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Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.
Hum Mol Genet. 2020 Aug 11;29(14):2353-2364. doi: 10.1093/hmg/ddaa118.
Hum Mol Genet. 2020.
PMID: 32588888
Free PMC article.
Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder.
Lee H, Thacker S, Sarn N, Dutta R, Eng C.
Lee H, et al.
Transl Psychiatry. 2019 Jan 17;9(1):13. doi: 10.1038/s41398-018-0364-7.
Transl Psychiatry. 2019.
PMID: 30664625
Free PMC article.
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Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype.
Sarn N, Jaini R, Thacker S, Lee H, Dutta R, Eng C.
Sarn N, et al.
Mol Psychiatry. 2021 May;26(5):1458-1471. doi: 10.1038/s41380-020-0681-0. Epub 2020 Feb 13.
Mol Psychiatry. 2021.
PMID: 32055008
Free PMC article.
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Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation.
Kang SC, Jaini R, Hitomi M, Lee H, Sarn N, Thacker S, Eng C.
Kang SC, et al.
Mol Autism. 2020 Jun 1;11(1):43. doi: 10.1186/s13229-020-00337-2.
Mol Autism. 2020.
PMID: 32487265
Free PMC article.
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Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity.
Sarn N, Thacker S, Lee H, Eng C.
Sarn N, et al.
Mol Autism. 2021 Jun 4;12(1):41. doi: 10.1186/s13229-021-00448-4.
Mol Autism. 2021.
PMID: 34088332
Free PMC article.
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H.
Liu Z, et al. Among authors: sarn nb.
Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124.
Hum Mol Genet. 2023.
PMID: 37531237
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Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Kang SC, Sarn NB, Venegas J, Tan Z, Hitomi M, Eng C.
Kang SC, et al. Among authors: sarn nb.
Mol Psychiatry. 2023 Nov 29. doi: 10.1038/s41380-023-02325-3. Online ahead of print.
Mol Psychiatry. 2023.
PMID: 38030818
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