Human Genomics最新文献

{"title":"Comprehensive transcriptomics and proteome analysis to identify prognostic risk factors for MYCN non-amplified high-risk neuroblastoma.","authors":"Shan Liu, Zhihong Wang, Jianzhen Shen, Lizhi Li, Yaobin Lin","doi":"10.1186/s40246-026-00973-4","DOIUrl":"https://doi.org/10.1186/s40246-026-00973-4","url":null,"abstract":"<p><strong>Background: </strong>MYCN non-amplified (MYCN-NA) neuroblastoma (NB) demonstrates considerable heterogeneity in both biological and clinical aspects, and its molecular and biological characteristics remain inadequately defined.</p><p><strong>Methods: </strong>A comprehensive multi-omics analysis was performed on transcriptome and proteome data from 20 MYCN-NA NB tissues, including 11 low- and intermediate-risk neuroblastoma (LIR-NB) cases and 9 high-risk neuroblastoma (HR-NB) cases. Additionally, the expression levels and survival prognostic significance of key candidate genes were systematically assessed using public datasets (GSE85047 and TARGET-NB).</p><p><strong>Results: </strong>Transcriptomic analysis revealed 1,955 differentially expressed genes (DEGs), with 899 upregulated and 1,056 downregulated in HR-NB (P < 0.05, |log₂FC| ≥ 1.5). Pathway enrichment analysis based on the Kyoto Encyclopedia of Genes and Genomes identified significant associations of these DEGs with glycolipid metabolism, signal transduction, and transcriptional regulation. Proteomic profiling identified 609 differentially expressed proteins (DEPs), with 24 upregulated and 585 downregulated in HR-NB. These DEPs were predominantly enriched in metabolic pathways, axon guidance, and Rho GTPase signaling. Integrated omics analysis revealed that both mRNA and protein expression of DPEP1 and FILIP1 were co-upregulated in HR-NB, while seven genes-ICA1L, KCNH2, LGI3, FAM184A, INPP5F, NELL2, and VKORC1L1-were co-downregulated. Genes exhibiting consistent changes in both protein and mRNA levels were primarily involved in glycerophospholipid metabolism and regulation of transport. Moreover, the top five genes (ICA1L, KCNH2, LGI3, FAM184A, and INPP5F) with the most significant concurrent changes were further validated for their expression levels and association with survival prognosis in GSE85047 and TARGET-NB datasets. Notably, increased expression of INPP5F and LGI3 correlated with an improvement in overall survival rate (P < 0.05).</p><p><strong>Conclusion: </strong>MYCN-NA HR-NB demonstrates metabolic reprogramming characterized by disorders in glucose and lipid metabolism. Notably, the elevated expression of INPP5F and LGI3 is linked to improved overall survival and may serve as potential therapeutic targets.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A consensus model for implementation of genomics in Queensland Health - a Delphi study.","authors":"Minh Viet Bui, Zoe Fehlberg, Mathilde Desselle, Saras Menon, Senel Idrisoglu, Andrew Mallett, Stephanie Best","doi":"10.1186/s40246-026-00941-y","DOIUrl":"https://doi.org/10.1186/s40246-026-00941-y","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.","authors":"Lulu Wang, Haixin Li, Yuqi Yang, Bin Zhang, Bin Yu","doi":"10.1186/s40246-026-00971-6","DOIUrl":"https://doi.org/10.1186/s40246-026-00971-6","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum ferritin and delirium risk: an integrative genomic analysis of causal inference and multi-tissue regulatory signals.","authors":"Amirhossein Saed, Mahdi Akbarzadeh, Fatemeh Gohari, Nafiseh Asadrouh, Amir Mohammad Jahromizadeh, Hani Sabaie, Maryam Zarkesh, Mehdi Hedayati, Fereidoun Azizi, Maryam Sadat Daneshpour","doi":"10.1186/s40246-026-00972-5","DOIUrl":"https://doi.org/10.1186/s40246-026-00972-5","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift.","authors":"Lang Tian, Jie Mei, Xi Zheng, Hong-Mei Dai","doi":"10.1186/s40246-026-00955-6","DOIUrl":"https://doi.org/10.1186/s40246-026-00955-6","url":null,"abstract":"<p><strong>Backgroud: </strong>Pathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype-phenotype variability persists.</p><p><strong>Results: </strong>In a Chinese four-generation pedigree, two affected males carried a novel NR0B1 frameshift, c.573_576dup4 (p.T193Gfs*13). Segregation showed wild-type fathers and heterozygous carrier mothers, and unaffected male relatives lacked the variant. The duplication shifts the reading frame from residue 193 and introduces a premature stop at residue 205, truncating DAX-1. Pedigree analysis supports NR0B1 c.573_576dup4 (p.T193Gfs*13) as a novel AHC-causing variant.</p><p><strong>Conclusions: </strong>This maternally inherited frameshift underlies AHC in this family, expanding the NR0B1 mutational spectrum and underscoring genetic testing.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions.","authors":"Tychele N Turner","doi":"10.1186/s40246-026-00961-8","DOIUrl":"https://doi.org/10.1186/s40246-026-00961-8","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progranulin genetic variant rs5848 displays ancestry-specific associations with Alzheimer's disease.","authors":"Benjamin E Life, Erick I Navarro-Delgado, Oriol Fornes, Jan M Friedman, Wyeth W Wasserman, Keegan Korthauer, Blair R Leavitt","doi":"10.1186/s40246-026-00958-3","DOIUrl":"https://doi.org/10.1186/s40246-026-00958-3","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147672794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.","authors":"Tingbin Ma, Jinyu Liu, Yuqi Wang, Haibo Zhu, Yihong Qin, Ruizhi Liu, Hongtao Yuan, Baoying Ye, Renyi Hua, Shuyuan Li, Hui Xi, Jian Wang, Niu Li","doi":"10.1186/s40246-026-00966-3","DOIUrl":"https://doi.org/10.1186/s40246-026-00966-3","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147672855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.","authors":"Riman Alafghani, Deema Aljeaid, Noor Ahmad Shaik, Babajan Banaganapalli, Ramu Elango, Ghayah Khard, Wisam Habab, Ghada Jadkarim, Dalal Sameer Alshaer, Mahmoud Almutadares, Nuha Mohammad Alrayes, Noha M Issa","doi":"10.1186/s40246-026-00953-8","DOIUrl":"https://doi.org/10.1186/s40246-026-00953-8","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147662470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia.","authors":"Karolina Cernovska, Sabina Penazova, Kamila Stranska, Jakub Paweł Porc, Patricie Skalakova, Eva Ondrouskova, Tobias Rausch, Jan Svaton, Kristyna Tausova, Natalie Kazdova, Karol Pal, Jakub Hynst, Vladimir Benes, Marie Jarosova, Sarka Pospisilova, Jana Kotaskova, Karla Plevova","doi":"10.1186/s40246-026-00957-4","DOIUrl":"https://doi.org/10.1186/s40246-026-00957-4","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147662452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}