Sun‐Young Kong

Clinical Significance of Ataxia-Telangiectasia Mutated Pathogenic Germline Variant

Ataxia-telangiectasia mutated (ATM) encodes a serine/threonine protein kinase that coordinates the cellular response to DNA double-strand breaks.Biallelic pathogenic variants in ATM cause ataxia-telangiectasia, an autosomal recessive multisystem disorder characterized by progress...

Clinical Significance of BRIP1 Pathogenic Germline Variant

속하는 ATP 의존성 DNA 헬리케이스를 암호화한다.2001년 Cantor 등에 의해 BRCA1-결합 단백질(BRCA1-associated C-terminal helicase 1, BACH1)로 처음 확인되었으며[1], 이후 연구를 통해 판 코니 빈혈 J형(Fanconi anemia complementation group J, FA-J; MIM 609054)의 원인 유전자임이 밝혀져 FANC...