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Page 1
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Among authors: van kraaij s. Am J Hum Genet. 2020 Aug 6;107(2):374. doi: 10.1016/j.ajhg.2020.07.013. Am J Hum Genet. 2020. PMID: 32763190 Free PMC article. No abstract available.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Among authors: van kraaij s, van scherpenzeel m. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065471 Free PMC article.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Gardeitchik T, et al. Among authors: van kraaij s, van asbeck e, van den brand m. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576219 Free PMC article.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA. Mohamed M, et al. Among authors: van kraaij s. J Inherit Metab Dis. 2020 Nov;43(6):1382-1391. doi: 10.1002/jimd.12255. Epub 2020 Jun 26. J Inherit Metab Dis. 2020. PMID: 32418222 Free PMC article.
Novel Assays to Distinguish Between Properdin-Dependent and Properdin-Independent C3 Nephritic Factors Provide Insight Into Properdin-Inhibiting Therapy.
Michels MAHM, van de Kar NCAJ, van den Bos RM, van der Velden TJAM, van Kraaij SAW, Sarlea SA, Gracchi V, Oosterveld MJS, Volokhina EB, van den Heuvel LPWJ. Michels MAHM, et al. Among authors: van de kar ncaj, van den bos rm, van kraaij saw, van den heuvel lpwj, van der velden tjam. Front Immunol. 2019 Jun 17;10:1350. doi: 10.3389/fimmu.2019.01350. eCollection 2019. Front Immunol. 2019. PMID: 31263464 Free PMC article.
The complement component C5 is not responsible for the alternative pathway activity in rabbit erythrocyte hemolytic assays during eculizumab treatment.
van den Heuvel LP, van de Kar NCAJ, Duineveld C, Sarlea A, van der Velden TJAM, Liebrand WTB, van Kraaij S, Schjalm C, Bouwmeester R, Wetzels JFM, Mollnes TE, Volokhina EB. van den Heuvel LP, et al. Among authors: van de kar ncaj, van kraaij s, van der velden tjam. Cell Mol Immunol. 2020 Jun;17(6):653-655. doi: 10.1038/s41423-020-0406-y. Epub 2020 Mar 24. Cell Mol Immunol. 2020. PMID: 32210393 Free PMC article. No abstract available.
Different Aspects of Classical Pathway Overactivation in Patients With C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.
Michels MAHM, van de Kar NCAJ, van Kraaij SAW, Sarlea SA, Gracchi V, Engels FAPT, Dorresteijn EM, van der Deure J, Duineveld C, Wetzels JFM, van den Heuvel LPWJ, Volokhina EB. Michels MAHM, et al. Among authors: van kraaij saw. Front Immunol. 2021 Aug 11;12:715704. doi: 10.3389/fimmu.2021.715704. eCollection 2021. Front Immunol. 2021. PMID: 34456924 Free PMC article.
Impact of fibre supplementation on microbiome and resilience in healthy participants: A randomized, placebo-controlled clinical trial.
Eveleens Maarse BC, Eggink HM, Warnke I, Bijlsma S, van den Broek TJ, Oosterman JE, Caspers MPM, Sybesma W, Gal P, van Kraaij SJW, Schuren FHJ, Moerland M, Hoevenaars FPM. Eveleens Maarse BC, et al. Among authors: van kraaij sjw. Nutr Metab Cardiovasc Dis. 2024 Jun;34(6):1416-1426. doi: 10.1016/j.numecd.2024.01.028. Epub 2024 Feb 6. Nutr Metab Cardiovasc Dis. 2024. PMID: 38499450 Clinical Trial.
17 results