Concepedia

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne‐Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, D Teillac-Hamel, Alain Fischer, Geneviève de Saint Basile

The American Journal of Human Genetics · 2002 · 741 citations · 22 references

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22

Apaf-1, a Human Protein Homologous to C. elegans CED-4, Participates in Cytochrome c–Dependent Activation of Caspase-3

Hua Zou, William J. Henzel, Xuesong Liu et al. · Cell · 1997 · 3.1K citations · Full text

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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide et al. · Nature Genetics · 2001 · 1.7K citations

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A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

The International FMF Consortium · Cell · 1997 · 1.5K citations · Full text

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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

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