Results 91 to 100 of about 6,757 (149)

Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot

Molecular Genetics & Genomic Medicine
Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong   +5 more
doaj   +1 more source

Protocol for designing and interpreting minigene assays to validate candidate splice altering variants

Summary Variants affecting RNA splicing are a major contributor to human disease, yet the consequences of variants outside of the canonical splice motifs are often difficult to determine. Here, we present a protocol for minigene-based evaluation of candidate splice-altering variants. The methodology described includes
Whitney Whitford, Suzanne M. Musgrave, Russell G. Snell, Jessie C. Jacobsen   +3 more
openaire   +1 more source

Identification of a Novel Splice‐Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family

Molecular Genetics & Genomic Medicine
Background The calcium voltage‐gated channel subunit alpha1 F (CACNA1F) gene‐related retinal disorders have overlapping clinical symptoms and no definitive genotype–phenotype correlation, posing a challenge for diagnosis.
Mojiang Li, Cheng Chen, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie   +5 more
doaj   +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

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

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

Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson’s disease pedigrees

Frontiers in Genetics
IntroductionWilson’s disease (hepatolenticular degeneration) is a common hereditary neurological disorder. Early diagnosis, particularly the widespread implementation of genetic testing and timely intervention, is crucial for improving the prognosis of ...
Qi Zhang, Qi Zhang, Xiaoming Xie, Hairong Li, Yulei Li, Hongyao Huang, Hongyao Huang   +6 more
doaj   +1 more source

A panel of validated minigene-based splicing assays

A panel of validated minigene-based splicing assays for 11 BC-HR genes. We will synthesize minigenes covering all exons for the selected BC-HR genes. Constructs will be transfected into human epithelial (breast cancer) cell lines. RNA will be extracted and minigene transcripts will be amplified using plasmid-specific primers and analysed by CEP and ...
openaire   +1 more source

Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]

Int J Mol Sci
Danilchenko VY, Panina EA, Zytzar MV, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

A novel splicing variant in <i>NBAS</i> identified by minigene assay causes infantile liver failure syndrome type 2. [PDF]

Front Genet
Hu A, Liang J, Liu H, Jiang J, Xie F, Zhang X, Zhou X.   +6 more
europepmc   +1 more source