January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
1 citations
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July 2023 in “Current Developments in Nutrition” December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
2 citations
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March 2015 in “Toxicology and Environmental Health Sciences” This study found that rice bran supercritical CO₂ extract was classified as a non-irritant for ocular use but a moderate irritant for dermal use in rabbits and guinea pigs.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
27 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified somatostatin as a potential secretory factor contributing to the immune privilege of human hair follicles.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
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.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
January 2026 in “Figshare” This report presents gene set enrichment scores for hair follicle compartments using tape strip and bulk biopsy methods, providing statistical data but no new experimental findings.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
5 citations
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September 2015 in “Journal of The American Academy of Dermatology” This letter highlights that the effectiveness of skin self-photography for melanoma detection has not been evaluated, although it could be a cost-effective option for patients without access to professional skin photography.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
November 2025 in “Biocell” This article explores how the integrated stress response and senescence-associated secretory phenotype influence stem cell fate decisions, highlighting their dual roles in both protecting and disrupting stem cell integrity.
17 citations
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December 2004 in “Bioorganic & Medicinal Chemistry Letters” This study identified N-acyl arylsulfonamides, particularly N-(Boc-piperidine-4-carbonyl)-benzenesulfonamides, as steroid sulfatase inhibitors with improved cellular potency compared to previous compounds.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
April 2023 in “Journal of Investigative Dermatology” This study demonstrated that the Epidermal Biopotential Sensing System (EBSS) can measure digital biomarkers of pain in mice, suggesting potential applications in assessing pain and screening analgesics in populations with communication difficulties.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
February 2020 in “The Pharmaceutical Society of Japan”
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
128 citations
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December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
56 citations
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September 2013 in “Experimental Dermatology” This guide reviews the biology of sebaceous glands and their evaluation methods, emphasizing their roles beyond lipid production in skin health and disease, and reports no new research results.
20 citations
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September 2019 in “Epidemiology and Psychiatric Sciences” This review discusses post-SSRI sexual dysfunction syndrome and highlights its significant clinical and regulatory implications, but reports no new findings.
3 citations
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July 2017 in “Journal of Investigative Dermatology” This study found that SSEA-4 is a marker that distinguishes eccrine from apocrine ductal cells in human sweat glands, suggesting its potential use in diagnostic applications.