Results 21 to 30 of about 908,392 (296)

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek, Chu, Catherine, Gonzaludo, Nina, Grenville, Zoe, Kane, John P, Kwok, Pui-Yan, Lao, Richard, Levy-Sakin, Michal, Ma, Walfred, Mak, Angel CY, Malloy, Mary J, Poon, Annie, Pullinger, Clive R, Vaka, Dedeepya, Wong, Karen HY, Wong, Nicolas   +15 more
core   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

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

Structure and stability of the P93G variant of ribonuclease A [PDF]

Protein Science, 1998
AbstractThe peptide bonds preceding Pro 93 and Pro 114 of bovine pancreatic ribonuclease A (RNase A) are in the cis conformation. The trans‐to‐cis isomerization of these bonds had been indicted as the slow step during protein folding. Here, site‐directed mutagenesis was used to replace Pro 93 or Pro 114 with a glycine residue, and the crystalline ...
L W, Schultz, S R, Hargraves, T A, Klink, R T, Raines   +3 more
openaire   +2 more sources

Structural variants in 3000 rice genomes [PDF]

Genome Research, 2019
Investigation of large structural variants (SVs) is a challenging yet important task in understanding trait differences in highly repetitive genomes. Combining different bioinformatic approaches for SV detection, we analyzed whole-genome sequencing data from 3000 rice genomes and identified 63 million individual SV calls that grouped into 1.5 million ...
Roven Rommel Fuentes, Dmytro Chebotarov, Jorge Duitama, Sean Smith, Juan Fernando De la Hoz, Marghoob Mohiyuddin, Rod A. Wing, Kenneth L. McNally, Tatiana Tatarinova, Andrey Grigoriev, Ramil Mauleon, Nickolai Alexandrov   +11 more
openaire   +6 more sources

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

Spatially variant periodic structures in electromagnetics [PDF]

Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Sciences, 2015
Spatial transforms are a popular technique for designing periodic structures that are macroscopically inhomogeneous. The structures are often required to be anisotropic, provide a magnetic response, and to have extreme values for the constitutive parameters in Maxwell's equations.
Rumpf, Raymond C., Pazos, Javier J., Digaum, Jennefir L., Kuebler, Stephen M.   +3 more
openaire   +3 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

Insertion of T4-lysozyme (T4L) can be a useful tool for studying olfactory-related GPCRs. [PDF]

, 2012
The detergents used to solubilize GPCRs can make crystal growth the rate-limiting step in determining their structure. The Kobilka laboratory showed that insertion of T4-lysozyme (T4L) in the 3rd intracellular loop is a promising strategy towards ...
Baaske, Baud, Brian L. Cook, Cherezov, Chien, Christoph J. Wienken, Cook, Cook, Corin, Corin, Dahoun, Dieter Braun, Duhr, Garavito, Gimelbrant, Gimelbrant, Greenfield, Hanson, Horst Pick, Horst Vogel, Jaakola, Jacquier, Jayadev, Karolina Corin, Katada, Loll, Lu, Lu, McClintock, Philipp Baaske, Pick, Rasmussen, Ren, Rodriguez, Shimamura, Shirokova, Shuguang Zhang, Spehr, Spehr, Stefan Duhr, Wallin, Warne, Wienken, Wu   +43 more
core   +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