Výsledky vyhledávání - "Alphons P. M. Stassen"

Akademický článek

Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup

Autor: Antoni Vallbona-Garcia, Patrick J. Lindsey, Rick Kamps, Alphons P. M. Stassen, Nhan Nguyen, Florence H. J. van Tienen, Ilse H. J. Hamers, Rianne Hardij, Marike W. van Gisbergen, Birke J. Benedikter, Irenaeus F. M. de Coo, Carroll A. B. Webers, Theo G. M. F. Gorgels, Hubert J. M. Smeets

Publikováno v: Frontiers in Ophthalmology, Vol 3 (2024)

IntroductionPrimary open-angle glaucoma (POAG) is a characteristic optic neuropathy, caused by degeneration of the optic nerve-forming neurons, the retinal ganglion cells (RGCs). High intraocular pressure (IOP) and aging have been identified as major

Externí odkaz: https://doaj.org/article/6d3868ee3c8f44a88fd87508edffd404

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Akademický článek

Fitter Mitochondria Are Associated With Radioresistance in Human Head and Neck SQD9 Cancer Cells

Autor: Debora Grasso, Hyllana C. D. Medeiros, Luca X. Zampieri, Vanesa Bol, Pierre Danhier, Marike W. van Gisbergen, Caroline Bouzin, Davide Brusa, Vincent Grégoire, Hubert Smeets, Alphons P. M. Stassen, Ludwig J. Dubois, Philippe Lambin, Marie Dutreix, Pierre Sonveaux

Publikováno v: Frontiers in Pharmacology, Vol 11 (2020)

The clinical management of head and neck squamous cell carcinoma (HNSCC) commonly involves chemoradiotherapy, but recurrences often occur that are associated with radioresistance. Using human SQD9 laryngeal squamous cell carcinoma cancer cells as a m

Externí odkaz: https://doaj.org/article/b78719403dbc49b78722d46c6693f7ee

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Akademický článek

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap wi

Externí odkaz: https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1

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Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Autor: Irenaeus F.M. de Coo, Periyasamy Govindaraj, Bindu Parayil Sankaran, Hubert J.M. Smeets, Mariëlle T Kievit, Alphons P. M. Stassen, Arun B Taly, Mike Gerards, Le Guo, Narayanappa Gayathri, Debby M.E.I. Hellebrekers

Publikováno v: Neuromuscular Disorders, 31(9), 859-864. Elsevier Science

Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located compl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357f91dc2cead553b9f9f799706e0b72
https://doi.org/10.1016/j.nmd.2021.06.014

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Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier

Autor: M. T. Lott, Xiaowu Gai, Jeremy Leipzig, Marni J. Falk, Daniel Navarro-Gomez, Alphons P. M. Stassen, Janey L. Wiggs, Mannis van Oven, Lishuang Shen, Douglas C. Wallace

Publikováno v: Bioinformatics, 31(8), 1310-1312. Oxford University Press

Motivation: All current mitochondrial haplogroup classification tools require variants to be detected from an alignment with the reference sequence and to be properly named according to the canonical nomenclature standards for describing mitochondria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d449ace95961cfdac85e408fb1013ef
https://pure.eur.nl/en/publications/9f7ddbab-c084-4914-8bcb-fdf6ee21955d

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Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number

Autor: Rick Kamps, Auke B C Otten, Mike Gerards, Iris B W Boesten, Marc Muller, Sabina J. V. Vanherle, Richard G J Dohmen, Jo Vanoevelen, Alphons P. M. Stassen, Adriana J Timmer, Michiel E. Adriaens, Hubert J.M. Smeets

Publikováno v: Genetics, 204(4), 1423-1431. Genetics Society of America

Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ∼25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next-generation sequencing to detect point mutations directly in the mtDNA of 3–15 indi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b808605096b289670122b14da8d69a
https://pubmed.ncbi.nlm.nih.gov/27770035

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Susceptibility loci affecting ERBB2/neu-induced mammary tumorigenesis in mice

Autor: Yuxun Zhou, Alphons P. M. Stassen, Ashley J. Dittmar, Lei Quan, Peter Demant, Alan D. Hutson

Publikováno v: Genes, Chromosomes and Cancer. 51:631-643

Twenty percent of breast cancers exhibit amplification or overexpression of ERBB2/neu and a poor prognosis. As the susceptibility genes controlling ERBB2 tumorgenesis are unknown, in a genetic mapping project we crossed transgenic mice expressing the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2723bc20a1b94a8496b28ed7dd83c447
https://doi.org/10.1002/gcc.21949

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Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

Autor: Hubert J.M. Smeets, G. Van Camp, B.J.C. van den Bosch, A.M. Voets, Angela Pyle, Alexandra T.M. Hendrickx, Alphons P. M. Stassen, Patrick F. Chinnery, Debby M.E.I. Hellebrekers, E. Van Eyken, L. Van Laer, Simon Baudouin

Publikováno v: Mitochondrion
Mitochondrion, 11(6), 964-972. ELSEVIER SCI LTD

The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA variation was characterized in 730 subjects and compared with known pathogenic sites. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bc27a5a5d87a8d2e1610ff13bb1c9a
https://doi.org/10.1016/j.mito.2011.09.003

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Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population

Autor: G. Van Camp, Alphons P. M. Stassen, A.M. Voets, Hubert J.M. Smeets, Erik Fransen, Alexandra T.M. Hendrickx, L. Van Laer, P. Van de Heyning, E. Van Eyken, Sarah Bonneux, Mike Gerards, Jeroen R. Huyghe

Publikováno v: Mitochondrion, 11(5), 729-734. ELSEVIER SCI LTD
Mitochondrion

Mitochondrial DNA (mtDNA) mutations have been implicated in various age-related diseases. To further clarify the role of mtDNA variants in age-related hearing impairment (ARHI), we determined the DNA sequence of the entire mitochondrial genome of 400

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::665f62140fd46b065a88b9845e9b43c9
https://doi.org/10.1016/j.mito.2011.05.008

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