Results 171 to 180 of about 159,772 (339)

CircTspan3 Promotes Cartilage Development Through ANNEXIN A2‐Mediated Ferroptosis and Apoptosis Inhibition and Exosome‐Mediated Paracrine Signaling

Advanced Science, EarlyView.
This study reveals that XBP1s drives production of circTspan3, a circular RNA that strengthens cartilage by boosting anabolic activity and limiting cell death. Phosphorylated ANXA2 directs circTspan3 into exosomes, enabling paracrine repair. Exosomal circTspan3 expands growth‐plate cartilage and promotes in vivo regeneration, highlighting its promise ...
Yiming Pan, Fengmei Zhang, Jiayan Zhong, Qian Gong, Nana Geng, Biao Kuang, Qiumei Lan, Miao Yi, Qiqi Zeng, Cheng Chen, Mengtian Fan, Chunliang Zhao, Deping Zeng, Yu Du, Mao Nie, Zhibiao Wang, Fengjin Guo   +16 more
wiley   +1 more source

Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation

Molecular Genetics and Metabolism Reports
Aim: To investigate the characteristics of 4 Chinese patients with Bartter syndrome type 3 (BS Type 3). Methods: The clinical data, genetic analysis, and outcome of four cases with Bartter syndrome type 3 were retrospectively summarised.
Yurong Piao, Congli Chen, Di Wu, Min Liu, Wenjing Li, Jiahui Chen, Yanmei Sang   +6 more
doaj   +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

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

, 2009
A. Eliot Shearer, Michael S. Hildebrand, Catherine Bromhead, Kimia Kahrizi, Jennifer Webster, Batool Azadeh, William J. Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard J. Smith, Melanie Bahlo   +12 more
openalex   +1 more source

A novel splice-site mutation in RHD gene associated with RhD negative phenotype [PDF]

, 2017
Maria Antonietta Villa, Nicoletta Revelli, Cinzia Paccapelo, Francesca Truglio, Araitz Molano, M.E. López‐Fernández   +5 more
openalex   +1 more source

Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations

Acta Dermato Venereologica, 2014
Dimitra, Kiritsi, Laura, Huilaja, Claus-Werner, Franzke, Nina, Kokkonen, Chiara, Pazzagli, Agnes, Schwieger-Briel, Markku, Larmas, Leena, Bruckner-Tuderman, Cristina, Has, Kaisa, Tasanen   +9 more
openaire   +3 more sources

Autopolyploidization‐Induced Chromatin Remodeling Regulates Leaf Size Variation in Brassica rapa

Advanced Science, EarlyView.
This study demonstrates that monoploid, diploid, and autotetraploid Brassica rapa lines derived from the same genome exhibit distinct leaf morphology. Ploidy changes remodel chromatin accessibility and histone modifications to regulate gene expression, while key transcription factors BrGRF13 and BrARF11 control leaf size and polarity, driving ...
Haoyuan Dong, Yanhong Liu, Yuanming Liu, Shuxin Xuan, Huanhuan Chen, Lai Wei, Guibao Zhang, Hongcui Pei, Zilong Dai, Yanhua Wang, Jinzhu Qiao, Shuangxia Luo, Xueping Chen, Yiguo Hong, Jianjun Zhao, Shuxing Shen, Zefu Lu, Aixia Gu   +17 more
wiley   +1 more source

Exceptional Response to Bromodomain and Extraterminal Domain Inhibitor Therapy With BMS-986158 in BRD4-NUTM1 NUT Carcinoma Harboring a BRD4 Splice Site Mutation. [PDF]

JCO Precis Oncol, 2023
Cheng ML, Huang Y, Luong N, LoPiccolo J, Nishino M, Sholl LM, Chirieac LR, Santucci AD, Rabin MS, Jänne PA, Coker S, Diamond JR, Hilton J, Shapiro GI, French CA.   +14 more
europepmc   +1 more source

Decision letter for "Novel <i>SBF1</i> splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"

, 2018

openalex   +1 more source

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