Results 131 to 140 of about 156,383 (305)

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Population dynamics of potentially harmful haplotypes: a pedigree analysis [PDF]

2024 Acuerdos transformativos CRUEBackground: The identification of low-frequency haplotypes, never observed in homozygous state in a population, is considered informative on the presence of potentially harmful alleles (candidate alleles), putatively ...
Arias, Katherine D., Goyache Goñi, Félix, Gutiérrez García, Juan Pablo, Álvarez, Isabel, Fernández, Iván   +4 more
core   +1 more source

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

DPYD and UGT1A1 Genotype‐Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant‐Specific Impact on Treatment Intensity and Toxicity

International Journal of Cancer, EarlyView.
Pre‐treatment DPYD and UGT1A1 genotyping is increasingly used to prevent fluoropyrimidine‐ and irinotecan‐related toxicity, but variant‐specific real‐world effects remain unclear. In an unselected cohort of cancer patients with actionable genotypes, genotype‐driven dosing improved safety while preserving treatment exposure in high‐risk DPYD c.1905+1G>A
Martina Gambron, Elena Peruzzi, Samantha Perfler, Marcella Montico, Riccardo Cecchin, Elena De Mattia, Michele Spina, Camilla Lisanti, Serena Corsetti, Luisa Foltran, Fabio Puglisi, Rossana Roncato, Erika Cecchin   +12 more
wiley   +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

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

A pan‐genome framework for exploiting germplasm diversity and structural variation in rose breeding

iMetaOmics, EarlyView.
The urgent need for diverse rose cultivars requires better use of germplasm resources. Zhang et al. generated a rose pan‐genome from 26 accessions, revealing structural variation and introgression linked to flowering, double flowers, and petal color, providing a valuable resource for molecular rose breeding.
Abdelhafid Bendahmane
wiley   +1 more source

A Tripartite Model for EBV‐Driven Multiple Sclerosis: B Cell Survival, Altered Self‐Presentation, and HLA‐DR15‐Restricted T Cell Cross‐Reactivity

iNew Medicine, EarlyView.
ABSTRACT This commentary integrates findings from three recent Cell reports to establish a unified mechanistic model of multiple sclerosis (MS) driven by the interplay between Epstein‐Barr virus (EBV) and the HLA‐DR15 genotype. EBV promotes CNS autoimmunity through three distinct but intersecting mechanisms.
Fang Zhu, Arnaud John Kombe Kombe, Tengchuan Jin   +2 more
wiley   +1 more source

Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L−MYB. Pilot study [PDF]

Objective/Background. Sickle cell disease (SCD) is a monogenic disease with a highly variable phenotype depending on the amount of fetal hemoglobin (HbF), the main modulator. Variation of HbF levels among patients is genetically regulated. HbF determines
Villegas Martínez, Ana, Benavente, Celina, Peral, Miriam, Sánchez Martínez, Luis Javier, Rochas, Sara, Gómez Álvarez, Miguel, Nieto, Jorge M., González, Fernando A., Ropero, Paloma   +8 more
core   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source