January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
13 citations
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February 2025 in “ChemMedChem” This review highlights recent advancements in lipid nanoparticle technology for delivering genetic material and treating various diseases, but notes challenges in manufacturing, stability, and safety evaluations.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.
January 2015 in “Springer eBooks” Hair health is influenced by genetics, aging, and environmental factors, with proper care needed to maintain it.
16 citations
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March 2021 in “EvoDevo” This study found that zebrafish and sticklebacks, despite differences in their tooth regeneration structures, share a similar genetic program during tooth regeneration, suggesting a conserved "successional dental epithelium" in vertebrates.
92 citations
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May 2014 in “The American Journal of Medicine” This review discusses the multi-system impacts of polycystic ovary syndrome and explores evaluation and treatment strategies, but it reports no new research findings.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
56 citations
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October 2018 in “Journal of The American Academy of Dermatology” This review discusses the role of androgens in women's skin-related conditions like acne, hirsutism, and female pattern hair loss, noting the lack of dermatology guidelines for when to pursue endocrinologic evaluation.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
September 2021 in “Chinese Journal of Dermatology” This review summarizes research advancements in the pathogenesis, diagnosis, evaluation, and treatment of androgenetic alopecia in 2020, but reports no new clinical findings.
February 2018 in “Medical Hypotheses” This article suggests that male pattern hair loss might have historically served as an evolutionary signal for women to choose younger male partners, potentially improving population fitness.
49 citations
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June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
47 citations
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February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.
991 citations
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January 2011 in “Nature Reviews Endocrinology” This paper reviews the diagnostic criteria, associated morbidities, and possible evolutionary advantages of polycystic ovary syndrome, but does not report any new findings.
38 citations
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June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” This article reviews various topics discussed at a workshop on hair disorders, focusing on hair biology, diagnosis, and challenges in therapy evaluation, without presenting new clinical findings.
20 citations
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January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
5 citations
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May 1994 in “Facial plastic surgery clinics of North America” This article reviews the clinical characterization and potential treatments for androgenetic alopecia, highlighting minoxidil's efficacy in hair regrowth and noting the need for further genetic research; it reports no new clinical results.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
December 2025 in “Agriculture” In this research, sequencing the chloroplast genomes of 10 Sansevieria trifasciata cultivars allowed the identification of a trnT-psbD deletion marker capable of distinguishing closely related species, and highlighted evolutionary links with Dracaena, contributing molecular tools for taxonomy and phylogenetic studies in Asparagaceae.
1 citations
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July 2023 in “Cureus” This article examines advancements in understanding and managing androgenic alopecia (male pattern baldness), discussing genetic and psychological factors, diagnostic methods, classifications, and various treatment options, including traditional and emerging therapies, to aid healthcare professionals in making informed treatment decisions.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
According to this review, frontal fibrosing alopecia in men exhibits unique clinical features and is often misdiagnosed, underscoring the need for validated diagnostic criteria and treatment evaluation.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
September 2024 in “PubMed” This source provides an overview of different types of hair loss and their treatments, emphasizing the importance of comprehensive evaluation and patient education in managing conditions like androgenetic alopecia and alopecia areata, to address related psychological impacts and improve quality of life.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.