Article
Psychology, Developmental
Martha L. Cervantes-Henriquez, Johan E. Acosta-Lopez, Ariel F. Martinez, Mauricio Arcos-Burgos, Pedro J. Puentes-Rozo, Jorge I. Velez
Summary: The study found that genes DRD4, SNAP25, and ADGRL3 are associated with ADHD severity and can be used to predict different domains of severe and non-severe ADHD symptoms.
JOURNAL OF ATTENTION DISORDERS
(2022)
Article
Genetics & Heredity
Neta Degani, Yoav Lubelsky, Rotem Ben-Tov Perry, Elena Ainbinder, Igor Ulitsky
Summary: The highly conserved lncRNAs HOXA-AS3 and HOXB-AS3, transcribed antisense to Hox protein-coding genes, play a role in regulating gene expression in the endoderm lineage and during differentiation of human embryonic stem cells. Their expression patterns are similar across vertebrates, suggesting a potential impact on embryonic development in humans.
Article
Pediatrics
Akram Elsadek, Doaa Soliman, Eman Behiry, Salem Deraz
Summary: This study found an association between the LPHN3 gene rs2345039 and ADHD, with individuals carrying the CG and GC genotypes being more susceptible to developing ADHD. This suggests that the LPHN3 gene may play a key role in triggering and exacerbating ADHD.
EGYPTIAN PEDIATRIC ASSOCIATION GAZETTE
(2022)
Article
Cell Biology
Ricardo A. DeMoya, Rachel E. Forman-Rubinsky, Deon Fontaine, Joseph Shin, Simon C. Watkins, Cecilia W. Lo, Michael Tsang
Summary: This study reveals the role of zebrafish sap130a gene in heart development, specifically in the formation and maturation of the ventricle. It highlights the importance of sap130a in regulating the accretion of cells to the growing ventricle and their subsequent maturation for cardiac function. Furthermore, it demonstrates an interaction between sap130a and hdac1 in the incidence of small ventricles.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Genetics & Heredity
Sean Whalen, Katherine S. Pollard
Summary: Human accelerated regions (HARs) are the fastest-evolving sequences in the human genome and play important roles in neurodevelopment as gene regulatory enhancers. Quantitative measurement of enhancer activity and analysis of nucleotide contributions to gene expression have revealed functional differences between human HAR sequences and their chimpanzee orthologs, with compensatory substitutions observed at individual nucleotide level.
ANNUAL REVIEW OF GENETICS
(2022)
Article
Neurosciences
Monica S. Carbajal, Asiah J. C. Bounmy, Olivia B. Harrison, Hunter G. Nolen, Samantha L. Regan, Michael T. Williams, Charles V. Vorhees, Helen J. K. Sable
Summary: Impulsive choice was examined in rats with Lphn3 deletion and spontaneously hypertensive rats (SHRs) using a delay-discounting task. Only SHRs showed a decrease in choosing the larger reward. There was no effect of Lphn3 deletion on impulsive choice.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biology
Dylan J. M. Bergen, Qiao Tong, Ankit Shukla, Elis Newham, Jan Zethof, Mischa Lundberg, Rebecca Ryan, Scott E. Youlten, Monika Frysz, Peter I. Croucher, Gert Flik, Rebecca J. Richardson, John P. Kemp, Chrissy L. Hammond, Juriaan R. Metz
Summary: Dermal scales possess a strong osteogenic expression profile similar to bone, enriched in genes favoring collagen matrix growth. Despite differences in developmental processes between scale and endoskeleton, zebrafish scales express a subset of evolutionarily conserved genes relevant to human skeletal diseases.
