Selena Aranda
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View article: Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy
Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy Open
Synaptic Ras GTPase-Activating Protein 1 (SynGAP) is a key regulator of synaptic plasticity, neurodevelopment, and neuronal circuit function. It is encoded by the SYNGAP1 gene, in which de novo dominant pathogenic variants are a major caus…
View article: Multi-ancestry genome-wide association study of endometriosis and its clinical manifestations in ~1.4 million women: translating gene discovery into pathogenic mechanisms and therapeutic targets
Multi-ancestry genome-wide association study of endometriosis and its clinical manifestations in ~1.4 million women: translating gene discovery into pathogenic mechanisms and therapeutic targets Open
We conducted a multi-ancestry genome-wide association study of endometriosis and adenomyosis in almost 1.4 million women, including 105,869 cases, aiming to expand endometriosis loci discovery across ancestries, dissect symptom-specific ef…
Common genetic variants contribute to heritability of age at onset of schizophrenia Open
Schizophrenia (SCZ) is a complex disorder that typically arises in late adolescence or early adulthood. Age at onset (AAO) of SCZ is associated with long-term outcomes of the disease. We explored the genetic architecture of AAO with a geno…
Common genetic variants contribute to heritability of age at onset of schizophrenia Open
Schizophrenia (SCZ) is a complex disorder that typically arises in late adolescence or early adulthood. Age at onset (AAO) of SCZ is associated with long-term outcomes of the disease. We explored the genetic architecture of AAO with a geno…
DDR1 and Its Ligand, Collagen IV, Are Involved in In Vitro Oligodendrocyte Maturation Open
Discoidin domain receptor 1 (DDR1) is a tyrosine kinase receptor expressed in epithelial cells from different tissues in which collagen binding activates pleiotropic functions. In the brain, DDR1 is mainly expressed in oligodendrocytes (OL…
Coexpression of the discoidin domain receptor 1 gene with oligodendrocyte‐related and schizophrenia risk genes in the developing and adult human brain Open
Background Discoidin domain receptor tyrosine kinase 1 (DDR1) is present in multiple types of epithelial cells and is highly expressed in the nervous system. Previous studies have revealed that DDR1 is involved in schizophrenia (SCZ). Alth…
A systematic review on genome-wide association studies exploring comorbidity in bipolar disorder Open
Background: The comorbidities associated with bipolar disorder (BD) can worsen patients’ prognosis and increase economic costs to society. Currently, efforts are being made to identify new endophenotypes characterized by the presence of BD…