Results 51 to 60 of about 9,190 (179)

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

New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images

Molecular Genetics & Genomic Medicine, 2023
Background X‐linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of NR0B1, most of which are frame‐shifting variants, and ...
Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang   +9 more
doaj   +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

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

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders

Molecular Genetics & Genomic Medicine
Background SYNGAP1 encodes a Ras/Rap GTPase‐activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been
Wuming Xie, Baoqiong Liao, Mei Shuai, Rutian Liu, Min Hong, Shuwen He   +5 more
doaj   +1 more source

Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays

Frontiers in Immunology
BackgroundMutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio
Lin-Nan Shao, Wen-Qian Song, Lu Zhou, Ling-Zi Pan, Ying Duan, Nan Xiao, Shi-Hang Zhou, Xiao-Hua Liang   +7 more
doaj   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics & Genomic Medicine
Background SRP72‐associated hereditary bone marrow failure syndrome type 1 (BMFS1) has recently been described and only six families have been reported so far.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 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

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Although in silico tools predicted minimal splicing impact, functional minigene assays demonstrate that the synonymous MYH6 c.804G>C variant induces partial exon 10 skipping (~6.8% in HEK293T cells and ~4.7% in HeLa cells), supporting its potential contribution to HCM pathogenesis.
Songlin Zhang, Xiaohua Tang, Leixiang Yang, Yang Wang, Yong Cui, Xiaopan Chen   +5 more
wiley   +1 more source