Lee B Miles
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Explore the profile of Lee B Miles including associated specialties, affiliations and a list of published articles.
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13
Citations
72
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Recent Articles
1.
Mathiyalagan N, Johnson T, Di Pastena Z, Fuller J, Miles L, Dworkin S
Dev Dyn
. 2025 Feb;
PMID: 39976312
Background: Environmental influence is critical for embryogenesis but is significantly under-appreciated under lab conditions, which are not typically designed to robustly test environmental variability. Here, we report environmental effects on...
2.
Dofash L, Miles L, Saito Y, Rivas E, Calcinotto V, Oveissi S, et al.
Brain
. 2024 Nov;
PMID: 39531736
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most...
3.
Miles L, Calcinotto V, Oveissi S, Serrano R, Sonntag C, Mulia O, et al.
Nat Commun
. 2024 Jun;
15(1):5011.
PMID: 38866742
Site-directed insertion is a powerful approach for generating mutant alleles, but low efficiency and the need for customisation for each target has limited its application. To overcome this, we developed...
4.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean C, Zaki M, et al.
Sci Transl Med
. 2024 Apr;
16(741):eadg2841.
PMID: 38569017
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast () and TnI-slow (), are predominantly expressed in fast- and slow-twitch myofibers, respectively. variants are a rare...
5.
Ruparelia A, Montandon M, Merriner J, Huang C, Wong S, Sonntag C, et al.
JCI Insight
. 2024 Mar;
9(8).
PMID: 38530354
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin...
6.
Fung C, Miles L, Bryson-Richardson R, Bird P
Methods Mol Biol
. 2023 Dec;
2750:19-32.
PMID: 38108964
The CRISPR-Cas9 genome editing system is used to induce mutations in genes of interest resulting in the loss of functional protein. A transgenic zebrafish α1-antitrypsin deficiency (AATD) model displays an...
7.
Phatak M, Kulkarni S, Miles L, Anjum N, Dworkin S, Sonawane M
PLoS Genet
. 2021 Sep;
17(9):e1009823.
PMID: 34570762
Epithelia such as epidermis cover large surfaces and are crucial for survival. Maintenance of tissue homeostasis by balancing cell proliferation, cell size, and cell extrusion ensures epidermal integrity. Although the...
8.
Carpinelli M, de Vries M, Auden A, Butt T, Deng Z, Partridge D, et al.
Dis Model Mech
. 2020 Feb;
13(3).
PMID: 32005677
Cleft lip and palate are common birth defects resulting from failure of the facial processes to fuse during development. The mammalian grainyhead-like () genes play key roles in a number...
9.
Mathiyalagan N, Miles L, Anderson P, Wilanowski T, Grills B, McDonald S, et al.
Genes (Basel)
. 2019 Nov;
10(11).
PMID: 31683705
The () and vertebrate - () transcription factors are among the most critical genes for epithelial development, maintenance and homeostasis, and are remarkably well conserved from fungi to humans. Mutations...
10.
Wood A, Cohen N, Joshi V, Li M, Costin A, Hersey L, et al.
Hum Mol Genet
. 2018 Dec;
28(9):1403-1413.
PMID: 30566586
Deficiency of muscle basement membrane (MBM) component laminin-α2 leads to muscular dystrophy congenital type 1A (MDC1A), a currently untreatable myopathy. Laminin--α2 has two main binding partners within the MBM, dystroglycan...