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Page 1
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12.
Proc Natl Acad Sci U S A. 2017.
PMID: 29078390
Free PMC article.
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Kretz PF, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I, Brambilla R, Selloum M, Herault Y, Reymond A, Collins SC, Yalcin B.
Kretz PF, et al.
Genome Biol. 2023 Nov 15;24(1):261. doi: 10.1186/s13059-023-03092-8.
Genome Biol. 2023.
PMID: 37968726
Free PMC article.
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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS.
Levitin MO, et al. Among authors: kretz pf.
Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231.
Brain. 2023.
PMID: 37437211
Free PMC article.
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A Method for Parasagittal Sectioning for Neuroanatomical Quantification of Brain Structures in the Adult Mouse.
Collins SC, Wagner C, Gagliardi L, Kretz PF, Fischer MC, Kessler P, Kannan M, Yalcin B.
Collins SC, et al. Among authors: kretz pf.
Curr Protoc Mouse Biol. 2018 Sep;8(3):e48. doi: 10.1002/cpmo.48. Epub 2018 Jun 26.
Curr Protoc Mouse Biol. 2018.
PMID: 29944194
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