Results 191 to 200 of about 159,772 (339)

Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization [PDF]

, 2006
Igor Vořechovský
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report. [PDF]

Biomed Rep, 2022
Bogomilova Kamburova Z, Lubenova Popovska S, Stefanova Kovacheva K, Todorov Petrov K, Enkova Nikolova S.   +4 more
europepmc   +1 more source

Mutation screening of CHD5 in melanoma-prone families linked to 1p36 revealed no deleterious coding or splice site changes [PDF]

, 2008
David Ng, Xiaohong R. Yang, Margaret A. Tucker, Alisa M. Goldstein   +3 more
openalex   +1 more source

DNMT2‐m5C‐ACLY Axis Promotes Lenvatinib Resistance in Hepatocellular Carcinoma Through Histone Acetylation‐Mediated Notch Pathway

Advanced Science, EarlyView.
Lenvatinib resistance poses a major challenge in advanced hepatocellular carcinoma (HCC). This study reveals that DNMT2 upregulation is a key driver, which stabilizes ACLY mRNA via m5C modification and activates the Notch signaling pathway. Crucially, combining ACLY inhibitors with lenvatinib overcomes resistance and suppresses tumors, offering a ...
Shiguang Yang, Jie Li, Shengwei Mao, Xuhui Zhao, Douwaner Liu, Jiafeng Chen, Jialu Fu, Yichao Bu, Xiaoling Wu, Shaoqing Liu, Qifeng Yu, Qiongzhu Dong, Zheng Tang, Yuan Fang, Yinghong Shi   +14 more
wiley   +1 more source

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting. [PDF]

J Clin Immunol, 2022
Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, Girschick H, Meffre E, Morbach H.   +8 more
europepmc   +1 more source

Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1 [PDF]

, 2000
Olivier Chabre, Stéphanie Portrat-Doyen, Philippe Chaffanjon, J Vivier, Panagiotis Liakos, F Labat-Moleur, E.M. Chambaz, Yves Morel, G. Defaye   +8 more
openalex   +1 more source

Splice-Site Mutation [PDF]

, 2019
openaire   +1 more source

Endothelial Cell‐Specific Molecule‐1 (ESM1): An Endogenous Anticoagulant and Protective Factor in Venous Thrombosis

Advanced Science, EarlyView.
This study identifies ESM1 as an endogenous anticoagulant that modulates venous thrombosis. It shows that ESM1 deficiency triggers vascular occlusion in zebrafish and mice, whereas its restoration or overexpression prolongs clot‐formation time. Mechanistic analyses reveal that ESM1 activates HCII through its dermatan‐sulfate chain, uncovering a ...
Changsheng Chen, Xiaojuan Ge, Dongxu Fu, Haijun Mei, Feng Lv, Chao Yang, Jiahao Lu, Xiaozhong Shen, Bowen Li, Xiaoning Wang, Dong Liu   +10 more
wiley   +1 more source

Case Report: A Case of Hailey-Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene. [PDF]

Front Genet, 2021
Dai Y, Yu L, Wang Y, Gao M, Wang P.
europepmc   +1 more source