Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.R101C
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MMP2

NM_004530.6:p.R101C

Associated Papers

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Sahu RK et al.

Cureus, 2025

Multicentric Osteolysis Nodulosis and Arthropathy (MONA): A Case Series and Review of the Literature.

Mamadapur M et al.

Mediterranean Journal of Rheumatology, 2024

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.

Ahmad S et al.

Bone Reports, 2024

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.

Ishaq T et al.

Bmc Musculoskeletal Disorders, 2023

Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children.

Sarker H et al.

Frontiers in Physiology, 2020

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Pichler K et al.

Scientific Reports, 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2016

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

Azzollini J et al.

Journal of Human Genetics, 2014

Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.

Castberg FC et al.

European Journal of Pediatrics, 2013

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