本研究针对台湾地区高发的慢性肾病(CKD)和终末期肾病(ESKD)，采用全外显子测序(WES)技术对500例台湾人群进行基因分析，发现PKD1、COL4A4等已知肾病基因的罕见变异，并鉴定出PEX1、GANAB等新候选基因。通过多基因风险评分(PGS)证实遗传风险对肾功能(eGFR)的预测价值 ...

Background: COL4As, a group of six homologous genes that encode the type IV collagen α chains (α1-α6), have been identified as the main components of the collagen network in brain basement membranes.

Acute ischemic stroke disrupts communication between neurons and blood vessels in penumbral areas. How neurons and blood vessels cooperate to achieve blood-brain barrier repair remains unclear. Here, ...

王女士 （化名）今年刚满40岁，20年前入职体检时第一次发现自己 尿隐血阳性，镜检尿红细胞也超标。此后的每一年体检，她的报告单上都会提示镜下血尿。王女士一直没太在意，毕竟身体没有任何不舒服，生活一切照常。 然而1年前，王女士发现双腿偶尔会 ...

缓冲液成份：磷酸盐缓冲液（pH7.4，含有 0.01% SKL, 1mM DTT, 5% Trehalose和Proclin300.） 储存：避免反复冻融。2-8°C不超过一个月，-80°C不超过12个月。 稳定性：热稳定性以损失率显示。损失率是由加速降解试验决定，具体方法如下：在37°C孵育48小时，没有显著的降解 ...

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...

慢性肾脏病具有患病率高、知晓率低、预后差和医疗费用高等特点，为了唤起民众对慢性肾脏病的重视，广东省中医院芳村医院肾病科王立新教授带领团队特开设此专栏，目的在于早期筛查、早期诊断及早期采用中西医结合手段治疗慢性肾脏病及预防并发症。

ABSTRACT: Background: Hypertension is a universal risk factor for cardiovascular diseases and is thus the leading cause of death worldwide. The identification of novel prognostic and pathogenesis ...

概述：奥尔波特综合征Alport syndrome（本文后称Alport综合征）是一种遗传性胶原病，为编码Ⅳ型胶原蛋白α-3链、α-4链和α-5链的基因COL4An（n=3、4、5）突变导致的基底膜病变。最常累及肾脏，其次累及眼和耳。由于上述突变导致器官胶原结构异常，进而表现为遗传 ...

Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today reported additional positive results from its proof-of-concept Phase 2 ...