James Russ‐Silsby

ORCID: 0000-0002-4470-2544
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About
Contact & Profiles
Research Areas
  • 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...

10.1084/jem.20231704 article EN 2024-06-03

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...

10.2337/db23-0498 article EN Diabetes 2023-08-28

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...

10.1101/2025.04.01.25324926 preprint EN cc-by-nc-nd 2025-04-03

<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...

10.21203/rs.3.rs-5282595/v1 preprint EN 2024-10-25

&lt;p dir="ltr"&gt;ONECUT1 (also known as HNF6) is a transcription factor involved in pancreatic development and beta-cell function. Recently, biallelic variants &lt;i&gt;ONECUT1&lt;/i&gt; 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 &gt;400,000 from UK Biobank. We identified frameshift variant NDM one individual....

10.2337/figshare.24018558.v1 preprint EN cc-by-nc-sa 2023-08-31

&lt;p dir="ltr"&gt;ONECUT1 (also known as HNF6) is a transcription factor involved in pancreatic development and beta-cell function. Recently, biallelic variants &lt;i&gt;ONECUT1&lt;/i&gt; 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 &gt;400,000 from UK Biobank. We identified frameshift variant NDM one individual....

10.2337/figshare.24018558 preprint EN cc-by-nc-sa 2023-08-31
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