Results 161 to 170 of about 25,975 (254)

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Integrative HLA typing of tumor and adjacent normal tissue can reveal insights into the tumor immune response. [PDF]

BMC Med Genomics
Sverchkova A, Burkholz S, Rubsamen R, Stratford R, Clancy T.   +4 more
europepmc   +1 more source

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes. [PDF]

Eur J Hum Genet, 2020
Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS.   +4 more
europepmc   +1 more source

The importance of gene polymorphism in familial inheritance of endometriosis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik, Candan Eker, Berivan Guzelbag, Ercan Bastu, Tuba Gunel   +4 more
wiley   +1 more source

Evaluation the frequencies of HLA alleles in moderate and severe COVID-19 patients in Iran: A molecular HLA typing study. [PDF]

Heliyon
Abolnezhadian F, Iranparast S, Shohan M, Shokati Eshkiki Z, Hamed M, Seyedtabib M, Nashibi R, Assarehzadegan MA, Mard SA, Shayesteh AA, Neisi N, Makvandi M, Alavi SM, Shariati G.   +13 more
europepmc   +1 more source

Cysteine Peptidases in Antitumor Immunity: Unraveling Antigen‐Presenting Cell Regulation and Therapeutic Potential

iMetaMed, EarlyView.
This review systematically summarizes the central role of cysteine peptidases in modulating antigen‐presenting cell (APC) function and antitumor immune responses, highlighting their critical significance in overcoming tumor immune evasion. Current research has established that cysteine peptidase subtypes, including cathepsins B, S, L, and X, exert ...
Yimao Wu, Xiaoyan Chen, Zichang Chen, Yalun Liang, Gokhan Zengin, Qian Zhang, Wenlong Sun, Meng‐Yao Li   +7 more
wiley   +1 more source

Multifactorial determinants of NK cell repertoire organization: insights into age, sex, KIR genotype, HLA typing, and CMV influence. [PDF]

Front Immunol
Ferron E, David G, Willem C, Legrand N, Salameh P, Anquetil L, Walencik A, Gendzekhadze K, Gagne K, Retière C.   +9 more
europepmc   +1 more source

Gene expression signatures from single‐cell transcriptomics predict Sjögren's syndrome

iMetaOmics, EarlyView.
A machine learning‐based 12‐gene signature (SjS.Sig) was developed from scRNA‐seq data of PBMCs from Sjögren's syndrome patients. The model was validated using bulk RNA‐seq datasets and further confirmed through flow cytometry and qPCR analysis in an independent clinical cohort, demonstrating robust diagnostic potential.
Shumin Cheng, Ling Yan, Yilin Wu, Yan Li, Ziheng Ye, Zhen Zhang, Yi Zhang, Jingyun Ma, Yuhong Liang, Zhaofan Luo, Huacheng Wang, Meili Gao, Chao Qin, Ke Zhu, Yun Leng, Kamran Ullah, Jun Liang, Haiyan Yan, Guan Yang, Yingqian Mo, Bihui Huang   +20 more
wiley   +1 more source

HLA*LA-HLA typing from linearly projected graph alignments. [PDF]

Bioinformatics, 2019
Dilthey AT, Mentzer AJ, Carapito R, Cutland C, Cereb N, Madhi SA, Rhie A, Koren S, Bahram S, McVean G, Phillippy AM.   +10 more
europepmc   +1 more source