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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: mulder aa. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: mulder aa. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G, Hack RJ, Mulder AA, Cerfontaine MN, van Doorn R, Hegeman IM, Jost CR, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: mulder aa. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30. Neuropathol Appl Neurobiol. 2022. PMID: 34297860 Free PMC article.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Hack RJ, Gravesteijn G, Cerfontaine MN, Hegeman IM, Mulder AA, Lesnik Oberstein SAJ, Rutten JW. Hack RJ, et al. Among authors: mulder aa. Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18. Stroke. 2022. PMID: 35300531 Free PMC article.
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.
Gravesteijn G, Munting LP, Overzier M, Mulder AA, Hegeman I, Derieppe M, Koster AJ, van Duinen SG, Meijer OC, Aartsma-Rus A, van der Weerd L, Jost CR, van den Maagdenberg AMJM, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: mulder aa. Transl Stroke Res. 2020 Jun;11(3):517-527. doi: 10.1007/s12975-019-00742-7. Epub 2019 Oct 30. Transl Stroke Res. 2020. PMID: 31667734 Free PMC article.
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Buck TM, Quinn PMJ, Pellissier LP, Mulder AA, Jongejan A, Lu X, Boon N, Koot D, Almushattat H, Arendzen CH, Vos RM, Bradley EJ, Freund C, Mikkers HMM, Boon CJF, Moerland PD, Baas F, Koster AJ, Neefjes J, Berlin I, Jost CR, Wijnholds J. Buck TM, et al. Among authors: mulder aa. Stem Cell Reports. 2023 Sep 12;18(9):1793-1810. doi: 10.1016/j.stemcr.2023.07.001. Epub 2023 Aug 3. Stem Cell Reports. 2023. PMID: 37541258 Free PMC article.
67 results