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Academic Journal

Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree.

  • Authors : Li J; Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, China.; Institute of Clinical Neurology, Fujian Medical University, Fuzhou, China.

Subjects: Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics ; Pedigree* ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 20; Vol. 19 (1), pp. 471. Date of Electronic Publication: 2024 Dec 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

  • Authors : Xu J; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China.; Zou Z

Subjects: Adenosine Triphosphatases*/Adenosine Triphosphatases*/Adenosine Triphosphatases*/genetics ; Moyamoya Disease*/Moyamoya Disease*/Moyamoya Disease*/genetics ; Penetrance*

  • Source: European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16473. Date of Electronic Publication: 2024 Sep 24.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331

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Academic Journal

The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population.

  • Authors : Wu F; Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, 122 Luoshi Road, Hongshan District, Wuhan, Hubei 430070, China.; Institute of WUT-AMU, Wuhan University of Technology, 122 Luoshi Road, Hongshan District, Wuhan, Hubei 430070, China.

Subjects: Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/genetics ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/pathology ; Promoter Regions, Genetic*

  • Source: Human molecular genetics [Hum Mol Genet] 2024 Nov 08; Vol. 33 (22), pp. 1930-1938.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study.

  • Authors : Fang J; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China.; Yang X

Subjects: Adenosine Triphosphatases*/Adenosine Triphosphatases*/Adenosine Triphosphatases*/genetics ; Age of Onset* ; Genetic Predisposition to Disease*

  • Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2024 Nov; Vol. 33 (11), pp. 107982. Date of Electronic Publisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

  • Authors : Yan H; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.

Subjects: Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics; Humans ; Mutation

  • Source: Brain : a journal of neurology [Brain] 2022 Dec 19; Vol. 145 (12), pp. e122-e124.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Validation and Extension Study Exploring the Role of RNF213 p.R4810K in 2,877 Chinese Moyamoya Disease Patients.

  • Authors : Wang Y; Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang 110122, China.; Zhang Z

Subjects: Adenosine Triphosphatases*/Adenosine Triphosphatases*/Adenosine Triphosphatases*/genetics ; Moyamoya Disease*/Moyamoya Disease*/Moyamoya Disease*/genetics ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics

  • Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2021 Nov; Vol. 30 (11), pp. 106071. Date of Electronic Publisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Acupoint catgut embedding improves senescence in a rat model of ageing by regulating mitophagy via the PINK1 pathway.

  • Authors : Zhou M; Department of Traditional Chinese Medicine, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.; Yuan Y

Subjects: Aging* ; Cellular Senescence* ; Mitophagy*

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2021 Apr; Vol. 25 (8), pp. 3816-3828. Date of Electronic Publication: 2021 Mar 01.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

RING finger ubiquitin E3 ligase gene TaSDIR1-4A contributes to determination of grain size in common wheat.

  • Authors : Wang J; National Key Facility for Crop Gene Resources and Genetic Improvement/Institute of Crop Science, Chinese Academy of Agricultural Sciences, Beijing, China.; Wang R

Subjects: Triticum*/Triticum*/Triticum*/genetics ; Triticum*/Triticum*/Triticum*/metabolism ; Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/Ubiquitin-Protein Ligases*/genetics

  • Source: Journal of experimental botany [J Exp Bot] 2020 Sep 19; Vol. 71 (18), pp. 5377-5388.Publisher: Oxford University Press Country of Publication: England NLM ID: 9882906 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Associations between Huwe1 and autophagy in rat cerebral neuron oxygen‑glucose deprivation and reperfusion injury.

  • Authors : He GQ; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Chengdu, Sichuan 610041, P.R. China.; Chen Y

Subjects: Autophagy/Autophagy/Autophagy/*physiology ; Brain Ischemia/Brain Ischemia/Brain Ischemia/*metabolism ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*metabolism

  • Source: Molecular medicine reports [Mol Med Rep] 2020 Dec; Vol. 22 (6), pp. 5083-5094. Date of Electronic Publication: 2020 Oct 19.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China.

  • Authors : Cheng W; Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.; Dongguan People's Hospital (Affiliated Dongguan Hospital, South Medical University), Dongguan, Guangdong Province, China.

Subjects: Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/*genetics ; Intracranial Arterial Diseases/Intracranial Arterial Diseases/Intracranial Arterial Diseases/*genetics ; Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/Ubiquitin-Protein Ligases/*genetics

  • Source: Behavioural neurology [Behav Neurol] 2019 Mar 12; Vol. 2019, pp. 7908392. Date of Electronic Publication: 2019 Mar 12 (Print Publication: 2019).Publisher: Hindawi Country of Publication: Netherlands NLM ID: 8914585 Publication Model: eCollection Cited Medium: Internet ISSN: 1875-8584

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  • 1-10 of  162 results for ""Ubiquitin-Protein Ligases""