Results 1 to 10 of about 1,566,823 (304)
Molecular genetics of Dupuytren’s contracture [PDF]
EFORT Open ReviewsDupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen.
Shankar Aissvarya +3 more
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Identification of Scd5 as a functional regulator of visceral fat deposition and distribution
iScience, 2022 Summary: Ectopic deposition of visceral adipose tissue (VAT) in abdomen is usually accompanied with systematic chaos of energy metabolism, a higher risk of cardiovascular diseases and type II diabetes.
Qi Zhang +4 more
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The functional mutational landscape of the lacZ gene
iScience, 2023 Summary: The lacZ gene of Escherichia coli encodes β-galactosidase (β-gal), a lactose metabolism enzyme of the lactose operon. Previous chemical modification or site-directed mutagenesis experiments have identified 21 amino acids that are essential for β-
Marc A. Beal +5 more
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CRISPR interference provides increased cell type-specificity compared to the Cre-loxP system
iScience, 2023 Summary: Cre-mediated recombination is frequently used for cell type-specific loss of function (LOF) studies. A major limitation of this system is recombination in unwanted cell types.
Dominique J. Laster +10 more
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Molecular genetics made simple [PDF]
Global Cardiology Science & Practice, 2012 Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better ...
Heba Sh. Kassem +2 more
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iScience, 2023 Summary: Ionizing radiation (IR) is a risk factor for acute myeloid leukemia (rAML). Murine rAMLs feature both hemizygous chromosome 2 deletions (Del2) and point mutations (R235) within the hematopoietic regulatory gene Spi1.
Natalie Brown +9 more
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
iScience, 2023 Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene.
Bergithe E. Oftedal +24 more
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Molecular Population Genetics [PDF]
Genetics, 2017 AbstractMolecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics.
Casillas, Sònia, Barbadilla, Antonio
openaire +2 more sources
Sex-biased genome-editing effects of CRISPR-Cas9 across cancer cells dependent on p53 status
iScience, 2023 Summary: The CRISPR-Cas9 system has emerged as the dominant technology for gene editing and clinical applications. One major concern is its off-target effect after the introduction of exogenous CRISPR-Cas9 into cells.
Mengbiao Guo, Yuanyan Xiong
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Interrogating cell type-specific cooperation of transcriptional regulators in 3D chromatin
iScience, 2021 Summary: Context-specific activities of transcription regulators (TRs) in the nucleus modulate spatiotemporal gene expression precisely. Using the largest ChIP-seq data and chromatin loops in the human K562 cell line, we initially interrogated TR ...
Xianfu Yi +15 more
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