1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
11 citations
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April 2012 in “American Journal of Dermatopathology” This study confirms previous observations that benign lipogenic lesions may contain eccrine/apocrine glandular components, potentially due to adipocytic proliferation entrapping glandular structures.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
March 2026 in “Journal of Investigative Dermatology” 18 citations
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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.
9 citations
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April 2024 in “Metabolites” This study reviews the current research on the metabolomic profile and antimicrobial properties of the Cannabis plant, highlighting its effective antibacterial activity against multidrug-resistant bacteria while noting a lack of studies on its impact on plant and aquatic pathogens, emphasizing potential agricultural benefits.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
February 2026 in “Journal of Thoracic Disease” The authors highlight the need for further research into the link between SARS-CoV-2 variants and long COVID, emphasizing the importance of developing personalized therapies to tackle the significant medical and economic burdens posed by long COVID.
August 2025 in “Journal of Cosmetic Dermatology” This study reported significant short-term scalp hair regrowth and increased density in a 4-year-old with Marie Unna hereditary hypotrichosis following topical 5% minoxidil treatment, suggesting its potential benefit in this condition.
October 2024 in “Archives of Dermatological Research” 2 citations
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May 2023 in “Biology” This study developed and characterized new mouse models of Pemphigus that mimic different forms of the disease, but treatment with Methyl-Prednisolone showed only partial effectiveness.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
29 citations
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November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
23 citations
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December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
May 2026 in “Endocrine Connections” This review posits that alopecia in PCOS results from the interaction between local follicular signaling failures, insulin resistance, inflammation, and genetic predispositions, rather than solely from androgen excess, and recommends a systems-level framework for its management.
January 2026 in “Research” This review discusses advanced biomedical technologies, such as nanotechnology and stem cell-based approaches, for treating androgenetic alopecia, detailing their benefits, current applications, and challenges, without reporting new experimental results.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
August 2025 in “Frontiers in Pharmacology” In this study, PA-011, a traditional Chinese medicine extract, was shown to improve hair growth in alopecia areata model mice by reducing skin inflammation and altering skin microbiota, indicating its potential therapeutic role for this condition.
4 citations
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August 2022 in “International Journal of Molecular Sciences” This study found that cultured foreskin is not suitable for studying H2A.J-related tissue changes during radiation-induced dermatitis due to existing high H2A.J expression and cytokine secretion even without irradiation.
10 citations
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November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
4 citations
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December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
April 2026 in “Biomedical Research and Therapy” This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.