Articles with "genetics pathogenesis" as a keyword



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Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

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Published in 2021 at "Human genetics"

DOI: 10.1007/s00439-021-02324-w

Abstract: Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from retinitis pigmentosa (RP), occasionally accompanied by an altered vestibular… read more here.

Keywords: genetics; syndrome type; therapeutic developments; usher syndrome ... See more keywords
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Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24032075

Abstract: Celiac disease is an autoimmune disease primarily affecting the small intestine that is caused by the ingestion of gluten in genetically susceptible individuals. The development of celiac disease is based on a complex immune response… read more here.

Keywords: celiac disease; disease; disease genetics; genetics pathogenesis ... See more keywords