Results 71 to 80 of about 1,098,495 (316)

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Human CLPP reverts the longevity phenotype of a fungal ClpP deletion strain [PDF]

open access: yes, 2013
Mitochondrial maintenance crucially depends on the quality control of proteins by various chaperones, proteases and repair enzymes. While most of the involved components have been studied in some detail, little is known on the biological role of the ...
Fischer, Fabian   +3 more
core   +1 more source

Meiotic Chromosomal Abnormality Detected in a Heterozygote of Elymus nutans

open access: yesFrontiers in Plant Science, 2022
Elymus nutans is an allopolyploid with a genome constitution of StStYYHH (2n = 6x = 42). Highly frequent intergenomic translocations and chromosomal variations with repeat amplification and deletions in E.
Bo Liu   +5 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

open access: yesFEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai   +9 more
wiley   +1 more source

22q11 deletion syndrome: current perspective [PDF]

open access: yes, 2015
Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinology, 2Department of Pediatric Nephrology, GATA Haydarpasa Training Hospital, 3Department of Medical Genetics, Marmara University, School of Medicine ...
Hacıhamdioğlu B   +2 more
core  

Genome-wide association analyses reveal copy number variant regions associated with reproduction and disease traits in Canadian Holstein cattle

open access: yesJournal of Dairy Science
: This study aimed to evaluate the impact of copy number variants (CNV) on 13 reproduction and 12 disease traits in Holstein cattle. Intensity signal files containing log R ratio and B allele frequency information from 13,730 Holstein animals genotyped ...
Hinayah Rojas de Oliveira   +11 more
doaj   +1 more source

Echo Answers in Chinese

open access: yesStudies in Chinese Linguistics, 2022
This paper studies echo answers to yes-no questions in Chinese with respect to their distributions, derivations, and typological patterns. We reconsider Simpson’s (2015) verb-raising analyses of verb echo answers (VEAs), finding that his analysis is ...
Wei Ting-Chi
doaj   +1 more source

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

open access: yesFrontiers in Genetics, 2022
Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin.
Guoxing Zhong   +9 more
doaj   +1 more source

Diversity and complexity in neural organoids

open access: yesFEBS 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

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

open access: yesFEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai   +4 more
wiley   +1 more source

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