Lee B. Miles
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View article: Redundant and novel functions of scube genes during zebrafish development
Redundant and novel functions of scube genes during zebrafish development Open
The N-glycoprotein SCUBE family (Scube1, Scube2, and Scube3) plays diverse roles in vertebrate development and disease, yet many specific functions of the three family members remain unclear. These proteins exhibit broad tissue expression …
View article: Loss of the epithelial transcription factor <i>grhl3</i> leads to variably penetrant developmental phenotypes in zebrafish
Loss of the epithelial transcription factor <i>grhl3</i> leads to variably penetrant developmental phenotypes in zebrafish Open
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 effect…
View article: CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit
CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit Open
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 a highly efficient targeted inserti…
View article: Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Open
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare ca…
View article: Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP
Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP Open
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 ligase family, resulti…
View article: Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome
Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome Open
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…
View article: CRIMP: A CRISPR/Cas9 Insertional Mutagenesis Protocol and the CRIMP Toolkit
CRIMP: A CRISPR/Cas9 Insertional Mutagenesis Protocol and the CRIMP Toolkit Open
We developed a highly efficient targeted insertional mutagenesis system, CRIMP, and an associated plasmid toolkit, CRIMPkit, that disrupts native gene expression by inducing complete transcriptional termination to produce null mutant allel…
View article: Grhl3 promotes retention of epidermal cells under endocytic stress to maintain epidermal architecture in zebrafish
Grhl3 promotes retention of epidermal cells under endocytic stress to maintain epidermal architecture in zebrafish Open
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 mechanisms of cell ex…
View article: FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy Open
View article: Inactivation of <i>Zeb1</i> in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure
Inactivation of <i>Zeb1</i> in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure Open
Cleft lip and palate are common birth defects resulting from failure of the facial processes to fuse during development. The mammalian grainyhead-like (Grhl1-3) genes play key roles in a number of tissue fusion processes including neurulat…
View article: Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways
Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways Open
The Drosophila grainyhead (grh) and vertebrate Grainyhead-like (Grhl) transcription factors are among the most critical genes for epithelial development, maintenance and homeostasis, and are remarkably well conserved from fungi to humans. …
View article: RGD inhibition of itgb1 ameliorates laminin-<b><i>α</i></b>2-deficient zebrafish fibre pathology
RGD inhibition of itgb1 ameliorates laminin-<b><i>α</i></b>2-deficient zebrafish fibre pathology Open
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 and integrin…
View article: Mis-expression of grainyhead-like transcription factors in zebrafish leads to defects in enveloping layer (EVL) integrity, cellular morphogenesis and axial extension
Mis-expression of grainyhead-like transcription factors in zebrafish leads to defects in enveloping layer (EVL) integrity, cellular morphogenesis and axial extension Open
The grainyhead-like ( grhl ) transcription factors play crucial roles in craniofacial development, epithelial morphogenesis, neural tube closure, and dorso-ventral patterning. By utilising the zebrafish to differentially regulate expressio…
View article: The requirements for PCP signalling in early zebrafish endoderm morphogenesis
The requirements for PCP signalling in early zebrafish endoderm morphogenesis Open
The vertebrate endodermal cell layer gives rise to the intestine and related organs such as the liver and pancreas. The endodermal organs control many critical metabolic processes including the absorption of nutrients, homoeostasis of bloo…
View article: A role for planar cell polarity during early endoderm morphogenesis
A role for planar cell polarity during early endoderm morphogenesis Open
The zebrafish endoderm begins to develop at gastrulation stages as a monolayer of cells. The behaviour of the endoderm during gastrulation stages is well understood. However, knowledge of the morphogenic movements of the endoderm during so…