Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Autor: Jaap Bakker, Cacha Peeters, Ed Jacobs, Susan M. I. Goorden, Marieke Peetsold, Martijn H. Breuning, Monique Williams, Lydia Hussaarts-Odijk

Publikováno v: Journal of Child Neurology, 36(4), 310-323. SAGE Publishing
Journal of Child Neurology, 36(4), 310-323. SAGE PUBLICATIONS INC

Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase ( FH) gene. Several pathogenic mutations have been published. The article describes an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6199319ea23f6931563aa5bc6acfdbe1
https://doi.org/10.1177/0883073820962931

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

Autor: Ron J W Witteveen, Camiel Verhamme, Ya-Ming Hou, Marianne de Visser, Marian A. J. Weterman, Molly E. Kuo, Susan Kenter, H.M.E. Bienfait, Frank Baas, Fred van Ruissen, Sara Gordillo, Stephanie N. Oprescu, Martijn H. Breuning, Anthony Antonellis, Dyah W Karjosukarso, Marieke Bronk, Ryuichi Takase

Publikováno v: Human Molecular Genetics, 27(23), 4036-4050
Human molecular genetics, 27(23), 4036-4050. Oxford University Press

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three nove

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f0177f14ec15a233ea757ca32c4a94
https://doi.org/10.1093/hmg/ddy290

Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease

Autor: Fatiha el Bouazzaoui, Emile de Heer, Olli Ritvos, Dorien J.M. Peters, Kimberley Veraar, Sebastian B.T. Jianu, Wouter N. Leonhard, Arja Pasternack, Martijn H. Breuning, Steven J. Kunnen, Peter ten Dijke, Willem M.H. Hoogaars, Anna J. Plugge

Publikováno v: Journal of the American Society of Nephrology, 27(12), 3589-3599
Journal of the American Society of Nephrology, 27(12), 3589-3599. American Society of Nephrology
Journal of the American Society of Nephrology
Leonhard, W M, Kunnen, S J, Plugge, A J, Pasternack, A, Jianu, B, Veraar, K, El Bouazzaoui, F, Hoogaars, W, ten Dijke, P, Breuning, M H, de Heer, E, Ritvos, O & Peters, D J 2016, ' Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease. ', Journal of the American Society of Nephrology, vol. 27, no. 12, pp. 3589-3599 . https://doi.org/10.1681/ASN.2015030287

Autosomal dominant polycystic kidney disease (ADPKD), characterized by the formation of numerous kidney cysts, is caused by PKD1 or PKD2 mutations and affects 0.1% of the population. Although recent clinical studies indicate that reduction of cAMP le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93782ea39509f693d8ac7032c683b38c
https://research.vu.nl/en/publications/e444f41f-b3bc-433c-aa69-cc88d1c628e4

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

Autor: Ludolf G. Boven, Marianne Bootsma, Y. L. Hiemstra, Regina Bökenkamp, Johanna C. Herkert, A. M. van Mil, R. F. Veldkamp, R. H. Lekanne Deprez, J. I. van Waning, I. H. M. van der Linde, S. W. ten Broeke, Daniela Q.C.M. Barge-Schaapveld, P. A. van der Zwaag, Jan D. H. Jongbloed, Martijn H. Breuning, Claudia A. L. Ruivenkamp, K. Y. van Spaendonck-Zwarts, M. van Slegtenhorst

Publikováno v: Netherlands heart journal, 25(12), 675-681. Bohn Stafleu van Loghum
Netherlands Heart Journal, 25(12), 675-681. Bohn Stafleu van Loghum
Netherlands Heart Hournal, 25(12), 675-681. Bohn, Stafleu, Van Loghum
Netherlands Heart Journal, 25(12), 675-681
Netherlands Heart Journal

Background Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. Methods In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cd934b218c58d542077816c2f5fd83
https://pure.amc.nl/en/publications/a-dutch-myh7-founder-mutation-pasn1918lys-is-associated-with-early-onset-cardiomyopathy-and-congenital-heart-defects(8a59ad50-3125-42f1-bdf6-265b3ee4079b).html

GPSM2and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America

Autor: Yu Sun, Martijn H. Breuning, Gijs W. E. Santen, Arie van Haeringen, Cacha M.P.C.D. Peeters-Scholte, Rowida Almomani, Yvonne Hendriks, Johan T. den Dunnen, Yvonne Hilhorst-Hofstee, Emmelien Aten, Marjolein Kriek

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 161(5), 973-976. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 161A(5), 973-976
Almomani, R, Sun, Y, Aten, E, Hilhorst-Hofstee, Y, Peeters-Scholte, C M P C, van Haeringen, A, Hendriks, Y M C, den Dunnen, J T, Breuning, M H, Kriek, M & Santen, G W E 2013, ' GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America ', American Journal of Medical Genetics Part A, vol. 161, no. 5, pp. 973-976 . https://doi.org/10.1002/ajmg.a.35808

Chudley-McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cde5ec4c24193622e0577b5d497652
https://doi.org/10.1002/ajmg.a.35808