12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
This study found that GPC1 is a key regulator of angiogenesis in human dermal microvascular endothelial cells, influenced by factors secreted by keratinocytes, and may be a target for alopecia treatment research.
68 citations
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November 2012 in “Journal of Investigative Dermatology” This study found that PGD2 inhibits hair follicle regeneration in mice through the Gpr44 receptor, suggesting that blocking PGD2 or Gpr44 may enhance skin regeneration after wounds.
7 citations
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March 2022 in “Molecules” This study found that 5-bromo-3,4-dihydroxybenzaldehyde (BDB) promoted hair growth in rat vibrissa follicles by activating Wnt/β-catenin and autophagy pathways and inhibiting the TGF-β pathway in dermal papilla cells.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This publication presents a library of geometric medicines designed to selectively target pathogenic bacteria and fungi with high precision while minimizing ecological harm, available for free on a non-commercial basis.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
This study found that extracellular Granzyme B contributes to skin aging and impaired healing in ApoE knockout mice by degrading essential extracellular matrix components like decorin and fibronectin.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
April 2016 in “Journal of Investigative Dermatology” This study provides a comprehensive platform to explore stem cell interactions regulating hair follicle growth, revealing key signaling pathways in epithelial-mesenchymal interactions using advanced RNA sequencing and transgenic reporters.
54 citations
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December 2011 in “American Journal Of Pathology” This study found that immune-mediated destruction of bulge stem cells is a key factor in the alopecia observed in AE mice, suggesting it as a model for studying primary cicatricial alopecias, particularly lichen planopilaris.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
This study found that administering gingerol improved survival and reduced organ damage in mouse models of chronic graft-versus-host disease by modulating T cell differentiation and inflammatory cytokines, suggesting a novel therapeutic approach for steroid-refractory cases.
This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
9 citations
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October 2017 in “Frontiers in plant science” This study found that the peach gene CTG134 mediates auxin-ethylene crosstalk, affecting root hair growth and hormone-regulated processes in plants.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This publication presents a library of precision geometric medicines that reportedly kill harmful bacteria and fungi while sparing beneficial organisms, using a delivery system that targets pathogens specifically and avoids ecological harm.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
August 2023 in “International Journal of Nanomedicine” This study found that a graphene-barium titanate nanosystem can accelerate wound healing by killing bacteria and promoting fibroblast proliferation, demonstrating effectiveness in both Gram-negative and Gram-positive bacteria-infected wounds in mice.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
37 citations
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January 1993 in “Yakugaku zasshi” This study found that a 70% ethanolic extract from Ginkgo biloba leaves promotes hair regrowth in C3H mice.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
September 2025 in “Journal of Cosmetic Dermatology” In this study, the use of rb‐bFGF in hair transplantation significantly increased follicle survival, reduced hair loss, improved patient satisfaction, and decreased complications compared to controls, in patients with androgenetic alopecia over a 12-month period.
2 citations
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June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, the authors observed that controlled microflora in gnotobionts leads to delayed maturation of T-dependent lymphocytes in the thymus, affecting cellular immunity reactions.
2 citations
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February 2025 in “Poultry Science” In this study, researchers investigated the genetic basis of the feathered foot trait in Guangxi native chickens and found that the gene TBX5 plays a critical role, suggesting it affects feather formation by regulating the proliferation and migration of dermal fibroblasts.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.