Associated Papers
Genetic background influences the phenotypic penetrance by MAFA S64F MODY in male mice.
Loyd Z et al.
Biorxiv : the Preprint Server for Biology, 2025
Defining unique structural features in the MAFA and MAFB transcription factors that control Insulin gene activity.
Cha J et al.
The Journal of Biological Chemistry, 2024
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
Defining unique structural features in the MAFA and MAFB transcription factors that control Insulin gene activity.
Cha J et al.
Biorxiv : the Preprint Server for Biology, 2024
Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.
Ma NS et al.
Current Osteoporosis Reports, 2023
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
34722426 (PubMed )
Supplement: Presentation_1.pdf
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
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
Select a paper to view details