Results 121 to 130 of about 30,223 (276)

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma [PDF]

, 2013
Ilyess Zemmoura, Patrick Vourc’h, Agathe Paubel, Béatrice Parfait, Joëlle Cohen, Frédéric Bilan, Alain Kitzis, C. Rousselot, Fabrice Parker, Patrick François, Christian Andrés   +10 more
openalex   +1 more source

Six‐Year Trends in Real‐World Data Use for Post‐Marketing Surveillance of New Medical Products in Japan

Clinical and Translational Science, Volume 19, Issue 2, February 2026.
ABSTRACT The Ministerial Ordinance on Good Post‐Marketing Study Practice for Drugs was amended by the Ministry of Health, Labour and Welfare (MHLW) in 2018 to clearly define post‐marketing database studies (DBS) as a measure of pharmacovigilance activities for approved medical products in Japan.
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Characterising the Transcriptomic Response to Interferon and Infection in European Domestic Ferret Respiratory Tissues Using Long‐Read RNA Sequencing

Immunology, Volume 177, Issue 2, Page 299-316, February 2026.
We utilised long‐read Nanopore sequencing to characterise the transcriptome of ferret cell lines stimulated with IFN‐α as well as nasal turbinates from ferrets infected with influenza A virus. We identified novel genes and isoforms and observed elongation of poly(A) tails in the ribosome and Coronavirus Disease‐19 pathways in response to IFN‐α ...
Rubaiyea Farrukee, Jessie J.‐Y. Chang, Jianshu Zhang, James B. Barnes, Shu Xin Zhang, Sher Maine Tan, Patrick C. Reading, Lachlan J. M. Coin   +7 more
wiley   +1 more source

hnRNPU Safeguards Oocyte Development and Female Fertility via Regulation of Alternative Splicing

The FASEB Journal, Volume 40, Issue 2, 31 January 2026.
Heterogeneous nuclear ribonucleoprotein U (hnRNPU) is essential for oocyte development and female fertility. Oocyte‐specific deletion of Hnrnpu leads to follicular arrest, impaired meiotic maturation, mitochondrial dysfunction, and infertility.
Jinmei Li, Bei Chen, Yujiao Wen, Yanqing Wu, Kuan Liu, Jingshou Chen, Shuangqi Wang, Shenglei Feng, Juan Dong   +8 more
wiley   +1 more source

Silencing Myostatin Using In Vivo Self‐Assembled siRNA Protects Against Cancer‐ and Dexamethasone‐Induced Muscle Atrophy

Advanced Healthcare Materials, Volume 15, Issue 4, 26 January 2026.
This study reports an in vivo self‐assembled siRNA strategy that enables the liver to generate small extracellular vesicles (sEVs) tagged with a muscle‐targeting peptide (MSP) and naturally loaded with myostatin (MSTN)‐siRNA. These MSP‐tagged sEVs are systemically delivered to skeletal muscle, efficiently silence MSTN, promote muscle hypertrophy, and ...
Xin Yin, Azhar Anwar, Jiehao Chen, Qinghao Sun, Likun Zhou, Jie Tang, Jingwei Guo, Linbo Yan, Yongci Chen, Feng Yin, Chen‐Yu Zhang, Zigang Li, Jizheng Ma, Liyuan Sheng, Xi Chen   +14 more
wiley   +1 more source

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy

Advanced Science, Volume 13, Issue 2, 9 January 2026.
REEP1 contributes to endoplasmic reticulum (ER) shaping. Variants either cause cortical motoneuron degeneration and hereditary spastic paraplegia (HSP) or spinal motoneuron degeneration and distal hereditary motor neuropathy (dHMN). Knockout causes less complex ER structures and cortical motoneuron loss.
Andrea Bock, Mona Schurig, Miles Willoughby, Andrea Mirecki, Eric Seemann, Kateryna Lohachova, Istvan Katona, Sonnhild Mittag, Lutz Liebmann, Patricia Franzka, Mehdi Heidari Horestani, Mukhran Khundadze, Thorsten Mosler, Timothy Louie, Marianne de Visser, Marian A. J. Weterman, Michael Kiehntopf, Christian Beetz, Sandor Nietzsche, Otmar Huber, Joachim Weis, Michael M. Kessels, Ramachandra M. Bhaskara, Britta Qualmann, Ivan Đikić, Christian A. Hübner   +25 more
wiley   +1 more source

Proteogenomic Characterization Reveals Metabolic Vulnerabilities and Aberrant Phosphorylation in Colorectal Metastasis to Liver

Advanced Science, Volume 13, Issue 4, 19 January 2026.
This study provides a multi‐omics landscape of treatment‐naïve colorectal liver metastasis and reveals dysregulated molecules and cellular pathways. SHMT1 and NDRG1 Ser330 phosphorylation are demonstrated to display crucial roles in tumorigenesis and liver metastasis. Two proteomics subtypes (metabolism and RNA function) with distinct clinical outcomes
Wensi Zhao, Lei Zhao, Yannan Lian, Zhiwei Liu, Yaqi Li, Xuege Wang, Mingya Zhang, Ni Li, Jingli Guo, Danqing Shen, Shaobo Mo, Jiahao Li, Linhui Zhai, Jiahui Ni, Sangkyu Lee, Bin Liu, Jing Li, Fei Wang, Junjie Peng, Jun Qin, Minjia Tan   +20 more
wiley   +1 more source

Arid1a Deficiency Drives Aristolochic Acid‐Induced Liver Tumorigenesis through Ctnnb1 Mutation and Defective Nucleotide Excision Repair

Advanced Science, Volume 13, Issue 3, 14 January 2026.
ARID1A is frequently mutated in both non‐malignant tissues and cancers, but its role in tumor development after exposure to genotoxic carcinogen remains unclear. It is found that aristolochic acid I accelerated liver tumorigenesis in ARID1A‐deficient context by impairing nucleotide excision repair and enhancing carcinogen bioactivation, revealing key ...
Lan Wang, Shi‐Hao Bai, Shu‐Jin Song, Xiao‐Li Zhang, Xue‐Ying Shang, Zhao‐Ning Lu, Xiao‐Fang Cui, Xin‐Le Zhu, Ze‐Guang Han   +8 more
wiley   +1 more source

Exon-skipping Splice Variants of Excitatory Amino Acid Transporter-2 (EAAT2) Form Heteromeric Complexes with Full-length EAAT2 [PDF]

, 2010
Florian Gebhardt, Ann D. Mitrovic, Daniel F. Gilbert, Robert J. Vandenberg, Joseph W. Lynch, Peter R. Dodd   +5 more
openalex   +1 more source

Additional file 3 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

, 2023
Melita Kaltak, Rocío Blanco-Garavito, Laurie L. Molday, Claire‐Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P.M. Cremers   +8 more
openalex   +1 more source