97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
4 citations
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January 2010 in “Journal of Veterinary Medical Science” This study used histopathological and ultrastructural analyses to differentiate between junctional epidermolysis bullosa and dermatomyositis-like disease in two juvenile dogs with skin disorders.
5 citations
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August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.
6 citations
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January 2017 in “Journal of toxicologic pathology” This study suggests that the patchy thickening and reddish discoloration in rabbit skin during the hair cycle may be due to large anagen-phase hair follicles compressing the dermis and increased blood vessels causing redness.
8 citations
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July 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the tensile strength of curly hair is influenced by two main components, with springiness (toe region) contributing significantly, unlike in noncurly hair where it is negligible.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
April 2018 in “Journal of Investigative Dermatology” This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.
2 citations
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May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
1 citations
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January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that injury-induced proliferation of wild-type cells can suppress oncogenic growth in Ras-mosaic skin.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
2 citations
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August 2016 in “Journal of Investigative Dermatology” 4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
34 citations
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July 2011 in “International journal of pharmaceutics” This study found that ion-paired solutions significantly improved the skin penetration of risedronate in hairless mice compared to risedronate alone.
1 citations
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July 1935 in “Nature” This study found super-contraction in the guard hairs of fur-bearing animals, likely due to oxidation in living animals, primarily affecting white and red foxes without prior heat or chemical treatment.
June 2024 in “Research Square (Research Square)” This study demonstrated that in mice, the absence of Jagged-1 expression in skin-resident regulatory T cells significantly delays wound healing by reducing the accumulation of neutrophils, highlighting the role of Jagged-1 in coordinating immune cell recruitment during injury.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that metabolic adaptations in skin epithelial stem cells, specifically redox ratio recovery and glycolytic flux modulation, define competitive outcomes between wild-type and mutant cells in different oncogenic environments.
August 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers developed innovative mechanical methods to measure the mechanical properties of Arabidopsis thaliana root hairs, concluding that axial stiffness is mainly due to tip compression and influenced by turgor pressure.
In this study using C3H/HeJ mice, a single subcutaneous injection of the fusion protein PTH-CBD increased anagen hair follicle counts and promoted hair regrowth comparably to daily oral ruxolitinib, potentially by enhancing beta-catenin production and stimulating anagen transition.
4 citations
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October 2013 in “PLoS ONE” This study found that Vemurafenib led to a broad range of cutaneous side effects in nearly all patients with advanced melanoma, highlighting the need for regular dermatologic management and UV protection.
30 citations
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November 2012 in “Proceedings of the Royal Society B Biological Sciences” This study found that the keratin matrix in mammalian hard α-keratins is crucial for maintaining stiffness in water by controlling intermediate filament hydration.
18 citations
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August 2017 in “PLOS ONE” This study reports that the mechanical interactions between human skin and adjacent subcutaneous white adipose tissue influence the appearance of skin wrinkles, with sWAT reinforcement potentially more effective for reducing signs of skin aging than skin reinforcement alone.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
22 citations
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September 2017 in “Skin appendage disorders” This report describes a case where treatment with the JAK inhibitor ruxolitinib significantly improved beard growth in a patient with severe alopecia areata, emphasizing its potential benefits for populations where beard hair holds cultural significance.
20 citations
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September 2005 in “Endocrinology” This study identified novel selective androgen receptor modulators with enhanced in vivo pharmacological activity through structure-activity relationship analysis in castrated rats.
3 citations
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January 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that knocking out vinculin in mouse skin disrupts bulge stem cell quiescence by impairing force generation and mechanical stability of adherens junctions.