11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
March 2025 in “Journal of Investigative Dermatology”
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
1 citations
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November 2023 in “SKIN The Journal of Cutaneous Medicine” June 2026 in “British Journal of Dermatology” This audit of ritlecitinib prescribing for severe alopecia areata found that regional practices largely followed national guidelines but highlighted the need for better psychological assessments and more consistent use of SALT scoring to inform treatment continuation decisions after 36 weeks.
November 2023 in “Scientific reports” This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.
July 2025 in “Journal of Investigative Dermatology”
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
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.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
6 citations
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December 2021 in “International Journal of Endocrinology” This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.
1 citations
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November 1995 in “Postgraduate medical journal” This article presents a case of 5-alpha-reductase deficiency in a Saudi individual, reporting no new research findings.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
6 citations
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March 2020 in “Electronic Journal of Biotechnology” This study found that lncRNA-599554 contributes to the inductive ability of dermal papilla cells in cashmere goats by sponging miR-15a-5p, promoting Wnt3a expression, and potentially influencing hair follicle regeneration.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
1 citations
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August 2021 in “Journal of Investigative Dermatology” ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
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.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
December 2023 in “International Journal of Dermatology” This study found an increased risk of asthma and allergic rhinitis in individuals with hidradenitis suppurativa.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
November 2020 in “Journal of The American Academy of Dermatology” This study reported that using plain bottles instead of commercial kits for extracting platelet-rich plasma may be an effective method for treating hair loss.
July 2026 in “Journal of the American Academy of Dermatology” This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
10 citations
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August 2020 in “Drug metabolism and drug interactions” This case series found that patients with the NUDT15 415C>T variant experienced severe azathioprine toxicity, suggesting genotype-based dosing could reduce adverse effects.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
11 citations
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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 2006 in “Chinese Journal of Dermatology” This study suggests that polymorphisms in the androgen receptor gene's GGC repeat and the combined CAG-GGC triplet repeats are associated with androgenetic alopecia among Han men in Eastern China.
October 2025 in “Dermatology and Therapy” This study evaluates the efficacy and safety of a higher dose (100-mg) of ritlecitinib for treating severe alopecia areata, comparing it to external and synthetic placebo control groups.
3 citations
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June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.