97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
99 citations
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September 2004 in “Development” This study suggests that deregulation of sonic and desert hedgehog signaling in mouse skin can lead to altered epidermal stem cell activity and lesions similar to human basal cell carcinoma, indicating these cancers may originate outside the stem cell population.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
52 citations
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June 1991 in “Journal of Virology” In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.
1 citations
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December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
18 citations
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January 2021 in “Skin Research and Technology” This study found that high-frequency ultrasound was effective in localizing deep tumor margins in basal cell carcinoma, suggesting its utility in selecting therapeutic approaches.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
27 citations
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July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
35 citations
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June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
93 citations
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June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
2 citations
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January 1975 in “Archives of Dermatological Research” Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
April 2013 in “Developmental Cell” This study found that the chromatin remodeler Brg1 plays a crucial role in hair follicle maintenance and epidermal repair by regulating the Shh signaling pathway and forming a positive feedback loop.
42 citations
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July 2014 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that heparan sulfate is crucial for regulating hair follicle formation, cycling, and gland morphogenesis, with its ablation leading to continuous hair growth and increased gland activity in mice.
53 citations
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March 2003 in “Journal of Investigative Dermatology” This study found that human keratinocytes express a sodium-dependent multivitamin transporter for biotin, pantothenic acid, and lipoic acid, including a highly specific biotin transport component.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
November 2011 in “Molecular Cancer Therapeutics” This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
16 citations
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February 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found that hamster sebaceous glands have high affinity binding sites for dihydrotestosterone, with competition from other steroids indicating specific binding characteristics.
245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
This article discusses solitary hirsutism, emphasizing that treatment is mostly cosmetic unless contraception is also desired, and reports no new clinical results.
January 2020 in “Молодий вчений” B(III) blood type may have higher hemoglobin levels, but stress affects this, and hair iron levels correlate with hemoglobin in some blood types.