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Materias / palabras clave: Science: Biology (General): Genetics

Materias / palabras clave: Science: Biology (General): Genetics

Materias / palabras clave: Medicine: Medicine (General); Science: Biology (General): Genetics

Materias / palabras clave: genetics, genomics, epigenetics, genetic disorders, pharmacogenomics; Science: Biology (General): Genetics

Materias / palabras clave: genetics, genomics, inborn errors of metabolism, sequencing technology; Science: Biology (General): Genetics

Materias / palabras clave: population genetics, functional genetics, genetic disease, pharmacogenetics; Medicine: Medicine (General); Science: Biology (General): Genetics

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...

Kai Chen,1,* Yiqing Nong,1,* Ying Liu,2 Ziming Ye3 1Department of Neurology, Guangxi Medical University Kaiyuan Langdong Hospital, Nanning, 530023, People’s Republic of China; 2Department of Rehabilitat...

Pulmonary hypertension (PH) is a severe cardiopulmonary disorder characterized by pulmonary vascular remodeling, which leads to increased pulmonary vascular resistance (PVR), right ventricular (RV) hypertrophy, and ultim...

Materias / palabras clave: Science: Biology (General): Genetics; Science: Biology (General): Cytology

Materias / palabras clave: Medicine: Medicine (General); Science: Biology (General): Genetics

Pancreatitis is a heterogeneous inflammatory disorder comprising both acute and chronic forms, with pathogenesis driven by interactions among genetic susceptibility, metabolic factors, inflammatory signaling, and disrupt...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Abstract Background The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1E321G mutation in Quarter Horses and related breeds (QH) remain poorly understood. Hypo...

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...

Introduction and aims: Submucous cleft palate (SMCP) is a congenital craniofacial malformation. While TBX22 is a known pathogenic gene, the potential role of TBX15 in SMCP remains unclear. This study aimed to investigate...

BackgroundMutations in the PLA2G6 gene cause a spectrum of neurodegenerative disorders, with autosomal recessive early-onset Parkinson’s disease (AREP) and dystonia-parkinsonism (DP) representing the two primary subtyp...

Abstract Background Sudden Infant Death Syndrome (SIDS) remains a leading cause of infant mortality worldwide, yet its underlying mechanisms are largely unknown. SIDS etiology is complex and involves the interplay betwee...

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 Clinical text de-identification enables the use of electronic health records while protecting patient privacy, but public training data remain scarce and often have mismatched documentation styles. Recent works ...

Abstract Background Alcohol use disorder (AUD) represents a tremendous societal burden, yet few efficacious therapies are available and widely used. Pre-clinical and human observational data support fibroblast growth fac...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundThe research on human microbiota-associated (HMA) animal models is an important tool for studying the human microbiome and holds great potential for elucidating disease mechanisms and microbe-based therapeutic ...