Sara MacKay
A5014923797- Connective tissue disorders research
- Bone health and treatments
- Genomics and Rare Diseases
- Pelvic and Acetabular Injuries
- RNA Research and Splicing
- Congenital heart defects research
- Bone and Dental Protein Studies
- Genetic and Kidney Cyst Diseases
- Protein Tyrosine Phosphatases
- Eosinophilic Disorders and Syndromes
- RNA regulation and disease
- Peptidase Inhibition and Analysis
- Spatial Cognition and Navigation
- Hedgehog Signaling Pathway Studies
- Augmented Reality Applications
- Cancer-related gene regulation
- Wnt/β-catenin signaling in development and cancer
- Neonatal Respiratory Health Research
- Galectins and Cancer Biology
- Amyotrophic Lateral Sclerosis Research
- Ubiquitin and proteasome pathways
- Geographic Information Systems Studies
- Genomic variations and chromosomal abnormalities
- Proteoglycans and glycosaminoglycans research
- Genetic Syndromes and Imprinting
Izaak Walton Killam Health Centre
2013-2023
Dalhousie University
2019
Brigham Young University
2016
University of Oxford
2013
St. John’s Health Sciences Centre
2012
Abstract Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, similar deletions have been identified in individuals developmental delay dysmorphic features. We 34 probands exonic following referral clinical microarray‐based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum deletions, we report features 27 who represent 23 these families. The frequency among our postnatally diagnosed patients...
The exosome is a conserved multi-protein complex that essential for correct RNA processing. Recessive variants in components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive EXOSC9 the effect function vitro individuals' fibroblasts skeletal muscle vivo zebrafish. clinical presentation was severe, early-onset,...
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, advanced carpal ossification. Two forms have been distinguished on the basis of presence (type 1) or absence 2) characteristic hand anomalies. We identified mutations in calcium activated nucleotidase 1 gene (CANT1) DD type 1. Recently, CANT1 reported Kim variant DD, metacarpals elongated phalanges. has overlapping features with spondyloepiphyseal congenital joint dislocations (SDCD)...
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described variable features both disorders, COL1A1/COL1A2; but this phenotype has not included the current classification. Here, we expand re-define OI/EDS overlap as a missing EDS type. Twenty-one individuals 13 families were reported, whom found after suspicion EDS. None them could...
BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated human embryogenesis tumorigenesis. Here, we established loss-of-function variants as causative for neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic BCAS3. All probands share global developmental delay accompanied by pyramidal tract involvement, microcephaly,...
Purpose – The purpose of this paper is to investigate similar and different wayfinding strategies used by novice expert patrons at an academic library. Design/methodology/approach study employed a usability approach. In total, 12 people, places, or things were identified as important for students be able locate within Students from one three groups (high school, freshmen, seniors) randomly assigned scenario requiring them find the indicated person, place, thing. Student researchers video...