Results 121 to 130 of about 91,518 (258)

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

Endothelial miR‐15a/16‐1 Regulation of SYNE1 Mediates Structural and Functional Recovery after Traumatic Brain Injury

Advanced Science, EarlyView.
Endothelial miR‐15a/16‐1 deletion promotes long‐term recovery after traumatic brain injury by restoring SYNE1 expression. Enhanced endothelial SYNE1 preserves vascular integrity, protects white and gray matter, and improves neurological function. The endothelial miR‐15a/16‐1–SYNE1 axis emerges as a key regulator of neurovascular repair and a potential ...
Shun Li, Na Qiu, Chao Zhou, Andrew Ni, Ping Sun, Jia‐Jun Liu, Xin‐Lei Huang, Tian‐Qing Xiong, Yu‐Chi Zhang, Hai‐Zhou Liu, Xiao‐Tao Xu, Rui Wang, Shi‐Qing Zhang, Yu‐Xin Zhang, Silvia Liu, C. Edward Dixon, Jun Chen, Ke‐Jie Yin   +17 more
wiley   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Molecular Vision, 2019
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef   +14 more
doaj  

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report. [PDF]

Hum Genome Var, 2023
Mashayekhi P, Omrani MD, Tonekaboni SH, Dehghanifard A.   +3 more
europepmc   +1 more source

WTAP Transcriptional Suppression by KLF9 Drives Osteoclastogenesis via M6A‐Mediated Regulation of CSF1R Signaling in Estrogen‐Deficient Osteoporosis

Advanced Science, EarlyView.
Scheme of the KLF9/WTAP/YTHDF2/m6A/CSF1R regulatory axis in osteoclastogenesis and estrogen‐deficient osteoporosis. WTAP‐mediated m6A modification of Csf1r mRNA governs osteoclastogenesis via a YTHDF2‐mediated pathway. Pathological upregulation of KLF9 drives Wtap transcription, leading to increased m6A deposition on the 3’‐UTR of Csf1r mRNA.
Chen Shen, Xin Liu, Gaoran Ge, Li Xu, Ziyu Zhang, Chang Lv, Hao Xu, Wenhao Li, Yi Qin, Qifeng Sheng, Qihan Wang, Hongxia Li, Jun Zhou, Huilin Yang, Dechun Geng   +14 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

Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen, Yangyi Wang, Tingting Li, Changqing Guo, Zhe Xie, Zhixian Zhang, Xinghua Han, Wei Wang, Jian Wang, Xiaopeng Ma, Yuanzeng Min   +10 more
wiley   +1 more source

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta. [PDF]

Bone Rep, 2021
El-Gazzar A, Mayr JA, Voraberger B, Brugger K, Blouin S, Tischlinger K, Duba HC, Prokisch H, Fratzl-Zelman N, Högler W.   +9 more
europepmc   +1 more source

Compact 9dBEs Enable Efficient and Precise Genome Editing in Mammalian Cells and In Vivo

Advanced Science, EarlyView.
As a compact type II‐D system, the Cas9d‐based platform holds great potential for in vivo applications. Through rational engineering, its derived base editors (9dBEs) enable efficient disease modeling while facilitating single‐vector AAV delivery for in vivo genome editing. These miniature tools offer a robust strategy for basic research and biomedical
Qingquan Xiao, Zhijin Tian, Luqi Weng, Kun Xu, Dingyi Han, Zhaowei Wu, Junnan Li, Shangpu Li, Qijing Zhang, Xiaohui Zhao, Guoling Li, Yinghui Wei, Zhen Gu   +12 more
wiley   +1 more source