April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
8 citations
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May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
1 citations
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July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
14 citations
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June 2015 in “Toxicology and Industrial Health” This study found that low doses of bisphenol A may increase proliferation of the ventral prostate in adult rats by altering the estrogen to androgen ratio and gene expression.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.
4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that GATA6 is a key regulator of the upper pilo-sebaceous unit homeostasis and differentiation in human skin.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
April 2014 in “The FASEB Journal” This study found that Geranium Sibiricum L extract may promote hair growth by increasing cell proliferation and migration while modulating cytokine expression in human dermal papilla cells under stress conditions.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
June 2023 in “British Journal of Dermatology” This case study confirmed a diagnosis of Werner syndrome in a 27-year-old woman through genetic testing, highlighting the condition's characteristics and the importance of multidisciplinary management.
1 citations
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June 2016 in “FEBS open bio” This study reports that topical fish oil treatment in GsdmA3 Dfl/+ mice increased cellular proliferation and macrophages but did not affect COX-2 expression related to psoriasis-like skin changes.
September 2021 in “Physiology News” This abstract appears to consist entirely of repeated color specifications and logo guidelines, providing no research findings or new results.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
August 2005 in “The Journal of Cell Biology” This abstract provides a graphic illustrating that mice lacking the Sgk3 gene exhibit thin coats and abnormal hair, suggesting a role for Sgk3 kinase in hair follicle growth, but reports no new experimental findings.
April 2011 in “Cancer Research” In this study, ginsenoside 20(S)-protopanaxadiol-aglycone (PPD) was shown to downregulate androgen receptor expression and inhibit tumor growth in prostate cancer cells.
This chapter reviews current and future strategies for identifying ligands and functions of orphan G protein-coupled receptors, but it reports no new experimental results.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
4 citations
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May 2023 in “Cells” In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.
60 citations
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December 1988 in “Journal of Biochemical Toxicology” In this study, TCDD administered to male rats down-regulated EGF receptor in liver plasma membranes and increased protein kinase activity, suggesting EGF receptor–mediated toxicological effects.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
November 2025 in “Journal of Investigative Dermatology” N,N-Dimethylglycine sodium salt may improve skin health and treat hair loss.
In this animal study, rats treated with recombinant human growth hormone (at both low and high doses) experienced quicker burn wound healing than controls, with increased micro vessel density and altered expression of vascular endothelial growth factor, alongside changes in oxidative stress and inflammation markers.
December 2025 in “International Journal of Dermatology” This case report describes a unique instance of late-onset Björnstad syndrome in an 18-year-old female, mimicking androgenetic alopecia, and indicates potential improvement with JAK inhibitor baricitinib, highlighting the need for considering this syndrome in similar cases of patterned hair loss in young individuals.
6 citations
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October 2024 in “Frontiers in Bioengineering and Biotechnology” This study reported that the use of composite RGDmix hydrogel improved the survival and proliferation of human amniotic mesenchymal stem cells and increased growth factor expression, enhancing wound healing through the RGDSP/integrin αv/PI3K/AKT signaling pathway.