Medicina genómica - Open Access .click

Results 31 to 40 of about 4,845 (133)

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, Volume 67, Issue 7, Page e118-e125, July 2026.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal +5 more
wiley +1 more source

SARS-CoV-2 Genome Variations in Viral Shedding of an Immunocompromised Patient with Non-Hodgkin’s Lymphoma

Viruses, 2023
Background. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causing coronavirus disease 2019 (COVID-19) is the most transmissible ß-coronavirus in history, affecting all population groups.
Rodrigo Villaseñor-Echavarri +10 more
doaj +1 more source

Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract Autosomal dominant Alzheimer's disease (ADAD) represents a small but impactful subset of Alzheimer's cases. Asymptomatic individuals at genetic risk face substantial personal and family implications when considering predictive testing for known familial variants.
Daniel A. Jiménez +26 more
wiley +1 more source

LncRNA SOX9-AS1 triggers a transcriptional program involved in lipid metabolic reprogramming, cell migration and invasion in triple-negative breast cancer

Scientific Reports
At the molecular level, triple-negative breast cancer (TNBC) is frequently categorized as PAM50 basal-like subtype, but despite the advances in molecular analyses, the clinical outcome for these subtypes is uncertain.
Mireya Cisneros-Villanueva +9 more
doaj +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

Movement Disorders, Volume 41, Issue 5, Page 1128-1140, May 2026.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step +680 more
wiley +1 more source

Maternal RSV vaccination for infant protection: A systematic review and meta‐analysis of phase 3 trials with an integrated economic evaluation

International Journal of Gynecology &Obstetrics, Volume 173, Issue 1, Page 63-73, April 2026.
Abstract Background Respiratory syncytial virus (RSV) is a leading cause of hospitalization and mortality in early infancy. Maternal immunization offers a preventive strategy, but uncertainties regarding safety and economic value have limited its implementation.
Johnatan Torres‐Torres +10 more
wiley +1 more source

Expression of long non‐coding RNA ENSG00000226738 (LncKLHDC7B) is enriched in the immunomodulatory triple‐negative breast cancer subtype and its alteration promotes cell migration, invasion, and resistance to cell death

Molecular Oncology, 2019
Triple negative breast cancer (TNBC) represents an aggressive phenotype with poor prognosis compared with ER, PR, and HER2‐positive tumors. TNBC is a heterogeneous disease, and gene expression analysis has identified seven molecular subtypes ...
Fredy Omar Beltrán‐Anaya +15 more
doaj +1 more source

Tn‐seq of Thermus thermophilus Genome Reveals Unexpected Tolerance to Insertions in Bacterial Common Essential Genes

MicrobiologyOpen, Volume 15, Issue 2, April 2026.
Tn‐seq analysis of Thermus thermophilus genome reveals insertions in almost all genes, this is, there is no clear discrimination of essential genes. A similar result has not been reported in other Tn‐seq analysis of bacterial genomes so far. The polyploidy of the Thermus genome could explain the apparent non‐essentiality of key genes.
Cristina L. Gómez‐Campo +6 more
wiley +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
Marllon Cindra Sant'Ana +8 more
wiley +1 more source

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese +14 more
wiley +1 more source

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