45 citations
,
December 2004 in “Forensic Science International” This study reports that using laser microdissection to isolate telogen hair follicles significantly improves DNA extraction efficiency for STR typing, reducing contamination from keratin.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
2 citations
,
July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
99 citations
,
August 2009 in “Nature Genetics” This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.
11 citations
,
January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
12 citations
,
June 2021 in “Scientific Reports” This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review examines the development and challenges of using PROTACs, a targeted protein degradation strategy, to treat cancer by degrading specific proteins like PARPs and GPX4, highlighting issues such as target diversification and bioavailability.
2 citations
,
May 2017 in “Journal of the American Academy of Dermatology” Tofacitinib helped a 19-year-old regrow hair after other treatments failed.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
11 citations
,
January 2020 in “Dermatologica Sinica” This study found that tofacitinib effectively promoted hair regrowth in Asian patients with severe alopecia areata, with 74.3% showing a clinical response.
1 citations
,
February 2025 in “Medicina” This study examined genetic risk factors for alopecia areata in the Jordanian population but found no significant association between the 21 targeted risk loci and the condition, emphasizing variability in genetic predisposition across ethnic groups and potential non-genetic triggers.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The researchers reported that in a mouse model of alopecia areata, tofacitinib treatment influenced disease progression by modulating CD8+ T cell infiltration through the linoleic acid metabolism and magnesium ion pathway, offering insights into potential treatment approaches.
In this study, RNA-sequencing identified differentially expressed genes, including FGF5, FGFR1, and RRAS, that affect the hair follicle growth cycle in Inner Mongolian Cashmere goats.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
2 citations
,
September 2022 in “Dermatologic Therapy” In this study, tofacitinib showed a mixed response in treating refractory alopecia areata, with some patients experiencing complete or partial hair regrowth and others showing no response, particularly those with alopecia universalis.
January 2024 in “Dermatologic therapy” In this study, pediatric patients with alopecia areata treated with systemic tofacitinib showed significant improvement at 12 months, but the small sample size and retrospective design limit conclusions about its effectiveness.
2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
7 citations
,
February 2020 in “Clinical and Experimental Dermatology” This study identified an association between alopecia areata and the MICA*009 and HLA-B14 genetic markers, highlighting the importance of studying them together to better understand their role in this condition.
17 citations
,
August 2015 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study concluded that the best approach for detecting Androsta-1,4,6-triene-3,17-dione administration in horses is monitoring the metabolites M1b or M4 in urine, detectable up to 77 hours post-administration.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
April 2023 in “Journal of the American Academy of Dermatology” This study aimed to evaluate the outcomes of switching between two JAK inhibitors, tofacitinib and baricitinib, in treating alopecia areata, due to the lack of data on their comparative efficacy.
January 2026 in “Frontiers in Public Health” This study observed distinct post-marketing safety signal patterns for baricitinib and tofacitinib in adult AA, influenced by their differing regulatory uses and real-world contexts, and emphasizes the need for future studies to validate these findings.
1 citations
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March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
62 citations
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March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.