer, Breane G. Budaitis, Nicole J Van Bergen, Bitten Schönewolf-Greulich, Rhea Sonawane, Cameron J. Nowell, Annalaura Torella, Yang Yue, Nicola Brunetti-Pierri, Gerarda Cappuccio, Lia Boyle, John Christodoulou, Tony Roscioli, Mark J. Cowley, Carolyn Ellaway, Wendy A. Gold, Irene Bruno, Sean Massey, Vincenzo Nigro

Publikováno v: Kaur, S, Van Bergen, N J, Verhey, K J, Nowell, C J, Budaitis, B, Yue, Y, Ellaway, C, Brunetti-Pierri, N, Cappuccio, G, Bruno, I, Boyle, L, Nigro, V, Torella, A, Roscioli, T, Cowley, M J, Massey, S, Sonawane, R, Burton, M D, Schonewolf-Greulich, B, Tümer, Z, Chung, W K, Gold, W A & Christodoulou, J 2020, ' Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A ) ', Human Mutation, vol. 41, no. 10, pp. 1761-1774 . https://doi.org/10.1002/humu.24079
Hum Mutat

Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce4359bfac087829bfbf573c90a4e13
https://doi.org/10.1002/humu.24079

Calvino e o comércio

Autor: David W. Hall, Matthew D. Burton

'A primeira vez que você lê este livro, ficará impressionado com sua amplitude e alcance. Então, na sua segunda e terceira leitura você ficará surpreso com a consciência e a aplicação do pensamento de Calvin sobre literalmente centenas de de

Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells

Autor: Patrick S. Western, Jocelyn van den Bergen, Matthew D. Burton, Denise C. Miles, Andrew H. Sinclair

Publikováno v: Stem Cells. 26:339-347

During fetal mouse development, germ cells enter the developing gonad at embryonic day (E) 10–11. In response to signaling from the male or female gonad, the germ cells commit either to spermatogenesis at E12.5 and enter mitotic arrest or to oogene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49450308bd65f96506deedb10e5bce6
https://doi.org/10.1634/stemcells.2007-0622

T-cell receptor contact and MHC binding residues of a major rye grass pollen allergen T-cell epitope

Autor: Matthew D. Burton, Robyn E O'Hehir, Cenk Suphioglu, Bella Blaher, Jennifer M. Rolland, Francis R. Carbone

Publikováno v: Journal of Allergy and Clinical Immunology. 103:255-261

Background: T cells are pivotal in the elicitation of allergic diseases. Analogues of T-cell epitope peptides with a modification at a T-cell receptor (TCR) contact site can alter selected T-cell effector functions. Thus the ability to modulate aller

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e0d23304114e72a43b872826fd2496
https://doi.org/10.1016/s0091-6749(99)70499-9

Relaxin plays an important role in the regulation of airway structure and function

Autor: Chongxin Zhao, Geoffrey W. Tregear, Simon G. Royce, Matthew D. Burton, Mimi L.K. Tang, Chrishan S. Samuel

Publikováno v: Endocrinology. 148(9)

Relaxin is a reproductive hormone with pleiotropic actions. In addition to airway fibrosis, relaxin deficiency results in airway structural changes (epithelial thickening) and increased lung recoil, suggesting that relaxin may impact other aspects of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5ac0108c4c71d4b91b362ab7b16109
https://pubmed.ncbi.nlm.nih.gov/17584966