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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.

• Authors : Van Gorp, Hanne; Saavedra, Pedro H. V.; de Vasconcelos, Nathalia M.

Subjects: FAMILIAL Mediterranean fever; GENETIC mutation; INFLAMMASOMES

• Source: Proceedings of the National Academy of Sciences of the United States of America; 12/13/2016, Vol. 113 Issue 50, p14384-14389, 6p, 3 Graphs

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Mutations in pyrin masquerading as a primary immunodeficiency.

• Authors : Badran, Yousef R.¹; Rajab, Mariam²; Hanna-Wakim, Rima³

Subjects: *IMMUNODEFICIENCY; *PYRIN (Protein); *GENETIC mutation

• Source: Clinical Immunology. Oct2016, Vol. 171, p65-66. 2p.

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Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

• Authors : Grigor'eva, Elena V.; Karapetyan, Lana V.; Malakhova, Anastasia A.

Subjects: FAMILIAL Mediterranean fever; INDUCED pluripotent stem cells; MACROPHAGES

• Source: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 11, p6102, 13p

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EFFECT OF MUTATIONS AND PHOSPHORYLATION ON PYRIN STRUCTURE.

• Authors : SAHAKYAN, H. K.; ARAKELOV, G. G.; NAZARYAN, K. B.

Subjects: GENETIC mutation; PHOSPHORYLATION; PYRIN (Protein)

• Source: Ajastan Kensabanakan Handes; 2016, Vol. 68 Issue 3, p76-80, 5p

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Identification of Mutations in the PYRIN-Containing NLR Genes (NLRP) in Head and Neck Squamous Cell Carcinoma.

• Authors : Lei, Yu¹ ; Lui, Vivian W. Y.²; Grandis, Jennifer R.^2,3

Subjects: *MUTANT proteins; *PYRIN (Protein); *SQUAMOUS cell carcinoma

• Source: PLoS ONE. Jan2014, Vol. 9 Issue 1, p1-9. 9p.

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Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.

• Authors : Reygaerts, Thomas; Laohamonthonkul, Pawat; Hrovat-Schaale, Katja

Subjects: FLOW cytometry; GENETIC mutation; WESTERN immunoblotting

• Source: Rheumatology; Mar2024, Vol. 63 Issue 3, p882-890, 9p

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Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The case of Pyrin Mutations.

Subjects: PYRIN (Protein); GENETIC mutation; INFORMATION technology

• Source: Genomics & Genetics Weekly; 4/26/2024, p1641-1641, 1p

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Lenalidomide for treatment of refractory aphthosis and neutrophilic pustulosis in familial pyrin-associated autoinflammation with neutrophilic dermatosis.

• Authors : Poujade, Laura; Sarrabay, Guillaume; Cezar, Renaud

Subjects: DNA analysis; CANKER sores; BIOPSY

• Source: Rheumatology; Dec2023, Vol. 62 Issue 12, pe338-e340, 3p

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Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

• Authors : Masters, Seth L.; Lagou, Vasiliki; Jéru, Isabelle

Subjects: FAMILIAL Mediterranean fever; NEUTROPHILS; GENETIC mutation

• Source: Science Translational Medicine; 3/30/2016, Vol. 8 Issue 332, p1-9, 9p, 1 Black and White Photograph, 3 Graphs

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Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

• Authors : Önen, Merve Özkılınç; Onat, Umut İ; Uğurlu, Serdal

Subjects: INTERLEUKINS; GENETIC mutation; SEQUENCE analysis

• Source: Rheumatology; Sep2023, Vol. 62 Issue 9, p3188-3196, 9p

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