Results 191 to 200 of about 304,363 (385)

The Human Intron-Containing Gene for Glycogenin Maps to Chromosome 3, Band q24

open access: hybrid, 1996
Joseph Lomako   +5 more
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Introns within Ribosomal Protein Genes Regulate the Production and Function of Yeast Ribosomes [PDF]

open access: bronze, 2011
Julie Parenteau   +7 more
openalex   +1 more source

Cadherin‐26 Facilitates Transepithelial Migration of Eosinophils in Eosinophilic Chronic Rhinosinusitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Eosinophilic chronic rhinosinusitis with nasal polyps (eCRSwNP) is characterized by persistent sinonasal inflammation and marked eosinophilic infiltration. Although the relationship between eosinophils and NP formation has been extensively studied, the mechanisms governing eosinophil transepithelial migration into the nasal mucosa ...
Yeong‐In Jo   +7 more
wiley   +1 more source

A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene [PDF]

open access: hybrid, 1996
Annabel N. Smith   +6 more
openalex   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

open access: yesAnnals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji   +10 more
wiley   +1 more source

U12-type Spliceosomal Introns of Insecta

open access: yesInternational Journal of Biological Sciences, 2012
Most of eukaryotic genes are interrupted by introns that need to be removed from pre-mRNAs before they can perform their function. This is done by complex machinery called spliceosome.
Jessin Janice, Amit Pande, January Weiner, Chiao-Feng Lin, Wojciech Makałowski
doaj  

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