Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Angela Bahr"'
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Akademický článek
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
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2
Akademický článek
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
Autor: Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann
Publikováno v: Journal of Lipid Research, Vol 64, Iss 12, Pp 100464- (2023)
Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and function. Defects in the sphingolipid metabolism are typically associated with nervous system disorders. The C4-d
Externí odkaz: https://doaj.org/article/9f984328b0924ca1beb28331a03f23f9
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3
Akademický článek
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
Autor: Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch
Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern
Externí odkaz: https://doaj.org/article/320147a5a90d41e0b319014749a3c315
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5
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Autor: Newell Belnap, Bert B.A. de Vries, Austin Larson, Rolph Pfundt, Marijke R. Wevers, Valérie Benoit, Markus Zweier, Pascal Joset, Anita Rauch, Angela Bahr, Jeroen Mourmans, Patricia G Wheeler, Or Gozani, Marisa V. Andrews, Monica H. Wojcik, Didier Lacombe, Sarah Grotto, Marwan Shinawi, Lot Snijders Blok, Conny M. A. van Ravenswaaij-Arts, Keri Ramsey, Deepanwita Sengupta, Mariarosaria Lang-Muritano, Isabelle Maystadt, Katharina Steindl, Paolo Zanoni, Antonio Vitobello, Geoffroy Delplancq, Katrin Õunap, Tania Attié-Bitach, Heinrich Sticht, Giulia Petrilli, Laurence Faivre, Vassilis Tsatsaris
Publikováno v: Genetics in Medicine
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483
Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly under
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544aa9be8e9d682d4d34739e4e2b6576
https://doi.org/10.1038/s41436-021-01158-1
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6
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
Autor: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
Publikováno v: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy ha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7
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7
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia
Autor: Amit Tiwari, Wolfgang Berger, Christina Gerth-Kahlert, Luzy Baehr, Raimund Kottke, David Grubich Atac, Angela Bahr, Silke Feil, Samuel Koller, James V M Hanson, István Magyar
Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being a rare disease, ONH is the most common optic disc anomaly in ophthalmological practice. So far, mutations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ee447333be16002cf7219cee9e6ee5
https://www.zora.uzh.ch/id/eprint/177720/
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8
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes
Autor: Christina Gerth-Kahlert, Wolfgang Berger, Silke Feil, Marc Töteberg-Harms, Francoise Roulez, Elena Lang, Luzy Bähr, Katharina Steindl, David Grubich Atac, Samuel Koller, Angela Bahr
Publikováno v: Translational Vision Science & Technology
Translational Vision Science & Technology, 9 (7)
Purpose: The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population. Methods: Whole-exome sequencing and copy number variation (CNV) analysis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e338e1f60802ac60264cd8ab6c5b2352
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9
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Autor: Dirk Schubert, Pankaj B. Agrawal, Diante E Stremmelaar, Christian Gilissen, Koen L.I. van Gassen, Kirsty McWalter, Margot R.F. Reijnders, Rolph Pfundt, Alicia Casey, Jamie M Kramer, Tjitske Kleefstra, Olaf Bodamer, Eva Maria Christina Schwaibold, Annick Raas-Rothschild, Paulien A Terhal, Margje Sinnema, Nicholas Raun, Angela Bahr, Casie A. Genetti, Joost Kummeling, Trevor L Hoffman, James W. Wheless, Megan T. Cho, Martina Ruiterkamp-Versteeg, Velibor Tasic, Jasper J. van der Smagt, Katharina Steindl, Marleen Simon, Isabelle Thiffault, Pascal Joset, Elmar Keller, Marga Schepens, Marjolein H. Willemsen, Korbinian M. Riedhammer, David A. Koolen, Martin R. Higgs, Julia Hoefele, Nina Powell-Hamilton, Anita Rauch, Deniz Top, Dihong Zhou, Kendra Engleman, Calvin C O C O Man
Publikováno v: Molecular Psychiatry, 26(6), 2013-2024. Nature Publishing Group
Molecular Psychiatry, 26, 6, pp. 2013-2024
Molecular Psychiatry, 26, 2013-2024
Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f241beaeed4a1d131576c448fdbcf8bc
https://pubmed.ncbi.nlm.nih.gov/32346159
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10
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis
Autor: Shuning Li, Christina Gerth-Kahlert, Tom Wright, James V M Hanson, Heather MacDonald, Amit Tiwari, Angela Bahr, Ajoy Vincent, Anupreet Tumber, Frans P.M. Cremers, Luzy Bähr, Anneke I. den Hollander, Jason T. Maynes, Carol A. Westall, Wolfgang Berger, Erika Tavares, Judith Ng, Elise Héon
Publikováno v: Invest Ophthalmol Vis Sci
Investigative Ophthalmology and Visual Science, 57, 6, pp. 2637-46
Investigative Ophthalmology and Visual Science, 57, 2637-46
Contains fulltext : 168325.pdf (Publisher’s version ) (Open Access) PURPOSE: To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS: A female sibship with FFR was identified (Family-A; 17 and 16 years, res
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e43a7bd3ea56bb5cf64663923a089f
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