Article
Psychiatry
Barbara D. Fontana, Florian Reichmann, Ceinwen A. Tilley, Perrine Lavlou, Alena Shkumatava, Nancy Alnassar, Courtney Hillman, Karl aegir Karlsson, William H. J. Norton, Matthew O. Parker
Summary: Externalizing disorders (ED) are a public health concern and have a high heritability. The ADGRL3 gene is strongly associated with EDs and affects various ED-related behaviors. This study found that adgrl3.1(-/-) zebrafish exhibited impulsive, risk-taking, attention deficits, and hyperactive behaviors, which could be rescued by atomoxetine. Transcriptomic analysis revealed potential functional pathways and targets for the treatment of ED.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Oncology
Ali S. Ropri, Rebecca S. DeVaux, Jonah Eng, Sridar Chittur, Jason Herschkowitz
Summary: Increased breast cancer screening has led to a rise in DCIS diagnosis, emphasizing the need to identify factors influencing DCIS progression to IDC. SE-lncRNAs, which can regulate nearby gene expression, represent novel therapeutic targets. Integrative analysis and cross-referencing with databases revealed differential expression of SE-lncRNAs and alterations in super-enhancers associated with breast cancer progression.
BREAST CANCER RESEARCH
(2021)
Article
Genetics & Heredity
Jesus-Jose Ferre-Fernandez, Sanaa Muheisen, Samuel Thompson, Elena Semina
Summary: FOXC1 is a transcription factor associated with various ocular disorders. Its correct dosage is crucial for normal development, but the mechanisms regulating its expression are still unknown. This study used CRISPR-Cas9 to analyze the genomic sequences surrounding two zebrafish orthologs of FOXC1. The results showed that the deletion of downstream sequences affected the expression of foxc1a and led to abnormal phenotypes. Deletions of distant upstream elements influenced the expression of neighboring gene clusters, while the removal of intergenic sequences reduced the expression of foxc1a or foxc1b. Further studies in humans may provide insights into developmental ocular disorders.
Article
Genetics & Heredity
Martin H. Maurer, Anja Kohler, Melanie Hudemann, Jerome Jungling, Saskia Biskup, Martin Menzel
Summary: This article reports the finding of two copy number variants in a boy with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). One of the variants is located in the ADGRL3 gene, which is the first association of this gene with ASD in humans.
APPLICATION OF CLINICAL GENETICS
(2022)
Article
Mathematical & Computational Biology
John Anders, Peter F. Stadler
Summary: Differentiating regions with coding potential from non-coding regions is an important task in computational biology. RNAcode, a method that utilizes sequence conservation patterns, shows superior classification accuracy for short coding sequences compared to methods that rely on a single input sequence. However, obtaining suitable multiple sequence alignments can be tedious and challenging. To address this, a new web service called RNAcode_Web is introduced, which automates the process of collecting, selecting, and preparing homologous sequences from the NCBI database and constructing multiple sequence alignments needed for RNAcode input. This service simplifies the investigation of previously unannotated coding regions for non-expert users.
JOURNAL OF INTEGRATIVE BIOINFORMATICS
(2023)
Article
Psychology, Developmental
M. L. Cervantes-Henriquez, J. E. Acosta-Lopez, M. L. Martinez-Banfi, J. Velez, E. Mejia-Segura, S. G. Lozano-Gutierrez, M. Sanchez-Rojas, M. A. Zurbaran, E. E. Zurek, M. Arcos-Burgos, D. A. Pineda, P. J. Puentes-Rozo
JOURNAL OF ATTENTION DISORDERS
(2020)
Article
Neurosciences
Jorge I. Velez, Francisco Lopera, Penelope K. Creagh, Laura B. Pineros, Debjani Das, Martha L. Cervantes-Henriquez, Johan E. Acosta-Lopez, Mario A. Isaza-Ruget, Lady G. Espinosa, Simon Easteal, Gustavo A. Quintero, Claudia Tamar Silva, Claudio A. Mastronardi, Mauricio Arcos-Burgos
