Associated Papers
A missense mutation sheds light on a novel structure-function relationship of RANKL.
Qiu H et al.
Journal of Cellular Physiology, 2021
Mapping Interactome Networks of DNAJC11, a Novel Mitochondrial Protein Causing Neuromuscular Pathology in Mice.
Violitzi F et al.
Journal of Proteome Research, 2019
High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.
Brommage R et al.
Frontiers in Endocrinology, 2019
32117046 (PubMed )
Supplement: Table_3.docx
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.
Lee S et al.
The Journal of Allergy and Clinical Immunology, 2016
Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Sobacchi C et al.
Nature Reviews. Endocrinology, 2013
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.
Lo Iacono N et al.
Clinical & Developmental Immunology, 2013
A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.
Douni E et al.
Human Molecular Genetics, 2012
Novel Heterozygous HTRA1 Pathogenic Variant Found in a Chinese Family with Autosomal Dominant Cerebral Small Vessel Disease.
Wu C et al.
Annals of Indian Academy of Neurology, 0
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