Results 81 to 90 of about 3,322,892 (202)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Rare occurrence of cryptic 5’ splice sites by downstream 3’ splice site/exon boundary mutations in a heavy-ion-induced egy1-4 allele of Arabidopsis thaliana

Frontiers in Plant Science
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been ...
Alvin Sanjaya, Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara, Makoto T. Fujiwara   +10 more
doaj   +1 more source

A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]

, 2008
With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC Medical Genetics, 2011
Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis.
Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J   +4 more
doaj   +1 more source

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

Frontiers in Genetics, 2020
Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.
Muhammad Imran Naseer, Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Fehmida Bibi, Fehmida Bibi, Adeel G. Chaudhary, Adeel G. Chaudhary, Adeel G. Chaudhary   +9 more
doaj   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Novel MSH2 splice-site mutation in a young patient with Lynch syndrome

, 2018
Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3.
RAFFAELLA LICCARDO, MARINA DE ROSA, FRANCESCA DURATURO, PAOLA IZZO   +3 more
core   +1 more source

Longitudinal Morphomolecular Monitoring of Head and Neck Carcinogenesis

Advanced Science, EarlyView.
A miniaturized endoscopic probe that integrates Raman spectroscopy and optical coherence tomography, enabling simultaneous molecular and structural imaging of living tissue, was developed. Applied longitudinally in a mouse model of head and neck cancer, the system tracks disease progression from precancerous lesions to invasive cancer.
Jianrong Qiu, Priyanka G. Bhosale, Vishal Kumar, Jeyrroy Gabriel, Shiyue Liu, Ciro Chiappini, Richard J. Cook, Mads S. Bergholt   +7 more
wiley   +1 more source

CFTR protein analysis of splice site mutation 2789+5 G-A [PDF]

, 2007
Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR.
Andreas Claaß, Ballmann, Manfred, Stanke, Frauke, Andrea van Barneveld, Frauke Stanke, Manfred Ballmann, Claaß, Andreas, Burkhard Tümmler, van Barneveld, Andrea, Tümmler, Burkhard   +9 more
core   +1 more source