MOLECULAR NEUROBIOLOGY
(2019)
Editorial Material
Neurosciences
Mauricio Arcos-Burgos, Francisco Lopera, Diego Sepulveda-Falla, Claudio Mastronardi
Review
Medicine, General & Internal
Mateo Cortes Rivera, Claudio Mastronardi, Claudia T. Silva-Aldana, Mauricio Arcos-Burgos, Brett A. Lidbury
Article
Neurosciences
Jorge I. Velez, Francisco Lopera, Claudia T. Silva, Andres Villegas, Lady G. Espinosa, Oscar M. Vidal, Claudio A. Mastronardi, Mauricio Arcos-Burgos
MOLECULAR NEUROBIOLOGY
(2020)
Article
Anatomy & Morphology
Theresa Schredelseker, Wolfgang Driever
FRONTIERS IN NEUROANATOMY
(2020)
Article
Genetics & Heredity
Markus Westphal, Pooja Sant, Alexander-Thomas Hauser, Manfred Jung, Wolfgang Driever
FRONTIERS IN GENETICS
(2020)
Article
Neurosciences
Theresa Schredelseker, Florian Veit, Richard Dorsky, Wolfgang Driever
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Neurosciences
Martha Martinez-Banfi, Jorge Velez, Moises R. Mebarak Chams, Mauricio Arcos-Holzinger, Johan E. Acosta-Lopez, Ricardo Garcia, Maria Victoria Perea, Mauricio Arcos-Burgos, Valentina Ladera
Summary: The study evaluated the performance of a short protocol for detecting HIV-associated neurocognitive disorders (HAND), showing promising results in a Caribbean community. Community-specific cut-off values for HAND diagnosis may improve screening accuracy and patient treatment.
Article
Endocrinology & Metabolism
Mikkel Bloss Carstensen, Adar Medvetzky, Alon Weinberger, Wolfgang Driever, Yoav Gothilf, Martin Fredensborg Rath
Summary: The pineal gland plays a crucial role in the production of melatonin and regulation of circadian rhythms. Bsx, a transcription factor, is essential for the development and function of the pineal gland. Loss of Bsx leads to morphological changes in the pineal gland and disruptions in circadian behavior.
JOURNAL OF PINEAL RESEARCH
(2022)
Article
Genetics & Heredity
Liliana Elizabeth Rodriguez-Salgado, Claudia Tamar Silva-Aldana, Esteban Medina-Mendez, Jose Bareno-Silva, Mauricio Arcos-Burgos, Daniel Felipe Silgado-Guzman, Carlos M. Restrepo
Summary: This study aimed to determine the prevalence of secondary findings (SF) in a Colombian population for 59 genes associated with 27 genetic diseases. The results showed that 8.13% of patients had pathogenic variants in 11 genes. No association was found between socio-demographic variables and the need to report SF. This study provides the first approach to the spectrum of actionable pathogenic variants in the Colombian population.
Article
Multidisciplinary Sciences
Oscar M. Vidal, Jorge I. Velez, Mauricio Arcos-Burgos
Summary: Attention deficit/hyperactivity disorder (ADHD) is a common childhood neurodevelopmental disorder. This study examined the impact of non-synonymous SNPs in the ADGRL3 gene on ADHD development. The findings suggest that these mutations disrupt the normal structure of ADGRL3 and may affect its metabolic regulation, potentially linking ADHD to the pathogenesis of diabetes mellitus.
SCIENTIFIC REPORTS
(2022)
Article
Developmental Biology
Christian Sigloch, Dominik Spitz, Wolfgang Driever
Summary: Neural proliferation zones employ Delta/Notch signaling and HES/Her transcription factors to balance NSC maintenance and progenitor/neuron generation. In the thalamic proliferation zone of zebrafish larvae, nine Notch-dependent her genes and two Notch-independent her genes are differentially expressed, regulating NSC and progenitor populations. Among them, her6 plays a prominent role in maintaining NSCs and inhibiting NSC-to-progenitor lineage transitions. The redundancy and cross-regulation in the her gene network contribute to the robustness of NSC maintenance.
