Associated Papers
A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.
Li JY et al.
American Journal of Medical Genetics. Part A, 2024
Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.
Fujino M et al.
Genes, 2023
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
Gupta N et al.
European Journal of Medical Genetics, 2023
Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.
Lerman MA et al.
Jbmr Plus, 2023
Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.
Ma NS et al.
Current Osteoporosis Reports, 2023
Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.
Drovandi S et al.
Journal of Clinical Medicine, 2022
Monogenic disorders as mimics of juvenile idiopathic arthritis.
Furness L et al.
Pediatric Rheumatology Online Journal, 2022
Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients.
Han Y et al.
Biomolecules, 2021
Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature.
Wu J et al.
Frontiers in Pediatrics, 2021
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M et al.
Clinical Genetics, 2020
Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients.
Tsunakawa Y et al.
Experimental Animals, 2019
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.
Upadia J et al.
Journal of Pediatric Genetics, 2018
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Mumm S et al.
American Journal of Medical Genetics. Part A, 2014
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
Mehawej C et al.
American Journal of Medical Genetics. Part A, 2013
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A et al.
American Journal of Human Genetics, 2012