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.
28 citations
,
January 2012 in “Biological & pharmaceutical bulletin” This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
1 citations
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May 2013 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Women with idiopathic hirsutism and PCOS have higher RBP4 levels, and PCOS is linked to greater insulin resistance; weight management may help both conditions.
37 citations
,
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.
23 citations
,
December 1977 in “Virchows Archiv B Cell Pathology” 79 citations
,
December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
15 citations
,
January 1991 in “Mammalian Genome”
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
September 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This review discusses the antimicrobial and protective effects of hesperidin and hesperetin against various toxicities, with potential mechanisms explored, but it reports no new research findings.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
31 citations
,
October 1992 in “PubMed” This study demonstrated immunological cross-reactivity between mycobacterial heat-shock protein 65 and human epidermal cytokeratin 1/2, suggesting that this cross-reactive epitope might play a role in skin diseases.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
127 citations
,
August 2016 in “The oncologist” This paper reviews adverse events related to hedgehog pathway inhibitors in advanced basal cell carcinoma patients, reporting no new clinical results but aiming to inform healthcare professionals for improved patient care.
4 citations
,
August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
46 citations
,
July 1974 in “The Journal of Clinical Endocrinology & Metabolism” In this study, women with hirsutism and amenorrhea showed lower serum estradiol and sex hormone binding globulin concentrations but higher levels of unbound testosterone compared to normal individuals.
February 2023 in “JEADV Clinical Practice” This case report describes a girl with uncombable hair syndrome who showed significant improvement in hair combability and growth rate after two cycles of oral biotin supplementation.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
2 citations
,
December 2025 in “Nature Communications” This study found that the repressive histone mark H2AK119ub links inhibitory FGF signals with the quiescent state in hair follicle stem cells, revealing a signaling-epigenetic axis crucial for maintaining stem cell quiescence and tissue homeostasis.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” 3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
8 citations
,
March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
April 2021 in “Journal of Investigative Dermatology” This trial found that intradermal injections of the Hair Stimulating Complex were well-tolerated and effectively stimulated hair growth and prevented hair loss in male pattern baldness participants over 18 weeks.
13 citations
,
May 1998 in “The Journal of Clinical Endocrinology & Metabolism” This study found that hCG decreased 5α-reductase and androgen receptor levels in skin samples from women in vitro, suggesting that human skin responds to LH/hCG treatment.
19 citations
,
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.
2 citations
,
June 2012 in “Journal of Dermatological Science” This study found that histidine decarboxylase is crucial for the hair-inducing ability of newborn mouse dermal cells, with its expression significantly decreasing in the first few days after birth.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.