Results 51 to 60 of about 889,593 (339)

Efficient allelic-drive in Drosophila. [PDF]

, 2019
Gene-drive systems developed in several organisms result in super-Mendelian inheritance of transgenic insertions. Here, we generalize this "active genetic" approach to preferentially transmit allelic variants (allelic-drive) resulting from only a single ...
Berni, Mateus, Bier, Ethan, Bobik, Marketta, Gantz, Valentino M, Guichard, Annabel, Haque, Tisha, Kaduskar, Bhagyashree, Klanseck, Carissa, Kushwah, Raja Babu Singh, Xu, Xiang-Ru S   +9 more
core   +4 more sources

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology
This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
doaj   +1 more source

S-Genotype Profiles of Turkish Apricot Germplasm

Notulae Botanicae Horti Agrobotanici Cluj-Napoca, 2016
In flowering plants, gametophytic self-incompatibility, controlled by a single locus with several allelic variants, is one of the major problems preventing self-fertilization.
Kadir Ugurtan YILMAZ, Busra BASBUG, Kahraman GURCAN, Hasan PINAR, Julia HALASZ, Sezai ERCISLI, Aydın UZUN, Erdogan COCEN   +7 more
doaj   +1 more source

Evaluation of thrombospondin–1 gene polymorphisms in corneal allograft rejection in Asian Indian patients

Indian Journal of Ophthalmology, 2020
Purpose: To evaluate the frequency and the association of Thrombospondin 1 (THBS1) gene single nucleotide polymorphisms (SNPs) in Asian Indian patients with optical full thickness corneal grafting surgery.
Murugesan Vanathi, Rashmi Shukla, Prahlad Balakrishnan, Roopa Dwivedi, Noopur Gupta, Radhika Tandon   +5 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Assessment of rhesus and kell blood group antigens, phenotypes, and their allelic frequencies in North Indian blood donors

Asian Journal of Transfusion Science, 2020
Background: Prevalence of rhesus (Rh) and Kell antigens in a population vary with race, ethnicity, and geographical location. With advances in immunohematology, non-D antigens, and their corresponding antibodies are increasingly being found to be ...
Sangeeta Pahuja, Sonal Jain, Manupriya Nain, Ruchika Goel, Shivali Sehgal, Manjula Jain   +5 more
doaj   +1 more source

RHD Positive Haplotype in D Negative Omani Blood Donor

Oman Medical Journal, 2023
The frequency of Rhesus D negative blood group in Omanis is 8.35% but the molecular background of this phenotype is unknown in the Omani population. The Rhesus D negative phenotype has a high molecular diversity.
Mujtaba Al Lawati, Badriya Al Balushi
doaj   +1 more source

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. [PDF]

, 2009
Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM(209850)) based on earlier evidence of linkage to the disorder.
Cantor, RM, Geschwind, DH, Merriman, B, Nelson, SF, Stone, JL, Strom, SP, Ten Bosch, JR   +6 more
core   +3 more sources

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source