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Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

Félix-Antoine Bérubé-SimardLaboratoire de génétique moléculaire du développement, Département des sciences biologiques, Université du Québec à Montréal (UQAM), Montréal, QC, Canada;Centre d’Excellence en Recherche sur les Maladies Orphelines – Fondation Courtois (CERMO-FC), Université du Québec à Montréal (UQAM), Montréal, QC, CanadaView further author information

Nicolas PilonLaboratoire de génétique moléculaire du développement, Département des sciences biologiques, Université du Québec à Montréal (UQAM), Montréal, QC, Canada;Centre d’Excellence en Recherche sur les Maladies Orphelines – Fondation Courtois (CERMO-FC), Université du Québec à Montréal (UQAM), Montréal, QC, Canada;Département de pédiatrie, Université de Montréal, Montréal, QC, CanadaCorrespondence[email protected]

http://orcid.org/0000-0003-3641-0776 View further author information

Pages 21-28 | Received 30 Jul 2018, Accepted 29 Aug 2018, Published online: 20 Sep 2018

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https://doi.org/10.1080/21541264.2018.1521213
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Sephora Sallis, Félix-Antoine Bérubé-Simard, Benoit Grondin, Elizabeth Leduc, Fatiha Azouz, Catherine Bélanger & Nicolas Pilon. (2023) The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import. Life Science Alliance 6:8, pages e202302133.
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Martin Lewis, Caroline D. Robson & Felice D‘Arco. (2023) Syndromic Hearing Loss in Children. Neuroimaging Clinics of North America.
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Refika SİRMA DOKUZBOY, Fatma Nur SARI, Esra Sukran CAKAR, Şehribanu IŞIK, Aybüke YAZICI & Evrim ALYAMAC DİZDAR. (2023) A Fatal Neonatal Case of CHARGE Syndrome and Mini-Review of the LiteratureFatal Seyirli Bir Neonatal CHARGE Sendromu Olgusu ve Kısa Literatür Taraması. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi.
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Martin A. Lewis, Amy Juliano, Caroline Robson, Emma Clement, Robert Nash, Kaukab Rajput & Felice D’Arco. (2023) The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear. Neuroradiology 65:4, pages 819-834.
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Tess A. Leathers & Crystal D. Rogers. (2022) Time to go: neural crest cell epithelial-to-mesenchymal transition. Development 149:15.
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Catherine Bélanger, Tatiana Cardinal, Elizabeth Leduc, Robert S. Viger & Nicolas Pilon. (2022) CHARGE syndrome‐associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms. The FASEB Journal 36:3.
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Saddam Hussain, Anindita Dutta & Rohini Muthuswami. 2022. Post-Transcriptional Gene Regulation in Human Disease. Post-Transcriptional Gene Regulation in Human Disease 69 88 .

Nicolas Pilon. (2021) Treatment and Prevention of Neurocristopathies. Trends in Molecular Medicine 27:5, pages 451-468.
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Athanasia Warnecke & Anja Giesemann. (2021) Embryologie, Fehlbildungen und seltene Erkrankungen der Cochlea. Laryngo-Rhino-Otologie 100:S 01, pages S1-S43.
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Jochen Weigele & Brenda L. Bohnsack. (2020) Genetics Underlying the Interactions between Neural Crest Cells and Eye Development. Journal of Developmental Biology 8:4, pages 26.
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María Amparo Acosta-Aragón, Stephany Arias-Linthon & Juan Camilo Tobar-Solarte. (2020) Síndrome CHARGE: reporte de caso. Medicina y Laboratorio 25:1, pages 441-447.
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Joan E. Hooper, Kenneth L. Jones, Francis J. Smith, Trevor Williams & Hong Li. (2020) An Alternative Splicing Program for Mouse Craniofacial Development. Frontiers in Physiology 11.
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Marie‐Claude Beauchamp, Sabrina Shameen Alam, Shruti Kumar & Loydie Anne Jerome‐Majewska. (2020) Spliceosomopathies and neurocristopathies: Two sides of the same coin?. Developmental Dynamics 249:8, pages 924-945.
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Joshua K. Meisner & Donna M. Martin. (2019) Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:1, pages 81-89.
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Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

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Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

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