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
37895232 (PubMed )
Supplement: genes-14-01883-s001.zip › genes-2601480-supplementary.pdf
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
Gupta N et al.
European Journal of Medical Genetics, 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
35956038 (PubMed )
Supplement: jcm-11-04423-s001.zip › jcm-1819398-supplementary.pdf
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
Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.
Zhang W et al.
Cancer Medicine, 2019
30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11
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
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