Results 91 to 100 of about 880,486 (157)

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

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36.
Canson, D., Elena Bueno-Martínez, Miguel de la Hoya, Eladio A. Velasco-Sampedro, Spurdle, Amanda B., Llinares-Burguet, Inés, Inés Llinares-Burguet, Fortuno, C., Bueno-Martínez, Elena, Velasco, Eladio, Sanoguera-Miralles, Lara, Daffodil M. Canson, Cristina Fortuno, Amanda B. Spurdle, Lara Sanoguera-Miralles, Hoya, Miguel de la   +15 more
core   +1 more source

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
doaj   +1 more source

Mis-splicing and breast cancer: systematic analysis of splicing variants of BRCA2 exons 2-9 by minigene assays

, 2019
Paper minigene BRCA2 exons 2-9"Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays"Abstract Splicing disruption is a common mechanism of gene inactivation associated with germline variants of ...
Eugenia Fraile-Bethencourt (3860176), Eladio Andrés Velasco (3369893)   +1 more
core   +1 more source

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +1 more source

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Minigene splicing assay of synonymous substitutions.

, 2012
Effect of synonymous BRCA1 substitutions on splicing products full-length, D(11q) and D(11). RT-PCR products from transfection experiments using minigenes carrying codon substitution are shown.
Michela Raponi (164344), Andrew G. L. Douglas (164348), Diana Baralle (164355), Claudia Tammaro (164350), David I. Wilson (164352)   +4 more
core   +1 more source

Dual luciferase splicing reporter assay (DLR assay) to identify splicing modulators.

, 2018
(a) Minigene containing titin PEVK exons 4–13. Boxes indicate exons, blue lines mature transcripts generated with and without RBM20. (b) PCR products of alternative transcripts produced from the PEVK minigene by RBM20.
Jens-Peter von Kries (5368169), Martin Liss (5368172), Michael H. Radke (5368175), Martin Neuenschwander (680771), Michael Gotthardt (755019), Jamina Eckhard (370592), Vita Dauksaite (5368178)   +6 more
core   +1 more source

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay

: Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases.
Zhang, Ran, Wang, Zhi, Bottillo, Irene, Sun, Yan, Shao, Leping, Qiao, Dan, Shi, Xiaomeng, Li, Changying, Zhang, Bingying, Zhang, Yiyin, Xu, Ning, Liu, Xuyan, Zhang, Yan, Pan, Fengjiao   +13 more
core   +1 more source

Minigene splicing assay of patients synonymous substitutions.

, 2012
Effect of synonymous BRCA1 substitutions on splicing products full-length, D(11q) and D(11). RT-PCR products from transfection experiments using mutated minigenes are shown.
Michela Raponi (164344), Andrew G. L. Douglas (164348), Diana Baralle (164355), Claudia Tammaro (164350), David I. Wilson (164352)   +4 more
core   +1 more source