Results 91 to 100 of about 1,186,851 (331)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

open access: yesFEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig   +7 more
wiley   +1 more source

Profil genetika DNA mikrosatelit kromosom-Y masyarakat laki-laki soroh Kayuan Pasek Catur Sanak Bali Mula

open access: yesJurnal Kajian Bali (Journal of Bali Studies), 2017
This research is conducted to find out the genetic profiles of Kayuan clan which is belong to Pasek Catur Sanak Bali Mula, indigenous Balinese people. The DNA profiles is identified by using Microsatellite DNA of Y chromosome.
I Ketut Junitha   +2 more
doaj  

TMC4 localizes to multiple taste cell types in the mouse taste papillae

open access: yesFEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata   +6 more
wiley   +1 more source

Corrigendum: Single nucleotide polymorphisms interactions of the surfactant protein genes associated with respiratory distress syndrome susceptibility in preterm infants

open access: yesFrontiers in Pediatrics, 2022
Shaili Amatya   +7 more
doaj   +1 more source

Comportamiento de los alelos HLA-DQB1*02 y HLA-DQB1*03 en pacientes con diagnóstico presuntivo de enfermedad celíaca Behavior of HLA-DQB1*02 and HLA-DQB1*03 alleles in patients with a presumptive diagnosis of celiac disease

open access: yesRevista Cubana de Medicina, 2011
La enfermedad celíaca (EC) es autoinmune y se observa en individuos genéticamente predispuestos, se caracteriza por la intolerancia a determinadas proteínas llamadas gluten (gliadinas y gluteínas) que se encuentran en el trigo, el centeno y la cebada. Se
Sylvia Torres Odio   +8 more
doaj  

GENOTYPIC STRUCTURE OF THE BUUBEI AND ZABAIKALSKAYA BREED SHEEP ACCORDING TO THE GENES GDF9, CAST, KRT1.2, KAP1.3 AND THEIR RELATIONSHIP WITH PRODUCTIVITY

open access: yesSiberian Journal of Life Sciences and Agriculture
The purpose of this study is to identify the polymorphism of the GDF9, CAST, KRT1.2, KAP1.3 genes and to study their influence on the live weight and wool productivity of the Zabaikalskaya fine-wool breed and coarse-wooled Buubei sheep.
Galina M. Goncharenko   +5 more
doaj   +1 more source

The role of lipid metabolism in neuronal senescence

open access: yesFEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari   +2 more
wiley   +1 more source

Obesity-related glomerulopathy in the presence of APOL1 risk alleles

open access: green, 2022
Ronald Valdez Imbert   +3 more
openalex   +2 more sources

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

open access: yesFEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada   +5 more
wiley   +1 more source

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