Donna S. Mackay

Pvf1-PvR-mediated crosstalk between the trachea and the gut guides intestinal stem cell migration to promote gut regeneration

Donna S. Mackay, Annie John, Christian Christensen, Rihab Loudhaief et autres

Abstract In adult tissues, stem cells (SCs) reside in specialized niches, where they are maintained in a quiescent state until activated by injury. Once activated, they migrate towards injured sites, where they proliferate and differentiate to replenish lost or damaged cells. Although …

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Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies

Albert S. Li, Donna S. Mackay, Howard Chen, Rithwick Rajagopal et autres

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Expanding the Phenotype ofTRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

Sarah Hull, Aeesha NJ Malik, Gavin Arno, Donna S. Mackay et autres

IMPORTANCE: A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized retinal dystrophy is caused by TRNT1. This report of a family with a homozygous mutation in TRNT1 expands the ocular phenotype to include cataract …

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Association between Telomere Length, Inflammation and Cardiovascular Risk.

Liya Lu, Cathy Johnman, L. McGlynn, Donna S. Mackay et autres

INTRODUCTION: Leukocyte telomere length is an indicator of biological aging and is associated with chronic inflammation and clinical cardiovascular (CVD) diseases. Many studies have related shorter telomere length to CVD risk such as using Framingham risk score. The ASSIGN score is the …

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Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

Donna S. Mackay, Thomas M. Bennett, Alan Shiels

Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of …

Molecular investigation of a large UK cohort of early onset retinal dystrophy

Sarah Hull, Robert Henderson, Phillip Moradi, Graham E. Holder et autres

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Re: Halford et al.: Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy (Ophthalmology 2014;121:1174-84) reply

Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis et autres

Author reply

Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis et autres

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Acquired Uniparental Disomy of Chromosome 14 in Myeloid Malignancies Targets the Imprinted MEG3-DLK1 Locus

Andrew Chase, William Leung, William Tapper, Amanda K. Jones et autres

Acquired Uniparental Disomy of Chromosome 14 in Myeloid Malignancies Targets the Imprinted MEG3-DLK1 Locus

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Donna S. Mackay, Thomas M. Bennett, Susan M. Culican, Alan Shiels

BACKGROUND: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we …

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Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

Thomas M. Bennett, Donna S. Mackay, Carla J. Siegfried, Alan Shiels

Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or without systemic and/or other ocular abnormalities. Here we have identified a new locus for inherited cataract and high-tension …

A novel gene for inherited cataract and glaucoma

Alan Shiels, Thomas M. Bennett, Donna S. Mackay, Carla J. Siegfried

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