A5027272841- Pancreatic function and diabetes
- Epigenetics and DNA Methylation
- Pancreatic and Hepatic Oncology Research
- Genetics and Neurodevelopmental Disorders
- Diabetes and associated disorders
- Immune Cell Function and Interaction
- Congenital heart defects research
- Immunodeficiency and Autoimmune Disorders
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genetic and Kidney Cyst Diseases
University of Exeter
2022-2024
We previously reported two siblings with inherited PD-1 deficiency who died from autoimmune pneumonitis at 3 and 11 years of age after developing other manifestations, including type 1 diabetes (T1D). report here siblings, aged 10 years, neonatal-onset T1D (diagnosed the ages day 7 wk), are homozygous for a splice-site variant CD274 (encoding PD-L1). This results in exclusive expression an alternative, loss-of-function PD-L1 protein isoform overexpression experiments patients' primary...
ONECUT1 (also known as HNF6) is a transcription factor involved in pancreatic development and β-cell function. Recently, biallelic variants were reported cause of neonatal diabetes mellitus (NDM) two subjects, missense monoallelic associated with type 2 possibly maturity-onset the young (MODY). Here we examine role NDM, MODY, large international cohorts subjects monogenic >400,000 from UK Biobank. We identified frameshift variant NDM one individual. However, found no enrichment or null among...
Gene discovery studies in individuals with diabetes diagnosed within 6 months of life (neonatal diabetes, NDM) can provide unique insights into the development and function human pancreatic beta-cells. We describe identification homozygous PAX4 loss-of-function variants 2 unrelated NDM: a p.(Arg126*) stop-gain variant c.-352_104del deletion affecting first 4 exons. confirmed causes nonsense mediated decay CRISPR-edited induced pluripotent stem cell (iPSC)-derived endoderm cells. Integrated...
<title>Abstract</title> The validity of genetic studies is reliant on the selection appropriately matched population controls to prevent erroneous associations between population-specific variants and disease. Such have traditionally relied self-declared ethnicity which likely produce inaccurate predictions ethically problematic. More recently, ancestry informative markers (AIMs) been used determine similarity an individual reference populations. These AIMS, however, mostly reside in...
<p dir="ltr">ONECUT1 (also known as HNF6) is a transcription factor involved in pancreatic development and beta-cell function. Recently, biallelic variants <i>ONECUT1</i> were reported cause of neonatal diabetes mellitus (NDM) 2 subjects missense monoallelic associated with type possibly maturity-onset the young (MODY). Here we examine role NDM, MODY Type large international cohorts monogenic >400,000 from UK Biobank. We identified frameshift variant NDM one individual....
<p dir="ltr">ONECUT1 (also known as HNF6) is a transcription factor involved in pancreatic development and beta-cell function. Recently, biallelic variants <i>ONECUT1</i> were reported cause of neonatal diabetes mellitus (NDM) 2 subjects missense monoallelic associated with type possibly maturity-onset the young (MODY). Here we examine role NDM, MODY Type large international cohorts monogenic >400,000 from UK Biobank. We identified frameshift variant NDM one individual....