Results 71 to 80 of about 11,911 (175)

Construction and expression analysis of the PCLO minigene.

, 2013
(A) Representation of the PCLO minigene fused to the GFP coding sequence. The position of the mutation is indicated in bold. The positions of the primers used for RT-PCR are indicated by small arrows.
Toshitaka Nabeshima (238835), Yoshiaki Miyamoto (475357), Kanako Takayama (475355), Kyosuke Uno (475356), Kazutaka Ikeda (142226), Kazutaka Ohi (162471), Norio Ozaki (162512), Ryota Hashimoto (162478), Daisuke Nishizawa (259599), Seunghee Seo (475354), Atsumi Nitta (475358)   +10 more
core   +1 more source

Discovery of T cell antigens by high-throughput screening of synthetic minigene libraries. [PDF]

, 2012
The identification of novel T cell antigens is central to basic and translational research in autoimmunity, tumor immunology, transplant immunology, and vaccine design for infectious disease.
Katharine V. Schwedhelm (188134), Srinath Sanda, Leonard A D'Amico, Leonard A. D'Amico, Martin McIntosh, Arnold Kas (188137), Brad Stone (188163), Michael A. Tasch (188141), Nathan E. Standifer, Crystal Rawlings (188144), Jay Shendure (814), Brian D Hondowicz, Martin McIntosh (160973), Brian D. Hondowicz, Michael A Tasch, Leonard A. D'Amico (188151), Jay Shendure, Srinath Sanda (188156), Katharine V. Schwedhelm, Katharine V Schwedhelm, Crystal Rawlings, Nirasha Ramchurren, Brad Stone, Michael A. Tasch, Arnold Kas, Brian D. Hondowicz (188132), Nathan E Standifer, Nirasha Ramchurren (188147), Nathan E. Standifer (188160)   +28 more
core   +1 more source

Growth Hormone Receptor Antagonism Extends Lifespan

Aging Cell, Volume 25, Issue 9, September 2026.
This study provides proof of concept that GH antagonism in GH‐producing mice extends lifespan, supporting further investigation of GH antagonists as potential anti‐aging interventions in animals and humans. ABSTRACT Interventions that disrupt growth hormone (GH) action are recognized as some of the most potent methods for extending lifespan ...
Edward O. List, Darlene E. Berryman, Grace S. Lach, Delaney F. Minto, Keeley Weese, John J. Kopchick   +5 more
wiley   +1 more source

Sequence of cDNA generated by minigene.

, 2015
(A) Schematic diagram of the FLAG-tagged MSX1 gene. Thick cylinders, exons; blue cylinder, FLAG-tag; asterisk, position at nucleotide substitution; red cylinder, 7-nucleotide insertion.
Kazuo Shimozato (610781), Junichiro Machida (610775), Yoshihito Tokita (610782), Mitsuko Nakashima (459418), Hiroki Goto (2059810), Naomichi Matsumoto (459422), Tadashi Tatematsu (610779), Akio Shibata (610778), Seishi Yamaguchi (610774), Yujiro Higashi (203354), Atsuo Nakayama (185126), Masashi Kimura (610777), Hitoshi Miyachi (403234)   +12 more
core   +1 more source

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

Frontiers in Genetics
With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in ...
Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li   +4 more
doaj   +1 more source

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

British Journal of Haematology, EarlyView.
Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin   +8 more
wiley   +1 more source

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

Advanced Science, Volume 13, Issue 44, 7 August 2026.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li, Zhongshao Chen, Qianqian Gao, Yuehan Gao, Ning Yang   +4 more
wiley   +1 more source

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

Molecular Therapy: Nucleic Acids, 2016
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (α-Gal A) enzyme, which is encoded by the GLA gene.
Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, Renzo Guerrini, Michela Alessandra Denti, Amelia Morrone   +5 more
doaj   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Protein Disulfide Isomerase Disassembles TDP‐43/G3BP1 Condensates and Antagonizes TDP‐43 Pathological Aggregates

Advanced Science, Volume 13, Issue 38, 9 July 2026.
Cytoplasmic aggregation of TDP‐43 is a common pathological feature in amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and Alzheimer's disease with TDP‐43 pathology. This study reports that wild‐type PDI slows down phase separation of TDP‐43 through direct interaction with TDP‐43.
Jia‐Qi Liu, Hao Liu, Yu‐Xuan Sun, Yuying Li, Xiangyi Liu, Li‐Qiang Wang, Zhaofei Yang, Qi Fu, Xiaojiao Xu, Jie Chen, Yingshuang Zhang, Jun Zhou, Weidong Le, Mengchao Cui, Yi Liang   +14 more
wiley   +1 more source