Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Carol A. Wise"'
Autor:
Aki Ushiki, Rory R. Sheng, Yichi Zhang, Jingjing Zhao, Mai Nobuhara, Elizabeth Murray, Xin Ruan, Jonathan J. Rios, Carol A. Wise, Nadav Ahituv
Publikováno v:
Cell Reports, Vol 43, Iss 3, Pp 113907- (2024)
Summary: Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A genome-wide association study identified a female-specific AIS susceptibility locus near the PAX1 gene. H
Externí odkaz:
https://doaj.org/article/bd9e040e216d463ca06508bc1cda0996
Autor:
Ruichen Rong, Kristin Denton, Kevin W. Jin, Peiran Quan, Zhuoyu Wen, Julia Kozlitina, Stephen Lyon, Aileen Wang, Carol A. Wise, Bruce Beutler, Donghan M. Yang, Qiwei Li, Jonathan J. Rios, Guanghua Xiao
Publikováno v:
Bioengineering, Vol 11, Iss 7, p 670 (2024)
Genetic mouse models of skeletal abnormalities have demonstrated promise in the identification of phenotypes relevant to human skeletal diseases. Traditionally, phenotypes are assessed by manually examining radiographs, a tedious and potentially erro
Externí odkaz:
https://doaj.org/article/a8a5d6b9406040a982c0f988404ae091
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:
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:
HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)
Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated se
Externí odkaz:
https://doaj.org/article/cb1320d2b3eb48cfacde06337026d1f0
Autor:
Nao Otomo, Anas M. Khanshour, Masaru Koido, Kazuki Takeda, Yukihide Momozawa, Michiaki Kubo, Yoichiro Kamatani, John A. Herring, Yoji Ogura, Yohei Takahashi, Shohei Minami, Koki Uno, Noriaki Kawakami, Manabu Ito, Tatsuya Sato, Kei Watanabe, Takashi Kaito, Haruhisa Yanagida, Hiroshi Taneichi, Katsumi Harimaya, Yuki Taniguchi, Hideki Shigematsu, Takahiro Iida, Satoru Demura, Ryo Sugawara, Nobuyuki Fujita, Mitsuru Yagi, Eijiro Okada, Naobumi Hosogane, Katsuki Kono, Masaya Nakamura, Kazuhiro Chiba, Toshiaki Kotani, Tsuyoshi Sakuma, Tsutomu Akazawa, Teppei Suzuki, Kotaro Nishida, Kenichiro Kakutani, Taichi Tsuji, Hideki Sudo, Akira Iwata, Satoshi Inami, Carol A. Wise, Yuta Kochi, Morio Matsumoto, Shiro Ikegawa, Kota Watanabe, Chikashi Terao
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionAdolescent idiopathic scoliosis (AIS) is a disorder with a three-dimensional spinal deformity and is a common disease affecting 1-5% of adolescents. AIS is also known as a complex disease involved in environmental and genetic factors. A r
Externí odkaz:
https://doaj.org/article/dc2885acc10e4fffb1300ea4789cc6bd
Autor:
Chandreshkumar Patel, Anas M. Khanshour, David Wilkes, Jonathan J. Rios, Kelly W. Sheff, Lorien Nassi, Carol A. Wise
Publikováno v:
Clinical Case Reports, Vol 8, Iss 8, Pp 1452-1457 (2020)
Abstract We present the use of whole‐genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.
Externí odkaz:
https://doaj.org/article/76be860ad0644cd09a25ceb24f6f4175
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