Results 171 to 180 of about 91,518 (258)

Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency. [PDF]

Clin Appl Thromb Hemost
Al-Fararjeh F, Al-Aqrabwi S, Al-Nazer F, Al-Shorman A, Al-Hyari S, Mahmoud L, Neqresh O, Abbasi L, Abuelsamen T, Awidi A.   +9 more
europepmc   +1 more source

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

FTSJ3‐Mediated 2′‐O‐Methylation of HSPA5 mRNA Stabilizes BOP1 via SUMOylation to Drive DRP1‐Dependent Mitochondrial Fission and Fatty Acid Oxidation in Lung Squamous Cell Carcinoma

Advanced Science, EarlyView.
The RNA methyltransferase FTSJ3 drives lung squamous cell carcinoma progression by catalyzing 2′‐O‐methylation of HSPA5 mRNA, which stabilizes BOP1 through SUMOylation and activates DRP1/SREBP1‐mediated mitochondrial fission and fatty acid oxidation. Targeting this axis with liposomal siRNA potently suppresses tumor growth and metastasis ABSTRACT Lung ...
Qin Hu, Jiaheng Lin, Yifei Zhu, Ying Liu, Guoren Zhou   +4 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

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

Helicobacter pylori‐Induced Persistent IGF2BP1 Activation Promotes Ferroptosis Resistance in Gastric Tumorigenesis

Advanced Science, EarlyView.
Helicobacter pylori infection induces sustained upregulation of the RNA‐binding protein IGF2BP1 in gastric epithelial cells, establishing a persistent epitranscriptomic program. IGF2BP1 stabilizes SLC7A11 mRNA in an m6A‐dependent manner to suppress ferroptosis and promote epithelial survival under oxidative stress. Pharmacological inhibition of IGF2BP1
Jing Ning, Xin Guan, Xinyu Hao, Jing Zhang, Deyao Li, Ying Xiong, Wenlin Zhang, Xiurui Han, Yanfei Lang, Meiling Zhou, Mengjie Yang, Zhi Huang, Tinghui Qu, Ming Zu, Qiao Meng, Weiwei Fu, Fengmin Lu, Jing Zhang, Xiangmei Chen, Tong Liu, Shigang Ding   +20 more
wiley   +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

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, EarlyView.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. [PDF]

J Allergy Clin Immunol, 2021
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S.   +9 more
europepmc   +1 more source

PTBP1‐Mediated Alternative Splicing of DNAJB6 Promotes Everolimus Resistance in Clear Cell Renal Cell Carcinoma via EIF4B/PKIB/AKT/mTOR Positive Feedback Loop

Advanced Science, EarlyView.
PTBP1‐mediated alternative splicing drives a pathogenic switch to the DNAJB6b isoform in everolimus‐resistant clear cell renal cell carcinoma. This splicing event programs a positive feedback loop including EIF4B/PKIB/AKT/mTOR, promoting aggressive therapy resistance.
Xiu‐wu Pan, Hong‐feng Zheng, Mu‐chen Li, Jia‐lin Zhou, Hang‐biao Zhang, Dong‐hao Lyu, Yi‐fan Tang, Tian‐yue Yang, Yi‐fan Liu, Zi‐chang Liu, Wen‐jie Ma, Yuan‐bo Zong, Jian‐gui Liu, Zi‐xuan Gong, Hao Zhang, Ke‐qin Dong, Wang Zhou, Jian‐qin Ye, Xin‐gang Cui   +18 more
wiley   +1 more source