[HTML][HTML] The applied anatomy of human skin: A model for regeneration

JM Abdo, NA Sopko, SM Milner - Wound Medicine, 2020 - Elsevier
Autologous keratinocyte cultures and combinations of scaffolds, different cell types, solutions
of macromolecules, or growth factors have contributed to the resurfacing of burns and large …

α‐Defensins in human innate immunity

RI Lehrer, W Lu - Immunological reviews, 2012 - Wiley Online Library
Defensins are small, multifunctional cationic peptides. They typically contain six conserved
cysteines whose three intramolecular disulfides stabilize a largely β‐sheet structure. This …

Human genome sequencing in health and disease

C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Copy number variation: new insights in genome diversity

JL Freeman, GH Perry, L Feuk, R Redon… - Genome …, 2006 - genome.cshlp.org
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …

Protein-altering variants at copy number-variable regions influence diverse human phenotypes

MLA Hujoel, RE Handsaker, MA Sherman… - Nature Genetics, 2024 - nature.com
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not
been effectively ascertained in most genetic association studies. Here we ascertained …

Psoriasis is associated with increased β-defensin genomic copy number

EJ Hollox, U Huffmeier, PLJM Zeeuwen, R Palla… - Nature …, 2008 - nature.com
Psoriasis is a common inflammatory skin disease with a strong genetic component. We
analyzed the genomic copy number polymorphism of the β-defensin region on human …

Defensins in innate antiviral immunity

ME Klotman, TL Chang - Nature Reviews Immunology, 2006 - nature.com
Defensins are small antimicrobial peptides that are produced by leukocytes and epithelial
cells, and that have an important role in innate immunity. Recent advances in understanding …

Copy number variants, diseases and gene expression

CN Henrichsen, E Chaignat… - Human molecular …, 2009 - academic.oup.com
Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

The genetics and immunobiology of IgA nephropathy

K Kiryluk, J Novak - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
IgA nephropathy (IgAN) represents the leading cause of kidney failure among East Asian
populations and the most frequent form of primary glomerulonephritis among Europeans …

Defensins in viral infection and pathogenesis

MK Holly, K Diaz, JG Smith - Annual review of virology, 2017 - annualreviews.org
α, β, and θ defensins are effectors of the innate immune system with potent antibacterial,
antiviral, and antifungal activity. Defensins have direct antiviral activity in cell culture, with …