Daniel L. Kastner

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits (2007)

Amos, Christopher I, Chen, Wei, Remmers, Elaine, Siminovitch, Katherine A, Seldin, Michael F, Criswell, Lindsey A, ...

Abstract For Genetic Analysis Workshop 15 Problem 2, we organized data from several ongoing studies designed to identify genetic and environmental risk factors for rheumatoid arthritis. Data were...

Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: A prominent splice isoform lacks the C-terminal domain that is highly mutated in familial mediterranean fever (2004)

Diaz, Arturo, Hu, Chunbo, Kastner, Daniel L., Schaner, Philip, Reginato, Anthony M., Richards, Neil, ...

Objective To investigate the expression of the familial Mediterranean fever (FMF) gene ( MEFV ) in human synovial fibroblasts. Methods MEFV messenger RNA in synovial fibroblasts, chondrocytes, and...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressorfor testicular cancer. Here, we report the characterization of...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Localization, expression and genomic structure of the gene encoding the human serine protease testisin (2000)

Hooper, John D., Bowen, Natalie, Marshall, Heidi, Cullen, Lara M., Sood, Raman, Daniels, Rachael, ...

Testisin is a recently identified human serine protease expressed by premeiotic testicular germ cells and is a candidate tumor suppressor for testicular cancer. Here, we report the characterization...

Construction of an ~700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3 (1998)

Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups (1997)

Balow, James E., Shelton, David A., Orsborn, Annette, Mangelsdorf, Marie, Aksentijevich, Ivona, Blake, Trevor, ...

Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by mutations in a gene (designated MEFV) on chromosome 16p13.3, We have recently constructed a 1-Mb cosmid contig...

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

Shoham, Nitza G., Centola, Michael, Mansfield, Elizabeth, Hull, Keith M., Wood, Geryl, Wise, Carol A., ...

Pyrin, the familial Mediterranean fever protein, is found in association with the cytoskeleton in myeloid/monocytic cells and modulates IL-1β processing, NF-κB activation, and apoptosis. These...

Construction of an ∼700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3

Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...

We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial...

A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis

Begovich, Ann B., Carlton, Victoria E. H., Honigberg, Lee A., Schrodi, Steven J., Chokkalingam, Anand P., Alexander, Heather C., ...

Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting ∼1% of the adult population worldwide, with an estimated heritability of 60%. To identify genes involved in RA...

The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

Aksentijevich, Ivona, Galon, Jérôme, Soares, Miguel, Mansfield, Elizabeth, Hull, Keith, Oh, Hye-Hyun, ...

Mutations in the extracellular domain of the 55-kD tumor-necrosis factor (TNF) receptor (TNFRSF1A), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor–associated...

A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

Jawaheer, Damini, Seldin, Michael F., Amos, Christopher I., Chen, Wei V., Shigeta, Russell, Monteiro, Joanita, ...

Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United...

Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4

Plenge, Robert M., Padyukov, Leonid, Remmers, Elaine F., Purcell, Shaun, Lee, Annette T., Karlson, Elizabeth W., ...

Candidate-gene association studies in rheumatoid arthritis (RA) have lead to encouraging yet apparently inconsistent results. One explanation for the inconsistency is insufficient power to detect...

Refined mapping of the gene causing familial mediterranean fever, by linkage and homozygosity studies

Aksentijevich, Ivona, Pras, Elon, Gruberg, Luis, Shen, Yang, Holman, Katherine, Helling, Sharon, ...

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. We recently reported linkage of the...

Familial mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis

Aksentijevich, Ivona, Pras, Elon, Gruberg, Luis, Shen, Yang, Holman, Katherine, Helling, Sharon, ...

Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated “MEF”) is on 16p, with the gene order...

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

Shoham, Nitza G., Centola, Michael, Mansfield, Elizabeth, Hull, Keith M., Wood, Geryl, Wise, Carol A., ...

Pyrin, the familial Mediterranean fever protein, is found in association with the cytoskeleton in myeloid/monocytic cells and modulates IL-1β processing, NF-κB activation, and apoptosis. These...

Construction of an ∼700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3

Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...

We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial...

A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis

Begovich, Ann B., Carlton, Victoria E. H., Honigberg, Lee A., Schrodi, Steven J., Chokkalingam, Anand P., Alexander, Heather C., ...

Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting ∼1% of the adult population worldwide, with an estimated heritability of 60%. To identify genes involved in RA...

The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

Aksentijevich, Ivona, Galon, Jérôme, Soares, Miguel, Mansfield, Elizabeth, Hull, Keith, Oh, Hye-Hyun, ...

Mutations in the extracellular domain of the 55-kD tumor-necrosis factor (TNF) receptor (TNFRSF1A), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor–associated...

PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis

Carlton, Victoria E. H., Hu, Xiaolan, Chokkalingam, Anand P., Schrodi, Steven J., Brandon, Rhonda, Alexander, Heather C., ...

The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene, PTPN22, has been associated with multiple...

A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

Jawaheer, Damini, Seldin, Michael F., Amos, Christopher I., Chen, Wei V., Shigeta, Russell, Monteiro, Joanita, ...

Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United...

Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4

Plenge, Robert M., Padyukov, Leonid, Remmers, Elaine F., Purcell, Shaun, Lee, Annette T., Karlson, Elizabeth W., ...

Candidate-gene association studies in rheumatoid arthritis (RA) have lead to encouraging yet apparently inconsistent results. One explanation for the inconsistency is insufficient power to detect...

Refined mapping of the gene causing familial mediterranean fever, by linkage and homozygosity studies

Aksentijevich, Ivona, Pras, Elon, Gruberg, Luis, Shen, Yang, Holman, Katherine, Helling, Sharon, ...

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. We recently reported linkage of the...

Familial mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis

Aksentijevich, Ivona, Pras, Elon, Gruberg, Luis, Shen, Yang, Holman, Katherine, Helling, Sharon, ...

Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated “MEF”) is on 16p, with the gene order...

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production

Chae, Jae Jin, Wood, Geryl, Masters, Seth L., Richard, Katharina, Park, Grace, Smith, Brian J., ...

Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with high carrier frequencies in the Middle East. Pyrin, the protein mutated in FMF, regulates caspase-1...

Mutations in the SLC3A1 Transporter Gene in Cystinuria

Pras, Elon, Raben, Nina, Golomb, Eliahu, Arber, Nadir, Aksentijevich, Ivona, Schapiro, Jonathan M., ...

Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid–transport gene on chromosome 2, we recently...

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

Lobito, Adrian A., Kimberley, Fiona C., Muppidi, Jagan R., Komarow, Hirsh, Jackson, Adrianna J., Hull, Keith M., ...

Tumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1...

Association of STAT4 with Rheumatoid Arthritis in the Korean Population

Lee, Hye-Soon, Remmers, Elaine F, Le, Julie M, Kastner, Daniel L, Bae, Sang-Cheol, Gregersen, Peter K

A recent study in the North American White population has documented the association of a common STAT4 haplotype (tagged by rs7574865) with risk for rheumatoid arthritis (RA) and systemic lupus...

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

Amos, Christopher I, Chen, Wei Vivien, Remmers, Elaine, Siminovitch, Katherine A, Seldin, Michael F, Criswell, Lindsey A, ...

For Genetic Analysis Workshop 15 Problem 2, we organized data from several ongoing studies designed to identify genetic and environmental risk factors for rheumatoid arthritis. Data were derived from...

Several Regions in the Major Histocompatibility Complex Confer Risk for Anti-CCP-Antibody Positive Rheumatoid Arthritis, Independent of the DRB1 Locus

Lee, Hye-Soon, Lee, Annette T, Criswell, Lindsey A, Seldin, Michael F, Amos, Christopher I, Carulli, John P, ...

Recent evidence suggests that additional risk loci for RA are present in the major histocompatibility complex (MHC), independent of the class II HLA-DRB1 locus. We have now tested a total of 1,769...

Specificity of the STAT4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus

Taylor, Kimberly E., Remmers, Elaine F., Lee, Annette T., Ortmann, Ward A., Plenge, Robert M., Tian, Chao, ...

Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for...

A Large-Scale Rheumatoid Arthritis Genetic Study Identifies Association at Chromosome 9q33.2

Chang, Monica, Rowland, Charles M., Garcia, Veronica E., Schrodi, Steven J., Catanese, Joseph J., ...

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease affecting both joints and extra-articular tissues. Although some genetic risk factors for RA are well-established, most notably...

Pyrin Modulates the Intracellular Distribution of PSTPIP1

Waite, Andrea L., Schaner, Philip, Richards, Neil, Balci-Peynircioglu, Banu, Masters, Seth L., Brydges, Susannah D., ...

PSTPIP1 is a cytoskeleton-associated adaptor protein that links PEST-type phosphatases to their substrates. Mutations in PSTPIP1 cause PAPA syndrome (Pyogenic sterile Arthritis, Pyoderma gangrenosum,...

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-κB through its N-terminal fragment

Chae, Jae Jin, Wood, Geryl, Richard, Katharina, Jaffe, Howard, Colburn, Nona T., Masters, Seth L., ...

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV, which encodes a 781–amino acid protein denoted pyrin. We have previously shown that pyrin regulates...