Colin G Miles
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Explore the profile of Colin G Miles including associated specialties, affiliations and a list of published articles.
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319
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Recent Articles
1.
Singh P, Lanman N, Kendall H, Wilson L, Long R, Franco O, et al.
Development
. 2023 Jun;
150(13).
PMID: 37376888
The reactivation of developmental genes and pathways during adulthood may contribute to pathogenesis of diseases such as prostate cancer. Analysis of the mechanistic links between development and disease could be...
2.
Devlin L, Coles J, Jackson C, Barroso-Gil M, Green B, Walker W, et al.
Clin Genet
. 2022 Oct;
103(3):330-334.
PMID: 36273371
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting...
3.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
Devane J, Ott E, Olinger E, Epting D, Decker E, Friedrich A, et al.
Am J Hum Genet
. 2022 Apr;
109(5):928-943.
PMID: 35397207
Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not well understood. Several pathways governed by the primary cilium, a sensory antenna present on most vertebrate...
4.
Hayman D, Modebadze T, Charlton S, Cheung K, Soul J, Lin H, et al.
Sci Rep
. 2021 May;
11(1):10452.
PMID: 34001919
MicroRNAs are non-coding RNAs that act to downregulate the expression of target genes by translational repression and degradation of messenger RNA molecules. Individual microRNAs have the ability to specifically target...
5.
Barroso-Gil M, Olinger E, Ramsbottom S, Molinari E, Miles C, Sayer J
Mol Genet Genomic Med
. 2021 Jan;
9(12):e1603.
PMID: 33486889
Background: Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations...
6.
Woods S, Charlton S, Cheung K, Hao Y, Soul J, Reynard L, et al.
RNA
. 2020 Jul;
26(11):1575-1588.
PMID: 32660984
miR-140 is selectively expressed in cartilage. Deletion of the entire locus in mice results in growth retardation and early-onset osteoarthritis-like pathology; however, the relative contribution of miR-140-5p or miR-140-3p to...
7.
Ramsbottom S, Thelwall P, Wood K, Clowry G, Devlin L, Silbermann F, et al.
Proc Natl Acad Sci U S A
. 2019 Dec;
117(2):1113-1118.
PMID: 31879347
Genetic and phenotypic heterogeneity and the lack of sufficiently large patient cohorts pose a significant challenge to understanding genetic associations in rare disease. Here we identify (alias ) as a...
8.
Molinari E, Ramsbottom S, Srivastava S, Booth P, Alkanderi S, McLafferty S, et al.
Sci Rep
. 2019 Jul;
9(1):10828.
PMID: 31346239
Joubert syndrome (JBTS) is an incurable multisystem ciliopathy syndrome. The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal phenotype is CEP290 (alias JBTS5). The encoded CEP290 protein localises...
9.
Ramsbottom S, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, et al.
Proc Natl Acad Sci U S A
. 2018 Nov;
115(49):12489-12494.
PMID: 30446612
Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in underlie a ciliopathy called Joubert syndrome (JBTS). Human disease phenotypes...
10.
Alkanderi S, Molinari E, Shaheen R, ElMaghloob Y, Stephen L, Sammut V, et al.
Am J Hum Genet
. 2018 Oct;
103(4):612-620.
PMID: 30269812
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not...