15 citations
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April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
9 citations
,
August 2013 in “Archives of Dermatological Research” This study concluded that the expression of clock genes, specifically BMAL1, in hair follicles is linked to circadian rhythm, and BMAL1 regulates hair growth.
8 citations
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July 2019 in “Endocrine connections” This study found that post-finasteride syndrome patients showed a tissue-specific methylation pattern of the SRD5A2 promoter in cerebrospinal fluid, potentially affecting neuroactive steroid levels and related behavioral symptoms.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
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.
2 citations
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August 2024 in “Animal Bioscience” This study suggests that m6A-circHECA may influence the physiology of cashmere goats' SHFs both through miRNA pathways and interactions with target proteins, with promoter methylation potentially inhibiting its gene expression.
1 citations
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September 2023 in “Acta dermato-venereologica” In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.
October 2025 in “Scientific Reports” In this study of 131 healthy men aged 30 to 45, no relationship was found between androgen receptor gene polymorphisms related to androgen sensitivity and biological age markers, suggesting that other factors may influence the aging process independently of these genetic variations.
December 2024 in “Era s journal of medical research” This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
January 2009 in “Egyptian Journal of Medical Human Genetics” This study, conducted among Egyptians, found a borderline significant association between the Stul polymorphism of the androgen receptor gene and androgenetic alopecia in males, with higher androgen receptor expression in balding scalp areas.
July 2025 in “Journal of medical & health sciences review.” This review highlights the potential of ultrasound-assisted gene therapy for tissue regeneration by improving gene delivery efficiency through techniques like microbubble-mediated sonoporation. The authors discuss its applications in musculoskeletal, cardiovascular, and neural regeneration, while addressing future challenges in optimizing this non-invasive approach for clinical applications.
26 citations
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November 2009 in “Journal of Endocrinological Investigation” This study found no significant difference in the CAG and GGN repeat lengths between infertile and fertile men in Nigeria, but identified a unique GGN allele distribution in the Nigerian population compared to Caucasians.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
5 citations
,
January 2015 in “Genetics and Molecular Research” This study found that gene-regulatory interactions among parental alleles contribute significantly to heterosis in early stages of maize development, with many differentially expressed genes showing non-additive expression in hybrids.
June 2026 in “Scientific Reports” This study found that nestin-expressing hair follicle-derived cells express higher levels of certain neurotrophic factors and neural markers, indicating potential for neuroregenerative therapy applications.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
26 citations
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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.
2 citations
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January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
58 citations
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January 2013 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that sexual dimorphism in adipose tissue functions may be linked to androgen levels, as women with PCOS demonstrated a more masculine adipokine expression pattern.
27 citations
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April 2017 in “British Journal of Dermatology” This study identified overexpression of certain immune-related genes and underexpression of genes in specific signaling pathways in premature androgenetic alopecia, suggesting potential new therapeutic targets.
24 citations
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November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
1 citations
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May 2023 in “Journal of molecular evolution” This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.
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.
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
51 citations
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June 2021 in “Signal Transduction and Targeted Therapy” This review article summarizes recent strategies to enhance the precise control of CRISPR/Cas9 gene editing, addressing tissue-specific challenges and off-target effects by exploring various activation methods like cell-specific promoters and small molecules.