Results 11 to 20 of about 4,405 (166)

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

Biomedicines
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms.
Lara Emily Rosso, Giulia Pianigiani, Anna Morgan, Elisa Rubinato, Elisa Paccagnella, Stefania Lenarduzzi, Anita Wischmeijer, Beatrice Spedicati, Giorgia Girotto   +8 more
doaj   +4 more sources

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   +3 more sources

Functional Characterization of <i>HGD</i> Gene Variants by Minigene Splicing Assay. [PDF]

Int J Mol Sci
The HGD gene encodes homogentisate 1,2-dioxygenase. A deficiency of this enzyme causes alkaptonuria (AKU; OMIM 203500), a monogenic autosomal recessive metabolic disorder. The global incidence of alkaptonuria is estimated at 1 in 250,000 to 1,000,000 live births.
Nekrasov A, Shchukina E, Rimskaya B, Zakharova E.   +3 more
europepmc   +3 more sources

A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay. [PDF]

Int J Ophthalmol, 2023
AIM: To report a novel splicing mutation in the RPGR gene (encoding retinitis pigmentosa GTPase regulator) in a three-generation Chinese family with X-linked retinitis pigmentosa (XLRP). METHODS: Comprehensive ophthalmic examinations including best corrected visual acuity, fundus photography, vision field, and pattern-visual evoked potential were ...
Wang HQ, Cong PK, He T, Yu XF, Huo YN.
europepmc   +4 more sources

Novel pathogenic splicing mutation in <i>COL11A1</i> in a patient with Stickler syndrome verified by minigene splicing assay. [PDF]

Front Genet
BackgroundStickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical features because of phenotypic variability.
Zhang J, Huang Y, Deng Y, Yang X, Shi H, Yang Y, Lv T, Yan Y, He M, Liu F.   +9 more
europepmc   +3 more sources

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A [PDF]

International Journal of Molecular Sciences, 2022
Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing has only been functionally verified for ...
Reurink, J.A., Reurink, J.A., Oostrik, J., Oostrik, J., Aben, M.J., Ramos, Mariana Guimarães, van Berkel, Emma, Ołdak, M., van WIjk, E., van WIjk, E., Kremer, H., Kremer, H., Roosing, S., Cremers, F.P.M.   +13 more
openaire   +2 more sources

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoforms. [PDF]

Genome Res
BRCA1 and BRCA2 germline variant classification is vital for clinical management of families with hereditary breast and ovarian cancer. However, clinical classification of rare variants outside of the splice donor/acceptor ±1,2-dinucleotides remains challenging, particularly for variants that induce new or cryptic splice site usage ...
Canson DM, Parsons MT, Moir-Meyer G, Dumenil T, Montalban G, Lin E, McVeigh TP, Davidson AL, Bouckaert SM, Trau M, Korbie D, Spurdle AB.   +11 more
europepmc   +6 more sources

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Frontiers in Genetics, 2023
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang   +9 more
doaj   +1 more source

Minigene Assay to Evaluate CRISPR/Cas9-based Excision of Intronic Mutations that Cause Aberrant Splicing in Human Cells

Bio-Protocol, 2019
The construction of Hybrid minigenes provides a robust and simple strategy to study the effects of disease-causing mutations on mRNA splicing when biological material from patient cells is not available.
David Sanz, Patrick Harrison
doaj   +1 more source

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

Molecular Genetics & Genomic Medicine, 2020
Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity ...
Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +17 more
doaj   +1 more source