Results 121 to 130 of about 1,520,842 (344)

Development and Application of High‐Density Axiom Cajanus SNP Array with 56K SNPs to Understand the Genome Architecture of Released Cultivars and Founder Genotypes

The Plant Genome, 2018
Axiom Cajanus SNP array revealed genetic architecture and temporal diversity in pigeonpea varieties.
R. Saxena, A. Rathore, A. Bohra, P. Yadav, R. Das, Aamir W. Khan, V. K. Singh, A. Chitikineni, I. Singh, C. S. Kumar, K. Saxena, R. Varshney   +11 more
semanticscholar   +1 more source

High‐Temperature Single‐Photon Emission From Covalently Functionalized van der Waals Heterostructures

Advanced Science, EarlyView.
Covalent diazonium functionalization of graphite‐WSe2 heterostructures produces high‐purity single‐photon emission from WSe2 at T = 90 K, far above the typical T = 10 K limit. The chemical modification reshapes graphite's electronic structure and couples to WSe2 midgap states, stabilizing quantum emitters at elevated temperatures and opening pathways ...
S. Carin Gavin, Hsun‐Jen Chuang, Anushka Dasgupta, Moumita Kar, Kathleen M. McCreary, Sung‐Joon Lee, M. Iqbal Bakti Utama, Chunxi Zhou, Xiangzhi Li, George C. Schatz, Tobin J. Marks, Mark C. Hersam, Berend T. Jonker, Nathaniel P. Stern   +13 more
wiley   +1 more source

Robust remapping of equine SNP array coordinates to EquCab3.

Animal Genetics, 2018
Three commercial SNP genotyping arrays have been made available for the horse to date: Illumina Equine SNP50, 1 SNP70 BeadChips (SNP50 and SNP70) and the Thermo-Fischer (formerly Affymetrix) Axiom® MNEc670k array (MNEc670k), designed for imputation to ...
S. K. Beeson, R. Schaefer, Victor C. Mason, M. McCue   +3 more
semanticscholar   +1 more source

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

Advanced Science, EarlyView.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen, Xiaochen Wang, Hangping Fan, Yaxun Sun, Tingyu Gong, Hangyuan Qiu, Jue Wang, Ziwei Pan, Yanna Dang, Hongkun Wang, Danni Zhou, Tianyi Zhu, Hao Wang, Xianzhen Chen, Lizhen Xu, Jun Su, Fan Yang, Yiquan Tang, Xuguang Li, Bing Yang, Lenan Zhuang, Wei Wang, Chenyang Jiang, Ping Liang   +23 more
wiley   +1 more source

Generation of Nonintegrative‐Induced Pluripotent Stem Cells in Hutchinson‐Gilford Progeria Syndrome: Enhancing Aging Research

AGING MEDICINE, EarlyView.
We generated genetically stable iPSCs from HGPS patients using a nonintegrative Sendai virus method. This approach preserves cellular integrity, enhances disease modeling, and enables accurate study of Progerin‐induced cardiovascular dysfunction. Overall, it provides a reliable platform for understanding HGPS and aging‐related disease pathology and ...
Juned Kadiwala, Rameen Shakur
wiley   +1 more source

Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays [PDF]

, 2000
Jian-Bing Fan, Xiaoqiong Chen, Marc K. Halushka, Anthony Berno, Xiaohua Huang, Thomas B. Ryder, Robert J. Lipshutz, David J. Lockhart, Aravinda Chakravarti   +8 more
openalex   +1 more source

A High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination

G3: Genes, Genomes, Genetics, 2016
High-resolution genetic and physical maps are invaluable tools for building accurate genome assemblies, and interpreting results of genome-wide association studies (GWAS).
Gang Li, L. Hillier, R. Grahn, A. Zimin, V. David, M. Menotti-Raymond, R. Middleton, S. Hannah, Sher L. Hendrickson, A. Makunin, S. O’Brien, P. Minx, R. Wilson, L. Lyons, W. Warren, W. Murphy   +15 more
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

A reference haplotype panel for genome-wide imputation of short tandem repeats

Nature Communications, 2018
Short-tandem repeats (STR), similar to single nucleotide polymorphisms (SNP), contribute to complex traits, but their ascertainment by next-generation sequencing is costly. Here, Saini et al.
Shubham Saini, Ileena Mitra, Nima Mousavi, Stephanie Feupe Fotsing, Melissa Gymrek   +4 more
doaj   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source