January 2004 in “Pharmaceutical biotechnology” This study found that finasteride effectively inhibits the enzymatic activity of human steroid 5 alpha reductase type II in newly established CHO cell lines.
99 citations
,
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.
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.
45 citations
,
August 2010 in “Hormone Molecular Biology and Clinical Investigation” This study found that SRD5a-3 is a highly efficient enzyme for converting hormones into androgens, with dutasteride being a much more potent inhibitor of SRD5a-3 than SRD5a-2.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
63 citations
,
November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” This study observes the expression of mRNA for androgen receptor, 5α‐reductase, and 17β‐hydroxysteroid dehydrogenase in human dermal papilla cells.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
1 citations
,
February 2023 in “Frontiers in Endocrinology” This study demonstrates that combining gene expression data with a random forest algorithm provides highly accurate diagnosis of childhood growth hormone deficiency, showing potential utility in distinguishing it from non-GHD short stature.
13 citations
,
May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
July 2025 in “Journal of Investigative Dermatology” 22 citations
,
April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
3 citations
,
July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
29 citations
,
June 2016 in “Experimental Dermatology” This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
November 2024 in “JAAD Case Reports” In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.
February 2023 in “Archives of Dermatological Research” This study found that despite challenges, a combination of oral antibiotics, anti-androgens, oral retinoids, biologics, and surgery were important in managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” This study found that children with classic congenital adrenal hyperplasia had elevated epicardial fat thickness, which was associated with increased carotid intima media thickness, left ventricular mass, and mitral deceleration time.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.
October 2017 in “Indian heart journal” Higher levels of small, dense LDL cholesterol are linked to a greater risk of heart attack in young adults.
September 2019 in “Journal of Investigative Dermatology” This study introduced a reproducible human model using 3D-SeboSkin technology to study hidradenitis suppurativa, allowing better maintenance of skin integrity and replication of biomarker expression patterns compared to traditional skin cultures, suggesting its value for further research.
39 citations
,
February 1990 in “The journal of cell biology/The Journal of cell biology” This study identified trichohyalin as an early differentiation marker in hair follicles, with potential structural roles related to alpha-helical formations, based on the partial characterization of its cDNA in sheep.