Zobrazeno 1 - 10
of 4 733
pro vyhledávání: '"COMMON VARIANTS"'
Autor:
M. Reza Jabalameli, Jhih-Rong Lin, Quanwei Zhang, Zhen Wang, Joydeep Mitra, Nha Nguyen, Tina Gao, Mark Khusidman, Sanish Sathyan, Gil Atzmon, Sofiya Milman, Jan Vijg, Nir Barzilai, Zhengdong D. Zhang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-19 (2024)
Abstract The highly polygenic nature of human longevity renders pleiotropy an indispensable feature of its genetic architecture. Leveraging the genetic correlation between aging-related traits (ARTs), we aimed to model the additive variance in lifesp
Externí odkaz:
https://doaj.org/article/e7089311efc14bf3834f43d096b8f9b4
Publikováno v:
Annals of Medicine, Vol 56, Iss 1 (2024)
Objective In the Asian population, SOD1 variants are the most common cause of amyotrophic lateral sclerosis (ALS). To date, more than 200 variants have been reported in SOD1. This study aimed to summarize the genotype–phenotype correlation and dete
Externí odkaz:
https://doaj.org/article/2b661cf7683e4ea5af035b09b45155d3
Autor:
Noor E. Taams, Maria J. Knol, Rens Hanewinckel, Judith Drenthen, Mary M. Reilly, Pieter A. van Doorn, Hieab H. H. Adams, M. Arfan Ikram
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionDisease susceptibility of chronic axonal polyneuropathy is not fully explained by clinical risk factors. Therefore, we determined the contribution of common genetic variants in chronic axonal polyneuropathy in the general population.Metho
Externí odkaz:
https://doaj.org/article/040b80eabbe8418382c0003d9afde3d1
Autor:
Adel Abuzenadah, Nofe Alganmi, Raghad AlQurashi, Esraa Hawsa, Abdullah AlOtibi, Abdulrahman Hummadi, Ahmed Ali Nahari, Somaya AlZelaye, Nasser R. Aljuhani, Manal Al-Attas, Heba Abusamra, Shereen Turkistany, Sajjad Karim, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary, Mariam M. Al Eissa
Publikováno v:
Journal of Epidemiology and Global Health, Vol 14, Iss 1, Pp 162-168 (2024)
Abstract Background Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by
Externí odkaz:
https://doaj.org/article/77f892a1ac48446da3a7bc8d65a5ff3d
Autor:
Yafen Yu, Qi Zhen, Weiwei Chen, Yanqin Yu, Zhuo Li, Yirui Wang, Wencheng Fan, Sihan Luo, Daiyue Wang, Yuanming Bai, Zhuan Bian, Miao He, Liangdan Sun
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial birth malformations in humans and are generally classified as nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only
Externí odkaz:
https://doaj.org/article/35ec4b3d8ba045379712c99479f96fce
Akademický článek
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Autor:
Jiabin Liu, Juanjuan Huang, Yuwen Zhao, Hongxu Pan, Yige Wang, Zhenhua Liu, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Beisha Tang, Jifeng Guo
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionParkinson's disease (PD) is a progressive movement disorder caused by a loss of dopaminergic neurons. Previous studies have highlighted the importance of mitochondria dynamics in the pathogenesis of PD. Dynamin-1-like (DNM1L) is a gene th
Externí odkaz:
https://doaj.org/article/6ccaba5c801046a194d7e4b419488d2f
Autor:
Ya-Fei Wen, Xue-Wen Xiao, Lu Zhou, Ya-Ling Jiang, Yuan Zhu, Li-Na Guo, Xin Wang, Hui Liu, Ya-Fang Zhou, Jun-Ling Wang, Xin-Xin Liao, Lu Shen, Bin Jiao
Publikováno v:
Neural Regeneration Research, Vol 17, Iss 3, Pp 682-689 (2022)
SNCA, GBA, and VPS35 are three common genes associated with Parkinson’s disease. Previous studies have shown that these three genes may be associated with Alzheimer’s disease (AD). However, it is unclear whether these genes increase the risk of A
Externí odkaz:
https://doaj.org/article/f704e08bc8a84c6c94b7723f26831caa
Autor:
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Beisha Tang, Jifeng Guo
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
ObjectiveCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. Previous studies have established a link between NOTCH
Externí odkaz:
https://doaj.org/article/c1a3411c929147a2a5f9e251d7b00b0f
Akademický článek
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