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IntroductionSjögren’s disease (SjD) is a chronic autoimmune disorder characterized by dry mouth (xerostomia) and dry eyes (xerophthalmia) due to inflammation in exocrine glands, particularly the salivary and lacrimal ...

الملخص: أهداف البحث: تم التعرف على ما لا يقل عن 500 شكل جيني متعدد مرتبط بإنزيمي CYP2C19 وCYP2C18، إلا أن عددا قليلا من هذه الأشكال...

Abstract Since age-related macular degeneration (AMD) is the leading cause of irreversible central vision loss in the aging population, it is a significant global health concern. Although anti-vascular endothelial growth...

Abstract Background Telomere length (TL), a biomarker of biological aging, but its association with Alzheimer’s disease (AD) remains unclear. Methods We estimated TL in whole-genome sequencing data from 35,014 Alzheime...

Abstract While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood. Here, we ...

High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants. To fill these u...

Abstract Background Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder associated with vitamin E deficiency. In humans, polymorphisms in genes invol...

Abstract Whole-genome sequencing (WGS) of morphology-selected sperm pools provides an exploratory approach for investigating genomic features associated with variable sperm quality. In this study, pooled DNA from 1500 in...

Multiple myeloma (MM) is best understood as a dynamically evolving genomic ecosystem shaped by inherited susceptibility, early oncogenic events, and continuous selective pressures. We propose an evolutionary genomics fra...

Abstract Background Antenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic e...

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...

BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic variants in the ATM gene and characterized by genomic instability, immunodeficiency, and a markedly increased risk of canc...

Abstract Background Autoimmune conditions are common in women of reproductive age. They are associated with an increased risk of adverse pregnancy outcomes; whether this is causal is unclear. Our aim was to explore the c...

Abstract Background Breast cancer prognosis is the result of complex interactions between tumor biology, treatment, and host factors. While germline genetic variation is increasingly incorporated into breast cancer risk ...

BackgroundCurrent genetic risk stratification systems for acute myeloid leukemia (AML), including the 2017 European Leukemia Network (ELN), 2022 ELN, and 2023 China (CN) stratifications, inconsistently categorize key gen...

Methotrexate (MTX) is a crucial chemotherapy drug often associated with various adverse effects. Predicting the frequency and severity of these side effects poses a challenge, as they can vary significantly among individ...

Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been...

Abstract The global distribution and frequency of maturity onset diabetes of the young (MODY) vary, necessitating investigation across diverse ethnic groups. This study aimed to investigate MODY gene variants and phenoty...

Pharmacogenetics has redefined the understanding of antidepressant response by demonstrating that genetic variability profoundly influences both drug efficacy and safety. This review synthesizes current evidence on the i...

Background Breast cancer is a leading cause of cancer-related mortality worldwide, with hereditary forms accounting for approximately 10% of cases. In Chile, significant gaps exist in genetic counseling and testing, part...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Xue Yu,1,* Min Wu,2,* Lei Liu,3 Chun Zhang1 1Department of Breast Surgery, Peking University International Hospital, Beijing, People’s Republic of China; 2Department of Breast & Thyroid Surgery, Bei...