May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
5 citations
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November 2020 in “medRxiv (Cold Spring Harbor Laboratory)” In this study, the authors reported that dutasteride significantly reduced total remission time for COVID-19 symptoms in men compared to placebo, especially for fatigue and loss of taste or smell.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
41 citations
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February 2021 in “Cureus” In this study, Proxalutamide significantly increased the rate of viral clearance and reduced clinical remission time in patients with mild to moderate COVID-19 compared to placebo.
41 citations
,
February 2021 in “Cureus” This study found that in males with mild COVID-19, treatment with dutasteride, along with standard therapy, may reduce viral shedding and inflammation compared to placebo.
5 citations
,
July 2021 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that proxalutamide treatment significantly reduced 30-day hospitalization rates in women with mild-to-moderate COVID-19 compared to placebo, with no safety issues identified.
4 citations
,
March 2022 in “Journal of Infection” This study suggests that anti-androgen therapy may reduce the risk of SARS-CoV-2 infection and associated mortality, though results were not consistently supportive across all studies analyzed.
April 2022 in “International journal of respiratory and pulmonary medicine” The authors propose that higher testosterone levels in hospitalized COVID-19 patients might be associated with worse outcomes.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
5 citations
,
January 2018 This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” This study found that TRPA1-deficient mice exhibited normal cold sensitivity but had decreased mechanical response in nociceptors, suggesting TRPA1's role in mechanotransduction.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
21 citations
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October 2017 in “Cell death and disease” This study found that the absence of the stress-responsive protein Sesn2 increased hair cell susceptibility to gentamicin in the inner ear, indicating Sesn2's potential protective role against aminoglycoside-induced damage.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
10 citations
,
September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
59 citations
,
November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
1 citations
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March 2022 in “Irish Journal of Medical Science” This study suggests that the Gabrin sign and hypertension in male patients are associated with a worse prognosis for COVID-19.
October 2025 in “Influenza and Other Respiratory Viruses” This study found that bis-benzylisoquinoline and Amaryllidaceae alkaloids, especially aromoline, show potential as antiviral agents, suggesting they could serve as foundations for developing new treatments against coronaviruses by enhancing the understanding of their structure-activity relationships.
February 2024 in “Indian Dermatology Online Journal” In this study, researchers at a tertiary care center reported a significant correlation between severe COVID-19 cases and the presence of androgenic alopecia, suggesting that androgen receptor expression may influence COVID-19 severity.