Philippe M. Campeau
A5102849964- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Connective tissue disorders research
- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Congenital heart defects research
- Trypanosoma species research and implications
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Chromatin Remodeling and Cancer
- Bone health and treatments
- Genomics and Chromatin Dynamics
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Bone Metabolism and Diseases
- RNA Research and Splicing
- Cell Adhesion Molecules Research
- Dermatological and Skeletal Disorders
- Genetic Syndromes and Imprinting
- Glycosylation and Glycoproteins Research
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- interferon and immune responses
- Peptidase Inhibition and Analysis
Université de Montréal
2016-2025
Centre Hospitalier Universitaire Sainte-Justine
2016-2025
Collège Montmorency
2024
Queen's University
2022
University of Zurich
2022
Schneider Children's Medical Center
2021
Children's Hospital of Eastern Ontario
2021
Tel Aviv University
2021
Assaf Harofeh Medical Center
2021
Shriners Hospitals for Children - Canada
2021
Abstract The administration of ex vivo culture-expanded mesenchymal stromal cells (MSCs) has been shown to reverse symptomatic neuroinflammation observed in experimental autoimmune encephalomyelitis (EAE). mechanism by which this therapeutic effect occurs remains unknown. In an effort decipher MSC mode action, we found that conditioned medium inhibits EAE-derived CD4 T cell activation suppressing STAT3 phosphorylation via MSC-derived CCL2. Further analysis demonstrates the is dependent on...
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation WNT1, c.652T→G (p.Cys218Gly). separate 2 siblings affected by recessive osteogenesis imperfecta, homozygous nonsense mutation, c.884C→A, p.Ser295*. vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. mice,...
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis this by sequencing most coding exons in affected individuals.Through search available case studies communication with collaborators, we identified families that included at least one individual three five main features DOORS syndrome: deafness, intellectual disability, seizures. Participants were recruited...
During bone homeostasis, osteoblast and osteoclast differentiation is coupled regulated by multiple signaling pathways their downstream transcription factors. Here, we show that microRNA 34 (miR-34) significantly induced BMP2 during differentiation. In vivo, osteoblast-specific gain of miR-34c in mice leads to an age-dependent osteoporosis due the defective mineralization proliferation osteoblasts increased osteoclastogenesis. osteoblasts, targets components Notch pathway, including Notch1,...
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare VPS13D variants including frameshift, missense, and partial duplication mutations a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, childhood onset disorder (chorea, dystonia, or tremor), progressive spastic ataxia paraparesis. Characteristic brain magnetic resonance imaging...
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
Transcription factors operate in developmental processes to mediate inductive events and cell competence, perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, growth. We report that a narrow spectrum amino-acid substitutions within the transactivation domain v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), leucine zipper-containing transcription factor AP1 superfamily, profoundly development. Seven different de novo missense...
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
The transcription factor BCL11B is essential for development of the nervous and immune system, Bcl11b deficiency results in structural brain defects, reduced learning capacity, impaired cell mice. However, precise role humans largely unexplored, except a single patient with missense mutation, affected by multisystem anomalies profound deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations BCL11B. Notably, all them are global...
Abstract Coffin–Siris and Nicolaides–Baraitser syndromes (CSS NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures individuals with various subtypes CSS ( ARID1B , SMARCB1 SMARCA4 ) NCBRS SMARCA2 ). demonstrate that degree similarity some can be greater than within CSS, indicating a link functional basis two syndromes. show chromosome 6q25 microdeletion syndrome, harboring...