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BACKGROUND The origin of infantile haemangioma (IH) remains enigmatic. A primitive mesodermal phenotype origin of IH with the ability to differentiate down erythropoietic and terminal mesenchymal lineages has recently been demonstrated. AIMS To investigate the expression of human embryonic stem cell (hESC) markers in IH and to determine whether IH-derived(More)
BACKGROUND A case definition of Gulf War illness with 3 primary variants, previously developed by factor analysis of symptoms in a US Navy construction battalion and validated in clinic veterans, identified ill veterans with objective abnormalities of brain function. This study tests prestated hypotheses of its external validity. METHODS A stratified(More)
Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation(More)
OBJECTIVE To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. METHODS Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. RESULTS The(More)
The activity and mechanism of action of two microtubule-stabilising agents, laulimalide and peloruside A, were investigated in Saccharomyces cerevisiae. In contrast to paclitaxel, both compounds displayed growth inhibitory activity in yeast with wild type TUB2 and were susceptible to the yeast pleiotropic drug efflux pumps, as evidenced by the increased(More)
Three recent studies discussed the possibility that the National Committee for Clinical Laboratory Standards (NCCLS) recommendations that the coagulation specimen should be the second or third tube collected are unnecessary. However, only one reagent/instrument was used in each study. Our protocol differed from the previous studies because we performed the(More)
OBJECTIVE To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies. METHODS A total of 123 CMD patients were investigated using the traditional approaches of histology, immunohistochemical analysis of muscle biopsy, and candidate gene(More)
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood(More)