Jonathan J. Rios
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View article: The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis
The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis Open
Adolescent idiopathic scoliosis (AIS) is a twisting spinal deformity that occurs in otherwise healthy children at the time of rapid pre-pubescent growth. AIS affects ∼3% of children worldwide and is the most common musculoskeletal diagnosi…
View article: Author response: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Author response: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
View article: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we first reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candidate…
View article: Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1
Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1 Open
View article: Author response: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Author response: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
View article: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we firstly reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candida…
View article: Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis
Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis Open
Background: Neurofibromatosis type 1 (NF1) is a genetic condition predisposing children to fracture pseudarthroses. MEK inhibitors are U.S. Food and Drug Administration–approved or are under study for the treatment of malignant pathologies…
View article: Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia Open
Biallelic loss-of-function variants in SLC13A1 are a novel cause of skeletal phenotypes in humans with a measurable biomarker. Sulfate measurements should be considered in the clinical interpretation of variants identified in SLC…
View article: Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues
Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues Open
The neurofibromatosis type 1 (NF1) RASopathy is associated with persistent fibrotic nonunions (pseudarthrosis) in human and mouse skeletal tissue. Here, we performed spatial transcriptomics to define the molecular signatures occurring duri…
View article: Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs
Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs Open
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 poten…
View article: Impaired central pattern generators due to abnormal EPHA4 signaling leads to idiopathic scoliosis
Impaired central pattern generators due to abnormal EPHA4 signaling leads to idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we firstly reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candida…
View article: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we first reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candidate…
View article: Joint Public Review: Impaired central pattern generators due to abnormal EPHA4 signaling leads to idiopathic scoliosis
Joint Public Review: Impaired central pattern generators due to abnormal EPHA4 signaling leads to idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we firstly reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candida…
View article: Viable mutations of mouse midnolin suppress B cell malignancies
Viable mutations of mouse midnolin suppress B cell malignancies Open
In a genetic screen, we identified two viable missense alleles of the essential gene Midnolin (Midn) that were associated with reductions in peripheral B cells. Causation was confirmed in mice with targeted deletion of four of six MIDN pro…
View article: EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Open
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we firstly reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candida…
View article: Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality Open
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.…
View article: Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
Full text Figures and data Side by side Abstract eLife assessment eLife digest Introduction Results Discussion Methods Appendix 1 Appendix 2 Data availability References Peer review Author response Article and author information Abstract A…
View article: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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 …
View article: Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Reviewer #1 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Reviewer #1 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Reviewer #3 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Reviewer #3 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Reviewer #3 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Reviewer #3 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Reviewer #1 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Reviewer #1 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Author Response: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Reviewer #2 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Reviewer #2 (Public Review): Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis Open
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…
View article: Impaired glycine neurotransmission causes adolescent idiopathic scoliosis
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis Open
Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity, affecting millions of adolescents worldwide, but it lacks a defined theory of etiopathogenesis. Because of this, treatment of AIS is limited to bracing and/…
View article: RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation Open
View article: Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1 Open
Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral density, are a significant source of morbi…