John R Seavitt
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Explore the profile of John R Seavitt including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
1463
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Recent Articles
1.
Elrick H, Peterson K, Willis B, Lanza D, Acar E, Ryder E, et al.
Sci Rep
. 2024 Sep;
14(1):22626.
PMID: 39349521
The International Mouse Phenotyping Consortium (IMPC) systematically produces and phenotypes mouse lines with presumptive null mutations to provide insight into gene function. The IMPC now uses the programmable RNA-guided nuclease...
2.
Lanza D, Mao J, Lorenzo I, Liao L, Seavitt J, Ljungberg M, et al.
Genesis
. 2024 Mar;
62(2):e23589.
PMID: 38523431
Cas9 transgenes can be employed for genome editing in mouse zygotes. However, using transgenic instead of exogenous Cas9 to produce gene-edited animals creates unique issues including ill-defined transgene integration sites,...
3.
Stroup B, Li X, Ho S, Zhouyao H, Chen Y, Ani S, et al.
Dis Model Mech
. 2023 Jul;
16(8).
PMID: 37486182
SLC7A7 deficiency, or lysinuric protein intolerance (LPI), causes loss of function of the y+LAT1 transporter critical for efflux of arginine, lysine and ornithine in certain cells. LPI is characterized by...
4.
Peterson K, Khalouei S, Hanafi N, Wood J, Lanza D, Lintott L, et al.
Commun Biol
. 2023 Jun;
6(1):626.
PMID: 37301944
Genome editing with CRISPR-associated (Cas) proteins holds exceptional promise for "correcting" variants causing genetic disease. To realize this promise, off-target genomic changes cannot occur during the editing process. Here, we...
5.
Wotton J, Peterson E, Flenniken A, Bains R, Veeraragavan S, Bower L, et al.
Pain
. 2022 May;
163(6):1139-1157.
PMID: 35552317
Identifying the genetic determinants of pain is a scientific imperative given the magnitude of the global health burden that pain causes. Here, we report a genetic screen for nociception, performed...
6.
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis
Milosavljevic S, Glinton K, Li X, Medeiros C, Gillespie P, Seavitt J, et al.
Metabolites
. 2022 Apr;
12(4).
PMID: 35448538
Though biallelic variants in are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in...
7.
Marom R, Burrage L, Venditti R, Clement A, Blanco-Sanchez B, Jain M, et al.
Am J Hum Genet
. 2021 Aug;
108(9):1710-1724.
PMID: 34450031
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that...
8.
Birling M, Yoshiki A, Adams D, Ayabe S, Beaudet A, Bottomley J, et al.
Nat Genet
. 2021 Apr;
53(4):416-419.
PMID: 33833456
No abstract available.
9.
Swan A, Schutt C, Rozman J, Muniz Moreno M, Brandmaier S, Simon M, et al.
PLoS Genet
. 2020 Dec;
16(12):e1009190.
PMID: 33370286
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for...
10.
Stroup B, Marom R, Li X, Hsu C, Chang C, Truong L, et al.
Hum Mol Genet
. 2020 Jun;
29(13):2171-2184.
PMID: 32504080
Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the...