Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Elisa de Franco"'
Autor:
Ailsa MacCalman, Elisa De Franco, Alice Franklin, Christine S. Flaxman, Sarah J. Richardson, Kathryn Murrall, Joe Burrage, Barts Pancreas Tissue Bank (BPTB), Emma M. Walker, Noel G. Morgan, Andrew T. Hattersley, Emma L. Dempster, Eilis Hannon, Aaron R. Jeffries, Nick D. L. Owens, Jonathan Mill
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-18 (2024)
Abstract Development of the human pancreas requires the precise temporal control of gene expression via epigenetic mechanisms and the binding of key transcription factors. We quantified genome-wide patterns of DNA methylation in human fetal pancreati
Externí odkaz:
https://doaj.org/article/ea742da1a75a4ea5b89b8681cb5b5745
Autor:
A Shaikh, J Dhivyalakshmi, A Kulkarni, Sarah E Flanagan, Andrew T Hattersley, C Alves, A Khadilkar, V Khadilkar, J Wolf, C Oza, A Ozdemir, Z Imane, Evgenia Globa, Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Matthew N Wakeling, Kashyap Amratlal Patel, Elisa De Franco, P K Varthakavi, V Skrabic, I Unic, M Amoli, V Thiruvengadam, B Haliloglu, M Yildiz, N Elbarbary
Publikováno v:
BMJ Open Diabetes Research & Care, Vol 12, Iss 6 (2024)
Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature.Research design and methods To determine the phenoty
Externí odkaz:
https://doaj.org/article/3e8b62c00de44765be3244a6d5cbe058
Autor:
Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-24 (2023)
Abstract Background Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summari
Externí odkaz:
https://doaj.org/article/4cfa59670e5f4584a6699dc739a2fd7b
Publikováno v:
Journal of Diabetes Investigation, Vol 14, Iss 4, Pp 516-521 (2023)
Abstract The MNX1 gene encodes a homeobox transcription factor found to be important for pancreatic beta cell differentiation and development. Mutations of the MNX1 gene that cause permanent neonatal diabetes mellitus (PNDM) are rare and have been re
Externí odkaz:
https://doaj.org/article/49613684c1504c5e8ad83a2f87f0ed06
Autor:
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-16 (2023)
Abstract Dysfunction of the endoplasmic reticulum (ER) in insulin‐producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy‐onset diabetes mellitu
Externí odkaz:
https://doaj.org/article/39116a8baac7473c85e71501c8fe0c4e
Autor:
Alice E. Hughes, Elisa De Franco, Rachel M. Freathy, Fetal Insulin and Growth Consortium, Sarah E. Flanagan, Andrew T. Hattersley
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/2008d1d1bf414edc8ecdf17438782d2c
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 3, Pp 214-222 (2022)
Purpose In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM). This study aimed
Externí odkaz:
https://doaj.org/article/e5f640ab2afa4a58b154d79c11cde5a0
Autor:
Yasemin Denkboy Öngen, Erdal Eren, Özgecan Demirbaş, Elif Sobu, Sian Ellard, Elisa De Franco, Ömer Tarım
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 80-87 (2021)
Objective:Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to pres
Externí odkaz:
https://doaj.org/article/7581c28c44f94a79bac473eee704e61d
Autor:
Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundNeonatal diabetes mellitus (NDM) is a rare (1:90,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Dominantly-acting insulin (INS) gene mutations cause permanent
Externí odkaz:
https://doaj.org/article/e52db62c09124980810fa53d5aa4d7f4
Autor:
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
Publikováno v:
PLoS Computational Biology, Vol 18, Iss 3, p e1009940 (2022)
Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNV
Externí odkaz:
https://doaj.org/article/c7af70826c244fd582a17b691ca455e1