Results 131 to 140 of about 4,405 (166)

Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study. [PDF]

Front Med (Lausanne)
Liu L, Du H, Wang N, Lv S, Yu C, Deng L.
europepmc   +1 more source

Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation. [PDF]

Sci Adv
Jiang R, Xing P, Xie J, Bai G, Zhang Y, Hou P, Luo H, Ma Y, Liu R, Zheng Y, Chen X, Jiang B, Huang J, Zhang Y, Shain AH, Lei M, Judson-Torres RL, Ye J, Liu Z, Zeng H.   +19 more
europepmc   +1 more source

Identification of two novel PATL2 variants and transcriptome sequencing reveals their role in oocyte maturation. [PDF]

J Ovarian Res
Yu L, Wang L, Pan B, Wang B, Dong X, Guo W, Che Q.   +6 more
europepmc   +1 more source

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers. [PDF]

Ann Hematol
Zhang L, Yang J, Li X, Liu Y, Liu C, Duan S, Zhang L, Liu W, Chang M.   +8 more
europepmc   +1 more source

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta. [PDF]

BMC Oral Health
Zhang Z, Chen Z, Huang J, Chen F, Dong Y, Gao X, Zhao H, Tian H.   +7 more
europepmc   +1 more source

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Cancers, 2021
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important. NF1 displays allelic heterogeneity, with a high proportion of variants affecting splicing, including ...
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly   +3 more sources

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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay

Journal of Human Genetics, 2022
As BRCA1/2 gene sequencing become more extensive, a large number VUS (variants of uncertain significance) emerge rapidly. Verifying the splicing effect is an effective means for VUS reclassification. The Minigene Assay platform was established and its reliability was verified in this article.
Zhouhuan, Dong, Yun, Wang, Jing, Zhang, Fengwei, Zhu, Zhiyuan, Liu, Yajun, Kang, Mingyuan, Lin, Huaiyin, Shi   +7 more
openaire   +2 more sources

Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

Journal of Cellular and Molecular Medicine, 2017
AbstractBardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes.
Sheila Castro-Sánchez, Diana Valverde
exaly   +3 more sources

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Haemophilia, 2019
BackgroundClassically, the study of splicing impact of variation located near the splice site is performed by both in silico and mRNA analysis. However, RNA sample was rarely available.ObjectiveTo characterize a panel of putative haemophilia A splicing variations.Materials and methodsTwenty‐six F8 variations identified from a cohort of 2075 haemophilia
Yohann Jourdy, Mathilde Fretigny, Christophe Nougier, Claude Négrier, Dominique Bozon, Christine Vinciguerra   +5 more
openaire   +2 more sources