Recent Articles

Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

September 2025

Gonzalo P. Solis | Federica Rachele Danti | Yonika A. Larasati | Federica Graziola | Carolina Croci | Elisa Osanni | Alexey Koval | Giovanna Zorzi | Vladimir L. Katanaev

RNA-seq identifies Amd1 as a regulator of hepatocyte proliferation via Skp2 during liver development and hepatocellular carcinoma progression in zebrafish

September 2025

Ke Zhang | Botong Li | Zhiling Deng | Yong Dong | Yuanyuan Li | Bingyu Chen | Mao Lu | Liyan Wang | Xingdong Liu | Zhenhua Guo | Sizhou Huang

Establishment and characterization of an induced pluripotent stem cell line from a Japanese cystic fibrosis patient with homozygous 1540del10 CFTR mutation

September 2025

Hitoshi Okumura | Mikio Hayashi | Hiromi Yamashita | Fumiyuki Hattori

New genetic insights into HIV-associated neurocognitive disorder and Alzheimer's disease

September 2025

Hai Duc Nguyen | Woong-Ki Kim

Otof gene transfer in DFNB9 mice carrying human founder non-truncating alleles

September 2025

Yehree Kim | Yoojin Chung | Ju Ang Kim | Kyu Hee Han | Kwon Woo Kang | Ngoc-Trinh Tran | Min Young Kim | Eunyoung Yi | Sangyong Jung | Bong Jik Kim | Quynh-Anh Artinian | Seth D. Koehler | Ning Pan | Tyler M. Gibson | Lars Becker | Joseph W. Goodliffe | Molly Kalker | Madeline Barnes | Luke A. Shaheen | Meghan C. Drummond | Vassili Valayannopoulos | Byung Yoon Choi

Gene-based safety evaluation of molybdenum-containing biomaterials for cardiovascular and cerebrovascular diseases

September 2025

Yang Zhang | Yunong Shen | Miaowen Jiang | Guiyou Liu | Hongkang Zhang | Baoying Song | Yufeng Zheng | Xunming Ji | Ming Li

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency

September 2025

Feng Ding | He Zhang | Xiangxiang Liu | Lin Lei | Hongyi Zhang | Zhichao Liu | Mutong Fang | Shuihua Lu

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy

September 2025

Alessio Marinelli | Giuliana Longo | Vincenzo Cirigliano | Esther Campopiano | Clementina Dugo | Luca Ghiselli | Andrea Chiampan | Gianluca Ferri | Alessandro Costa | Stefano Bonapace | Laura Lanzoni | Giulio Molon

Integrating spatial transcriptomics and single-cell RNA-sequencing reveals epithelial cell alterations in benign prostatic hyperplasia following finasteride treatment

September 2025

Yanting Shen | Xiawei Fei | Liyang Dai | Ting Zhu | Jican Liu | Zhenqi Wu | Huan Xu | Huifeng Li | Zhong Wang

HOPX inhibits skin cutaneous melanoma growth and induces macrophage M1 polarization

September 2025

Xiwen Zhang | Song He | Qing Zhang | Zhonghao Ji | Jianze Zheng | Luyao Cui | Bao Yuan | Jian Chen | Yu Ding

Identifying functional subtypes and common mechanisms of rheumatoid arthritis and systemic lupus erythematosus

September 2025

Jiajun Li | Hao Tang | Zhenwei Shang | Rui Chen | Xin Meng | Xiangshu Cheng | Zerun Song | Shuai Li | Ruijie Zhang | Wenhua Lv

Gene jigsaw: Decrypting the CPAMD8 puzzle in Chinese patients with anterior segment dysgenesis

September 2025

Yan Liu | Yinuo Wen | Linghao Song | Xinyue Wang | Min Zhang | Zexu Chen | Zhangrui Chen | Nan Yang | Tianhui Chen | Yongxiang Jiang

Glial subtype-specific modulation of disease pathogenesis in Drosophila models of ALS

September 2025

Yanan Wei | Hayong Rhee | Hadi Najafi | Shane Blair | Nam Chul Kim | Woo Jae Kim

Sirolimus may improve bile excretion in ABCB11 mutants: A case report of a patient with bile salt export pump deficiency

September 2025

Tao Zeng | Jiahui Pang | Yutian Chong | Guofang Tang | Yingying Liao | Xianghao Cai | Xiaolong Xiao | Yibo Zhang | Shuru Chen | Xinhua Li

Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics

September 2025

Hui-Qi Qu | Joseph T. Glessner | Charlly Kao | Hakon Hakonarson

A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders

September 2025

Meng Ao | Shunxiang Zhang | Yun Ouyang | Shucong Li | Heqian Ma | Meizhen Guo | Xuelin Dai | Qianhui Xia | Xiaoying Zhang

Zinc finger transcription factor ZNF24 inhibits colorectal cancer growth and metastasis by suppressing MMP2 transcription

September 2025

Shuo Tian | Xia Chen | Jianzhong Li

A novel oridonin analogue, CYD0682, suppresses breast cancer growth, angiogenesis, and metastasis by inhibiting the ANGPTL4/MAPK signaling axis

September 2025

Xiaobin Mai | Le Wang | Juan Tu | Jialin Li | Jun Li | Yaping Zhan | Pei Tang | Ying Wang | Yan Wang | Lingyun Zheng | Qianqian Zhang | Jiangchao Li | Xiong Li | Lijing Wang | Jia Zhou | Cuiling Qi

Transcriptomic characterization of posterior capsule, anterior capsule, and femoral condylar tissue highlights tissue-specific microenvironments in knee osteoarthritis

September 2025

Odette Laneuville | Daniel Stratis | Guy Trudel | Robert Feibel | T Mark Campbell

TET1: The epigenetic architect of clinical disease progression

September 2025

Keyvan Jabbari | Ali Khalafizadeh | Mahboubeh Sheikhbahaei | Hossein Soltaninejad | Sadegh Babashah

The ten-eleven translocation 1 (TET1) protein, a member of the human α-ketoglutarate-dependent dioxygenase TET family, functions as a 5-methylcytosine hydroxylase with a strong affinity for genomic...

Ribosome biogenesis: A central player in liver diseases

September 2025

Wei Luo | Jing Zhou | Yongmin Yan | Xuezhong Xu

Ribosome biogenesis is a multi-step process that initiates within the nucleolus, terminates in the cytoplasm, and determines the rate of protein synthesis. Ribosome biogenesis is essential for maintaining...

Dermal T cell immunity and key regulatory signaling pathways: Implications in immune-mediated alopecia and hair regeneration

September 2025

Nana Tao | Qingru Sun | Yuyuan Ying | Yitao Wang | Jianli Gao

Mammalian hair follicles undergo periodic regeneration, with recent research highlighting the immunological niche as a critical regulator of stem cell activity and hair follicle regeneration. Chemotactic...

Landscape of metabolic alterations and treatment strategies in breast cancer

September 2025

Xiujuan Wu | Xuanni Tan | Yangqiu Bao | Wenting Yan | Yi Zhang

Breast cancer, the most prevalent cancer in women, poses a significant threat to their health. One of the prominent characteristics of malignant transformation in breast cancer cells is metabolic reprogramming,...