Results 121 to 130 of about 83,578 (286)

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle. [PDF]

Genet Sel Evol, 2023
Boussaha M, Boulling A, Wolgust V, Bourgeois-Brunel L, Michot P, Grohs C, Gaiani N, Grivaud PY, Leclerc H, Danchin-Burge C, Vilotte M, Rivière J, Boichard D, Gourreau JM, Capitan A.   +14 more
europepmc   +1 more source

Characterization of a Splice-Site Mutation in the Gene for the LDL Receptor Associated With an Unpredictably Severe Clinical Phenotype in English Patients With Heterozygous FH [PDF]

, 1995
Xi-Ming Sun, D. Patel, Deepak Bhatnagar, Brian L. Knight, Anne K. Soutar   +4 more
openalex   +1 more source

piR‐RCC Suppresses Renal Cell Carcinoma Progression by Facilitating YBX‐1 Cytoplasm Localization

Advanced Science, EarlyView.
PIWI‐interacting RNAs (piRNAs), a novel category of small non‐coding RNAs, have been implicated in the development of various diseases. This study explores the tumor‐suppressive mechanism of a downregulated piRNA (designated piR‐RCC) in renal cell carcinoma (RCC), and provides a delivery strategy targeting RCC tumor by constructing a cell membrane ...
Ruyue Wang, Fan Li, Yudong Lin, Zeyi Lu, Wenqin Luo, Zhehao Xu, Ziwei Zhu, Yi Lu, Xudong Mao, Yang Li, Zhinian Shen, Haohua Lu, Yining Chen, Liqun Xia, Mingchao Wang, Lifeng Ding, Gonghui Li   +16 more
wiley   +1 more source

A splice site mutation in the FvePHP gene is associated with leaf development and flowering time in woodland strawberry. [PDF]

Hortic Res, 2023
Wang B, Li W, Xu K, Lei Y, Zhao D, Li X, Zhang J, Zhang Z.   +7 more
europepmc   +1 more source

Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3' Splice Acceptor Site Within an Exon of the Human Biotinidase Gene [PDF]

, 1997
Robert J. Pomponio, Thomas Reynolds, Hanna Mandel, Osnat Admoni, Pamela Melone, Gregory A. Buck, Barry Wolf   +6 more
openalex   +1 more source

H3K36me3‐Guided m6A Modification of Oncogenic L1CAM‐AS1 Drives Macrophage Polarization and Immunotherapy Resistance in Hepatocellular Carcinoma

Advanced Science, EarlyView.
L1CAM‐AS1 is identified as a novel H3K36me3‐guided, m6A‐modified long noncoding RNA (lncRNA) in hepatocellular carcinoma (HCC) cells. L1CAM‐AS1 stabilizes RAN protein, enhances M2 macrophages‐released CCL5‐induced nuclear import of RELA, activates the NF‐κB signaling, up‐regulates CCL2 expression and secretion from HCC cells, and enhances M2 ...
Teng Wang, Linyu Han, Yanfei Huo, Long Zhang, Yizhou Huang, Nasha Zhang, Ming Yang   +6 more
wiley   +1 more source

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report. [PDF]

World J Clin Cases, 2022
Chang YY, Yu CQ, Zhu L.
europepmc   +1 more source

Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T) [PDF]

, 1999
Adriana De Siervi, Manuel Méndez, Victoria Estela Parera, Laura Sabina Varela, Alcira Batlle, María Victoria Rossetti   +5 more
openalex   +1 more source

Listerin Alleviates Alzheimer's Disease through IRE1‐mediated Decay of TLR4 mRNA

Advanced Science, EarlyView.
Alzheimer's disease (AD) progression is influenced by microglia‐mediated neuroinflammation. Here, it is demonstrated that Listerin suppresses neuroinflammatory signaling and cognitive impairment in AD models by triggering IRE1α‐mediated TLR4 mRNA decay. Adenoviral Listerin delivery reduces amyloid‐β pathology, positioning it as a new therapeutic target.
Fei Qin, Runyu Cao, Xuemei Bai, Jiahua Yuan, Wanwei Sun, Yi Zheng, Xiaopeng Qi, Wei Zhao, Bingyu Liu, Chengjiang Gao   +9 more
wiley   +1 more source

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

, 1984
Stylianos E. Antonarakis, S H Irkin, Tiffany Cheng, Alan F. Scott, Julianne P. Sexton, Stephen P. Trusko, Samuel Charache, H H Kazazian   +7 more
openalex   +1 more source