Results 231 to 240 of about 159,772 (339)

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.

Middle East Afr J Ophthalmol, 2022
Badawi AH, Magliyah MS, Schatz P, Al-Shehri A, Alabdullah AA.   +4 more
europepmc   +1 more source

HER2 Splice Site Mutation c.1899-1G>A as the Potential Acquired Resistance to Trastuzumab in a Patient with HER2-Positive Gastric Adenocarcinoma. [PDF]

Oncologist, 2021
Jiao XD, Liu K, Wu Y, Zhou XC, Qin BD, Ling Y, Liu J, He X, Du H, Xiang J, Zang YS.   +10 more
europepmc   +1 more source

A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis

, 2017
Dan Wang, Shengyun Liang, Zhao Zhang, Guoru Zhao, Yuan Hu, Shengran Liang, Xipeng Zhang, Santasree Banerjee   +7 more
openalex   +2 more sources

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP [PDF]

, 2005
Emilia Bellone
openalex   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications [PDF]

, 2018
Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling, Wen‐Bin Zou, Emmanuelle Masson, Yann Fichou, Loann Raud, Marlène Le Tertre, Shun‐Jiang Deng, Isabelle Berlivet, Chandran Ka, Matthew Mort, Matthew Hayden, Gérald Le Gac, D.N. Cooper, Zhao‐Shen Li, Claude Férec, Zhuan Liao, Jian‐Min Chen   +18 more
openalex   +1 more source

Tracheal small cell carcinoma with RB1 Splice site mutation treated by chemoradiotherapy: A case report

, 2023
S. Sakamoto, Masahide Takeda, Yuka Izumiya, Yūji Okuda, Mariko Asano, Masaaki Sano, Kazuhiro Sato, Katsutoshi Nakayama   +7 more
openalex   +1 more source

Targeting DAP5 Disrupts Alternate Mode of Translational Initiation in Tregs and Potentiates Antitumor Immunity

Advanced Science, EarlyView.
Regulatory T cells (Tregs) suppress antitumor immunity. This study identifies that the translation scaffold DAP5/eIF4G2 is upregulated in tumor‐infiltrating Tregs (ti‐Tregs). DAP5 mediates an alternate translation mode to sustain CD25 and MCL‐1 expression, which is critical for ti‐Treg stability and survival in the tumor microenvironment.
Xiaojiang Lai, Guihong Pan, Xixi Feng, Jun Zhang, Yunxia Li, Shanmeizi Zhao, Zhenming Lin, Yun Feng, Wei Bao, Hongyan Yang, Chengmei Xie, Chen Huang, Jun Wang   +12 more
wiley   +1 more source

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies. [PDF]

Appl Clin Genet, 2020
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R.   +9 more
europepmc   +1 more source

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein. [PDF]

Int Ophthalmol, 2021
Zhang F, Zhang L, He L, Cao M, Yang Y, Duan X, Shi J, Liu K.   +7 more
europepmc   +1 more source