6 citations
,
May 2016 in “Experimental Dermatology” This study by Flores and colleagues found that the type of tumor that develops in a specific subset of epidermal stem cells is influenced by which tumor suppressor gene is deleted.
15 citations
,
January 1987 in “Electrophoresis” This study found that electrophoretic keratin typing of head hair can identify specific polypeptide patterns, suggesting potential applications in genetic and forensic investigations.
89 citations
,
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.
1 citations
,
August 2023 in “Biomolecules” This study found that patients with alopecia areata and their healthy family members had elevated levels of Th1- and Th17-related cytokines, suggesting a genetic link in cytokine dysregulation.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
In this study, researchers identified three novel genetic loci associated with androgenetic alopecia, including one with significant association in females only, which may indicate a role for sex-specific genetic factors in patterned hair loss.
4 citations
,
May 2021 in “Journal of The American Academy of Dermatology” This study found no significant genetic correlations between male pattern baldness and COVID-19 outcomes, suggesting that shared genetic factors may not explain the reported association.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.
87 citations
,
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.
87 citations
,
May 2012 in “PLOS Genetics” This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
October 2025 in “Cosmetics” This study examines the genetic underpinnings of chronic dermatological conditions like acne, androgenetic alopecia, and alopecia areata, concluding that a deep understanding of these mechanisms can advance patient-specific treatments and inform cosmetic practices related to skin and hair health.
276 citations
,
December 2017 in “Journal of Dermatological Science” This review discusses the limitations of animal models, particularly mice, in accurately predicting human skin wound healing outcomes and emphasizes understanding species-specific differences in skin characteristics for better translation to clinical settings.
5 citations
,
January 2024 in “The International Journal of Developmental Biology” This article reviews the diversity of lymphatic endothelial cells, related gene targeting tools, and protocols in mouse models but presents no new experimental findings.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
11 citations
,
March 2018 in “Anais Brasileiros de Dermatologia” This article describes the DOAJ as a comprehensive index of diverse open access journals, emphasizing its commitment to freely providing quality content online, and reports no new findings.
4 citations
,
January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” This abstract reviews the characteristics and health risks associated with polycystic ovary syndrome and does not report new findings, highlighting the syndrome's multifactorial nature.
244 citations
,
September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
4 citations
,
January 2020 in “Frontiers in Physiology” This review discusses molecular signaling pathways and nutritional factors influencing feather growth and regeneration in poultry and offers no new results; the authors suggest these insights may guide strategies for producing superior plumage.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
October 2025 in “Editora Pasteur eBooks” The abstract discusses the multidisciplinary nature and advancement of dermatology and aesthetic procedures within the health sciences, emphasizing the integration of diagnostic, corrective, preventive, and therapeutic approaches, but does not provide specific study results.
51 citations
,
January 2003 in “Hormone Research in Paediatrics” This review discusses hormonal influences on hair growth and suggests that understanding hormone-gene interactions may improve treatment of hirsutism and alopecia, but reports no new clinical findings.
28 citations
,
August 2013 in “Hypertension” The authors concluded that diazoxide reduces undesirable side effects compared to minoxidil while increasing elastic fiber content and decreasing cell number in the aorta, suggesting potential suitability for treating vascular conditions with low arterial elastin and hypertension.
19 citations
,
August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.