Robin J Kleiman
Overview
Explore the profile of Robin J Kleiman including associated specialties, affiliations and a list of published articles.
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29
Citations
883
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Recent Articles
1.
Buttermore E, Anderson N, Chen P, Makhortova N, Kim K, Wafa S, et al.
Front Psychiatry
. 2022 Nov;
13:924956.
PMID: 36405918
16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of 16p13.11 deletions or duplications occur within three well-defined intervals, and despite...
2.
Davidson B, Gao G, Berry-Kravis E, Bradbury A, Bonnemann C, Buxbaum J, et al.
Mol Ther
. 2022 May;
30(7):2416-2428.
PMID: 35585789
We are in an emerging era of gene-based therapeutics with significant promise for rare genetic disorders. The potential is particularly significant for genetic central nervous system disorders that have begun...
3.
Endothelial p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
Huang L, Bichsel C, Norris A, Thorpe J, Pevsner J, Alexandrescu S, et al.
Arterioscler Thromb Vasc Biol
. 2021 Oct;
42(1):e27-e43.
PMID: 34670408
Objective: Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome. The somatic mosaic mutation in (c.548G>A, p.R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber...
4.
Kleiman R, Engle S
Cell Stem Cell
. 2021 Sep;
28(9):1507-1515.
PMID: 34478628
Over the course of the last decade, the biopharmaceutical industry has slowly adopted human inducible pluripotent stem cell (hiPSC) technology to enable the development of humanized model systems to test...
5.
Di Nardo A, Lenoel I, Winden K, Ruhmkorf A, Modi M, Barrett L, et al.
Cell Rep
. 2020 Jun;
31(12):107780.
PMID: 32579942
Tuberous sclerosis complex (TSC) is a neurogenetic disorder that leads to elevated mechanistic targeting of rapamycin complex 1 (mTORC1) activity. Cilia can be affected by mTORC1 signaling, and ciliary deficits...
6.
Kleiman R, Ehlers M
Mol Biol Cell
. 2019 Oct;
30(22):2741-2743.
PMID: 31609671
Discovery and development of new medicines requires the talent and passion of both academic and industrial scientists. Identifying the optimal set of circumstances for direct collaboration between academic and industry...
7.
Shlevkov E, Basu H, Bray M, Sun Z, Wei W, Apaydin K, et al.
Cell Rep
. 2019 Sep;
28(12):3224-3237.e5.
PMID: 31533043
Dysregulated axonal trafficking of mitochondria is linked to neurodegenerative disorders. We report a high-content screen for small-molecule regulators of the axonal transport of mitochondria. Six compounds enhanced mitochondrial transport in...
8.
Lanz T, Reinhart V, Sheehan M, Sukoff Rizzo S, Bove S, James L, et al.
Transl Psychiatry
. 2019 May;
9(1):151.
PMID: 31123247
Psychiatric disorders such as schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD) arise from complex interactions between genetic and environmental factors. Common genetic variants associated with multiple psychiatric...
9.
Engle S, Blaha L, Kleiman R
Neuron
. 2018 Nov;
100(4):783-797.
PMID: 30465765
From the beginning, induced pluripotent stem cell (iPSC) technology was touted as a path to improve our understanding of disease biology and enable drug discovery. Advances in iPSC culture, genome...
10.
Torres A, Brownstein C, Tembulkar S, Graber K, Genetti C, Kleiman R, et al.
Mol Genet Metab Rep
. 2018 Jun;
16:23-29.
PMID: 29922587
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and...