Results 31 to 40 of about 25,953 (158)
Annals of Human Biology, 2021 Background The androgen receptor (AR) gene contains a polymorphic trinucleotide (CAG) microsatellite repeat sequence (short or long alleles) that has been associated with fat-free mass in untrained men, which needs to be replicated in athletic cohorts ...
João Paulo L. F. Guilherme +6 more
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An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting [PDF]
Journal of Biological Chemistry, 2016 Maintenance of triplet decoding is crucial for the expression of functional protein because deviations either into the -1 or +1 reading frames are often non-functional. We report here that expression of huntingtin (Htt) exon 1 with expanded CAG repeats, implicated in Huntington pathology, undergoes a sporadic +1 frameshift to generate from the CAG ...
Saffert, Paul +4 more
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Characterization of Four Novel CAG Repeat-Containing cDNAs [PDF]
Genomics, 1995 Stretches of CAG nucleotides coding for the amino acid glutamine are an important feature of many transcription factors and genes that are involved in neurodegenerative disorders. In an attempt to isolate CAG repeat-containing cDNAs expressed in nervous tissue, we screened a human fetal brain cDNA library with a probe containing a CAG repeat.
Jiang, Jin Xing +3 more
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Mouse Models of Human CAG Repeat Disorders
Brain Pathology, 1997 Expansions of CAG trinucleotide repeats encoding glutamine have been found to be the causative mutations of seven human neurodegenerative diseases. Similarities in the clinical, genetic, and molecular features of these disorders suggest they share a common mechanism of pathogenesis.
E N, Burright, H T, Orr, H B, Clark
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Influence of CAG Repeat Polymorphism on the Targets of Testosterone Action [PDF]
International Journal of Endocrinology, 2015 In the last decade, ample evidence has demonstrated the growing importance of androgen receptor (AR) CAG repeat polymorphism in andrology. This genetic parameter is able to condition the peripheral effects of testosterone and therefore to influence male sexual function and fertility, cardiovascular risk, body composition, bone metabolism, the risk of ...
Tirabassi G +12 more
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PolyQ-independent toxicity associated with novel translational products from CAG repeat expansions.
PLoS ONE, 2020 Expanded CAG nucleotide repeats are the underlying genetic cause of at least 14 incurable diseases, including Huntington's disease (HD). The toxicity associated with many CAG repeat expansions is thought to be due to the translation of the CAG repeat to ...
Paige Rudich +2 more
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Clinical Aspects of CAG Repeat Diseases
Brain Pathology, 1997 Seven neurodegenerative disorders are known to be caused by unstable expansions of the trinucleotide CAG within human genes, and more will be discovered in the coming years. These disorders share some clinical similarities, as well as some differences, which are summarized here.
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Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice
Neurobiology of Disease, 2009 Huntington's disease (HD) is caused by an expanded CAG repeat in the HD gene. The pathological threshold for expansion in HD is around 36 CAG repeats, although ‘super-long’ expansions are found in brains of HD patients.
A Jennifer Morton +6 more
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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]
Journal of Movement Disorders, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh +5 more
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Sexual Medicine, 2017 Introduction: Long-term adverse symptoms of men who used oral finasteride against androgenic alopecia have been recently described as post-finasteride syndrome (PFS).
Sabina Cauci, PhD +6 more
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