Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.P71L
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MAFB

NM_005461.5:p.P71L

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

Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.

Zhang L et al.

Kidney Diseases (basel, Switzerland), 2024

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 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

Three cases of multicentric carpotarsal osteolysis syndrome: a case series.

Park PG et al.

Bmc Medical Genetics, 2018

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."