Results 191 to 200 of about 256,848 (381)

Cell type-specific genome scans of DNA methylation divergence indicate an important role for transposable elements [PDF]

, 2020
Önder Kartal, Marc W. Schmid, Ueli Grossniklaus   +2 more
openalex   +1 more source

Highly conserved sequence-specific double-stranded DNA binding networks contributing to divergent genomic evolution of human and chimpanzee brain development [PDF]

arXiv
Emergence during mammalian evolution of concordant and divergent traits of genomic regulatory networks encompassing ubiquitous, qualitatively nearly identical yet quantitatively distinct arrays of sequences of transcription factor binding sites (TFBS) for 716 proteins is reported. A vast majority of TFs (770 of 716; 98%) comprising protein constituents
arxiv  

Towards Neural Knowledge DNA [PDF]

arXiv, 2016
In this paper, we propose the Neural Knowledge DNA, a framework that tailors the ideas underlying the success of neural networks to the scope of knowledge representation. Knowledge representation is a fundamental field that dedicate to representing information about the world in a form that computer systems can utilize to solve complex tasks.
arxiv  

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Role of Retroelements in Frontotemporal Dementia Development

Frontiers in Bioscience-Scholar
Frontotemporal dementia (FTD) develops in proteinopathies involving TDP-43 (transactive response DNA-binding protein 43 kDa), tau, and FUS (fused in sarcoma) proteins, which possess antiviral properties and exert inhibitory effects on human transposable ...
Rustam Nailevich Mustafin
doaj   +1 more source

Population genomics on the fly: recent advances in Drosophila [PDF]

arXiv, 2018
Drosophila melanogaster, a small dipteran of African origin, represents one of the best-studied model organisms. Early work in this system has uniquely shed light on the basic principles of genetics and resulted in a versatile collection of genetic tools that allow to uncover mechanistic links between genotype and phenotype.
arxiv  

Identification of the expressome by machine learning on omics data. [PDF]

, 2019
Accurate annotation of plant genomes remains complex due to the presence of many pseudogenes arising from whole-genome duplication-generated redundancy or the capture and movement of gene fragments by transposable elements.
Briggs, Steven P, Noshay, Jaclyn, Sartor, Ryan C, Springer, Nathan M   +3 more
core   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

DNA methylation changes facilitated evolution of genes derived from Mutator-like transposable elements [PDF]

, 2016
Jun Wang, Yeisoo Yu, Tao Feng, Jianwei Zhang, Dario Copetti, Dave Kudrna, Jayson Talag, Seunghee Lee, Rod A. Wing, Chuanzhu Fan   +9 more
openalex   +1 more source