26 citations
,
January 1983 in “PubMed” This study reports that despite normal cystine incorporation into hair follicles, trichothiodystrophy patients have decreased cystine levels in hair shafts, contradicting the hypothesis of defective transport in hair follicles.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.
51 citations
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December 2006 in “Mammalian Genome”
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
January 1998 in “Differentiation” Basonuclin is crucial for hair follicle development and cycling in mice.
4 citations
,
February 2021 in “Plant journal” This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
November 2023 in “Animal Bioscience” This study found that miR-133a-3p and miR-145-5p influenced goat hair follicle stem cell differentiation by inhibiting NANOG expression and promoting SOX9 expression.
26 citations
,
January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
July 2024 in “Journal of Investigative Dermatology”
2 citations
,
November 2018 in “Indian Journal of Pharmaceutical Education” This study designed a novel model for 5a-reductase enzyme inhibitors using pharmacophore and 3D QSAR techniques, potentially allowing for improved prediction and development of drug therapies targeting benign prostatic hyperplasia.
35 citations
,
August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
44 citations
,
April 2012 in “BMB Reports” This study identified several DPC-specific proteins, including ITGB1, IGFBP3, and THBS1, as potential biomarkers for hair growth modulation through proteomic and network analysis.
March 2026 in “ACS Applied Materials & Interfaces” This study described a novel three-dimensional-printed microneedle system designed for improved transdermal delivery of minoxidil to treat hair loss, demonstrating effective hair regrowth and safety in a mouse model while allowing sustainable needle base recovery.
175 citations
,
December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
7 citations
,
January 2017 in “Sub-cellular biochemistry/Subcellular biochemistry” August 1994 in “Journal of Dermatological Science”
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
7 citations
,
January 2002 in “PubMed” This study observed significant skin changes, including epidermal thickening and pleomorphic keratinocytes, in rats after subchronic UVB irradiation, highlighting specific reactions in the dorsal skin.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
18 citations
,
July 2006 in “British Journal of Dermatology” This study reported no Cx30 expression in normal interfollicular human epidermis and minimal expression in some skin structures, with faint detection in porokeratosis of Mibelli patient skin.
2 citations
,
November 1999 in “Hair transplant forum international” This commentary discusses the rarity of "triangular alopecia" in hair restoration surgery and highlights the lack of mention in professional settings, without providing new clinical data.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study used single-cell and spatial transcriptomic profiling to identify specific molecular markers in human follicular dermal papilla cells, enhancing understanding of their role in hair follicle development.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that HPV8-induced actinic keratoses may mechanistically involve Lrig1+ hair follicle keratinocyte stem cells, with the E6 gene promoting downstream STAT3 activity in a mouse model.