Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans

Autor: Nicoline Uglebjerg, Fariba Ahmadizar, Dina M. Aly, Marisa Cañadas-Garre, Claire Hill, Annemieke Naber, Asmundur Oddsson, Sunny S. Singh, Laura Smyth, David-Alexandre Trégouët, Layal Chaker, Mohsen Ghanbari, Valgerdur Steinthorsdottir, Emma Ahlqvist, Samy Hadjadj, Mandy Van Hoek, Maryam Kavousi, Amy Jayne McKnight, Eric J. Sijbrands, Kari Stefansson, Matias Simons, Peter Rossing, Tarunveer S. Ahluwalia

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

AimRare genetic variants in the CUBN gene encoding the main albumin-transporter in the proximal tubule of the kidneys have previously been associated with microalbuminuria and higher urine albumin levels, also in diabetes. Sequencing studies in isola

Externí odkaz: https://doaj.org/article/dbf7fce236db4423a59a8c3efbf30bf3

The effect of guideline revisions on vascular complications of type 2 diabetes

Autor: Ralph Heijmans, Sunny S. Singh, Aloysius G. Lieverse, Eric J.G. Sijbrands, Mandy van Hoek

Publikováno v: Therapeutic Advances in Endocrinology and Metabolism, Vol 10 (2019)

Background: The aim of this study was to investigate the impact of implementation and revision of the ‘Diabetes Mellitus type II’ guideline by the Dutch College of General Practitioners (DCGP) on the prevalence and incidence of macrovascular and

Externí odkaz: https://doaj.org/article/dbc49964f4fb4ca4a236faa9df7b828a

Lipoprotein(a) is robustly associated with aortic valve calcium

Autor: Rutger Verbeek, Yannick Kaiser, Daniel Bos, Meike W. Vernooij, Kang H. Zheng, Yolanda B. de Rijke, Eric J.G. Sijbrands, Maryam Kavousi, S. Matthijs Boekholdt, Sunny S Singh, Sara-Joan Pinto, Erik S.G. Stroes

Publikováno v: Heart
Heart, 107(17), 1422-1428. BMJ Publishing Group

ObjectivesTo investigate the prevalence and quantity of aortic valve calcium (AVC) in two large cohorts, stratified according to age and lipoprotein(a) (Lp(a)), and to assess the association between Lp(a) and AVC.MethodsWe included 2412 participants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e567ea87d40efa16fb00b14616c6a96
https://doi.org/10.1136/heartjnl-2021-319044

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

Autor: Frederik J. Hes, Hans Morreau, Alexandra M. J. Langers, Sanne W. ten Broeke, Tom van Wezel, Carli M. J. Tops, Hans J. J. P. Gille, Yvonne J. Vos, Maartje Nielsen, Manon Suerink, Sunny S. Singh, Diantha Terlouw, Hans F. A. Vasen

Publikováno v: Terlouw, D, Suerink, M, Singh, S S, Gille, H J J P, Hes, F J, Langers, A M J, Morreau, H, Vasen, H F A, Vos, Y J, van Wezel, T, Tops, C M, ten Broeke, S W & Nielsen, M 2020, ' Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy ', European Journal of Human Genetics, vol. 28, no. 2, pp. 222-230 . https://doi.org/10.1038/s41431-019-0509-z
European Journal of Human Genetics, 28(2), 222-230. Nature Publishing Group
European Journal of Human Genetics, 28(2), 222-230. NATURE PUBLISHING GROUP
Eur J Hum Genet

This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account factors as adenoma count and year of diagnosis. All application forms used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64ca54262a0c958c6619eb8e537d20b
https://doi.org/10.1038/s41431-019-0509-z

Lipoprotein(a) is a strong risk factor for Aortic Valve Calcium

Autor: Kang H. Zheng, Erik S.G. Stroes, Rutger Verbeek, Sara-Joan Pinto-Sietsma, Eric J.G. Sijbrands, S.M. Boekholdt, Maryam Kavousi, Daniel Bos, Yannick Kaiser, Y B de Rijke, Sunny S Singh

Publikováno v: European Heart Journal. 41

Background Aortic valve calcium (AVC) is an important hallmark of aortic valve stenosis, which is the most common valvular heart disease in the Western world. Studies suggesting an important role for lipoprotein(a) [Lp(a)] in the etiology of AVC are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::69b509b14afb28cdb6388a4a03e0c2b6
https://doi.org/10.1093/ehjci/ehaa946.1873