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Pangenome analysis reveals genomic variations associated with domestication traits in broomcorn millet
Broomcorn millet ( Panicum miliaceum L.) is an orphan crop with the potential to improve cereal production and quality, and ensure food security. Here...
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DNA Damage and DNA Repair
This chapter describes in more detail the various kinds of DNA damage that can cause mutations and chromosomal alterations as well as the...
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PD-L1–PD-1 interactions limit effector regulatory T cell populations at homeostasis and during infection
Phenotypic and transcriptional profiling of regulatory T (T reg ) cells at homeostasis reveals that T cell receptor activation promotes T reg cells with...
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Ucp4 Knockdown of Cerebellar Purkinje Cells Induces Bradykinesia
Although uncoupling protein 4 (UCP4) is the most abundant protein reported in the brain, the biological function of UCP4 in cerebellum and...
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Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within...
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Krebsgenetik
Dieses Kapitel bietet eine Übersicht über die genetische Prädisposition für Krebs und die verschiedenen Arten von genetischen Veränderungen in...
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Direct neuronal reprogramming of mouse astrocytes is associated with multiscale epigenome remodeling and requires Yy1
Direct neuronal reprogramming is a promising approach to regenerate neurons from local glial cells. However, mechanisms of epigenome remodeling and...
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Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry
Single germline nucleotide pathogenic variants have been identified in 12 breast cancer predisposition genes, but structural deletions in these genes...
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Isochromosomes
Indication for chromosome analysis: Developmental retardation, minor facial dysmorphisms.
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Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors
BackgroundLow-grade serous ovarian cancer (LGSOC) is a rare disease that occurs more frequently in younger women than those with high-grade disease....
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Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
AbstractAutosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes...
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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and...
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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and...
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Heteromorphismes: Mutations in Non-Coding-DNA Regions
For a long time, the constitutive heterochromatin has been regarded as neglectable as to its significance of mutations in chromosome structure and...
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Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
X-linked chronic granulomatous disease (XL-CGD) is an inherited disorder of superoxide production, causing failure to generate the oxidative burst in...
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Genetic Instability and Cancer
Cancer cells have a high degree of genomic plasticity, a characteristic that endows them with the dangerous ability to adapt to new environmental...
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Endothelin receptors in renal interstitial cells do not contribute to the development of fibrosis during experimental kidney disease
Renal interstitial fibrosis is characterized by the development of myofibroblasts, originating from resident renal and immigrating cells....
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mTOR regulates GPVI-mediated platelet activation
BackgroundDue to mTOR (mammalian/mechanistic target of rapamycin) gene-loss mice die during embryonic development, the role of mTOR in platelets has...
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Cancer Genetics
This chapter summarizes genetic predisposition to cancer, the various kinds of genetic changes in cancer cells, and introduces some of the mechanisms...
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Telomere-to-telomere assemblies of 142 strains characterize the genome structural landscape in Saccharomyces cerevisiae
Pangenomes provide access to an accurate representation of the genetic diversity of species, both in terms of sequence polymorphisms and structural...
