Results 1 to 10 of about 64,155 (301)

Alpharetroviral Vector-mediated Gene Therapy for X-CGD: Functional Correction and Lack of Aberrant Splicing [PDF]

, 2012
Kerstin B. Kaufmann, Christian Brendel, Julia D. Suerth, Uta Mueller-Kuller, Linping Chen-Wichmann, Joachim Schwäble, Shweta Pahujani, Hana Kunkel, Axel Schambach, Christopher Baum, Manuel Grez   +10 more
openalex   +1 more source

Aberrant regulation of RNA splicing in sunflower hybrids may underlie intrinsic incompatibilities [PDF]

, 2020
Chris C. R. Smith, Loren H. Rieseberg, Brent S. Hulke, Nolan C. Kane   +3 more
openalex   +1 more source

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing. [PDF]

BMC Genomics, 2023
Kurosawa R, Iida K, Ajiro M, Awaya T, Yamada M, Kosaki K, Hagiwara M.   +6 more
europepmc   +1 more source

RNA-coupled CRISPR screens reveal ZNF207 as a regulator of LMNA aberrant splicing in progeria. [PDF]

Mol Cell
Behera AK, Kim JJ, Kordale S, Pekovic F, Damodaran AP, Kumari B, Vidak S, Dickson E, Xiao MS, Duncan G, Andresson T, Misteli T, Valkov E, Gonatopoulos-Pournatzis T.   +13 more
europepmc   +1 more source

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing. [PDF]

Hum Mol Genet, 2023
Kaltak M, Corradi Z, Collin RWJ, Swildens J, Cremers FPM.   +4 more
europepmc   +1 more source

Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia [PDF]

, 2019
Shuqian Xu, Kevin Luk, Qiuming Yao, Anne H. Shen, Jing Zeng, Yuxuan Wu, Hongyuan Luo, Christian Brendel, Luca Pinello, David H.K. Chui, Scot A. Wolfe, Daniel E. Bauer   +11 more
openalex   +1 more source

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing. [PDF]

Prenat Diagn
Klapperich A, Skopova V, Karakaya M, Velmans C, Netzer C, Strizek B, Mrazova LS, Zikanova M.   +7 more
europepmc   +1 more source

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. [PDF]

Brain, 2023
Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S, Valdmanis PN.   +5 more
europepmc   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]

Mol Genet Genomic Med
Ma Q, Xu C, Xu X, Xiang Y.
europepmc   +1 more source

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease [PDF]

, 2013
Kirupa Sathasivam, Andreas Neueder, Theresa A. Gipson, Christian Landles, Agnesska C. Benjamin, Marie K. Bondulich, Donna L. Smith, Richard L. M. Faull, Raymund A.C. Roos, David Howland, Peter J. Detloff, David E. Housman, Gillian P. Bates   +12 more
openalex   +1 more source