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Article
Open AccessGenomic Characterization and Phylogenetic Analysis of Linezolid-Resistant Enterococcus from the Nostrils of Healthy Hosts Identifies Zoonotic Transmission
Linezolid resistance in Enterococcus spp. is increasingly considered critically important and a public health threat which mandates the need to understand their genomic contents and dissemination patterns. Here, ...
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Article
Open AccessMultiple Correspondence Analysis and HLA-Associations of Organ Involvement in a Large Cohort of African-American and European-American Patients with Sarcoidosis
Sarcoidosis is a systemic granulomatous disease with predominant pulmonary involvement and vast heterogeneity of clinical manifestations and disease outcomes. African American (AA) patients suffer greater morb...
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Article
Open AccessAuthor Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
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Article
Open AccessAuthor Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
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Article
Open AccessGenome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s ...
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Article
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases
Betty Tsao, Jian Zhao, Nan Shen and colleagues show that a common missense variant in NCF1 confers susceptibility to multiple autoimmune diseases. This variant, which leads to reduced production of reactive oxyge...
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Salivary Gland Diseases
Salivary gland diseases, which have a heterogeneous etiology, share a reduction or loss of saliva production and clinical xerostomia. These ailments may be monogenic, neoplastic, autoimmune, infectious, enviro...
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Article
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients pres...
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Article
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome
Kathy Sivils and colleagues report results of a large-scale association study of Sjögren's syndrome, a common autoimmune disease. They confirm strong associations with the HLA region and establish genome-wide ...
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Article
Open AccessUptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is ...
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Article
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families
The etiology of Alzheimer’s disease (AD) is complex. To date, molecular genetic studies in several families affected with AD have identified three genes associated with highly penetrant early-onset AD: Preseni...
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Article
Mutations in EFHC1 cause juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures1,2. We previously mapped and narrowed a region associated with JME on chromosome 6p12–p11 (EJM1)3,4,5. Here, we descri...
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Article
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13–q...
