guanine/atrophy

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Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens.

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OBJECTIVE To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS Linkage analysis, with previously uncharacterized microsatellite markers from chicken chromosome 1, was performed on 138 progeny of an rge/+

Lack of expansion of cytosine adenine guanine trinucleotide repeat in the dentatorubral and pallidoluysian atrophy gene in Swedish schizophrenic patients.

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Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy.

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We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy

Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan.

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OBJECTIVE Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

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To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical course of three family members with Versican Vitreoretinopathy (VVR) is described, and a canonical splice site mutation in the gene encoding for versican (VCAN) protein was biochemically

Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration.

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Photoreceptor cell degeneration leads to visual impairment and blindness in several types of retinal disease. However, the discovery of safe and effective therapeutic strategies conferring photoreceptor cell protection remains challenging. Targeting distinct cellular pathways with low doses of

Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.

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We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. A novel heterozygous guanine (G)-to-thymine (T) transition at position 1392, c.1392G>T,

Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

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There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than

Polymerase recognition of synthetic oligodeoxyribonucleotides incorporating degenerate pyrimidine and purine bases.

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A universal base that is capable of substituting for any of the four natural bases in DNA would be of great utility in both mutagenesis and recombinant DNA experiments. This paper describes the properties of oligonucleotides incorporating two degenerate bases, the pyrimidine base

X-linked muscular atrophy and the androgen receptor.

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X-linked muscular atrophy is a form of adult-onset, usually slowly progressive spinal and bulbar motor neuron degenerative disease that is uniquely associated with male hypogonadism. The mutation responsible for this syndrome is expansion of the trinucleotide repeat-cytosine (C), adenine (A),

[Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy].

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OBJECTIVE To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds. METHODS Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy.

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Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with

Specific degenerate codons enhanced selective expression of human parathyroid hormone in Escherichia coli.

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Specific degenerate codons in the amino-terminal region of a synthetic human parathyroid hormone (PTH) gene exerted dramatic effects on both products and yield of expression of this 84-amino acid polypeptide in Escherichia coli. With adenine-rich degenerate codons constituting the PTH-(1-5) region,

Protein phosphatase 4 coordinates glial membrane recruitment and phagocytic clearance of degenerating axons in Drosophila.

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Neuronal damage induced by injury, stroke, or neurodegenerative disease elicits swift immune responses from glial cells, including altered gene expression, directed migration to injury sites, and glial clearance of damaged neurons through phagocytic engulfment. Collectively, these responses hinder

Modulating sphingolipid biosynthetic pathway rescues photoreceptor degeneration.

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Mutations in proteins of the Drosophila phototransduction cascade, a prototypic guanine nucleotide-binding protein-coupled receptor signaling system, lead to retinal degeneration and have been used as models to understand human degenerative disorders. Here, modulating the sphingolipid biosynthetic

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