Genes play a highly significant role in the pathogenesis of eye diseases, some of which are highly prevalent in children and adults. Over 60% of cases of childhood blindness are caused by genetic factors (congenital glaucoma, ocular malformations, atrophy of the optic nerve, and retinitis pigmentosa).
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ALS is a motor neuron disease, which is a group of neurological disorders that selectively affect motor neurons with secondary damage to muscles. In a normal body, there is a motor nervous system that works in an orderly manner.
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Genes play a significant role in the pathogenesis of eye diseases, some of which are highly prevalent in children and adults. Over 60% of cases of childhood blindness are caused by genetic factors, such as congenital glaucoma, ocular malformations, atrophy of the optic nerve, and retinitis pigmentosa.
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헌팅턴병(Huntington's disease, HD)은 헌팅턴병이라고도 불리며, 1842년 Waters에 의해 처음 보도되었고, 1872년 미국의사 조지 헌팅턴(George Huntington)이 계통적으로 묘사하여 붙여진 이름이다. HD는 상염색체(Autosomes) 발현성 유전의 기저핵과 대뇌피질 변성 질환으로 희귀하고 치명적인 신경퇴행성 질환이다. 임상적으로는 병, 무용병, 인지장애, 정신행동 이상을 숨기는 것이 특징이다.
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고도로 당효해된 종양은 포도당을 소비하고 과도한 젖산을 방출하기 때문에 Treg세포의 PD-1 발현과 활성을 억제하는데 이는 PD-1 차단 요법의 효과를 일정 부분 저하시킬 수 있습니다. 젖산이 Treg 세포 특유의 대사 검사점이라는 점이 새로운 면역요법 개발에 새로운 아이디어를 제공했다고 보고 있습니다.
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Alternative splicing is the regulatory process of selecting different combinations of splice sites within a messenger RNA precursor (pre-mRNA) to produce variably spliced mRNAs. These multiple mRNAs can encode proteins that vary in their sequence and activity and yet all arise from a single gene.
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