American journal of medical genetics. Part A e63614 2024年4月
Sonic hedgehog signaling molecule (SHH) is a key molecule in the cilia-mediated signaling pathway and a critical morphogen in embryogenesis. The association between loss-of-function variants of SHH and holoprosencephaly is well established. In mic...
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using...
OBJECTIVE: Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders such as Pelizaeus-Merzbacher disease (PMD) and MECP2 duplication syndrome. For couples who required a PGT...
Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...
メダカ減数分裂細胞を用いたヒト染色体転座誘導機構の解明とその応用Ministry of Education, Culture, Sports, Science and Technology: Grants-in-Aid for Scientific Research(若手研究(B))稲垣秀人 
研究期間: 2008年 - 2009年
十字架型DNAを利用した安全な遺伝子治療ベクターの開発Ministry of Education, Culture, Sports, Science and Technology: Grants-in-Aid for Scientific Research(若手研究(B))稲垣秀人 
研究期間: 2004年 - 2006年
BACを用いたGTPシクロヒドロラーゼI変異疾患の変異同定系の確立Ministry of Education, Culture, Sports, Science and Technology: Grants-in-Aid for Scientific Research(奨励研究(A))稲垣秀人