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.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
March 2026 in “Microchemical Journal”
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
September 2023 in “Journal of the American Academy of Dermatology”
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
1 citations
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November 2022 in “Journal of Investigative Dermatology” This study found that ALRN-6924, a clinical-stage dual inhibitor, can selectively protect human scalp hair follicles from paclitaxel-induced toxicity and damage by inducing transient cell cycle arrest in healthy cells without affecting cancer cells, potentially reducing chemotherapy-induced alopecia.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
April 2025 in “Dermatologic Surgery” This article reports no new research findings and corrects the affiliation for Dr. Shao-Wen Li in a previous publication.
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.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
2 citations
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February 2024 in “Medicine” In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.
April 2011 in “Reactions Weekly” September 2025 in “Value in Health” 6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
November 2024 in “Journal of Investigative Dermatology” 15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
51 citations
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December 2006 in “Mammalian Genome” 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.
March 2025 in “Journal of Investigative Dermatology”
8 citations
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October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
40 citations
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December 2010 in “Human Genetics” November 2025 in “Journal of Investigative Dermatology”
July 2025 in “SKIN The Journal of Cutaneous Medicine” This study reported that ritlecitinib was generally well tolerated over 72 months in patients aged 12 and older with alopecia areata, with adverse events like headache and nasopharyngitis observed, and safety outcomes consistent with previous studies.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.