Syndrome Brain
증후군 뇌

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10.1161/ATVBAHA.121.316651

R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber syndrome brain CM.

R183Q)는 피부 CM 및 스터지-베버 증후군 뇌 CM의 내피 세포(EC)가 풍부합니다.

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

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10.1097/YCO.0000000000000466

2 Deletion Syndrome Brain and Behavior Consortium have suggested that chromosomal microdeletions are significantly more likely to involve protein-coding genes and several rare copy number variants are associated with the presence of psychosis in deleted individuals.

2 삭제 증후군 Brain and Behavior Consortium은 염색체 미세결실이 단백질 코딩 유전자를 포함할 가능성이 훨씬 더 높고 몇 가지 희귀 카피 수 변이가 삭제된 개인의 정신병 존재와 관련이 있다고 제안했습니다.

Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis

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Syndrome Brain 증후군 뇌 - R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber syndrome brain CM. [1] 2 Deletion Syndrome Brain and Behavior Consortium have suggested that chromosomal microdeletions are significantly more likely to involve protein-coding genes and several rare copy number variants are associated with the presence of psychosis in deleted individuals. [2]
R183Q)는 피부 CM 및 스터지-베버 증후군 뇌 CM의 내피 세포(EC)가 풍부합니다. [1] 2 삭제 증후군 Brain and Behavior Consortium은 염색체 미세결실이 단백질 코딩 유전자를 포함할 가능성이 훨씬 더 높고 몇 가지 희귀 카피 수 변이가 삭제된 개인의 정신병 존재와 관련이 있다고 제안했습니다. [2]