Výsledky vyhledávání - "M van de Kamp"

Akademický článek

SLC26A1 is a major determinant of sulfate homeostasis in humans

Autor: Anja Pfau, Karen I. López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree E.C. Smith, Jiddeke M. van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C. Luft, Peter S. Aronson, Anna Köttgen, Thomas J. Jentsch, Felix Knauf

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 3 (2023)

Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulf

Externí odkaz: https://doaj.org/article/c70d5d8f3506419b8e69ebb496d32f97

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Akademický článek

Solar forcing for CMIP6 (v3.2)

Publikováno v: Geoscientific Model Development, Vol 10, Pp 2247-2302 (2017)

This paper describes the recommended solar forcing dataset for CMIP6 and highlights changes with respect to CMIP5. The solar forcing is provided for radiative properties, namely total solar irradiance (TSI), solar spectral irradiance (SSI), and th

Externí odkaz: https://doaj.org/article/5f1ec29214d040149670913739d5d5d2

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Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

Autor: Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscò, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou

PURPOSECoffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. TheSMARCC2BAFopathy was recently reported. Herein, we present clinical and molecular data on a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c27085d1605a13771b0976056173917e
https://doi.org/10.1101/2023.03.30.23287962

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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Publikováno v: Bassani, S, van Beelen, E, Rossel, M, Voisin, N, Morgan, A, Arribat, Y, Chatron, N, Chrast, J, Cocca, M, Delprat, B, Faletra, F, Giannuzzi, G, Guex, N, Machavoine, R, Pradervand, S, Smits, J J, van de Kamp, J M, Ziegler, A, Amati, F, Marlin, S, Kremer, H, Locher, H, Maurice, T, Gasparini, P, Girotto, G & Reymond, A 2021, ' Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ', Human Molecular Genetics, vol. 30, no. 19, pp. 1785-1796 . https://doi.org/10.1093/hmg/ddab145
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f04c37bdd5fbeef500c5817cdbe20bc
https://doi.org/10.1093/hmg/ddab145

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Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

Autor: Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken

Publikováno v: van de Kamp, J M, Bökenkamp, A, Smith, D E C, Wamelink, M M C, Jansen, E E W, Struys, E A, Waisfisz, Q, Verkleij, M, Hartmann, M F, Wang, R, Wudy, S A, Paganini, C, Rossi, A & Finken, M J J 2023, ' Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia ', Clinical Genetics, vol. 103, no. 1, pp. 45-52 . https://doi.org/10.1111/cge.14239
Clinical Genetics, 103(1), 45-52. Wiley-Blackwell

Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays an essential role in the modulation of numerous compoun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f912b4df94fea3356cb682c253b22d
https://pubmed.ncbi.nlm.nih.gov/36175384

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Akademický článek

TID characterised using joint effort of incoherent scatter radar and GPS

Autor: M. van de Kamp, D. Pokhotelov, K. Kauristie

Publikováno v: Annales Geophysicae, Vol 32, Pp 1511-1532 (2014)

Travelling Ionospheric Disturbances (TIDs), which are caused by Atmospheric Gravity Waves (AGWs), are detected and characterised by a joint analysis of the results of two measurement techniques: incoherent scatter radar and multiple-receiver GPS m

Externí odkaz: https://doaj.org/article/80f0531dddf24615aa5e3ad53f2db647

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