Results 71 to 80 of about 806,334 (155)

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

High‐Throughput Isolation of Nanomouse‐Derived VHH Domains: A Practical Guide from Immunization to Nanobody Expression

Current Protocols, Volume 6, Issue 7, July 2026.
Abstract Nanobodies are small but specific heavy chain–only antibody fragments. Their small size, relative stability, and ability to access difficult to reach deep‐tissue antigens makes them valuable research, diagnostic, and therapeutic tools. Nanobodies are derived from the variable heavy (VH) domain of heavy chain–only antibodies that are unique to ...
Tessa J. Casselman, Asa W. Huffaker, Kristie C. Mitchell, Jamie E. Schnarrs, Sylvia Ni, Mary E. Skinner, Matthias C. Truttmann   +6 more
wiley   +1 more source

A Comparative Study on Inter and Intra-Laboratory Reproducibility of Renin Measurement with a Conventional Enzymatic Method and a New Chemiluminescent Assay of Immunoreactive Renin

, 2009
Background: The activity of the renin-angiotensin system is usually evaluated as plasma renin activity (PRA, ng AI/ml/h) but the interlaboratory reproducibility of this enzymatic assay is notoriously scarce.
A. Morganti, on behalf of the European Group for the Validation of the DiaSorin Liaison Direct Renin Assay   +1 more
core   +2 more sources

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 7, Page 3657-3673, July 2026.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein ...
Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong‐An Zhou, Bin Zhao   +6 more
doaj   +1 more source

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Chinese Medical Journal, 2019
. Background:. Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia.
Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui   +15 more
doaj   +1 more source

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay

The HGD gene encodes homogentisate 1,2-dioxygenase. A deficiency of this enzyme causes alkaptonuria (AKU; OMIM 203500), a monogenic autosomal recessive metabolic disorder.
Elza Shchukina, Rimskaya, Beatrisa, Ekaterina Zakharova, Beatrisa Rimskaya, Zakharova, Ekaterina, Shchukina, Elza, Nekrasov, Andrey, Andrey Nekrasov   +7 more
core   +1 more source

Endogenous hnRNP L bind UNC13A WT minigene RNA in TARDBP KO HeLa cells.

, 2023
Related to Fig 4. TARDBP KO HeLa cells overexpressing the UNC13A WT minigene were UV-crosslinked and hnRNP L-bound RNA was immunoprecipitated using a mouse monoclonal hnRNP L antibody [4D11] (ab6106, Abcam), as explained in Materials and methods.
Ziyi Li (349831), Yong-Jie Zhang (85376), Yuka Koike (2249959), Karen Jansen-West (437936), Mei Yue (3106731), Dennis W. Dickson (9092001), Michael Ward (146461), Casey N. Cook (9718111), Lillian M. Daughrity (11936774), Sarah Pickles (453265), Virginia Estades Ayuso (14808991), Mercedes Prudencio (437933), Leonard Petrucelli (85402), Yue A. Qi (14808994)   +13 more
core   +1 more source

Novel biallelic splicing and deletion variants of ADAMTS3 found in adult patients with Hennekam lymphangiectasia-lymphedema syndrome 3

BMJ Connections Clinical Genetics and Genomics
Background ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3) is one of the causative genes for the Hennekam lymphangiectasia-lymphedema syndrome (HKLLS), an autosomal recessive genetic disorder. Here, we reported novel biallelic variants
Yoichi Matsubara, Masahiro Sato, Arisa Igarashi, Yoshio Makita, Nana Kobayashi, Yukimi Abe, Taiga Aoki, Takaya Iida, Masahiko Yamamori, Kumiko Yanagi, Kazuhito Sato, Tadashi Kaname   +11 more
doaj   +1 more source

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay

Artificial Cells, Nanomedicine, and Biotechnology
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang   +12 more
doaj   +1 more source