Results 51 to 60 of about 870,271 (337)

Dual HLA B*42 and B*81-reactive T cell receptors recognize more diverse HIV-1 Gag escape variants

open access: yes, 2018
Closely related HLA alleles presenting similar HIV-1 epitopes can be associated with variable clinical outcome. Here the authors report their findings on CD8+ T cell responses to the HIV-1 Gag-p24 TL9 immunodominant epitope in the context of closely ...
Anmole, G.   +11 more
core   +2 more sources

The role of 39 psoriasis risk variants on age of psoriasis onset. [PDF]

open access: yes, 2013
Recent genome-wide association studies (GWAS) have identified multiple genetic risk factors for psoriasis, but data on their association with age of onset have been marginally explored.
Butler, Daniel   +12 more
core   +2 more sources

The ages of alleles and a coalescent

open access: yesAdvances in Applied Probability, 1986
A new coalescent is introduced to study the genealogy of a sample from the infinite-alleles model of population genetics. This coalescent also records the age ordering of alleles in the sample. The distribution of this process is found explicitly for the Moran model, and is shown to be robust for a wide class of reproductive schemes.Properties of the ...
Donnelly, P, Tavare, S
openaire   +4 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

GENETIC CHARACTERISTICS OF THE POPULATION LIVING IN THE TERRITORY OF THE REPUBLIC OF BASHKORTOSTAN

open access: yesВестник трансплантологии и искусственных органов, 2016
Sequence based typing was used to identify human leukocyte antigen (HLA)-A, -B, -C, -DRB1 alleles in 1,064 recruited volunteers in the Republic of Bashkortostan of the Russian Federation for unrelated hematopoietic stem cell registry.
M. A. Loginova   +3 more
doaj   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

open access: yesFEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker   +9 more
wiley   +1 more source

PREVALENCE OF POLYMORPHIC VARIANTS OF GENES HLA SYSTEM IN HEALTHY DONORS OF KRASNODAR REGION

open access: yesКубанский научный медицинский вестник, 2017
Polymorphism studies major histocompatibility complex human (HLA-system) in the world, held from mid-60s, when serotyping methods revealed that in different populations are determined by different sets of options HLA-antigens.
A. I. Tlif   +5 more
doaj   +1 more source

Characterization of two new alleles at the goat CSN1S2 locus. [PDF]

open access: yes, 2001
Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of ...
COSENZA, GIANFRANCO   +7 more
core   +1 more source

The cis-AB01 Allele Originated From the A105 Allele, and not From the A102 Allele

open access: yesAnnals of Laboratory Medicine, 2015
Researchers in the field of transfusion medicine have a growing interest in the cis-AB blood group, which is characterized by a paradoxical inheritance of the ABO blood group [1]. The cis-AB blood group arises from a glycosyltransferase capable of synthesizing both A and B antigens simultaneously [2]. In addition, affected individuals display more than
Myung-Geun Shin   +4 more
openaire   +3 more sources

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

open access: yesFEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz   +5 more
wiley   +1 more source

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