Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Sign Up to like & getrecommendations! 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
Anterior segment dysgenesis: part II—genetics and pathogenesis
Sign Up to like & getrecommendations! Published in 2024 at "Expert Review of Ophthalmology"
DOI: 10.1080/17469899.2024.2326135
Abstract: ABSTRACT Introduction Anterior segment dysgeneses are congenital anomalies that predominantly involve the cornea, iris, anterior chamber, iridocorneal angle structures, and ciliary body, but may also have posterior segment findings. Genetic causes of these diseases have… read more here.
Keywords: genetics; dysgenesis part; segment; segment dysgenesis ... See more keywords
Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients
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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