Results 81 to 90 of about 8,739 (269)

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

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

Autozygosity and Genetic Differentiation of Landrace and Large White Pigs as Revealed by the Genetic Analyses of Crossbreds

Frontiers in Genetics, 2019
Genomic information from crossbreds is routinely generated for genomic evaluations. The objective of this study is to investigate autozygosity and genetic differentiation in Landrace by Large-White breeds by using the genotypic information of SNP arrays ...
Luis Gomez-Raya, Luis Gomez-Raya, Wendy Mercedes Rauw, Wendy Mercedes Rauw, Jenelle R. Dunkelberger, Jack C. M. Dekkers   +5 more
doaj   +1 more source

Gellan Gum Fluid Gel System for Controlled‐Delivery of Cytokine‐Licensed MSC‐EVs to Enhance Corneal Repair in Limbal Stem Cell Deficiency

Advanced Healthcare Materials, EarlyView.
Gellan gum fluid gel (FG) enables controlled ocular delivery of mesenchymal stromal cell (MSC)‐derived extracellular vesicles (EV). Its shear‐thinning, solid‐liquid‐solid rheology ensures prolonged ocular retention. Sustained MSC‐EV release (∼18% in 6 hrs) supports effective EV ocular delivery.
Seyedmohammad Moosavizadeh, Ava Dashti, Thomas E. Robinson, Robyn Gaffey, Richard Moakes, Neil Lagali, Liam Grover, Thomas Ritter   +7 more
wiley   +1 more source

Genome-Wide Scan for Runs of Homozygosity Identifies Candidate Genes in Three Pig Breeds

Animals, 2019
Runs of homozygosity (ROH) are contiguous homozygous genotype segments in the genome that are present in an individual since the identical haplotypes are inherited from each parent.
Rui Xie, Liangyu Shi, Jiaxin Liu, Tianyu Deng, Lixian Wang, Yang Liu, Fuping Zhao   +6 more
doaj   +1 more source