Zobrazeno 1 - 10
of 3 940
pro vyhledávání: '"cag repeat"'
Publikováno v:
Vestnik Urologii, Vol 12, Iss 4, Pp 14-22 (2024)
Introduction. The influence of the length of the number of CAG repeats in the androgen receptor gene (nCAG AR) on endothelial dysfunction (EnD) is currently understudied.Objective. The study aimed to evaluate the relationship between the nCAG AR and
Externí odkaz:
https://doaj.org/article/af29a1df1a674340a5228cb8e9d4212a
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 28, Iss 1, Pp 80-89 (2024)
Androgens are required for stimulation and maintenance of skeletal growth and bone homeostasis. Physiological functions of androgens are mediated through the androgen receptor (AR). The androgen receptor gene AR has a polymorphic trinucleotide CAG re
Externí odkaz:
https://doaj.org/article/4a8168162d474f5a9b51eec68a3ac5a2
Autor:
Sara Emerla, Natalia Małek, Konrad Karłowicz, Aleksandra Brożyna, Anita Kwiatkowska, Arkadiusz Bydliński, Maria Hermanowska, Julia Lubomirska, Patrycja Figurowska, Łukasz Ciulkiewicz
Publikováno v:
Journal of Education, Health and Sport, Vol 74 (2024)
Introduction and Purpose: Spinal bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare genetic disorder characterized by progressive muscle weakness and atrophy. The purpose of this review is to provide a comprehensive underst
Externí odkaz:
https://doaj.org/article/5251f918453b4f20bdabfbc3ffb6747a
Autor:
Doo Eun Choi, Jun Wan Shin, Sophia Zeng, Eun Pyo Hong, Jae-Hyun Jang, Jacob M Loupe, Vanessa C Wheeler, Hannah E Stutzman, Ben Kleinstiver, Jong-Min Lee
Publikováno v:
eLife, Vol 12 (2024)
An expanded CAG repeat in the huntingtin gene (HTT) causes Huntington’s disease (HD). Since the length of uninterrupted CAG repeat, not polyglutamine, determines the age-at-onset in HD, base editing strategies to convert CAG to CAA are anticipated
Externí odkaz:
https://doaj.org/article/be3156c656d24edfa4a721019c3ab21e
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract DNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT). Here we have studied constitution
Externí odkaz:
https://doaj.org/article/7e8f2306aea34783a1ca07f753e296b9
Akademický článek
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Publikováno v:
BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Previous research has revealed that skewed X chromosome inactivation (SXCI) and androgen receptor (AR) CAG polymorphisms are associated with increased risk of recurrent pregnancy loss (RPL); however, the results are conflicting, a
Externí odkaz:
https://doaj.org/article/85af7622357c428388b445dbbb1a70cd
Akademický článek
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Publikováno v:
Ibrain, Vol 8, Iss 2, Pp 241-245 (2022)
Abstract The aim of this article was to analyze the clinical and genetic characteristics of a patient with Huntington's disease and her family. We analyzed the clinical data of a patient with Huntington's disease and her family members in the Departm
Externí odkaz:
https://doaj.org/article/0c1c49ea8a154adfa055b77c6ec5c388
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is the most common dominantly inherited ataxia. SCA3 is caused by a CAG repeat expansion in the ATXN3 gene that encodes an expanded tract of polyglutamine in the disease pr
Externí odkaz:
https://doaj.org/article/991999bc1a0e46f9874fa65dc397724f