Results 61 to 70 of about 7,051 (240)

Properties of Runs of Homozygosity as a Measure of Identity by Descent

Journal of Animal Breeding and Genetics
ABSTRACT Runs of Homozygosity (ROH) are commonly used to quantify autozygosity/identity‐by‐descent (IBD) in an individual or population. However, the method's accuracy at the segment level in livestock populations has only been evaluated in a few studies. Thus, the aim of this study was to determine to what extent
Wæge, Oda B, Druet, Tom, Berg, Peer, Meuwissen, Theo   +3 more
openaire   +3 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Heterozygosity-Rich Regions in Canine Genome: Can They Serve as Indicators of Balancing Selection?

Animals
Compared to the negative effect of directional selection on genetic diversity, balancing selection acts oppositely and maintains variability across the genome.
Adrián Halvoník, Nina Moravčíková, Luboš Vostrý, Hana Vostra-Vydrova, Gábor Mészáros, Eymen Demir, Monika Chalupková, Radovan Kasarda   +7 more
doaj   +1 more source

GENOMIC VARIABILITY AMONG CATTLE POPULATIONS BASED ON RUNS OF HOMOZYGOSITY [PDF]

Poljoprivreda, 2015
In this work, the distribution of different lengths ROH (runs of homozygosity) in six cattle breeds was described. A total of 122 animals from six cattle breeds (Holstein, Simmental, Austrian Pinzgau, Ayrshire, MRI-Meuse Rhine Issel and Slovak Pinzgau ...
Veronika Šidlová, Radovan Kasarda, Nina Moravčíková, Anna Trakovická , Ino Curik, Maja Ferenčaković   +5 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Runs of homozygosity: windows into population history and trait architecture

Nature Reviews Genetics, 2018
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals.
Ceballos, Francisco C., Joshi, Peter, Clark, David, Ramsay, Michele, Wilson, James; id_orcid 0000-0001-5751-9178   +4 more
openaire   +4 more sources

Genome-wide detection of runs of homozygosity and heterozygosity in Tunchang pigs

Animal
Tunchang pigs, mainly distributed throughout Hainan Province of China, are well-known for their superior meat quality, crude feed tolerance, and adaptability to high temperatures and humidity.
S.Q. Liu, Y.J. Xu, Z.T. Chen, H. Li, Z. Zhang, Q.S. Wang, Y.C. Pan   +6 more
doaj   +1 more source

Inbreeding and runs of homozygosity before and after genomic selection in North American Holstein cattle

BMC Genomics, 2018
Background While autozygosity as a consequence of selection is well understood, there is limited information on the ability of different methods to measure true inbreeding.
Mehrnush Forutan, Saeid Ansari Mahyari, Christine Baes, Nina Melzer, Flavio Schramm Schenkel, Mehdi Sargolzaei   +5 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source