Publications:

Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs754187330

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation

Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S

Publication Date: 2022-09-20

Variant appearance in text: PUS3: L366P

PubMed Link: 36125428

Variant Present in the following documents:

• Main text
• HUMU-43-2063.pdf

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PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

Neurology. Genetics

de Paiva, Anderson Rodrigues Brandão ARB; Lynch, David S DS; Melo, Uirá Souto US; Lucato, Leandro Tavares LT; Freua, Fernando F; de Assis, Bruno Della Ripa BDR; Barcelos, Isabella I; Listik, Clarice C; de Castro Dos Santos, Diego D; Macedo-Souza, Lúcia Inês LI; Houlden, Henry H; Kok, Fernando F

Publication Date: 2019-02

Variant appearance in text: PUS3: 1097T>C; Leu366Pro

PubMed Link: 30697592

Variant Present in the following documents:

• Main text
• NG2018009100.pdf

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