Results 101 to 110 of about 806,334 (155)

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay. [PDF]

Front Genet, 2022
Xin Q, Liu Q, Liu Z, Shi X, Liu X, Zhang R, Hong Y, Zhao X, Shao L.   +8 more
europepmc   +1 more source

Fischer Assay Data, Utah Geological Survey Well Number U103

, 2008
datasetThis dataset contains the results of Fischer assay analyses obtained and published by the Utah Geological Survey for well ...
Oil Shale Assay Report
core  

ASO activity is correlated with repeat number in a minigene system.

, 2014
The GCGR repeat sequence was inserted into the intron of a SOD1 minigene. A) Sequences of two- and four-repeat GCGR inserts with restrictions sites for directional cloning. B) T-REx-293 cells harboring SOD-GCGR minigene constructs containing one, two, or
Susan M. Freier (393136), Huynh-Hoa Bui (19123), Timothy A. Vickers (605766), Stanley T. Crooke (449546), Andrew Watt (644905)   +4 more
core   +1 more source

Results of the splicing minigene analyses.

, 2014
RT-PCR analysis of the literature-derived E+1 variations. The splicing affecting sequences are underlined. (A) The test set sequences. cDNA bands originating from BTK exon 10 mutated minigene are numbered as follows: 1) cryptic 3′ss utilization 31 nt ...
Emanuele Buratti (11907), Ladislav Dušek (525705), Lucie Grodecká (525702), Francisco E. Baralle (11908), Pavla Lockerová (525703), Barbora Ravčuková (525704), Tomáš Freiberger (5658001)   +6 more
core   +1 more source

Comparison of pSPL3m-M1e10 minigene data with results obtained from new ESR-dedicated bioinformatics tools.

, 2016
Top, middle and bottom panels refer to results obtained with ΔtESRseq-, ΔHZEI- and ΔΨ-based bioinformatics approaches, respectively, as described under Materials and Methods.
Pascaline Gaildrat (845442), Mohamad Hamieh (845443), Thierry Frébourg (3212682), Stéphanie Baert-Desurmont (845445), Mario Tosi (845446), Alexandra Martins (845447), Omar Soukarieh (845441), Aurélie Drouet (845444)   +7 more
core   +1 more source

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +1 more source

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. [PDF]

Sci Rep, 2021
Westin IM, Jonsson F, Österman L, Holmberg M, Burstedt M, Golovleva I.   +5 more
europepmc   +1 more source

Fischer Assay Data, Utah Geological Survey Well Number U111 (b)

, 2008
datasetThis dataset contains the results of Fischer assay analyses obtained and published by the Utah Geological Survey for well ...
Oil Shale Assay Report
core  

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

Frontiers in Medicine
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Chee Teck Koh, Chee Teck Koh, Tina Si Ting Lim, Tina Si Ting Lim, Alwin Hwai Liang Loh, Yan Fei Ng, Jia Liang Kwek, Perry Yew Weng Lau, Perry Yew Weng Lau, Hui-lin Chin, Hui-lin Chin, Jun Li Ng, Jun Li Ng, Mya Than, Mya Than, Irene Yanjia Mok, Cynthia Ciwei Lim, Kay Yuan Chong, Jason Chon Jun Choo, Hui Kim Yap, Hui Kim Yap, Kar Hui Ng, Kar Hui Ng, Yaochun Zhang, Yaochun Zhang   +24 more
doaj   +1 more source

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

BackgroundAutosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life.
Xiaxi Huang, Huiqing Ding, Mei Chen, Shengmin Zhang, Yubo Shi, Linyan Zhu, Lianxiao Zhang, Rui Zhou   +7 more
core   +1 more source