354 citations
,
August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
3 citations
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April 2011 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This article provides a guideline for physicians on managing hair disorders, including recent developments and clinical practice guidelines, but it reports no new research findings.
14 citations
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May 2019 in “Chemosphere” This study found that while DP concentrations in dust were higher in male dormitories, DP in hair was higher in females, suggesting differing metabolism between genders and that hair DP mainly originates internally.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
20 citations
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June 2020 in “Journal of Cosmetic Dermatology” This study found that hypoxia increases the proliferation of dermal papilla cells and highlighted the important role of lactate dehydrogenase in this process.
3 citations
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November 2021 in “Skin Appendage Disorders” This study found that home-use diphenylcyclopropenone (H-DPCP) is a cost-effective alternative to office-use for severe alopecia areata, showing similar effectiveness with reduced costs.
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.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
This study presents a new approach to automatically remove hair artifacts from dermoscopic images, which reportedly performed well compared to existing methods like DullRazor using the PH2 datasets.
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.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers created a comprehensive transcriptome map of human hair follicle compartments, identifying compartment-specific genes and providing a resource for potential therapeutic interventions.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
December 2022 in “Skin Pharmacology and Physiology” This study found that most hair shaft abnormalities can be accurately diagnosed using a handheld dermoscope in a clinical setting.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
September 1999 in “Hair transplant forum international” This piece reflects on the past year of editing the Assistants' Corner and presents no new research findings.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
37 citations
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September 2009 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study found that diphencyprone is an effective and safe treatment for extensive alopecia areata, especially with long-term therapy and maintenance to reduce relapse risk.
13 citations
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June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
September 2017 in “Journal of Investigative Dermatology” This study found that stabilizing HIF1A in hair follicle cells promoted a shift to glycolysis, potentially reducing oxidative stress and promoting hair growth, particularly in balding dermal papilla cells.
March 1983 in “The Journal of the American Dental Association” 1 citations
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April 2001 in “Biological Rhythm Research” This study suggests that D2O increases hair length in nude mice by extending the hair cycle duration, particularly the hair-existing phase, which is associated with increased mast cell density.
September 2004 in “Hair transplant forum international” This article summarizes a meeting of the American Board of Hair Restoration Surgery's Board of Directors to discuss future plans, but does not report new experimental results.