This study found that using SH-SY5Y cell lysate in Western blot analysis may improve the diagnosis of Satoyoshi syndrome by providing more consistent and clear immunoreactive band patterns compared to brain homogenate, potentially leading to earlier diagnosis and treatment.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
1 citations
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June 2023 in “The FASEB journal” This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
3 citations
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April 2022 in “Research Square (Research Square)” In this study, the researchers identified a PBX1-SIRT1-PARP1 axis that plays a crucial role in reducing senescence and apoptosis in hair follicle-derived mesenchymal stem cells.
33 citations
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April 2020 in “Journal of Clinical Investigation” This study found that hair follicle stem cells from hidradenitis suppurativa patients showed alterations in cell cycle regulation and DNA replication, potentially linking genetic predisposition to the skin inflammation characteristic of the disease.
April 2014 in “동의생리병리학회지” This study found that Samhwang-Sasimtang herbal extract may enhance hair growth in mice, as indicated by increased hair follicle activity and reduced growth inhibition factors compared to a control.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
March 2024 in “Journal of drugs in dermatology” This study evaluated the safety and effectiveness of HASHA, a new hyaluronic acid injectable, for chin augmentation in adults with chin retrusion. HASHA significantly improved chin appearance and satisfaction over 12 months compared to controls, with only mild or moderate transient adverse events.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This source reports that a study by Liu et al. analyzed genetic factors influencing adalimumab response in hidradenitis suppurativa, finding a specific genetic variant (SNP rs59532114) associated with an inadequate response to the treatment due to increased abscess and inflammatory nodule counts.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
220 citations
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May 2017 in “JAMA dermatology” This study found that the skin microbiome in patients with hidradenitis suppurativa differs significantly from healthy controls, suggesting a potential link between microbial imbalance and the disease.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
30 citations
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October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
3 citations
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May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
2 citations
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September 2024 in “Journal of the American Academy of Dermatology” Higher monocyte counts may predict poor response to adalimumab in hidradenitis suppurativa patients.
354 citations
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August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
4 citations
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June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
5 citations
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April 2014 in “Journal of Lipid Research” This study demonstrates a method to noninvasively assess lipid classes in rodent sebum via high-field proton NMR, observing significant lipid reductions in rats treated with an SCD1 inhibitor.
April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This source describes SH‑1 as a next-generation androgen receptor antagonist designed for localized treatment of androgenetic alopecia, aiming to reverse follicular miniaturization while maintaining endocrine balance. Unlike traditional therapies, SH‑1 offers tissue-specific action, avoiding systemic effects.
This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.
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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January 2022 in “Australasian Journal of Dermatology” This study found that serum HDAC1 levels are significantly higher in patients with alopecia areata compared to those with acne vulgaris and healthy controls, suggesting potential therapeutic opportunities for HDAC inhibitors.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.