Elaine F. Remmers
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View article: Different Sensitivity to Ethanol and Sucrose in DAT and SERT Knockout Rats
Different Sensitivity to Ethanol and Sucrose in DAT and SERT Knockout Rats Open
Background Dopamine and serotonin are key regulators of reward sensitivity, yet their distinct roles in motivating natural (e.g., sucrose) versus drug (e.g., ethanol) rewards remain unclear. Understanding these mechanisms could help explai…
View article: Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome Open
Gain-of-function variants in STAT4 caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American…
View article: Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells
Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells Open
Trisomy 8 mosaicism (T8M) has been associated with a Behçet’s-like inflammatory disease, but immunologic features and treatment responses are not well-characterized. Here, we characterize 20 individuals with constitutional T8M and inflamma…
View article: Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
View article: Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Data from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Data from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Inactivating germline mutations in phosphodiesterase 11A (PDE11A) have been implicated in adrenal tumor susceptibility. PDE11A is highly expressed in endocrine steroidogenic tissues, especially the testis, and mice with inact…
View article: Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
View article: Data from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Data from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Several types of adrenocortical tumors that lead to Cushing syndrome may be caused by aberrant cyclic AMP (cAMP) signaling. We recently identified patients with micronodular adrenocortical hyperplasia who were carriers of inactivating muta…
View article: Data from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Data from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Several types of adrenocortical tumors that lead to Cushing syndrome may be caused by aberrant cyclic AMP (cAMP) signaling. We recently identified patients with micronodular adrenocortical hyperplasia who were carriers of inactivating muta…
View article: Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Data from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Data from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Inactivating germline mutations in phosphodiesterase 11A (PDE11A) have been implicated in adrenal tumor susceptibility. PDE11A is highly expressed in endocrine steroidogenic tissues, especially the testis, and mice with inact…
View article: Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
View article: Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population
Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of <i>PDE11A</i> Sequence Variants That Are Frequent in the Population Open
Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
View article: Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors Open
Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors
View article: Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles
Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles Open
View article: De novoCIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
De novoCIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases Open
Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin …
View article: Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i>
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i> Open
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of vasculitis that can resemble polyarteritis nodosa (PAN). This study was undertaken to identify potential disease‐causing sequence variants in ADA2 in patients wit…
View article: The systemic autoinflammatory diseases: Coming of age with the human genome
The systemic autoinflammatory diseases: Coming of age with the human genome Open
View article: Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis Open
View article: Hypersensitivity reactions to IL-1 and IL-6 inhibitors are linked to common HLA-DRB1*15 alleles
Hypersensitivity reactions to IL-1 and IL-6 inhibitors are linked to common HLA-DRB1*15 alleles Open
In Saper et al (2019), we described systemic JIA patients who developed a high-fatality diffuse lung disease (DLD) while on IL-1 or IL-6 inhibitors. We observed severe delayed drug hypersensitivity reactions (DHR) in a significant subset. …
View article: Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis Open
View article: Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis
Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis Open
Significance In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk lo…
View article: <i>HLA</i>and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry
<i>HLA</i>and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry Open
Significance HLA alleles have previously been implicated with scleroderma risk, but, in this study, using a European American ancestral cohort and a newly recruited large cohort of African Americans, we comprehensively define the HLA allel…
View article: Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans
Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans Open
Objective Whole‐exome sequencing ( WES ) studies in systemic sclerosis ( SS c) patients of European American ( EA ) ancestry have identified variants in the ATP 8B4 gene and enrichment of variants in genes in the extracellular matrix ( ECM…
View article: <i>IL1RN</i> Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin‐1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
<i>IL1RN</i> Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin‐1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis Open
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 assembled to date. Met…