Results 221 to 230 of about 83,578 (286)

WTAP Mediated m6A Modification Stabilizes PDIA3P1 and Promotes Tumor Progression Driven by Histone Lactylation in Esophageal Squamous Cell Carcinoma

Advanced Science, EarlyView.
This study reveals a new mechanism by which PDIA3P1 regulates the progression of esophageal squamous cell carcinoma (ESCC). PDIA3P1 upregulates the expression of GLUT1 and HK2, promoting glycolysis and lactate production. Lactate upregulates the lactylation level of histone H4K8 and activates the transcription of target gene BMP7, ultimately ...
Tao Huang, Qi You, Jiawei Liu, Xuguang Shen, Dengjun Huang, Xinlu Tao, Zhijie He, Chengwei Wu, Xinran Xi, Shouqiang Yu, Feng Liu, Zhihao Wu, Wenjun Mao, Shaojin Zhu   +13 more
wiley   +1 more source

m6A Reader hnRNPA2B1 Modulates Late Pachytene Progression in Male Meiosis Through Post‐Transcriptional Control

Advanced Science, EarlyView.
As an m6A reader, hnRNPA2B1 predominantly regulates specific transcripts (e.g., Ep400, Rrs1) that are essential for chromosome organization and remodeling in an m6A‐dependent manner. Furthermore, it is demonstrated to interact with factors involved in mRNA processing and translation. This dual functionality is pivotal for ensuring the proper occurrence
Lisha Yin, Yuting Zhang, Bingqian Zhang, Jin Zhang, Mengneng Xiong, Nan Jiang, Jinxin Xiao, Huihui Gao, Wenjing Xiong, Xiaoli Wang, Fengli Wang, Shuiqiao Yuan   +11 more
wiley   +1 more source

Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1) Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #164 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr164.pdf

, 2000
H. Rueffert, D. Olthoff, C. Deutrich, H. Kraus, U.G. Froster   +4 more
openalex   +1 more source

A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel [PDF]

, 2003
Neil V. Whittock, Carron Sher, Isaac Gold, Vitalia Libman, Orit Reish   +4 more
openalex   +1 more source

ALKBH5‐Mediated M6A Demethylation of G3BP1 Attenuates Ferroptosis Via Cytoplasmic Retention of YBX1/p53 in Diabetic Myocardial Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
ALKBH5 promoted G3BP1 expression via m⁶A methylation at sites 142/173. G3BP1 interacts with YBX1 and p53, reducing their nuclear translocation and decreasing p53‐mediated SLC7A11 repression. This inhibites cardiomyocyte ferroptosis and mitigates myocardial damage during diabetic ischemia‐reperfusion injury.
Wenyuan Li, Wei Li, Yan Leng, Heng Xu, Zhongyuan Xia, Yao Wang   +5 more
wiley   +1 more source

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report. [PDF]

Balkan J Med Genet, 2020
Erden E, Ceylan AC, Emre S.
europepmc   +1 more source

Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome [PDF]

, 2003
Bożena Anna Marszałek-Kruk, S. Wisniewski, Piotr Wójcicki, Kazimierz Kobus, Wiesław H. Trzeciak   +4 more
openalex   +1 more source

Long Non‐Coding RNA IGFRIL Couples with PTBP1 to Destabilize IGFBP3 mRNA to Promote the IGF1R‐AKT‐mTOR Axis and Hepatocellular Carcinoma

Advanced Science, EarlyView.
The limited understanding of IGFR pathway activation hinders its clinical application in HCC. Here, IGFRIL is identified as a novel non‐coding activator of the IGF1R, which recruits PTBP1 to destabilize IGFBP3 mRNA and activates IGF1R, and proposes IGFRIL as a novel actionable target for HCC patients.
Jing Zhang, Chengming Gao, Haibei Li, Yuying Chen, Liting Yang, Qian Jin, Lan Feng, Xia Wang, Xinyi Liu, Hongxia Chen, Rong Ye, Yuanchao Xue, Huiyun Wang, Musheng Zeng, Ming Yang, Huaiqiang Ju, Chengzhi Gao, Guangming Zhou, Qi Zhang, Qian Zhang, Geng Qin, Yuanfeng Li, Yahui Wang, Aiqing Yang, Anfeng Si, Qingfeng Song, Fuchu He, Pengbo Cao, Gangqiao Zhou   +28 more
wiley   +1 more source

A novel splice-site mutation of the HNF1B gene in a family with maturity onset diabetes of the young type 5 (MODY5). [PDF]

Endocrinol Diabetes Metab Case Rep, 2020
Fujita Y, Tanaka D, Tatsuoka H, Matsubara M, Hyo T, Hamamoto Y, Komiya T, Inagaki N, Seino Y, Yamazaki Y.   +9 more
europepmc   +1 more source

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation [PDF]

, 2004
Kinga Szigeti
openalex   +1 more source