August 2021 in “Journal of Investigative Dermatology” In this study, Rahim et al. found that keratinocyte differentiation requires changes in polyamine ratios mediated by AMD1, suggesting that targeting polyamine availability could be useful for treating hyperproliferative skin disorders.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
December 2016 in “Int J Genet” This review discusses the genetic factors and single nucleotide polymorphisms related to androgenic alopecia, emphasizing androgen receptors, but reports no new clinical results.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
198 citations
,
October 1986 in “Differentiation”
July 2024 in “Experimental Dermatology” This study suggests that APC collagen peptides may accelerate hair growth and promote overall hair health by enhancing cellular proliferation and activating specific signaling pathways in human and mouse models.
34 citations
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January 2000 in “Journal of Andrology” This study found no difference in CAG repeat length between Chinese and Australian men, refuting the hypothesis that this polymorphism and central prostate zone volume are markers of long-term androgen sensitivity.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
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.
In this study, a clear pattern of selective sweep was observed for the SLC24A5 gene, with high linkage disequilibrium and low haplotype diversity, but no clear correlation with UV radiation intensity was found.
36 citations
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October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study identified several genetic variants associated with cattle hair coat length, which may help breed more heat-tolerant animals by facilitating efficient heat loss.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
25 citations
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January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
March 2023 in “Journal of Cosmetic Dermatology” This study in Japanese women identified SNP rs2419385 as significantly associated with hair thinning, suggesting potential involvement of nearby genes in its development.
July 2023 in “The Keio Journal of Medicine” In this review, researchers highlighted the prevalence of hereditary hair diseases in the Japanese population, emphasizing the significant impact of LIPH gene variants on autosomal recessive woolly hair and the importance of continued research to better diagnose and manage these disorders.
November 2020 in “Дерматовенерология, косметология” This study found that among men with androgenetic alopecia, the M-type pattern, either isolated or combined with others, was observed most frequently, using the BASP classification.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
26 citations
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October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
March 2024 in “Bioscientia medicina” In this study, rs6152 was not significantly associated with androgenetic alopecia in the Indonesian population, but familial history and factors like age, gender, hypertension, and BMI were strongly linked to AGA risk.
1 citations
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May 2025 in “Fayoum University Medical Journal/Fayoum University Medical Journal ” This systematic review reported an association between specific interleukin gene polymorphisms (IL-17A, IL-18, IL17RA, and IL16) and alopecia areata, suggesting further genetic studies are needed to confirm the interleukins' role in the disorder's progression.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
This study identified the combination of NCBP3, SDHA, and PTPRA as stable reference genes for normalizing gene expression in goat skin tissue research.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
4 citations
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June 1990 in “PubMed” This review discusses the variability of hair protein keratin in forensic hair comparison, focusing on species identification and individual discrimination, but it reports no new results.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
14 citations
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January 1998 in “Dermatology” This study found evidence that polythelia pilosa, previously excluded from classification, should be reintroduced as it marks true aberrant mammary structures in men and hirsute women.