Results 61 to 70 of about 6,757 (149)

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Frontiers in Neurology, 2023
IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze SPAST variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to ...
Rosangela Ferese, Simona Scala, Antonio Suppa, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Francesco Fornai, Giuseppe Novelli, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Diego Centonze, Stefano Gambardella, Stefano Gambardella   +23 more
doaj   +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

Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

The Journal of Pathology, 2019
AbstractSplicing disruption is a common mechanism of gene inactivation associated with germline variants of susceptibility genes. To study the role of BRCA2 mis‐splicing in hereditary breast/ovarian cancer (HBOC), we performed a comprehensive analysis of variants from BRCA2 exons 2–9, as well as the initial characterization of the regulatory mechanisms
Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez, Elisa Goina, Alberto Acedo, Emanuele Buratti, Eladio A Velasco   +6 more
openaire   +3 more sources

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

Cancers, 2022
PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minigene assays, that 35 out of 42 PALB2 variants impaired splicing.
Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A. Velasco-Sampedro   +9 more
openaire   +5 more sources

Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro

Zhongguo shuxue zazhi
[Objective] To further identify the RhD phenotype and RHD genotype in the individual who have RhD negative phenotype in the primary screening, and to analyze the effect of c. 801+2T>G mutation on RhD phenotype by minigene splicing assay.
JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli   +5 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

Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder

Molecular Genetics & Genomic Medicine
Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated
Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng   +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

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

BMC Medical Genomics
Background Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the
Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang   +7 more
doaj   +1 more source