Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome

Open Access

Peer-reviewed

Research Article

Naoki Hamajima ,

* E-mail: nhamajim@med.nagoya-cu.ac.jp

Affiliation Department of Pediatrics, Nagoya City West Medical Center, Nagoya, Aichi, Japan
⨯
Yoshikazu Johmura,

Affiliation Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan
⨯
Satoshi Suzuki,

Affiliation Department of Pediatrics, Nagoya City West Medical Center, Nagoya, Aichi, Japan
⨯
Makoto Nakanishi,

Affiliation Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan
⨯
Shinji Saitoh

Affiliation Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan
⨯

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Transfection
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Mutation
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Plasmid construction
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Immunoprecipitation
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Proteasomes
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Cell cycle and cell division
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Mutation detection
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Nucleotide sequencing
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