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Comparative deletion map** at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
BackgroundWhile chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm...
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Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs)
In recent years, remarkable advances in the ability to diagnose genetic disorders have been made. The identification of disease-causing genes allows...
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Current Perspective of Stem Cell Therapy in Neurodegenerative and Metabolic Diseases
Neurodegenerative diseases have been an unsolved riddle for quite a while; to date, there are no proper and effective curative treatments and only...
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Macaque species susceptibility to simian immunodeficiency virus: increased incidence of SIV central nervous system disease in pigtailed macaques versus rhesus macaques
Immune pressure exerted by MHC class I-restricted cytotoxic T cells drives the development of viral escape mutations, thereby regulating HIV disease...
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Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease
Sandhoff disease (SD) is caused by deficiency of N-acetyl-β-hexosaminidase (Hex) resulting in pathological accumulation of GM2 ganglioside in...
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Cellular Applications of Semiconductor Quantum Dots at the U.S. Naval Research Laboratory: 2006–2016
Since they were first described over two decades ago, interest in interfacing highly fluorescent semiconductor nanocrystals, or quantum dots, with... -
IL-27: Structure, Regulation, and Variability
Interleukin 27 (IL-27) is a novel cytokine secreted by stimulated antigen-presenting cells. Initial studies on the biology of IL-27 provided evidence... -
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Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases
The insulin-like growth factor II/mannose 6-phosphate (IGF-II/M6P) receptor is a multifunctional single transmembrane glycoprotein. Recent studies...
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Cell Therapy for Pediatric Disorders of Glia
The childhood disorders of glia comprise a group of diseases that include the pediatric leukodystrophies and lysosomal storage disorders, cerebral... -
DC-SIGN in Infection and Immunity
Dendritic cells (DCs) play a central role in the immune system by patrolling peripheral tissues to sample antigens to induce antigen-specific... -
Stem Cell Therapy for GVHD
Graft-versus-host disease (GVHD) is a major complication associated with morbidity and mortality following allogeneic hematopoietic stem cell... -
Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression
BackgroundThe neuronal ceroid lipofuscinoses (NCLs; or Batten disease) are fatal inherited human neurodegenerative diseases affecting an estimated...
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Current Advances in Genome Detection of Peste des Petits Ruminants Virus
Molecular techniques have given various opportunities to detect the genome of peste des petits ruminants virus (PPRV) at high resolutions, and these... -
Transplantation of Stem Cells to Treat Patients with Multiple Sclerosis
Multiple sclerosis (MS) is an acquired inflammatory and neurodegenerative immune-mediated disorder of the central nervous system (CNS), characterized... -
Comparative Efficacy of an Imidacloprid/Flumethrin Collar (Seresto®) and an Oral Fluralaner Chewable Tablet (Bravecto®) against Tick (Dermacentor variabilis and Amblyomma americanum) Infestations on Dogs: a Randomised Controlled Trial
This controlled laboratory study demonstrated the residual speed of efficacy of an imidacloprid/flumethrin collar (Seresto ® , Bayer) for the control...
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Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
Purpose:Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. Because of extreme genetic heterogeneity, the etiology and...