pTBNde(min) Citations (5)

Originally described in: New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE Hum Mol Genet. 2003 May 15. 12(10):1111-20. PubMed Journal

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Articles Citing pTBNde(min)

Articles
Far Upstream Element-Binding Protein 1 Regulates LSD1 Alternative Splicing to Promote Terminal Differentiation of Neural Progenitors. Hwang I, Cao D, Na Y, Kim DY, Zhang T, Yao J, Oh H, Hu J, Zheng H, Yao Y, Paik J. Stem Cell Reports. 2018 Apr 10;10(4):1208-1221. doi: 10.1016/j.stemcr.2018.02.013. Epub 2018 Mar 29. PubMed
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. Fujiwara T, Takeda N, Hara H, Morita H, Kishihara J, Inuzuka R, Yagi H, Maemura S, Toko H, Harada M, Ikeda Y, Kumagai H, Nomura S, Takimoto E, Akazawa H, Ako J, Komuro I. Eur J Hum Genet. 2018 Aug;26(8):1151-1158. doi: 10.1038/s41431-018-0127-1. Epub 2018 Apr 30. PubMed
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy. Balestra D, Giorgio D, Bizzotto M, Fazzari M, Ben Zeev B, Pinotti M, Landsberger N, Frasca A. Int J Mol Sci. 2019 Aug 24;20(17). pii: ijms20174130. doi: 10.3390/ijms20174130. PubMed
Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis. Alio Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yebana P, Angelica Henriquez-Recine M, Boto-de-Los-Bueis A, Alio JL, Aldave AJ. Am J Ophthalmol. 2020 Apr;212:88-97. doi: 10.1016/j.ajo.2019.11.024. Epub 2019 Nov 27. PubMed
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Bonet-Fernandez JM, Aroca-Aguilar JD, Corton M, Ramirez AI, Alexandre-Moreno S, Garcia-Anton MT, Salazar JJ, Ferre-Fernandez JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Mendez-Hernandez CD, Morales-Fernandez L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, Garcia-Feijoo J, Escribano J. Hum Genet. 2020 Apr 9. pii: 10.1007/s00439-020-02164-0. doi: 10.1007/s00439-020-02164-0. PubMed

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