Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome

Nucleotide excision repair (NER) disorders are genetic conditions caused by defects in the pathway responsible for repairing DNA lesions due to UV radiation. These defects lead to a variety of heterogeneous disorders, including Cockayne syndrome (CS) and trichothiodystrophy (TTD). In this study, we...

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الحاوية / القاعدة:	Frontiers in Neuroscience
المؤلفون الرئيسيون:	Nicolas Le May, Jérémie Courraud, Imène Boujelbène, Cathy Obringer, Tomoo Ogi, Alan R. Lehmann, Fanny Laffargue, Daphné Lehalle, Seiji Mizuno, Shehla Mohammed, Clothilde Ormières, Marjolaine Willems, Vincent Laugel, Nadège Calmels
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Frontiers Media S.A. 2025-03-01
الموضوعات:	DYRK1A gene nucleotide excision repair (NER) Cockayne syndrome trichothiodystrophy ERCC6/CSB gene ERCC8/CSA gene
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fnins.2025.1554093/full