Results 41 to 50 of about 115,560 (292)

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

A Disease Mechanism Underlying Bleeding in Wiskott-Aldrich Syndrome

Clinical Medicine Insights: Blood Disorders, 2008
The Wiskott-Aldrich Syndrome (WAS) is an × chromosome-linked immunodeficiency disorder. The most common symptom in WAS is bleeding. Several clinical investigations indicate that low platelet counts and defective platelet aggregation are the major causes ...
Shigeru Tsuboi
doaj   +1 more source

A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

Neurobiology of Disease, 1994
Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC pedigrees are linked to a genetic defect on chromosome 20q13.3.
C. Beck, B. Moulard, O. Steinlein, M. Guipponi, L. Vallee, P. Montpied, M. Baldy-Moulnier, A. Malafosse   +7 more
doaj   +1 more source

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular Therapy: Methods & Clinical Development, 2020
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni   +12 more
doaj   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Micronuclei in genotoxicity assessment: from genetics to epigenetics and beyond

Frontiers in Genetics, 2013
Micronuclei (MN) are extranuclear bodies that contain damaged chromosome fragments and/or whole chromosomes that were not incorporated into the nucleus after cell division. MN can be induced by defects in the cell repair machinery and accumulation of DNA
Lidia eLuzhna, Palak eKathiria, Olga eKovalchuk   +2 more
doaj   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Transcriptional profiling of regenerating embryonic mouse hearts

Genomics Data, 2016
The postnatal mammalian heart is considered a terminally differentiated organ unable to efficiently regenerate after injury. In contrast, we have recently shown a remarkable regenerative capacity of the prenatal heart using myocardial tissue mosaicism ...
Manuela Magarin, Herbert Schulz, Ludwig Thierfelder, Jörg-Detlef Drenckhahn   +3 more
doaj   +1 more source

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. [PDF]

PLoS ONE, 2010
Mutations in the human gene MCPH1 cause primary microcephaly associated with a unique cellular phenotype with premature chromosome condensation (PCC) in early G2 phase and delayed decondensation post-mitosis (PCC syndrome).
Marc Trimborn, Mahdi Ghani, Diego J Walther, Monika Dopatka, Véronique Dutrannoy, Andreas Busche, Franziska Meyer, Stefanie Nowak, Jean Nowak, Claus Zabel, Joachim Klose, Veronica Esquitino, Masoud Garshasbi, Andreas W Kuss, Hans-Hilger Ropers, Susanne Mueller, Charlotte Poehlmann, Ioannis Gavvovidis, Detlev Schindler, Karl Sperling, Heidemarie Neitzel   +20 more
doaj   +1 more source

Zinc‐Containing Bioactive Glass Programs Macrophage Polarization through Extracellular Traps Regulation for Enhanced Diabetic Wound Healing

Advanced Healthcare Materials, EarlyView.
Zinc‐containing bioactive glass (ZnBG) promotes diabetic wound healing by regulating macrophage extracellular traps (METs). Specifically, ZnBG reduces oxidative stress and inhibits the PAD4 and NLRP3/caspase‐1/GSDMD signaling pathways, thereby suppressing MET formation.
RuiYang Sun, XueBo Wei, ZhuoYang Song, JunJun Luo, JingYi Ye, YinNan Zhang, LiFei Zhu, Jie Gao, Hongyu Zhang, Hong Zhu, Xin Wang, Ke Xu   +11 more
wiley   +1 more source