Results 121 to 130 of about 2,347,193 (305)

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype

Clinical Case Reports
This case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking ...
Yuri Hasegawa, Yuriko Kitajima, Koh Nagata, Shoko Miura, Kiyonori Miura   +4 more
doaj   +1 more source

Lipopolysaccharide uptake is augmented in lipopolysaccharide‐tolerant mouse macrophage‐like cells via increased CD14 expression

FEBS Open Bio, EarlyView.
In normal (nontolerant) cells, CD14 is crucial for both LPS uptake and LPS signaling. In LPS‐tolerant cells, in which LPS‐induced TNF‐α and IFN‐β production is suppressed, there is a dramatic increase in surface CD14 expression. The overexpressed CD14 in LPS‐tolerant cells is responsible for the enhanced LPS uptake without inducing pro‐inflammatory ...
Saeka Nishihara, Takayuki Manabe, Mika Jouta, Kiyoshi Kawasaki   +3 more
wiley   +1 more source

Hyperosmotic stress‐induced redistribution of pre‐mRNA cleavage factor I subunits is associated with shifts in alternative polyadenylation

FEBS Open Bio, EarlyView.
Hyperosmotic stress triggers the relocation of the CFIm complex from the nucleus to the cytoplasm. This shift creates a nuclear ‘stoichiometric bottleneck’, limiting CFIm availability for mRNA processing. Consequently, specific mRNAs like NUDT21 and DICER1 undergo targeted 3′UTR shortening, demonstrating how spatial protein dynamics drive rapid ...
Hitomi Soumiya, Masatake Osawa, Hidefumi Fukumitsu   +2 more
wiley   +1 more source

Genetic counselling problems with parents of child with ROB der(21;21)(q10:q10) Down syndrome: a case report

Universa Medicina
Background Down syndrome (DS) is a genetic disorder caused by addition of a full or partial chromosome 21. The most common type of DS (90–95%) is pure trisomy 21; mosaicism occurs in 6–7%, and about 3–5% comprises translocation DS including Robertsonian ...
Nisa. A.T. Hadi, Agustini Utari, Tri Indah Winarni   +2 more
doaj   +1 more source

Translocation actions for threatened plant species in Apulia region (Southern Italy).

, 2022
In situ conservation is widely considered a primary conservation strategy. Plant translocation, specifically, represents an important tool for reducing the extinction risk of threatened species, acting directly on populations in their natural habitat.
Tomaselli V., Pazienza G., Forte L., Carruggio F., Saulle D., Mantino F.   +5 more
core  

Evaluating the involvement of autolysosomes in the nuclear translocation of fluorescent proteins

FEBS Open Bio, EarlyView.
Endogenously expressed fluorescent proteins can be degraded by autophagy and transported to cell nuclei via the nuclear pore complex. But in some cell lines, for example, HeLa cells which are positive for immunoreactivity of a receptor ligand, such as UCN I, in cell nuclei, fusion of autolysosome with the nuclear envelope is involved in the nuclear ...
Keiichi Ikeda
wiley   +1 more source

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications

Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births. While most carriers are phenotypically normal, they are at risk of generating unbalanced gametes during meiosis, leading to genetic anomalies such as ...
Daniela Koeller R. Vieira, Patrícia Camacho Mazzonetto, Carlos Roberto da Fonseca, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida, Carla Rosenberg, Ingrid Bendas Feres Lima, Juan Llerena, Elenice Ferreira Bastos   +8 more
core   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

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

Translocation, genetic structure and homing ability confirm geographic barriers disrupt saltwater crocodile movement and dispersal. [PDF]

PLoS One, 2019
Fukuda Y, Webb G, Manolis C, Lindner G, Banks S.   +4 more
europepmc   +1 more source