Identification of multi-omic pleiotropy factors for peripheral artery disease [0.03%]
用于外周动脉疾病的多组学多效性因素识别
Jiaqi Hu,Cassius I Ochoa Chaar,Hongyu Zhao et al.
Jiaqi Hu et al.
Background: Peripheral artery disease (PAD) is prevalent and frequently co-occurs with type 2 diabetes (T2D) and coronary artery disease (CAD). Although shared genetic factors-pleiotropy-may contribute to these comorbidit...
Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria [0.03%]
特异性敲除肾脏同化酸1，2- dioxygenase揭示了对香草酸和同化酸的局部代谢在黄尿酸症中可以忽略不计
Dominic A Rutland,Brendan P Norman,Juliette H Hughes et al.
Dominic A Rutland et al.
Extreme metabolic phenotypes present unique opportunities to understand the participation of different organs in specific metabolite pathways. One such condition is the inherited metabolic disorder alkaptonuria (AKU), caused by mutations in...
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease [0.03%]
LAMA2基因的超罕见变异是额颞痴呆和运动神经元病的风险因素
Hiu Chuen Lok,Carol Dobson-Stone,Marianne Hallupp et al.
Hiu Chuen Lok et al.
There is overlap between frontotemporal dementia (FTD) and motor neuron disease (MND) in terms of genetics, neuroimaging and clinical phenotypes. We aimed to identify in three patient cohorts, ultra-rare variants (frequency ≤ 0.00002) in g...
Natural history of NGLY1 deficiency: motor function & clinical features [0.03%]
NGLY1缺陷的自然史：运动功能及临床特征
Grace Morrison,Selina Dwight,Hal Landy et al.
Grace Morrison et al.
N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected pat...
MeCP2 NID interaction with RNA: implications for Rett syndrome-relevant protein regulation [0.03%]
MeCP2-NID与RNA的相互作用及其对雷特综合征相关蛋白调控的意义
Katrina V Good,Hilmar Strickfaden,Tahir Muhammad et al.
Katrina V Good et al.
Mutations in the X-linked MECP2 gene cause the progressive neurodevelopmental disorder Rett syndrome. Pathogenic missense mutation hotspots exist in the protein's Methyl DNA binding Domain (MBD), and the Nuclear receptor Co-Repressor (NCoR)...
Combining polygenic risk scores to understand genetic liability to physical-mental health multimorbidity in UK Biobank [0.03%]
结合多基因风险评分了解英国生物样本库中身心健康的多重疾病遗传易感性
Daniel Stow,Ruby S M Tsang,Ioanna K Katzourou et al.
Daniel Stow et al.
Background: Multimorbidity, also known as multiple long-term conditions, is a major public health concern. Internalising and CardioMetabolic MultiMorbidity (ICM-MM) is a common form of mental-physical health multimorbidit...
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies [0.03%]
p.(Leu97Ile)变异扩展了NEFL相关Charcot-Marie-Tooth神经病变的遗传谱系
Menekse Oeztuerk,Sara Walli,David Muhmann et al.
Menekse Oeztuerk et al.
Introduction: Charcot Marie Tooth neuropathies arise from diverse genetic disturbances that impair axonal structure or myelin integrity. Variants in NEFL, encoding the light chain of neurofilaments, represent a rare cause...
Genetic vitamin B6 deficiency exacerbates alcohol behavioral responses, metabolism, and toxicity in Drosophila [0.03%]
遗传性维生素B6缺乏加剧了果蝇的酒精行为反应、代谢和毒性
Benjamin Wang,Wenqin Fu,Atsushi Ueda et al.
Benjamin Wang et al.
Alcohol abuse is a leading cause of preventable deaths. Alcohol affects brain function and metabolism, including GABA transmission and vitamin B6 (VB6) levels. VB6 is a cofactor for GABA synthesis and degradation; however, the interaction b...
Rats lacking emerin develop muscle pathologies and molecular alterations found in humans with X-linked EDMD [0.03%]
埃梅rin缺陷大鼠出现肌病理和人类X-连锁EDMD发现的分子改变
Mikayla C Lopes,Mary Flordelys Avila,Arvin Soepriatna et al.
Mikayla C Lopes et al.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a progressive disease characterized by cardiac and skeletal muscle dysfunction. A primary cause of EDMD is loss of function of the X-chromosome gene emerin (EMD). Although emerin mutations were di...
Genetic insights into pulmonary nodules and lung cancer: similarities and differences revealed by GWAS studies [0.03%]
基因组研究揭示肺结节和肺癌的遗传见解：GWAS研究显示的相似性和差异性
Jiahao Zhang,Chen Zhu,Qiao Li et al.
Jiahao Zhang et al.
The widespread implementation of low-dose computed tomography (LDCT) has markedly increased the detection of pulmonary nodules, yet their genetic determinants remain poorly understood. We conducted a genome-wide association study (GWAS) of ...