Results 41 to 50 of about 1,239,617 (330)

Reduced gamma oscillations in a mouse model of intellectual disability: a role for impaired repetitive neurotransmission? [PDF]

PLoS ONE, 2014
Intellectual disability affects 2-3% of the population; mutations of the X-chromosome are a major cause of moderate to severe cases. The link between the molecular consequences of the mutation and impaired cognitive function remains unclear.
Andrew D Powell, Pierre-Philippe Saintot, Kalbinder K Gill, Ashtami Bharathan, S Caroline Buck, Gareth Morris, Premysl Jiruska, John G R Jefferys   +7 more
doaj   +1 more source

Dihydropteroate synthase gene mutations in Pneumocystis and sulfa resistance [PDF]

, 2004
Pneumocystis pneumonia (PCP) remains a major cause of illness and death in HIV-infected persons. Sulfa drugs, trimethoprim-sulfamethoxazole (TMP-SMX) and dapsone are mainstays of PCP treatment and prophylaxis.
Meja Rabodonirina, Chiara Atzori, Benfield, T, Helweg-Larsen, J, Rabodonirina, Meja, Robert Miller, Crothers, KA, Thomas Benfield, Huang, Laurence, Atzori, C, Rabodonirina, M, Laurence Huang, Kristina Crothers, Miller, R, Haung, L, Helweg-Larsen, Jannik, Jannik Helweg-Larsen, Miller, Robert, Crothers, Kristina, Benfield, Thomas, Atzori, Chiara   +20 more
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Genetic breakdown of a Tet-off conditional lethality system for insect population control

Nature Communications, 2020
Insect population control using conditional lethal systems could break down due to spontaneous mutations that render the system ineffective. Here the authors analyse the structure and frequency of such mutations in Drosophila and suggest the use of dual ...
Yang Zhao, Marc F. Schetelig, Alfred M. Handler   +2 more
doaj   +1 more source

Novel clinical presentation and PAX6 mutation in families with congenital aniridia

Frontiers in Medicine, 2022
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo, Xiaotian Zhang, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liu   +5 more
doaj   +1 more source

Point mutations of the P53 gene, human hepatocellular carcinoma and aflatoxins [PDF]

, 1993
The tumor suppressor p53 exerts important protective functions towards DNA-damaging agents. Its inactivation by allelic deletions or point mutations within the P53 gene as well as complex formation of wildtype p53 with cellular or viral proteins is a ...
Caselmann, Wolfgang H., Gerbes, Alexander L.   +1 more
core   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Use of nfsB, encoding nitroreductase, as a reporter gene to determine the mutational spectrum of spontaneous mutations in Neisseria gonorrhoeae

BMC Microbiology, 2009
Background Organisms that are sensitive to nitrofurantoin express a nitroreductase. Since bacterial resistance to this compound results primarily from mutations in the gene encoding nitroreductase, the resulting loss of function of nitroreductase results
Dunham Stephen, Carrizosa Esteban, Stein Daniel C   +2 more
doaj   +1 more source

Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]

, 2006
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa, Lorenc, Anna, Bryk, Jarek, Ewa Bartnik, Semczuk, Andrzej, Putowski, Lechoslaw, Anna Lorenc, Miotla, Pawel, Lechoslaw Putowski, Jaroslaw Bryk, Konrad Futyma, Andrzej Semczuk, Futyma, Konrad, Pawel Miotla   +13 more
core   +1 more source