Publications by authors named "Jonathan Rios"

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Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1.
Aysha Khalid, Nandina Paria, Jonathan J Rios

J Pediatr Soc North Am· August 2025

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The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis.
Diane S Sepich, Ryan S Gray, Nadav Ahituv, Christina A Gurnett, Jonathan J Rios

Dis Model Mech· August 2025

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EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.
Lianlei Wang, Xinyu Yang, Sen Zhao, Pengfei Zheng, Wen Wen, Jonathan J Rios

Elife· July 2025

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KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.
Yu Xun, Yiao Jiang, Aysha Khalid, Zeru Tian, Jonathan Rios

Cell Death Differ· June 2025

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Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis.
Nandina Paria, Ila Oxendine, David Podeszwa, Meghan Wassell, Reuel Cornelia, Jonathan J Rios

J Bone Joint Surg Am· May 2025

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Biallelic loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Christina G Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L Patkar, Jonathan J Rios

Genet Med Open· December 2024

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Jonathan Rios

Genet Med· September 2024

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Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues.
Jonathan J Rios, Conan Juan, John M Shelton, Nandina Paria, Ila Oxendine

JCI Insight· July 2024

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Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs.
Ruichen Rong, Kristin Denton, Kevin W Jin, Peiran Quan, Zhuoyu Wen, Jonathan J Rios

Bioengineering (Basel)· July 2024

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Viable mutations of mouse midnolin suppress B cell malignancies.
Xue Zhong, Nagesh Peddada, James J Moresco, Jianhui Wang, Yiao Jiang, Jonathan J Rios

J Exp Med· June 2024

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A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias.
Brooke M Marvel, Linsley Smith, Jonathan J Rios, Michelle R Christie

Pediatr Neurol· March 2024

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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
Aki Ushiki, Rory R Sheng, Yichi Zhang, Jingjing Zhao, Mai Nobuhara, Jonathan J Rios

Cell Rep· March 2024

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Inheritance of Hb S and G6PD deficiency in a familiar group.
Claudia Bonini Domingos, Jonathan de Oliveira Rios, Leticia Cardoso Orlandini, Lucas Ramos Pereira

Arch Med Sci· March 2024

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Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Andrea M Gross, Scott R Plotkin, Nelson B Watts, Michael J Fisher, Laura J Klesse, Jonathan J Rios

Clin Trials· February 2024

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Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.
Xiaolu Wang, Ming Yue, Jason Pui Yin Cheung, Prudence Wing Hang Cheung, Yanhui Fan, Jonathan J Rios

J Clin Invest· January 2024

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Association of genetic variation in with adolescent idiopathic scoliosis.
Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Jonathan J Rios

Elife· January 2024

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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Jonathan J Rios, Yang Li, Nandina Paria, Ryan J Bohlender, Chad Huff

Am J Hum Genet· December 2023

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Association of genetic variation in with adolescent idiopathic scoliosis.
Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Jonathan J Rios

bioRxiv· November 2023

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Hyperactive KRAS/MAPK signaling disrupts normal lymphatic vessel architecture and function.
Lorenzo M Fernandes, Jeffrey Tresemer, Jing Zhang, Jonathan J Rios, Joshua P Scallan

Front Cell Dev Biol· September 2023

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Deletion of scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
Aki Ushiki, Rory R Sheng, Yichi Zhang, Jingjing Zhao, Mai Nobuhara, Jonathan J Rios

bioRxiv· April 2023

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Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.
Nandina Paria, Aysha Khalid, Bo Shen, Ben Lemoine, Jinyan Chan, Jonathan J Rios

J Bone Miner Res· February 2023

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Organizational Factors Determining Access to Reperfusion Therapies in Ischemic Stroke-Systematic Literature Review.
Ana Botelho, Jonathan Rios, Ana Paula Fidalgo, Eugénia Ferreira, Hipólito Nzwalo

Int J Environ Res Public Health· December 2022

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MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
Peter M K de Blank, Andrea M Gross, Srivandana Akshintala, Jaishri O Blakeley, Gideon Bollag, Jonathan J Rios

Neuro Oncol· November 2022

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Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learning.
Darui Xu, Stephen Lyon, Chun Hui Bu, Sara Hildebrand, Jin Huk Choi, Jonathan J Rios

Proc Natl Acad Sci U S A· July 2021

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Early-Onset Spinal Deformity in Neurofibromatosis Type 1: Natural History, Treatment, and Imaging Surveillance.
Majd Marrache, Krishna V Suresh, Daniel J Miller, Steven Hwang, Elizabeth K Schorry, Jonathan J Rios

JBJS Rev· July 2021

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