Now showing items 1-10 of 149
Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
(Nature Publishing Group, 2004)
We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ...
Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome
(Nature Publishing Group, 2008)
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ...
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population
(British Med Journal Publ Group, 1997)
Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...
Jak1/2 Inhibition with Baricitinib in the Treatment of Autoinflammatory Interferonopathies
BACKGROUND. Monogenic IFN–mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, ...
Kaposi Sarcoma In A Paediatric Renal Transplant Recipient
(Oxford Univ Press United Kingdom, 1996)
Increased Frequency Of Extremely Skewed X Chromosome Inactivation In Juvenile Idiopathic Arthritis
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...