Výsledky vyhledávání - "Baaij, J.H.F. de"

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

Autor: Viering, D.H.H.M., Hureaux, M., Neveling, K., Latta, F., Kwint, M.P., Blanchard, A., Konrad, M., Bindels, R.J.M., Schlingmann, K.P., Vargas-Poussou, R., Baaij, J.H.F. de

Publikováno v: Journal of the American Society of Nephrology, 34, 333-345
Journal of the American Society of Nephrology, 34, 2, pp. 333-345

Item does not contain fulltext BACKGROUND: Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad07048e8396eae84f15299810c00f74
https://doi.org/10.1681/ASN.2022050627

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Chloride-sensitive signaling turns the potassium switch on

Autor: Hoorn, E.J., Baaij, J.H.F. de

Publikováno v: Kidney International, 102(5), 956-958. Elsevier Inc.
Kidney International, 102, 956-958
Kidney International, 102, 5, pp. 956-958

Item does not contain fulltext The potassium switch refers to plasma potassium regulation of the sodium-chloride cotransporter (NCC), which controls distal sodium delivery and therefore potassium secretion. Low extracellular potassium activates NCC b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b86322015d5e9d7cfbdc6ebf564952
https://pure.eur.nl/en/publications/7a1b1383-41a3-4cd3-be2e-e3e93f1ae7d8

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Magnesium increases insulin-dependent glucose uptake in adipocytes

Autor: Oost, L.J., Kurstjens, S., Ma, C., Hoenderop, J.G.J., Tack, C.J.J., Baaij, J.H.F. de

Publikováno v: Frontiers in Endocrinology, 13

BackgroundType 2 diabetes (T2D) is characterized by a decreased insulin sensitivity. Magnesium (Mg2+) deficiency is common in people with T2D. However, the molecular consequences of low Mg2+ levels on insulin sensitivity and glucose handling have not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a80f427ef96e737566b4fc2653111ed
https://pubmed.ncbi.nlm.nih.gov/36093068

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The association between hypomagnesemia and poor glycaemic control in type 1 diabetes is limited to insulin resistant individuals

Autor: Oost, L.J., Heck, J.I.P. van, Tack, C.J., Baaij, J.H.F. de

Publikováno v: Scientific Reports, 12
Scientific Reports, 12, 1

In a cohort of adults with type 1 diabetes, we examined the prevalence of hypomagnesemia and the correlation of serum magnesium levels with metabolic determinants, such as glycaemic control (as HbA1c), inflammatory markers and circulating cytokines.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebfd91d8742e29a01586f778a2e7b4a5
https://doi.org/10.1038/s41598-022-10436-0

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The genetic spectrum of Gitelman(-like) syndromes

Autor: Schlingmann, K.P., Baaij, J.H.F. de

Publikováno v: Current Opinion in Nephrology and Hypertension, 31, 5, pp. 508-515
Current Opinion in Nephrology and Hypertension, 31, 508-515

Contains fulltext : 283449.pdf (Publisher’s version ) (Open Access) PURPOSE OF REVIEW: Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4be2640dee75fd2fe065c0fc004590
https://repository.ubn.ru.nl/handle/2066/283449

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Higher SBP in female patients with mitochondrial disease

Autor: Viering, D.H.H.M., Borselen, M.D. van, Deinum, J., Bindels, R.J.M., Baaij, J.H.F. de, Janssen, M.C.H.

Publikováno v: Journal of Hypertension, 40, 5, pp. 940-946
Journal of Hypertension, 40, 940-946

Contains fulltext : 250176.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94ec336155ee9afa6c95e83ac3244cd8
https://doi.org/10.1097/HJH.0000000000003095

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A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

Autor: Wijst, J.A. van der, Konrad, Martin, Verkaart, S.A.J., Tkaczyk, Marcin, Latta, F., Altmueller, Janine, Schlingmann, K.P., Baaij, J.H.F. de

Publikováno v: Nephron, 139, 359-366
Nephron, 139, 4, pp. 359-366

Contains fulltext : 194721.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e4c3b830bc05be4514dbea283e8ef373
http://hdl.handle.net/2066/194721

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Rebuttal from Francisco J. Arjona and Jeroen H. F. de Baaij

Autor: Arjona, F.J., Baaij, J.H.F. de

Publikováno v: Journal of Physiology, 596, 5, pp. 753-754
Journal of Physiology, 596, 753-754

Contains fulltext : 187830.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6d3a77d63e41a04f1c0b91c6c883cd03
https://hdl.handle.net/2066/187830

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Capturing HNF1β-mediated gene expression in the kidney

Autor: Tholen, L.E.

Contains fulltext : 286402.pdf (Publisher’s version ) (Closed access) Radboud University, 25 januari 2023 Promotor : Hoenderop, J.G.J. Co-promotor : Baaij, J.H.F. de 202 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fe5f9010217c54f324c2326421ec7af9
https://hdl.handle.net/2066/286402

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