37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
16 citations
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July 1996 in “Journal of Investigative Dermatology” November 2006 in “評価・診断に関するシンポジウム講演論文集” This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.
6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
49 citations
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January 1994 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that the topically applied non-steroidal antiandrogen RU 58841 may reduce androgen-dependent skin conditions in a hamster model with minimal systemic effects.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
October 2020 in “The American Journal of Gastroenterology” This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
This study evaluated interleukin-26's antimicrobial activity in Hidradenitis Suppurativa and explored its potential role in chronic skin inflammation.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
6 citations
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July 2013 in “Experimental and Therapeutic Medicine” This study found that topical ginsenoside Rg1 may protect skin from UVB-induced damage in mice by reducing pathological changes and modulating cytokine mRNA expression associated with inflammation and immune response.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
21 citations
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August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
January 2026 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study reported high analytical performance of an RMP for DHT quantification, with the ability to differentiate between 5α-DHT and 5β-DHT isomers, making it suitable for routine assay standardization and clinical sample evaluation.
November 2016 in “Hair transplant forum international” This article discusses the legal considerations of delegating parts of hair restoration procedures to unlicensed personnel and reports no new results.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
November 1998 in “Hair transplant forum international” This article discusses the American Board of Hair Restoration Surgery certification process and its role in recognizing physicians' knowledge and skills, but it reports no new results.
21 citations
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September 2019 in “International Journal of Nanomedicine” RADA16-I can effectively deliver and release mangiferin, improving its solubility and bioavailability.
October 2022 in “Hair Transplantation” This chapter provides an overview of essential instruments and supplies used in hair restoration surgeries, without reporting new clinical findings.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
In this report, a 22-year-old woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent treatment with hydrocortisone and spironolactone, followed by feminization surgery, which subsequently led to the development of secondary sexual characteristics and regular menstruation.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
2 citations
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September 2022 in “Jelenkori Társadalmi és Gazdasági Folyamatok” This study examines the use and forms of collaborative robot arms in industry, assesses safety and regulatory standards based on ISO/TS 15066, and explores future directions for human-robot collaboration in light of evolving EU Machinery Directive 2006/42/EC regulations.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.