Results 121 to 130 of about 1,193,636 (302)

Sparse whole-genome sequencing identifies two loci for major depressive disorder. [PDF]

, 2015
Major depressive disorder (MDD), one of the most frequently encountered forms of mental illness and a leading cause of disability worldwide, poses a major challenge to genetic analysis.
CONVERGE consortium
core   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Fusion of High Mobility Group AT-hook 2 Gene (HMGA2) With the Chromosome 12 Open Reading Frame 42 Gene (C12orf42) in an Aggressive Angiomyxoma With del(12)(q14q23) as the Sole Cytogenetic Anomaly. [PDF]

Cancer Genomics Proteomics, 2022
Panagopoulos I, Gorunova L, Andersen K, Lobmaier I, Micci F, Heim S.   +5 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Advancing Research on Biomaterials and Biological Materials with Scanning Electron Microscopy under Environmental and Low Vacuum Conditions

Advanced Engineering Materials, EarlyView.
Herein, environmental scanning electron microscopy (ESEM) is discussed as a powerful extension of conventional SEM for life sciences. By combining high‐resolution imaging with variable pressure and humidity, ESEM allows the analysis of untreated biological materials, supports in situ monitoring of hydration‐driven changes, and advances the functional ...
Jendrian Riedel, Lea Dierker, Antoine Eyram Kwame, Kim Nora Wagner, Jonas J. Unterholzner, Jan‐Henning Dirks, Dorothea Brüggemann   +6 more
wiley   +1 more source

Whole Genome Sequencing Reveals Multiple Linked Genetic Variants on Canine Chromosome 12 Associated with Risk for Symmetrical Lupoid Onychodystrophy (SLO) in the Bearded Collie. [PDF]

Genes (Basel), 2021
Gershony LC, Belanger JM, Hytönen MK, Lohi H, Oberbauer AM.   +4 more
europepmc   +1 more source

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker, Andrew Benner, Garry Cutting, Kevin Richter, Khanh-Ha Nguyen, Paul Brezina, Raymond Anchan, Ric Ross, William Kearns   +8 more
core   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Paracrine Factor Local Gradient‐Generating System for Engineering Perfusable Vascularized Hepatocyte Tissues with Perfusion‐Induced Proliferation

Advanced Healthcare Materials, EarlyView.
A paracrine factor local gradient (PFLG)‐generating system enables microvessel penetration across 3D hepatocyte tissues. The resulting vascularized constructs recapitulate hepatic sinusoidal hepatocyte—endothelial contact architecture and enhance hepatic functions in vitro.
Yen‐Hsiang Huang, Tadahiro Yamashita, Ryo Sudo   +2 more
wiley   +1 more source