Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Carol A Wise"'
Autor:
Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise
Publikováno v:
eLife, Vol 12 (2024)
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the
Externí odkaz:
https://doaj.org/article/008395c97b104a1f9a8bdc58a295796f
Autor:
Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin E Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor Dozmorov, Ferdicia Carr-Johnson, Mitja Mitrovic, Graham B Wiley, Jennifer A Kelly, Bernard R Lauwerys, Nancy J Olsen, Chris Cotsapas, Christine K Garcia, Carol A Wise, John B Harley, Swapan K Nath, Judith A James, Chaim O Jacob, Betty P Tsao, Chandrashekhar Pasare, David R Karp, Quan Zhen Li, Patrick M Gaffney, Edward K Wakeland
Publikováno v:
eLife, Vol 5 (2016)
Targeted sequencing of sixteen SLE risk loci among 1349 Caucasian cases and controls produced a comprehensive dataset of the variations causing susceptibility to systemic lupus erythematosus (SLE). Two independent disease association signals in the H
Externí odkaz:
https://doaj.org/article/9cb126754a5c4c41a78ee8db59f27c5a
Autor:
Faegheh Ghanbari, Nao Otomo, Isabel Gamache, Takuro Iwami, Yoshinao Koike, Anas M. Khanshour, Shiro Ikegawa, Carol A. Wise, Chikashi Terao, Despoina Manousaki
Publikováno v:
JBMR Plus, Vol 7, Iss 12, Pp n/a-n/a (2023)
ABSTRACT Adolescent idiopathic scoliosis (AIS) is the most common form of pediatric musculoskeletal disorder. Observational studies have pointed to several risk factors for AIS, but almost no evidence exists to support their causal association with A
Externí odkaz:
https://doaj.org/article/628ad1aeebe3444daf065537ed060858
Autor:
Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
Embryonic formation and patterning of the vertebrate spinal column requires coordination of many molecular cues. After birth, the integrity of the spine is impacted by developmental abnormalities of the skeletal, muscular and nervous systems, which m
Externí odkaz:
https://doaj.org/article/d438256959bc43ef97813e6d5d0a7907
Autor:
Nandina Paria, Aysha Khalid, Bo Shen, Ben Lemoine, Jinyan Chan, Yared H Kidane, Ila Oxendine, Reuel Cornelia, Carol A Wise, Jonathan J Rios
Publikováno v:
Journal of Bone and Mineral Research. 38:288-299
Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome caused by heterozygous NF1 gene mutations. Patients with NF1 present with pleiotropic somatic secondary manifestations, including development of bone pseudarthrosis after fracture. Som
Autor:
Hao Yu, Anas M. Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H. Kidane, Reuel Cornelia, Rory Sheng, Yichi Zhang, Jimin Pei, Nick V. Grishin, Bret M. Evers, Jason Pui Yin Cheung, John A. Herring, Chikashi Terao, You-Qiang Song, Christina A. Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J. Rios, Nadav Ahituv, Carol A. Wise
Publikováno v:
bioRxiv
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than five-fold greater risk of severe disease compared to boys. Despite its medical impact, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b6873f64125c5187cc4cbcfa6d92a0
https://europepmc.org/articles/PMC10245954/
https://europepmc.org/articles/PMC10245954/
Autor:
Aki Ushiki, Rory R. Sheng, Yichi Zhang, Jingjing Zhao, Mai Nobuhara, Elizabeth Murray, Xin Ruan, Jonathan J. Rios, Carol A. Wise, Nadav Ahituv
Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A GWAS identified a female-specific AIS susceptibility locus near thePAX1gene. Here, we used mouse enhancer assays,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9a6b2c87b5492f42989393c12eae645
https://doi.org/10.1101/2023.04.12.536497
https://doi.org/10.1101/2023.04.12.536497
Autor:
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Publikováno v:
Human Genetics and Genomics Advances. 4:100188
Autor:
Weisheng Chen, Jiachen Lin, Lianlei Wang, Xiaoxin Li, Sen Zhao, Jiaqi Liu, Zeynep C. Akdemir, Yanxue Zhao, Renqian Du, Yongyu Ye, Xiaofei Song, Yuanqiang Zhang, Zihui Yan, Xinzhuang Yang, Mao Lin, Jianxiong Shen, Shengru Wang, Na Gao, Ying Yang, Ying Liu, Wenli Li, Jia Liu, Na Zhang, Xu Yang, Yuan Xu, Jianguo Zhang, Mauricio R. Delgado, Jennifer E. Posey, Guixing Qiu, Jonathan J. Rios, Pengfei Liu, Carol A. Wise, Feng Zhang, Zhihong Wu, James R. Lupski, Nan Wu
Publikováno v:
Human Mutation. 41
Autor:
Brooke, Sadler, Gabe, Haller, Lilian, Antunes, Xavier, Bledsoe, Jose, Morcuende, Philip, Giampietro, Cathleen, Raggio, Nancy, Miller, Yared, Kidane, Carol A, Wise, Ina, Amarillo, Nephi, Walton, Mark, Seeley, Darren, Johnson, Conner, Jenkins, Troy, Jenkins, Matthew, Oetjens, R Spencer, Tong, Todd E, Druley, Matthew B, Dobbs, Christina A, Gurnett
Publikováno v:
Journal of medical genetics. 56(7)
INTRODUCTION: Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. Copy number variants (CNVs) play an important role in congenital scoliosis, but their role in idiopathic scolios