Results 121 to 130 of about 419,485 (330)
Assessing the number of ancestral alternatively spliced exons in the human genome
BMC Genomics, 2006 Background It is estimated that between 35% and 74% of all human genes undergo alternative splicing. However, as a gene that undergoes alternative splicing can have between one and dozens of alternative exons, the number of alternatively spliced genes by
Sorek Rotem, Dror Gideon, Shamir Ron
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2013 Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of
Naseroleslami M +6 more
doaj
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre +152 more
wiley +1 more source
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
BMC Medical Genetics, 2007 Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B +3 more
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BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Targeting and regulatory mechanisms in chromosome-wide gene regulation using Drosophila melanogaster as a model organism [PDF]
, 2010 Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2010O cromossoma 4 de Drosophila melanogaster é muito heterocromático, sendo rico em DNA satélite e DNA de elementos transposáveis. Apesar das suas
Figueiredo, Ana Margarida Adónis, 1986-
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang +11 more
wiley +1 more source
HOW TO USE EXON RESINS PLUS Firestone TECHNICAL SERVICE ...for a shortcut to a better [PDF]
, 1953 openalex +1 more source