Results 141 to 150 of about 64,155 (301)

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
doaj   +1 more source

Data for figures in manuscript "Aberrant splicing prediction across human tissues"

, 2023
Nils Wagner, Muhammed Hasan Çelik
openalex   +2 more sources

Endocytic Control of Cell‐Autonomous and Non‐Cell‐Autonomous Functions of p53

Advanced Science, EarlyView.
NUMB Ex3‐containing isoforms localize to the plasma membrane, where they recruit p53 through SNX9 and direct it to multivesicular bodies and exosomes. Exported p53 is taken up by neighboring cells and activates nuclear programs, revealing an intercellular, exosome‐based pathway that might help establish a tumor‐suppressive microenvironment.
Roberta Cacciatore, Andrea Basile, Stefano Freddi, Irene Schiano Lomoriello, Carlo Ribelle Zucca, Giuseppe Ciossani, Luigi Scietti, Alessandro Cuomo, Simona Ronzoni, Simone Pelicci, Mario Faretta, Elena Zaccheroni, Giuliana Pelicci, Vittoria Matafora, Angela Bachi, Rosalind Helen Gunby, Salvatore Pece, Sara Sigismund, Letizia Lanzetti, Ivan Nicola Colaluca, Pier Paolo Di Fiore   +20 more
wiley   +1 more source

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy [PDF]

, 1994
Linda De Meırleır, Willy Lissens, Chantal Benelli, G Ponsot, Isabelle Desguerre, C. Marsac, Diana Rodriguez, Jean‐Marie Saudubray, F Poggi, Inge Liebaers   +9 more
openalex   +1 more source

Aberrant expression and regulatory network of splicing factor-SRSF3 in tumors [PDF]

, 2020
Yingying Che, Lin Fu
openalex   +1 more source

Palmitoylation‐Mediated Ubiquitination of SRPK1 Regulates Ferroptosis in High‐Fat‐Induced Erectile Dysfunction

Advanced Science, EarlyView.
Elevated exogenous palmitic acid promotes the S‐palmitoylation of SRPK1 in endothelial cells, a dynamic process governed by ZDHHC24 and APT1. This post‐translational modification strengthens the interaction between SRPK1 and the E3 ubiquitin ligase MIB1, thereby facilitating the proteasomal degradation of SRPK1.
Xiao‐Hui Tan, Ke‐Fan Li, Yi‐Ming Yuan, Man‐Cheng Xia, Fang‐Zhou Zhao, Hong‐Gang Ying, Zhuo Zhou, Peng‐Chao Gao, Guo‐Qing Xie, Xue‐Song Li, Hui Jiang, Rui‐Li Guan   +11 more
wiley   +1 more source

637: Characterization and quantification of mutation-induced aberrant CFTR mRNA splicing liability in immortalized and primary cells

, 2021
Norm Allaire, H. Valley, Andrey Sivachenko, Elizabeth Wilson, André LaPan, J Conté, John Harrington, Barbara Tabak, Hermann Bihler, Calvin U. Cotton, Martin Mense   +10 more
openalex   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

Data from Aberrant RNA Splicing Is a Primary Link between Genetic Variation and Pancreatic Cancer Risk

, 2023
Jianbo Tian, Can Chen, Meilin Rao, Ming Zhang, Zequn Lu, Yimin Cai, Pingting Ying, Bin Li, Haoxue Wang, Lu Wang, Yao Li, Jinyu Huang, Linyun Fan, Xiaomin Cai, Caibo Ning, Yanmin Li, Fuwei Zhang, Wenzhuo Wang, Yuan Jiang, Yizhuo Liu, Min Wang, Heng Li, Chaoqun Huang, Zhiyong Yang, Jiang Chang, Ying Zhu, Xiaojun Yang, Xiaoping Miao   +27 more
openalex   +1 more source

Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy

Advanced Science, EarlyView.
Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong, Yuhang Xie, Zhijie Weng, Yongzhi Wu, Longjiang Li, Bo Li   +5 more
wiley   +1 more source