10 citations
,
February 2019 in “Journal of cellular physiology” This study found that in yak hair follicles, TGF-β2 significantly contributes to the transition from growth to regression phases via inducing apoptosis, whereas HSP70 appears to inhibit follicle regression by protecting epithelial cells from apoptosis.
12 citations
,
May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
11 citations
,
December 2009 in “Cell stem cell” This study demonstrates that Sox2+ dermal papilla fibroblasts exhibit properties of adult stem cells, including the ability to induce hair follicle formation and contribute to dermal regeneration.
September 2017 in “Journal of Investigative Dermatology” This study suggests that the newly characterized sebocytic progenitor cells HSGC1 and HSGC2 from different skin sites may have proliferative and differentiating potential in response to DHT.
1 citations
,
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.
2 citations
,
August 1999 in “PubMed”
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
175 citations
,
December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
61 citations
,
February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
22 citations
,
March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
7 citations
,
August 2009 in “Applied Mathematics and Mechanics-English Edition” This study demonstrates that (9+2) topological patterns derived from fractal fiber sets exist, with nine total patterns and only two being independent or fundamental.
14 citations
,
December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
November 2023 in “ACS Applied Polymer Materials” In this study, the researchers developed a new method using H2O2/TiO2/UV for extracting human hair keratins rapidly, yielding higher protein and enabling the production of keratin films with better hemostatic performance and varied wound-healing properties compared to films from traditionally extracted keratin.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
This study found that high-charge-density cassia HPTC improves deposition efficiency and conditioning benefits in shampoos compared to quaternized guar, suggesting its potential as an alternative or adjunct conditioning agent.
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.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
25 citations
,
January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
3 citations
,
February 2025 in “Metabolites” In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
4 citations
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April 2018 in “Journal of vacuum science and technology. B, Nanotechnology & microelectronics” This study demonstrated the potential of a methodology combining ToF-SIMS and AFM to effectively analyze human hair structure and identify cosmetic residues, which can aid the cosmetic industry in product development.
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.