Results 151 to 160 of about 1,098,495 (316)
An exploration of the experiences of children and young people with 22q11.2 Deletion Syndrome [PDF]
Background: 22q11.2 deletion syndrome is a complex and highly variable genetic syndrome characterised by multiple complex physical abnormalities and neurodevelopmental challenges affecting both social and educational outcomes for young people.
Ward, H.
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22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis [PDF]
, 2013 Chiara Squarcione, Maria Chiara Torti, Fabio Di Fabio, Massimo Biondi Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy Abstract: The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of ...
Di Fabio F +3 more
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FEBS Open Bio, EarlyView.The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer +7 more
wiley +1 more source
FEBS Open Bio, EarlyView.Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero +5 more
wiley +1 more source
Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia [PDF]
, 2018 Keiko Akahoshi,1 Toshiyuki Yamamoto2 1Department of Pediatrics, Tokyo Children’s Rehabilitation Hospital, Tokyo, Japan; 2Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan Abstract: We report the case of a ...
Akahoshi K, Yamamoto T
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A yeast model of 5‐oxoproline accumulation reveals a general toleration to 5‐oxoproline
FEBS Open Bio, EarlyView.Using a yeast model, we show that even high accumulation of 5‐oxoproline causes only mild cellular stress and does not trigger oxidative stress. Instead, cells adapt by activating efflux pumps and diverse protective pathways, suggesting that previously proposed harmful effects of 5‐oxoproline may arise from indirect metabolic imbalances rather than the
Pratiksha Dubey +4 more
wiley +1 more source
The 4977 Bp Deletion of Mitochondrial DNA as a Potential Trait Marker for Major Depressive Disorder [PDF]
Ying He,1,* Xinbo Yang,1,* Zongchang Li,1 Weiqing Liu,2,3 Jinsong Tang,4 Xiaogang Chen1 1Department of Psychiatry, National Clinical Research Center for Mental Disorders, and National Center for Mental Disorders, The Second Xiangya Hospital of ...
Yang X +5 more
core +1 more source
RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells
FEBS Open Bio, EarlyView.RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour +2 more
wiley +1 more source
FEBS Open Bio, EarlyView.KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura +19 more
wiley +1 more source
Small RNA pathways in mammalian oocytes
FEBS Open Bio, EarlyView.Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley +1 more source