26 citations
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December 1990 in “Journal of Biological Chemistry” In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
638 citations
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October 1997 in “Nature” 92 citations
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May 2004 in “Journal of Investigative Dermatology” November 2019 in “SLAS technology” This study demonstrates that Sox11 and Sox4 are crucial for activating embryonic-like programs during wound healing, with Sox11 overexpression impairing skin differentiation and promoting genes linked to embryonic epidermis.
16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
This study found that the FOS gene may play a significant role in promoting hair follicle development in Tan sheep, with elevated expression during the Er-mao period.
6 citations
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October 2022 in “Frontiers in Physiology” This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
88 citations
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August 2014 in “PLOS genetics” This study found that mice lacking syndecan-1 experienced cold stress and metabolic issues due to reduced intradermal fat, which was restored by thermoneutral housing or rosiglitazone treatment.
12 citations
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February 2022 in “Gene” In this study, researchers found that the FOS gene may play a significant role in promoting hair follicle development in Tan sheep between birth and the Er-mao period.
8 citations
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July 2015 in “European journal of histochemistry” This study found that Sox9 was variably expressed in most canine skin neoplasms, particularly in those originating from the hair follicle's bulge region, suggesting its potential as a stem cell marker.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
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.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.
50 citations
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September 2023 in “Biomarker Research” This review focuses on S100A6, a Ca²⁺-binding protein, detailing its role in cell functions, the regulation of its expression, and its potential as a biomarker and therapeutic target in various diseases.
6 citations
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January 2019 in “Dermatology Research and Practice” This study found that ocular and mucocutaneous sequelae are common in SJS/TEN survivors, with exposure to sulfadoxine and severe acute ocular involvement identified as significant risk factors for ocular sequelae.
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.
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.
8 citations
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April 2019 in “ACS Biomaterials Science & Engineering” This study found that a new SIS-PEG sponge promoted rapid skin defect healing in mice and showed potential for reconstructing reconstituted skin with regenerated hair.
1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” This study discovered that lambs with coarse, ancestral-like wool in a population of modern fine wool sheep exhibited overexpression of the SOSTDC1 gene, linked to epigenetic changes, which helps understand the development and diversification of wool types in sheep breeding.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
13 citations
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January 2024 in “Journal of Nanobiotechnology” This research reported that a newly developed adhesive wound dressing (SIS/PAA/LAP) demonstrated higher tissue adhesion and burst strength compared to conventional products, and improved tissue repair outcomes in animal models, suggesting potential for enhanced wound healing applications.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.