Results 21 to 30 of about 4,271,392 (311)

Design and structural characterisation of olfactomedin-1 variants as tools for functional studies [PDF]

, 2019
Background Olfactomedin-1 (Olfm1; also known as Noelin or Pancortin) is a highly-expressed secreted brain and retina protein and its four isoforms have different roles in nervous system development and function.
Sub Crystal and Structural Chemistry, Van den Hoek, H., Crystal and Structural Chemistry, Janssen, Bert J. C., Pronker, M., Van Den Hoek, Hugo, Janssen, B., Pronker, Matti F.   +7 more
core   +2 more sources

Genomic Alteration Burden in Advanced Prostate Cancer and Therapeutic Implications

Frontiers in Oncology, 2019
The increasing number of patients with sequenced prostate cancer genomes enables us to study not only individual oncogenic mutations, but also capture the global burden of genomic alterations.
Matthew J. Ryan, Matthew J. Ryan, Matthew J. Ryan, Rohit Bose, Rohit Bose, Rohit Bose, Rohit Bose, Rohit Bose   +7 more
doaj   +1 more source

Variations in Understanding Variants: (Hidden) Concepts of Text in German Critical Editions [PDF]

, 2017
German textual scholarship developed different models of genetic presentations. While each genetic model requires a special concept of text, this concept is not always obvious at first glance.
Nutt-Kofoth, Rüdiger
core   +1 more source

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine, 2021
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to ...
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi   +12 more
doaj   +1 more source

Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy

Molecular Genetics & Genomic Medicine, 2019
Background Autism spectrum disorder is commonly co‐diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD.
Kristy Jay, Amit Mitra, Taylor Harding, David Matthes, Brian Van Ness   +4 more
doaj   +1 more source

Structure-Based Understanding of ABCA3 Variants [PDF]

International Journal of Molecular Sciences, 2021
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care.
Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix   +3 more
openaire   +2 more sources

Structural Variations in the Genome of Potato Varieties of the Ural Selection

Agronomy, 2021
Potato (Solanum tuberosum L.) is the third most common plant crop in the world. Many studies, such as those using marker-assisted selection (MAS), are devoted to the genomic evaluation of potato.
Georgiy A. Lihodeevskiy, Elena P. Shanina   +1 more
doaj   +1 more source

Investigating the Effect of Imputed Structural Variants from Whole-Genome Sequence on Genome-Wide Association and Genomic Prediction in Dairy Cattle

Animals, 2021
Structural variations (SVs) are large DNA segments of deletions, duplications, copy number variations, inversions and translocations in a re-sequenced genome compared to a reference genome.
Long Chen, Jennie E. Pryce, Ben J. Hayes, Hans D. Daetwyler   +3 more
doaj   +1 more source

Spectrum and Density of Gamma and X-ray Induced Mutations in a Non-Model Rice Cultivar

Plants, 2022
Physical mutagens are a powerful tool used for genetic research and breeding for over eight decades. Yet, when compared to chemical mutagens, data sets on the effect of different mutagens and dosages on the spectrum and density of induced mutations ...
Joanna Jankowicz-Cieslak, Bernhard J. Hofinger, Luka Jarc, Sini Junttila, Bence Galik, Attila Gyenesei, Ivan L. Ingelbrecht, Bradley J. Till   +7 more
doaj   +1 more source

Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities

Frontiers in Genetics, 2020
The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice.
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, Francesco Albano   +6 more
doaj   +1 more source