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Collection : Knaw

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Academic Journal

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Authors : Wong, Tsz Hang; Chiu, Wang Zheng; Breedveld, Guido J

Subjects: Aged; Amyloid beta-Peptides; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits

Source: Wong , T H , Chiu , W Z , Breedveld , G J , Li , K W , Verkerk , A J M H , Hondius , D , Hukema , R K , Seelaar , H , Frick , P , Severijnen , L-A , Lammers , G-J , Lebbink , J H G , van Duinen , S G

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Academic Journal

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Authors : Dougherty, Gerard W; Mizuno, Katsutoshi; Nöthe-Menchen, Tabea

Subjects: Adenine Nucleotides/metabolism; Adolescent; Adult

Source: Dougherty , G W , Mizuno , K , Nöthe-Menchen , T , Ikawa , Y , Boldt , K , Ta-Shma , A , Aprea , I , Minegishi , K , Pang , Y-P , Pennekamp , P , Loges , N T , Raidt , J , Hjeij , R , Wallmeier , J ,

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Academic Journal

Organoid models of fibrolamellar carcinoma mutations reveal hepatocyte transdifferentiation through cooperative BAP1 and PRKAR2A loss

Authors : Rüland, Laura; Andreatta, Francesco; Massalini, Simone

Subjects: Humans; Liver Neoplasms/metabolism; Cell Transdifferentiation/genetics

Source: Rüland , L , Andreatta , F , Massalini , S , Chuva de Sousa Lopes , S , Clevers , H , Hendriks , D & Artegiani , B 2023 , ' Organoid models of fibrolamellar carcinoma mutations reveal hepatocyte

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