Results 171 to 180 of about 202,059 (264)

Effect of terahertz irradiation on DNA damage repair in living cells

FEBS Open Bio, EarlyView.
We investigated the effect of terahertz (THz) wave irradiation on DNA double‐strand break (DSB) repair in living cells. We found that THz irradiation enhanced DSB repair at specific frequencies, whereas heat treatment inhibited it, indicating that this effect is nonthermal and frequency‐specific.
Yuya Ueno, Shota Yamazaki, Hiromichi Hoshina, Masahiko Harata   +3 more
wiley   +1 more source

Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant. [PDF]

Ther Adv Endocrinol Metab
Karakilic-Ozturan E, Karaman V, Gedikbaşı A, Poyrazoğlu Ş, Darendeliler F, Uyguner ZO, Baş F.   +6 more
europepmc   +1 more source

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum. [PDF]

J Clin Immunol
Karaselek MA, Ozbey MY, Uygun V, Kuccukturk S, Karabey N, Tokdemir U, Ozel G, Demircioglu ZD, Yildirim S, Sahin A, Duran T, Akkus A, Yildirim S, Guner S, Reisli İ, Keles S.   +15 more
europepmc   +1 more source

Evaluating the effect of γ‐oryzanol on MASLD pathology using a medaka fish model

FEBS Open Bio, EarlyView.
This study explores a liver disease called MASLD, which is increasing worldwide and can lead to serious damage. Researchers used medaka fish instead of rodents to test a food compound, γ‐oryzanol. Fish fed this compound had less liver fat and healthier gut bacteria.
Yukako Ito, Haduki Asano, Ayano Ueki, Joe Sakamoto, Yasuhiro Kamei, Hayato Tokumoto, Ayaka Yazawa, Shigeki Kamitani   +7 more
wiley   +1 more source

Clinical Heterogeneity of a <i>TP53</i> Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant. [PDF]

Case Rep Genet
Al Hinai M, Wyk CV, Al Kharusi M, Hamza N, Al Batashi A, Al Sayegh A, Al Shihhi M.   +6 more
europepmc   +1 more source

Identification of (20R)‐protopanaxadiol from Panax ginseng as a novel anti‐SARS‐CoV‐2 compound

FEBS Open Bio, EarlyView.
We established a noninfectious BAC‐based SARS‐CoV‐2 replicon that enables antiviral screening under BSL‐2 conditions. Using this platform, we screened 373 food‐derived compounds and identified (20R)‐protopanaxadiol from Panax ginseng as a novel inhibitor of SARS‐CoV‐2 RNA replication, highlighting the value of safe replicon systems for antiviral ...
Midori Takeda, Natsue Maezono, Rina Uchikoshi, Nobuyuki Kato, Masanori Ikeda   +4 more
wiley   +1 more source

Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan. [PDF]

Sci Rep
Baltayev N, Abdikerim S, Afonin G, Rasulov A, Zhunussova A, Kaidarova D, Zhunussova G.   +6 more
europepmc   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

A novel <i>NR0B1</i> pathogenic variant in congenital adrenal hypoplasia presenting with azoospermia and normal testosterone. [PDF]

JCEM Case Rep
Meireles AR, Drummond JB, Abreu AP, Soares BS.   +3 more
europepmc   +1 more source