Search Results - "Kastner, D. L."

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein by Ryan, J G, Masters, S L, Booty, M G, Habal, N, Alexander, J D, Barham, B K, Remmers, E F, Barron, K S, Kastner, D L, Aksentijevich, I

“…Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear…”
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The systemic autoinflammatory diseases: inborn errors of the innate immune system by Brydges, S, Kastner, D L

“…The autoinflammatory syndromes are a newly recognized group of immune disorders that lack the high titers of self-reactive antibodies and T cells…”
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Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet’s disease by Erer, B, Takeuchi, M, Ustek, D, Tugal-Tutkun, I, Seyahi, E, Özyazgan, Y, Duymaz-Tozkir, J, Gül, A, Kastner, D L, Remmers, E F, Ombrello, M J

“…The Behçet’s disease (BD)-associated human leukocyte antigen (HLA) allele, HLA-B*51 (B*51), encodes a ligand for a pair of allelic killer immunoglobulin-like…”
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The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators by CENTOLA, M, WOOD, G, O'SHEA, J. J, ROSENBERG, H. F, MALECH, H. L, KASTNER, D. L, FRUCHT, D. M, GALON, J, ARINGER, M, FARRELL, C, KINGMA, D. W, HORWITZ, M. E, MANSFIELD, E, HOLLAND, S. M

“…Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation. We recently…”
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Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population by Aksentijevich, Ivona, Torosyan, Yelizaveta, Samuels, Jonathan, Centola, Michael, Pras, Elon, Chae, Jae Jin, Oddoux, Carole, Wood, Geryl, Azzaro, Maria Pia, Palumbo, Giuseppe, Giustolisi, Rosario, Pras, Mordechai, Ostrer, Harry, Kastner, Daniel L.

“…Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene ( MEFV) was cloned…”
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Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2 by Stratakis, C A, Carney, J A, Lin, J P, Papanicolaou, D A, Karl, M, Kastner, D L, Pras, E, Chrousos, G P

“…Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and…”
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Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever by Shinar, Y, Livneh, A, Langevitz, P, Zaks, N, Aksentijevich, I, Koziol, D E, Kastner, D L, Pras, M, Pras, E

“…To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF). Thirty patients with the…”
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Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health by Samuels, J, Aksentijevich, I, Torosyan, Y, Centola, M, Deng, Z, Sood, R, Kastner, D L

“…Regarded as the most common and best understood of the hereditary periodic fever syndromes, familial Mediterranean fever (FMF) is a recessively inherited…”
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A fever gene comes in from the cold by Kastner, Daniel L, O'Shea, John J

“…The pyrin domain was first noted in the familial Mediterranean fever protein from which it takes its name. It belongs to a structural superfamily that includes…”
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The Hereditary Periodic Fever Syndromes: Molecular Analysis of a New Family of Inflammatory Diseases by Centola, Michael, Aksentijevich, Ivona, Kastner, Daniel L.

“…The hereditary periodic fever syndromes are a group of Mendelian disorders characterized by episodic fever and serosal or synovial inflammation. Familial…”
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Diagnosis of Familial Mediterranean fever by a molecular genetics method by EISENBERG, S, AKSENTIJEVICH, I, ZUOMING DENG, KASTNER, D. L, MATZNER, Y

“…Familial Mediterranean fever is a recessively inherited disorder characterized by episodes of fever with abdominal pain, pleurisy, or arthritis. The familial…”
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Variant form of STAT4 is associated with primary Sjögren's syndrome by Korman, B D, Alba, M I, Le, J M, Alevizos, I, Smith, J A, Nikolov, N P, Kastner, D L, Remmers, E F, Illei, G G

“…Single nucleotide polymorphisms in the STAT4 gene have recently been shown to be associated with rheumatoid arthritis (RA) and systemic lupus erythematosus…”
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Update on CECR1 molecular diagnostics: new mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohort by Stoffels, M, Zhou, Q, Chen, C, Aksentijevich, I, Kastner, DL, Merkel, PA

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Immune dysregulation in patients with TRNT1 deficiency by Giannelou, A, Zhou, Q, Stoffels, M, Stone, D, Ombrello, A, Barron, K, Su, H, Risma, K, Sramkova, L, Sediva, A, Joshi, S, Al Sonbul, A, Sun, H-W, Quezado, M, Gadina, M, Aksentijevich, I, Kastner, DL

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Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk by Remmers, EF, Takeuchi, M, Ombrello, MJ, Kirino, Y, Erer, B, Tugal-Tutkun, I, Seyahi, E, Ozyazgan, Y, Gul, A, Kastner, DL

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Fevers, genes, and innate immunity by Ryan, J G, Kastner, D L

“…The characterization of patients with recurrent inflammatory syndromes into distinct clinical phenotypes provided early clues to the mode of inheritance of…”
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Analysis of CARD15 NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility by Addo, A., Le, J., Li, W., Aksentijevich, I., Balow Jr, J., Lee, A., Gregersen, P. K., Kastner, D. L., Remmers, E. F.

“…Objectives: The CARD15 NOD2 gene product plays an important role in host response to bacterial lipopolysaccharides and bacterial muramyl dipeptide via…”
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Pyrin Binds the PSTPIP1/CD2BP1 Protein, Defining Familial Mediterranean Fever and PAPA Syndrome as Disorders in the Same Pathway by Shoham, Nitza G., Centola, Michael, Mansfield, Elizabeth, Hull, Keith M., Wood, Geryl, Wise, Carol A., Kastner, Daniel L.

“…Pyrin, the familial Mediterranean fever protein, is found in association with the cytoskeleton in myeloid/monocytic cells and modulates IL-1β processing, NF-κB…”
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Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16 by Pras, Elon, Pras, Mordechai, Aksentijevich, Ivona, Gruberg, Luis, Balow, James E, Prosen, Leandrea, Dean, Michael, Steinberg, Alfred D, Kastner, Daniel L

“…Familial Mediterranean fever is a disorder characterized by intermittent attacks of fever with abdominal pain, pleurisy, or arthritis; its symptoms are not…”
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Targeted Disruption of Pyrin, the FMF Protein, Causes Heightened Sensitivity to Endotoxin and a Defect in Macrophage Apoptosis by Chae, Jae Jin, Komarow, Hirsh D., Cheng, Jun, Wood, Geryl, Raben, Nina, Liu, P. Paul, Kastner, Daniel L.

“…Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever and inflammation. Most patients with FMF carry…”
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