Výsledky vyhledávání - "Gijs A C Franken"

Akademický článek

CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.

Autor: Zhiyong Bai, Jianlin Feng, Gijs A C Franken, Namariq Al'Saadi, Na Cai, Albert S Yu, Liping Lou, Yuko Komiya, Joost G J Hoenderop, Jeroen H F de Baaij, Lixia Yue, Loren W Runnels

Publikováno v: PLoS Biology, Vol 19, Iss 12, p e3001496 (2021)

Magnesium is essential for cellular life, but how it is homeostatically controlled still remains poorly understood. Here, we report that members of CNNM family, which have been controversially implicated in both cellular Mg2+ influx and efflux, selec

Externí odkaz: https://doaj.org/article/c76f039619694363a455a55068dbbbf7

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

Autor: Katharina Lemberg, Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour, Daanya Salmanullah, Caroline M. Kolvenbach, Ken Saida, Seyoung Yu, Selina Hölzel, Andrew Steinsapir, Kevin A. Goncalves, Camille Nicolas Frank, Gijs A. C. Franken, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Abstract Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encod

Externí odkaz: https://doaj.org/article/2b43dbc3c34549f3b739ef9dbcb0260a

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

Autor: Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

Abstract Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected individuals with CNN

Externí odkaz: https://doaj.org/article/5f5146f8f8c742b290ce015d63777a81

Zobrazit plný text záznamu

Plný text ve formátu HTML

SLC41A1 knockout mice display normal magnesium homeostasis

Autor: Barnabas P. Ilenwabor, Gijs A. C. Franken, Gerhard Sponder, Caro Bos, Peter Racay, Martin Kolisek, Joost G. J. Hoenderop, Jeroen H. F. de Baaij

Publikováno v: American Journal of Physiology : Renal Physiology, 323, 5, pp. F553-F563
American Journal of Physiology : Renal Physiology, 323, F553-F563

SLC41A1 has been hypothesized to mediate Mg2+ extrusion in the distal convoluted tubule and thus regulate Mg2+ homeostasis. This study investigated the role of SLC41A1 in Mg2+ homeostasis in vivo using a transgenic mouse model. Our results demonstrat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165833c02eae0211e1d9cc417cce3ba2
https://pubmed.ncbi.nlm.nih.gov/36049064

Zobrazit plný text záznamu

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

Publikováno v: Human Mutation, 42, 473-486
Human Mutation
Human Mutation, Wiley, 2021, ⟨10.1002/humu.24182⟩
Human Mutation, 42, 4, pp. 473-486

Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::badbe08f4c92db6d3bd966157d385104
http://hdl.handle.net/2066/238837

Zobrazit plný text záznamu

Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects

Autor: Laura A H Siemons, Bram C. J. van der Eerden, Jeroen H. F. de Baaij, René J. M. Bindels, Annabel Christ, Murat Seker, Dominik N. Müller, Gijs A C Franken, Caro Bos, Tilman Breiderhoff, Joost G. J. Hoenderop

Publikováno v: Scientific Reports, 11, 1
Sci. Rep., 11(1):8217
Scientific Reports, 11
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports

Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is under debate, the protein is considered essential for renal Mg2+ reabsorption. Here, we used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d3fcd746d1c43be09f3dfda385ec5f

Zobrazit plný text záznamu

Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia

Autor: Abdulaziz A Bamhraz, Allison Rodrigues, Stephanie Deveau, Gijs A C Franken, Rahul Chanchlani, Jeroen H. F. de Baaij, Rosheen Grady

Publikováno v: Nephron, 145, 6, pp. 717-720
Nephron, 145, 717-720

Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg2+) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11afb1fbf391bf8e04e62ff3024038f5
https://repository.ubn.ru.nl/handle/2066/244787

Zobrazit plný text záznamu

ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs

Autor: Luis Alfonso Martínez-Cruz, Femke Latta, Serge Hardy, Jonathan Boulais, Joost G. J. Hoenderop, Gijs A C Franken, Jean-François Côté, Chao Ma, Antonio Díaz Quintana, Yevgen Zolotarov, Michel L. Tremblay, Marie-Pier Thibault, Jeroen H. F. de Baaij, Elie Kostantin, Noriko Uetani, Irene González-Recio, Irene Díaz-Moreno

Publikováno v: idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Cellular and Molecular Life Sciences, 78, 13, pp. 5427-5445
Cellular and Molecular Life Sciences, 78, 5427-5445
Cellular and Molecular Life Sciences

Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg2+) homeostasis. Using various biochemical approaches, we have identified members of the CNNM family as direct interacting partners of ADP-ribosylation factor-like GTPase 15 (ARL15),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc43bc3701cb4f71ed4f97287b86cbaa
https://doi.org/10.1101/2020.09.09.289835

Zobrazit plný text záznamu

Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney

Autor: Jeroen H. F. de Baaij, Gijs A C Franken, René J. M. Bindels, Anastasia Adella

Publikováno v: Acta Physiologica (Oxford, England)
Acta Physiologica, 231
Acta Physiologica, 231, 2

Contains fulltext : 229882.pdf (Publisher’s version ) (Open Access) Hypomagnesaemia is a common feature of renal Na(+) wasting disorders such as Gitelman and EAST/SeSAME syndrome. These genetic defects specifically affect Na(+) reabsorption in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04dd82a6c53cd46ffc299944c6398b9
http://europepmc.org/articles/PMC7816272

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání