103 citations
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October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
87 citations
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July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
79 citations
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December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
20 citations
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May 1985 in “British journal of nutrition” This study found that in genetically diabetic mice, supplementation with safflower or evening primrose oil prevented the decrease in certain fatty acids and improved skin conditions, but increased plasma glucose levels.
19 citations
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October 2017 in “The FASEB Journal” This study established an androgen-responsive human organ culture model using hair follicles, demonstrating that women's intermediate facial follicles grow more hair in response to men's higher androgen levels.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
7 citations
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March 2024 in “Skin Research and Technology” This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
4 citations
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August 2019 This study found that elevated free testosterone levels may reduce body fat and increase bone density in males, but also raise the risk of prostate cancer, hair loss, and benign prostate hyperplasia.
3 citations
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February 2022 in “Journal of Dermatological Science” This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.
2 citations
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September 2024 in “Skin Research and Technology” The study initially suggested a genetic link between thyroid issues and hair loss.
2 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reported the first paleogenomic data from Korea, revealing genetic diversity in ancient Koreans from the Gimhae region, with evidence of admixture between northern-Chinese Iron Age populations and Japanese-Jomon-related ancestry.
2 citations
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October 2021 in “Skin health and disease” This study found no significant epidemiological or genetic association between androgenetic alopecia and severe COVID-19 in a British cohort, but suggests shared genetic pathways may exist.
2 citations
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January 2014 in “Journal of the American Academy of Dermatology” This study found significant hair regrowth in male pattern baldness using 2% and 3% topical minoxidil solutions compared to placebo over a 4-month period.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
1 citations
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November 2014 in “British journal of medicine and medical research” This study investigated the inheritance patterns of PCOS and found that 33% of participants had metabolic syndrome, which was more prevalent in first-generation relatives.
1 citations
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December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
1 citations
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January 2008 in “Proceedings of the 9th World Rabbit Congress, Verona, Italy, 10-13 June 2008” This study found that androgenic hormone levels did not explain growth differences between furless and furred male rabbits, despite a potential growth advantage in furless rabbits.
August 2026 in “BMC Nephrology” In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
June 2026 in “Frontiers in Cell and Developmental Biology” In this study, researchers used single-cell RNA sequencing to map the hair follicle microenvironment in fine-wool sheep, identifying specific cell types and gene expressions that influence wool fiber diameter, with dermal papilla cells playing a significant role in hair follicle development.
February 2026 in “International Journal of Molecular Sciences” In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This case report describes a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy due to a SLC39A4 genetic mutation, showing clinical improvement in skin, hair, and zinc levels following zinc supplementation and highlighting the importance of early diagnosis and tailored treatment.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
December 2024 in “Medical Review” This review examined the role of organoid technology in modeling genetic diseases, highlighting its promise for understanding disease pathology and developing tailored treatments by integrating genetic insights with advancements in regenerative medicine and biological engineering.