Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Kashyap A. Patel"'
Autor:
Rochelle N. Naylor, Kashyap A. Patel, Jarno L. T. Kettunen, Jonna M. E. Männistö, Julie Støy, Jacques Beltrand, Michel Polak, ADA/EASD PMDI, Tina Vilsbøll, Siri A. W. Greeley, Andrew T. Hattersley, Tiinamaija Tuomi
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-17 (2024)
Abstract Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial dia
Externí odkaz:
https://doaj.org/article/c6131c68651d4205b6f18e53add807da
Autor:
Pedro Cardoso, Timothy J. McDonald, Kashyap A. Patel, Ewan R. Pearson, Andrew T. Hattersley, Beverley M. Shields, Trevelyan J. McKinley
Publikováno v:
BMC Medical Research Methodology, Vol 24, Iss 1, Pp 1-17 (2024)
Abstract Background Clinical prediction models can help identify high-risk patients and facilitate timely interventions. However, developing such models for rare diseases presents challenges due to the scarcity of affected patients for developing and
Externí odkaz:
https://doaj.org/article/c97bb83cbf934f38bba047a2417f6b8e
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-11 (2023)
Abstract Background Monogenic insulin resistance (IR) includes lipodystrophy and disorders of insulin signalling. We sought to assess the effects of interventions in monogenic IR, stratified by genetic aetiology. Methods Systematic review using PubMe
Externí odkaz:
https://doaj.org/article/5decb5788abb4bbd9c057675fd67e515
Autor:
Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon, Anna Murray
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Vasomotor symptoms (VMS) can often significantly impact women’s quality of life at menopause. In vivo studies have shown that increased neurokinin B (NKB) / neurokinin 3 receptor (NK3R) signalling contributes to VMS, with previo
Externí odkaz:
https://doaj.org/article/145ca60b899e4205aab6ed58c64c7ff5
Publikováno v:
JCRPE, Vol 15, Iss 1, Pp 90-96 (2023)
The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectu
Externí odkaz:
https://doaj.org/article/8e23ceaaf634424fa9d430fd08ba14f4
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/53ff07ee34de460a842499ebadf9b9a9
Autor:
Alice E. Hughes, M. Geoffrey Hayes, Aoife M. Egan, Kashyap A. Patel, Denise M. Scholtens, Lynn P. Lowe, William L. Lowe Jr, Fidelma P. Dunne, Andrew T. Hattersley, Rachel M. Freathy
Publikováno v:
Wellcome Open Research, Vol 5 (2021)
Background: Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from the WHO 2013 criteria for gestational diabetes (GDM) have different impl
Externí odkaz:
https://doaj.org/article/853cc283a2c3497dab7553506d9d9d3e
Autor:
Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating v
Externí odkaz:
https://doaj.org/article/c595b0f61500403db38923cfcb1308be
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
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 15:90-96
The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5fd8bef6b2cb355016673c18459aa46
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0110
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0110