Article
Genetics & Heredity
Yina D. Carrillo, Paula Rueda-Gaitan, Orlando Gualdron, Carlos Estrada-Serrato, Taryn A. Castro-Cuesta, Olga Londono, Luna Rodriguez-Salazar, Mario Isaza-Ruget, Mauricio Arcos-Burgos, Juan Javier Lopez Rivera
Summary: Copy number variants (CNVs) are a major cause of neurodevelopmental delay and congenital malformations, and chromosomal microarray analysis (CMA) is the gold standard for molecular characterization of CNVs. We applied CMA in the clinical diagnostic process of patients as requested by their medical provider. Among 3380 patients, we identified 830 CNVs with potential clinical significance, and 10.6% of them were most likely the final cause of the patients' clinical phenotype. The rate of pathogenic or likely pathogenic findings among patients with CNVs was 60.75% for neurodevelopmental phenotypes and 59% for epileptic phenotypes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
William Bonadio, Kevin Molyneux, Elyse Lavine, Kaedrea Jackson, Alexander Kagen, Eric Legome
Summary: The study aimed to identify the efficacy of clinical factors in recognizing renal insufficiency risk in ED patients needing IVCE-CT and to reduce the potential for developing CIN. Review of ED patients who received IVCE-CT found that the majority with elevated SCr had underlying medical conditions compromising renal function, making routine SCr measurement for all ED patients prior to IVCE imaging unnecessary.
EMERGENCY RADIOLOGY
(2021)
Review
Neurosciences
Maya Jammoul, Dareen Jammoul, Kevin K. Wang, Firas Kobeissy, Ralph G. Depalma
Summary: This article reviews the possible mechanisms by which traumatic brain injury (TBI) may stimulate the development of opioid use disorder (OUD) and discusses the interaction between these two processes. CNS damage due to TBI appears to drive adverse effects of subsequent OUD, with pain being a risk factor for opioid use after TBI.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Danusa Mar Arcego, Jan-Paul Buschdorf, Nicholas O'Toole, Zihan Wang, Barbara Barth, Irina Pokhvisneva, Nirmala Arul Rayan, Sachin Patel, Euclides Jose de Mendonca Filho, Patrick Lee, Jennifer Tan, Ming Xuan Koh, Chu Ming Sim, Carine Parent, Randriely Merscher Sobreira de Lima, Andrew Clappison, Kieran J. O'Donnell, Carla Dalmaz, Janine Arloth, Nadine Provencal, Elisabeth B. Binder, Josie Diorio, Patricia Pelufo Silveira, Michael J. Meaney
Summary: This study investigates the impact of environmental influences on mental health by integrating transcriptomic data from animal models with human data. The results suggest that hippocampal glucocorticoid-related transcriptional activity mediates the effects of early adversity on neural mechanisms implicated in psychiatric disorders.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Milenna T. van Dijk, Ardesheer Talati, Pratik Kashyap, Karan Desai, Nora C. Kelsall, Marc J. Gameroff, Natalie Aw, Eyal Abraham, Breda Cullen, Jiook Cha, Christoph Anacker, Myrna M. Weissman, Jonathan Posner
Summary: This study found that maternal stress is associated with future depressive symptoms and alterations in microstructure of the dentate gyrus (DG) in offspring. These results were consistent across two independent cohorts.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Josephine C. McGowan, Liliana R. Ladner, Claire X. Shubeck, Juliana Tapia, Christina T. LaGamma, Amanda Anqueira-Gonzalez, Ariana DeFrancesco, Briana K. Chen, Holly C. Hunsberger, Ezra J. Sydnor, Ryan W. Logan, Tzong-Shiue Yu, Steven G. Kernie, Christine A. Denny
Summary: Traumatic brain injury (TBI) leads to fear generalization by altering fear memory traces, and this symptom can be improved with (R,S)-ketamine.
BIOLOGICAL PSYCHIATRY
(2024)