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Chapter
Immunopathogenesis of Celiac Disease
Celiac disease (CD) is a systemic disorder with an immunological basis caused by an abnormal immune response to cereal gluten proteins, affecting to genetically susceptible individuals. The interaction of gene...
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Article
Open AccessComprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accur...
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Article
TNF α and LT α gene polymorphisms as additional markers of celiac disease susceptibility in a DQ2-positive population
TNFα and TNFβ, or linfotoxin (LTα), are two molecules playing an important role in inflammation. Their genes map on Chromosome 6, between the HLA class II and class I loci. Polymorphisms in, or near, TNF genes h...
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Article
The HLA-DRB4 gene is present in half of the Spanish HLA-DQ2-negative celiac patients
We studied nine consecutive DQ2-negative celiacs [from a group of 186 consecutive celiac disease (CD) patients] for the presence of the HLA-DQB1, DRB1, and DRBx alleles. HLA-DR53 was present in only 5 out of 9 (...