Bringing environment back into human evolution: why human genetics needs genome-environment association studies [0.03%]
Pei-Wei Sun
Pei-Wei Sun
Understanding the genetic basis of human adaptation to environmental pressures is a central question in evolutionary biology. Recent advancements in genome-environment association (GEA) methods have provided novel insights into how genetic ...
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved [0.03%]
DEGS1的一种新型剪接位点变异导致异常剪接和丧失DEGS1酶活性的一个多义性突变的解决方法
Holly C Beale,Victor Tse,Joanna Y Lee et al.
Holly C Beale et al.
Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 ...
Case Reports
Human genetics. 2026 May 6;145(1):41. DOI:10.1007/s00439-026-02830-9 2026
Epigenetic silencing of DLEC1 correlates with tumor immune microenvironment and predicts immunotherapy prognosis in multiple cancers [0.03%]
DLEC1表观遗传沉默与肿瘤免疫微环境相关，并可预测多种癌症的免疫治疗预后
Ruijie Ming,Qi Xiong,Shuh-Ying Tan et al.
Ruijie Ming et al.
Cancer remains a major health issue globally, with increasing incidence and mortality rates. While immunotherapy has revolutionized cancer treatment, not all patients benefit, urging the identification of predictive biomarkers. This study u...
Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells [0.03%]
利用新的低 notch 活性细胞改进 alagille 综合征患者功能 jag1 和 notch2 基因变异检测
Nicole Buhl,Eva-Doreen Pfister,Daniel V Oliveira et al.
Nicole Buhl et al.
The autosomal dominant multisystemic Alagille Syndrome (ALGS) is an important cause of pediatric cholestasis. ALGS is associated with pathogenic variants in JAGGED1 (JAG1) or NOTCH2, ligand and receptor components of the Notch-signaling pat...
Correction: Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies [0.03%]
NR6A1的新变异与先天性肾、椎体和子宫畸形相关
Adeline Jacquinet,Lydie Flasse,Manon Dohet et al.
Adeline Jacquinet et al.
Published Erratum
Human genetics. 2026 Apr 13;145(1):38. DOI:10.1007/s00439-026-02829-2 2026
Integrating machine learning and spatial transcriptomics uncovers shared immunomodulatory deubiquitinases in MAFLD and HCC [0.03%]
集成机器学习和空间转录组学发现MAFLD和HCC中共享的免疫调节去泛素酶
Yu-Xi Han,Hongze Li,Wendi Xia et al.
Yu-Xi Han et al.
Hepatocellular carcinoma (HCC) represents a malignancy with high global mortality. Metabolic dysfunction-associated fatty liver disease (MAFLD) serves as a significant contributory pathogenic factor. Deubiquitinases (DUBs), which regulate p...
The genetic associations of DNAJC family members with Parkinson's disease: comprehensive evidence from burden analysis and Mendelian randomization [0.03%]
DNAJC家族成员与帕金森病的遗传关联：来自负担分析和孟德尔随机化的全面证据
Dehao Yang,Jingxuan Xu,Yusheng Zhu et al.
Dehao Yang et al.
Background: Recent studies suggested that genetic mutations in the DNAJC family might elevate the risk of Parkinson's disease (PD). Nevertheless, the role of some DNAJC genes in PD remains controversial, and previous stud...
DNA methylation signatures from peripheral blood revealed epigenetic alterations in Fanconi anemia [0.03%]
发现先天性再生障碍性贫血患者外周血DNA甲基化改变的表观遗传学特征签名
Merin George,Sumit Halder,Shafi Gowhar et al.
Merin George et al.
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification [0.03%]
BRCA1、BRCA2和PALB2变异分类的共分离分析综合且易于使用的方法模型
Setareh Moghadasi,Ramin Monajemi,Merel E Braspenning et al.
Setareh Moghadasi et al.
Variants of uncertain significance (VUS) are genetic variations with unclear clinical implications, often complicating clinical management in genetic testing. The analysis of co-segregation of the variant with the disease in families has be...
Marie Valerie Roche,Pei-Ciao Tang,Denise Yan et al.
Marie Valerie Roche et al.
Hearing loss is a prevalent sensory condition that affects the ability to perceive sounds. Hair cells play a vital role in hearing by converting mechanical sound vibrations into electrical signals that are transmitted to the brain. In human...