Results 61 to 70 of about 9,439,218 (381)

A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]

open access: yes, 2018
Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele   +5 more
core   +2 more sources

Next-generation muscle-directed gene therapy by in silico vector design

open access: yesNature Communications, 2019
Adeno-associated viral vectors (AAV) are being developed for gene therapy of skeletal muscle, but it is a challenge to achieve robust gene expression. Here, the authors identify muscle-specific cisregulatory elements that lead to a substantial increase ...
S. Sarcar   +18 more
doaj   +1 more source

Dynamic associations of transcription factors with the rat liver nuclear matrix are functionally related to differential alpha-2-macroglobulin gene expression [PDF]

open access: yesArchives of Biological Sciences, 2008
Participation of the nuclear matrix in regulation of alpha-2-macroglobulin (α2M) gene transcription during rat liver development and the acute-phase (AP) response are examined.
Dinić Svetlana   +6 more
doaj   +1 more source

Limited Proteolysis-Coupled Mass Spectrometry Identifies Phosphatidylinositol 4,5-Bisphosphate Effectors in Human Nuclear Proteome

open access: yesCells, 2021
Specific nuclear sub-compartments that are regions of fundamental processes such as gene expression or DNA repair, contain phosphoinositides (PIPs). PIPs thus potentially represent signals for the localization of specific proteins into different nuclear ...
Martin Sztacho   +5 more
doaj   +1 more source

The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions.

open access: yesJournal of Clinical Investigation, 1998
The cytochrome P-450 monooxygenase 3A4 (CYP3A4) is responsible for the oxidative metabolism of a wide variety of xenobiotics including an estimated 60% of all clinically used drugs.
J. Lehmann   +5 more
semanticscholar   +1 more source

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

open access: yesFEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

NUCLEAR ENVELOPE AND GENOME INTERACTIONS IN CELL FATE

open access: yesFrontiers in Genetics, 2015
The eukaryotic cell nucleus houses an organism’s genome and is the location within the cell, where all signaling-induced and development-driven gene expression programs are ultimately specified. The genome is enclosed and separated from the cytoplasm by
Maya eCapelson, Jessica A Talamas
doaj   +1 more source

What is the potential impact of genetic divergence of plastid ribosomal genes between Silene nutans lineages in hybrids? An in silico approach using the 3D structure of the plastid ribosome

open access: yesFrontiers in Plant Science, 2023
IntroductionFollowing the integration of cyanobacteria into the eukaryotic cells, many genes were transferred from the plastid to the nucleus. As a result, plastid complexes are encoded both by plastid and nuclear genes.
Zoé Postel   +3 more
doaj   +1 more source

Making tau amyloid models in vitro: a crucial and underestimated challenge

open access: yesFEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

Complete Sequences of Organelle Genomes from the Medicinal Plant Rhazya Stricta (Apocynaceae) and Contrasting Patterns of Mitochondrial Genome Evolution Across Asterids [PDF]

open access: yes, 2014
Rhazya stricta is native to arid regions in South Asia and the Middle East and is used extensively in folk medicine to treat a wide range of diseases.
Baeshen, Mohammed N.   +7 more
core   +1 more source

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