Results 141 to 150 of about 50,370 (253)

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report. [PDF]

Front Genet, 2023
Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M.   +4 more
europepmc   +1 more source

Long non‐coding RNAs at the crossroads of inflammation, cancer and angiogenesis: Molecular mechanisms and their potential as therapeutic targets

British Journal of Pharmacology, EarlyView.
Long non‐coding RNAs (lncRNAs), a broad class of non‐protein‐coding RNAs, are characterized as new regulators of gene expression at the epigenetic, transcriptional, and post‐transcriptional level. Thus, lncRNAs are involved in the regulation of physiological processes and the development of human diseases and cancer by modulating proinflammatory ...
Charlie Leboff, Pamela Calle‐Mendoza, Maria Hatziapostolou, Christos Polytarchou   +3 more
wiley   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]

Mol Genet Genomic Med
Ma Q, Xu C, Xu X, Xiang Y.
europepmc   +1 more source

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. [PDF]

Clin Genet, 2023
Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM.   +14 more
europepmc   +1 more source

circMAN1A2 as an Isoform‐Resolved Circular RNA Hub in Cancer

Cancer Science, EarlyView.
circMAN1A2 as an isoform‐resolved circular RNA hub in cancer. circMAN1A2 is generated by back‐splicing of MAN1A2 pre‐mRNA, with alternative circularization producing multiple isoforms, including the predominant circMAN1A2(2–5). Its mechanistic interfaces include miRNA‐associated regulation, RBP binding/proteostasis control, BSJ‐mediated RNA–RNA pairing,
Hanyu Shang, Hui Wang, Yonghang Xu, Lingyun Geng, Yanqing Wang   +4 more
wiley   +1 more source

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome. [PDF]

Haematologica
Kanezaki R, Toki T, Okuse R, Kobayashi A, Sato M, Kimura S, Kudo K, Sato T, Tanaka T, Yoshida K, Kawai Y, Tokunaga K, Takita J, Ogawa S, Terui K, Ito E.   +15 more
europepmc   +1 more source

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. [PDF]

EMBO Mol Med, 2023
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B.   +20 more
europepmc   +1 more source

SERPINE1 Alternative Polyadenylation Influences Gastric Cancer Prognosis via N6‐Methyladenosine Modification

Cancer Science, EarlyView.
Multi‐omics integration of the transcriptomic APA landscape and m6A modifications identifies key prognostic genes. Their biological functions and molecular mechanisms in promoting tumor progression are comprehensively validated through in vitro assays. ABSTRACT Alternative polyadenylation (APA) and N6‐methyladenosine (m6A) methylation are critical post‐
Zhuoyi Wu, Ruyun Xu, Ju Fang, Bing Liu, Cao Zhang, Shangxin Zhang, Jing Ni   +6 more
wiley   +1 more source

Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDT. [PDF]

Front Genet
Lyu Y, Xu W, Xu B, Tang X, Xiao M, Lan X, Yang Y, Song X, Wu S.   +8 more
europepmc   +1 more source

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss. [PDF]

Mol Genet Genomic Med, 2023
Yang Z, Huang M, Wei X, Sun J, Zhang F.
europepmc   +1 more source