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.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
35 citations
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January 2011 in “Journal of Biological Chemistry” This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.
July 1995 in “Journal of Dermatological Science” 1 citations
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April 2025 in “BMC Veterinary Research” This study found that PSAT1 is a key regulator of cellular survival and regenerative capacity in cashmere goat hair follicle stem cells, highlighting its role in the SHF cycle and its potential as a target to boost cashmere fiber production.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
25 citations
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June 2014 in “Journal of Endocrinology/Journal of endocrinology” This study found that local androgen biosynthesis and metabolism in human sebaceous glands play a crucial role in sebum synthesis and secretion.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
8 citations
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July 2022 in “International Journal of Molecular Sciences” This study found that in estrogen receptor-positive breast cancer cells, 17β-estradiol repressed polyamine oxidase transcription by interacting with AP-1 sites on its promoter.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
January 2016 in “Experimental Dermatology” This article in Experimental Dermatology does not include an abstract or any new research findings.
April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
March 2010 in “European Journal of Cancer Supplements” This study found that inhibiting apoptosis during hair follicle regression in mice disrupted hair regeneration, causing delays and alterations in stem cell niche architecture and associated tissue remodeling processes.
6 citations
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September 2009 in “European journal of histochemistry” This study found that CD90+ stem cells with fibroblast-like morphology are present in the lower part of the anagen hair follicle in dogs.
October 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Sox9, Caveolin1, and Androgen receptor genes are expressed in both skin tissues and musk glands of Chinese forest musk deer, suggesting their importance in these tissues.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
1 citations
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January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.
3 citations
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January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCɛ in mouse epidermis increased sensitivity to metastatic squamous cell carcinoma, suggesting that a PKCɛ-mediated microenvironment may promote cancer development through specific cytokines like TNFα.
28 citations
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January 2008 in “Journal of medical investigation” This study found that Sp6 overproduction in ameloblast-lineage cells increased cell proliferation and ameloblastin expression, suggesting that Sp6 promotes amelogenesis by inhibiting follistatin gene expression.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.