Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Julia Whittle"'
Autor:
Julia Whittle, Lilian Antunes, Mya Harris, Zachary Upshaw, Diane S Sepich, Aaron N Johnson, Mayssa Mokalled, Lilianna Solnica‐Krezel, Matthew B Dobbs, Christina A Gurnett
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-14 (2020)
Abstract Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation
Externí odkaz:
https://doaj.org/article/a7331544e09d4f7299c4599872a04aba
Autor:
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense varia
Externí odkaz:
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
Publikováno v:
Genes
Genes, Vol 12, Iss 943, p 943 (2021)
Genes, Vol 12, Iss 943, p 943 (2021)
Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. While skeletal muscle sarcomeric genes comprise many of the first genes identified for Distal Art
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53424b130ff9401104aef1183944ba28
http://europepmc.org/articles/PMC8234565
http://europepmc.org/articles/PMC8234565
Autor:
Mayssa H. Mokalled, Mya Harris, Zachary Upshaw, Matthew B. Dobbs, Lilian Antunes, Diane S. Sepich, Aaron N. Johnson, Julia Whittle, Lilianna Solnica-Krezel, Christina A. Gurnett
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
EMBO Molecular Medicine
EMBO Molecular Medicine
Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a9aa219a9e2044908dda722c38fb0b
https://doi.org/10.15252/emmm.202012356
https://doi.org/10.15252/emmm.202012356
Autor:
Lilian Antunes, Jimann Shin, Brooke Sadler, Gabe Haller, Supak Jenkitkasemwong, Mitchell D. Knutson, Zachary Upshaw, Kevin McCall, Erin E. Baschal, Matthew B. Dobbs, Christina A. Gurnett, Cathleen L. Raggio, Ryan S. Gray, Matthew B. Harms, Nancy H. Miller, Philip F. Giampietro, Jose A. Morcuende, Carol Wise, Momchil Nikolov, Lila Solnica-Krezel, Carlos Cruchaga, Julia Whittle
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
Nature Communications
Nature Communications
Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely unknown. To identify genetic variation associated with severe AIS, we performed an exome-wide association study of 457 severe AIS cases and 987 controls. We find a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f40fbe4afa639439613ee1eb31a383f
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4