Zobrazeno 1 - 10
of 99
pro vyhledávání: '"POLR3B"'
Publikováno v:
Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 17, Iss 6, Pp 1251-1254 (2024)
The incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual def
Externí odkaz:
https://doaj.org/article/86058e24036e4d47b5b529c688f6ebf8
Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome
Autor:
Bright Nwatamole, MBBS, Sumana Kundu, MBBS, God-dowell O. Odukudu, MD, Prava Basnet, MBBS, Lubna Mirza, MD, FACE
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 6, Pp 229-231 (2024)
Background/Objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypog
Externí odkaz:
https://doaj.org/article/43038179d5f5403a84ddba159a10fd2c
Akademický článek
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Akademický článek
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Autor:
Sui Sawaguchi, Rimi Suzuki, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Masahiro Yamamoto, Yuki Miyamoto, Junji Yamauchi
Publikováno v:
Neurology International, Vol 14, Iss 1, Pp 212-244 (2022)
POLR3B and POLR3A are the major subunits of RNA polymerase III, which synthesizes non-coding RNAs such as tRNAs and rRNAs. Nucleotide mutations of the RNA polymerase 3 subunit b (polr3b) gene are responsible for hypomyelinating leukodystrophy 8 (HLD8
Externí odkaz:
https://doaj.org/article/4ac109e0acee4318b2c14696eb5d6fdb
Akademický článek
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Autor:
Yan-Yan Xue, Hao-Ling Cheng, Hai-Lin Dong, Hou-Min Yin, Yun Yuan, Ling-Chao Meng, Zhi-Ying Wu, Hao Yu
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodyst
Externí odkaz:
https://doaj.org/article/4d3ac404a0f84e209fcda2b393229cf9
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-6 (2021)
Abstract Background Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, and mental impairment.
Externí odkaz:
https://doaj.org/article/502407e304e34b4ba6b070201c14045b
Autor:
Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais
Publikováno v:
Molecular Brain, Vol 12, Iss 1, Pp 1-10 (2019)
Abstract Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin forma
Externí odkaz:
https://doaj.org/article/cbbd2c5dc7884b72a7840efca0d6b4f9
Autor:
Elisabeth Lata, Karine Choquet, Francis Sagliocco, Bernard Brais, Geneviève Bernard, Martin Teichmann
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA, transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III transcription is best known for its essential contribution to RNA maturati
Externí odkaz:
https://doaj.org/article/854006a57af54359916f1c9b5247f3fe