Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rory R Sheng"'
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:
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:
Peter M. Sullivan, Tuancheng Feng, Isabel Iscol Katz, Rory R Sheng, Daniel H. Paushter, Santiago Solé-Domènech, Fenghua Hu, Frederick R. Maxfield, Mohammed Ullah, Xiaochun Wu, Christina S. Mendoza, Laura Camila Martinez Enriquez, Xiaolai Zhou
Publikováno v:
Brain
TMEM106B encodes a lysosomal membrane protein and was initially identified as a risk factor for frontotemporal lobar degeneration. Recently, a dominant D252N mutation in TMEM106B was shown to cause hypomyelinating leukodystrophy. However, how TMEM106
Autor:
Shuyi Mai, Wenjun Xiong, Rory R Sheng, Tuancheng Feng, Fenghua Hu, Junke Zhang, Isabel Iscol Katz, Mohammed Ullah, Haiyuan Yu, Jenn Marie Roscoe
Publikováno v:
EMBO Reports
Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal lobar degeneration (FTLD). Loss of PGRN leads to lysosome dysfunction during aging. TMEM106B, a gene encoding a lysosomal membrane protein, is the main risk factor for FTLD
Autor:
Mariam Okhovat, Jake VanCampen, Kimberly A. Nevonen, Lana Harshman, Weiyu Li, Cora E. Layman, Samantha Ward, Jarod Herrera, Jackson Wells, Rory R. Sheng, Yafei Mao, Blaise Ndjamen, Ana C. Lima, Katinka A. Vigh-Conrad, Alexandra M. Stendahl, Ran Yang, Lev Fedorov, Ian R. Matthews, Sarah A. Easow, Dylan K. Chan, Taha A. Jan, Evan E. Eichler, Sandra Rugonyi, Donald F. Conrad, Nadav Ahituv, Lucia Carbone
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Topological associating domains (TADs) are self-interacting genomic units crucial for shaping gene regulation patterns. Despite their importance, the extent of their evolutionary conservation and its functional implications remain largely un
Externí odkaz:
https://doaj.org/article/65e9bbc94a464705ac4ea7c071b55e77
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:
Yu H; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA., Khanshour AM; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA., Ushiki A; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Otomo N; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, JP., Koike Y; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, JP.; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, JP., Einarsdottir E; Science for Life Laboratory, Department of Gene Technology, KTH-Royal Institute of Technology, Solna, SE., Fan Y; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, CN., Antunes L; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA., Kidane YH; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA., Cornelia R; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA., Sheng R; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Zhang Y; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; School of Pharmaceutical Sciences, Tsinghua University, Beijing, CN., Pei J; Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Grishin NV; Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Evers BM; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Cheung JPY; Department of Orthopaedics and Traumatology LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, CN., Herring JA; Department of Orthopedic Surgery, Scottish Rite for Children, Dallas, TX, USA.; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA., Terao C; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, JP., Song YQ; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, CN., Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA., Gerdhem P; Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet, Stockholm, Uppsala University, Uppsala, SE.; Department of Surgical Sciences, Uppsala University and.; Department of Orthopaedics and Hand Surgery, Uppsala University Hospital, Uppsala, SE., Ikegawa S; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, JP., Rios JJ; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Wise CA; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 22. Date of Electronic Publication: 2023 Nov 22.
Autor:
Nguyen HP; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Sheng R; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Murray E; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Ito Y; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Bruck M; Division of Hematology/Oncology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA., Biellak C; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., An K; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Lynce F; Dana-Farber Cancer Institute, Harvard University, Boston, MA 02215, USA., Dillon DA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Magbanua MJM; Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA 04158, USA., Huppert LA; Division of Hematology/Oncology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA., Hammerlindl H; Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA 94158, USA., Esserman L; Department of Surgery, University of California, San Francisco, San Francisco, CA 94158, USA., Rosenbluth JM; Division of Hematology/Oncology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub - San Francisco, San Francisco, CA 94158, USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2023 Mar 29. Date of Electronic Publication: 2023 Mar 29.