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
Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.
Lerman MA et al.
Jbmr Plus, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease.
Chen K et al.
Molecular Syndromology, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M et al.
Clinical Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Three cases of multicentric carpotarsal osteolysis syndrome: a case series.
Park PG et al.
Bmc Medical Genetics, 2018
Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis.
Zhuang L et al.
Swiss Medical Weekly, 2017
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
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