Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China [0.03%]
中国新生儿D-双功能蛋白缺乏症的病例报告：由新型复合杂合HSD17B4变异引起
Hui Liu,Gaojie Liu,Lianjun Gao et al.
Hui Liu et al.
Background: D-bifunctional protein deficiency (D-BPD) is a rare fatal autosomal recessive peroxisomal disorder caused by biallelic pathogenic mutations in the hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4) gene; it is c...
Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency [0.03%]
Malan综合征中NFIX移码突变的机制见解：泛素蛋白酶体途径介导的半合子不足
Yan Zhou,Linbing Zou,Yaoyao Li
Yan Zhou
Objective: To investigated the pathogenic mechanism of NFIX frameshift mutations in Malan syndrome. Methods: Reviewed the clinical diag...
Systems biology and experimental validation indicate DDIT4, FOXO1, and STAT3 as shared key genes linking osteoporosis and sarcopenia [0.03%]
系统生物学和实验验证表明DDIT4、FOXO1和STAT3是骨质疏松症和肌少症之间的共享关键基因
Wenjing Li,Yuechen Xing,Lihong Jiang et al.
Wenjing Li et al.
Background: With the aging population, osteoporosis and sarcopenia have emerged as two prevalent age-related degenerative diseases that pose significant public health challenges. Although clinical studies increasingly rep...
Correction: Identification of shared diagnostic genes between osteoporosis and Crohn's disease through integrated transcriptomic analysis and machine learning [0.03%]
Correction:通过整合转录组分析和机器学习识别骨质疏松症和克罗恩病之间的共同诊断基因
Guirong Yi,Peng Zhou,Qinxu Yang et al.
Guirong Yi et al.
[This corrects the article DOI: 10.3389/fgene.2025.1609915.]. Keywords: Crohn’s disease; co-diagnosis; mach...
Published Erratum
Frontiers in genetics. 2025 Nov 7:16:1722642. DOI:10.3389/fgene.2025.1722642 2025
Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay [0.03%]
病例报告：全外显子组测序揭示了一个中国智力发育迟缓家系中的SETBP1基因新生变异
Junlin Pan,Yan Zhang,Jinwei Hou et al.
Junlin Pan et al.
Background: This study aims to characterize the potential genetic etiologies in children with developmental delay through whole-exome sequencing (WES) providing assistance for clinical diagnosis, genetic counseling, and r...
Clarifying species boundaries between bocachico (Prochilodus magdalenae) and bocachico de Maracaibo (Prochilodus reticulatus) (characiformes: Prochilodontidae) using complete mitochondrial genomes [0.03%]
利用完整线粒体基因组澄清马德拉娜roach鱼（Prochilodus magdalenae）和马拉开波roach鱼（Prochilodus reticulatus）之间的物种界限（裂唇鱼科：裂脂鲤族）
Jonny Yepes-Blandón,Diego Almansa-Villa,María José Benítez-Galeano et al.
Jonny Yepes-Blandón et al.
The accurate phylogenetic distinction between Prochilodus magdalenae and Prochilodus reticulatus (Characiformes: Prochilodontidae) has been hindered by overlapping morphology and limited sequence data. Previous studies, relying on partial m...
Correction: A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2 [0.03%]
纠正：通过最小基因测定在NBAS中发现的一种新型剪接变异导致婴儿型肝衰竭综合征2型
Anna Hu,Jun Liang,Hongbo Liu et al.
Anna Hu et al.
[This corrects the article DOI: 10.3389/fgene.2025.1687266.]. Keywords: ILFS2; NBAS; acute liver failure; mi...
Published Erratum
Frontiers in genetics. 2025 Nov 7:16:1722189. DOI:10.3389/fgene.2025.1722189 2025
Identifying gene-environment interactions across genome-wide, twin, and polygenic risk score approaches [0.03%]
基于全基因组、双胞胎和多基因风险评分方法的基因-环境交互作用识别研究
Brad Verhulst
Brad Verhulst
Introduction: Until recently, many researchers have been hesitant to conduct genome-wide gene-environment interaction (GxE) research due to perceptions of low rates of statistical power and skepticism from controversial f...
Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features [0.03%]
病例报告：一名患有自身免疫性脑炎并表现出Phelan-McDermid综合征特征的患者中同时出现的新发SHANK3和SRCAP变异
Li Li,Jie Zhang,Xiaoyan Shi et al.
Li Li et al.
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by a deletion or variant of SHANK3. Patients with PMS typically present with global developmental delay, delayed or absent speech, intellectual disability, hypotoni...
Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome [0.03%]
COL5A1基因的新变异在波兰经典型埃勒斯-丹洛斯综合征患者中的功能分析
Anna Junkiert-Czarnecka,Karolina Maciak,Magdalena M Kacprzak et al.
Anna Junkiert-Czarnecka et al.
Ehlers-Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According to the 2017 International Classification, 13 EDS subtypes are associated with pathogenic variants in 19 genes, mo...