Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Autor: Michael N. Weedon, Jill T. Norman, Monika Mozere, Michael Koettgen, Andrew Parrish, Anne Kesselheim, Naomi Issler, R. Drynda, André W. Brändli, Sofia A. Rahman, Anna Marie Bussell, Mehmet Tekman, Jesús Pozo, Horia Stanescu, Elizabeth Crowne, Elena García-Martínez, Patricia D. Wilson, Detlef Bockenhauer, Craig Jefferies, Oscar Rubio Cabezas, José María Martos, Vaksha Patel, Enriko Klootwijk, Richard Caswell, Montserrat Antón-Gamero, Daniela Iancu, Chris Cheshire, Simona Dumitriu, Hana Lango-Allen, Matthew B. Johnson, Peter B. Jones, Neil J. Sebire, Jesús Argente, Khalid Hussain, Sarah E. Flanagan, Julian P Hamilton-Shield, Celia Pérez-Cerdá, Peter D. Turnpenny, William van’t Hoff, Wesley Hayes, Daan H H M Viering, Lisa M. Guay-Woodford, Wendy Lewis, Alexis Hofherr, Robert Kleta, Sian Ellard

Publikováno v: Cabezas, O R, Flanagan, S E, Stanescu, H, García-Martínez, E, Caswell, R, Lango-Allen, H, Antón-Gamero, M, Argente, J, Bussell, A M, Brandli, A, Cheshire, C, Crowne, E, Dumitriu, S, Drynda, R, Hamilton-Shield, J P, Hayes, W, Hofherr, A, Iancu, D, Issler, N, Jefferies, C, Jones, P, Johnson, M, Kesselheim, A, Klootwijk, E, Koettgen, M, Lewis, W, Martos, J M, Mozere, M, Norman, J, Patel, V, Parrish, A, Pérez-Cerdá, C, Pozo, J, Rahman, S A, Sebire, N, Tekman, M, Turnpenny, P D, Van'T Hoff, W, Viering, D H H M, Weedon, M N, Wilson, P, Guay-Woodford, L, Kleta, R, Hussain, K, Ellard, S & Bockenhauer, D 2017, ' Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 ', Journal of the American Society of Nephrology, vol. 28, no. 8, pp. 2529-2539 . https://doi.org/10.1681/ASN.2016121312
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5950ac964fcee8818a8545a3098a42c6
https://europepmc.org/articles/PMC5533241/

The role of non-placental signals in the adaptation of islets to pregnancy

Autor: R. Drynda, Peter M. Jones, C. J. Peters, James E. Bowe

Publikováno v: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. 47(1)

It is well established that the maternal β-cell mass increases during pregnancy in both humans and rodents to compensate insulin resistance and increased metabolic demand, and rapidly returns to normal levels post-partum. However, the mechanisms und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f811a59d306dde5bf95037d5650b71c
https://pubmed.ncbi.nlm.nih.gov/25506682

Reduced nuclear protein 1 expression improves insulin sensitivity and protects against diet-induced glucose intolerance through up-regulation of heat shock protein 70

Autor: Dany Muller, Shanta J. Persaud, Juan L. Iovanna, Bo Liu, A.M. Rodriguez De Ledesma, Peter M. Jones, R. Drynda, Helena C. Barbosa-Sampaio, Cédric Malicet

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (5):962-969

We recently reported that deletion of the stress-regulated nuclear protein 1 (Nupr1) protected against obesity-associated metabolic alterations due to increased beta cell mass, but complete Nupr1 ablation was not advantageous since it led to insulin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2167dc61b7642282760823a06dfecbb

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