30 citations
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June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
November 2025 in “Fertility Gynecology and Andrology” This study highlights that polycystic ovary syndrome develops through genetic and environmental factors, with insulin resistance as a key mechanism, impacting the risk of metabolic and cardiovascular conditions.
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 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
June 1996 in “Irish Journal of Medical Science (1971 -)” This study found a statistically significant increase in glycosylated hemoglobins among patients with adult-acquired panhypopituitarism undergoing long-term GH replacement therapy, with two developing diabetes requiring treatment.
1744 citations
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August 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses definitions of polycystic ovary syndrome and reports no new clinical results; the authors support using modified 1990 NIH criteria and acknowledge ongoing evolution as research advances.
288 citations
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June 2009 in “Human reproduction update” This review examines various methods for assessing hair growth in women, highlighting the usefulness of the mFG visual scoring method for diagnosing hirsutism despite its limitations.
69 citations
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June 2017 in “Experimental Biology and Medicine” This review discusses the advancements and challenges in developing in vitro human skin models incorporating components like vasculature for drug testing and disease research, but reports no new clinical results.
35 citations
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August 2021 in “npj Regenerative Medicine” This review examines how fibroblasts contribute to regeneration in various organs and explores the potential of reverting adult fibroblasts to a fetal-like state for regenerative therapies, but reports no new empirical findings.
28 citations
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May 2017 in “Molecular ecology” This study observed that in wild snowshoe hares, gene expression patterns during seasonal coat color change show a consistent lag between gene expression and visible coat color changes.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
17 citations
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June 2018 in “Sexual Medicine Reviews” In this review, the authors examined guidelines and literature on the non-operative treatment of gender dysphoria, highlighting the importance of personalized, multidisciplinary care, and noting that such treatment is generally safe and effective according to WPATH and Endocrine Society recommendations.
4 citations
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April 2021 in “Experimental and Molecular Medicine” This review examines host factors like ACE2 and TMPRSS2 in SARS-CoV-2 infection, exploring how genetic variants and advanced cellular analyses might clarify COVID-19's severity and heterogeneity; it reports no new results.
3 citations
,
May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
May 2026 in “International Journal of Veterinary Science” This study found that higher dihydrotestosterone (DHT) levels are associated with reduced crowing complexity in Kokok Balenggek roosters.
May 2026 in “The EMBO Journal” This study explores the complex mechanisms of skin aging, including cellular senescence and disrupted communication, and highlights rejuvenation strategies like gene expression rewiring and microbiome modulation, offering potential frameworks for regenerative therapies and precise interventions in skin and systemic aging.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
January 2024 in “Wiadomości Lekarskie” In this study, researchers developed a novel computational framework using deep reinforcement learning to identify strategies for cellular reprogramming in gene regulatory networks, showing its effectiveness in a model of immune response against infection.
October 2017 in “Springer eBooks” A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
The conclusion is that a more comprehensive and precise approach is needed for diagnosing PCOS to address its broader health risks.
March 2014 in “Fertility and Sterility” The April 2014 issue of "Fertility and Sterility" discussed various reproductive health topics, including hormone therapy benefits, sperm and genetic factors in male infertility, and the link between PCOS and diabetes.
January 2008 in “Durham e-Theses (Durham University)” This study observed that stem cells from the hair follicle dermis share similarities with bone marrow-derived mesenchymal stem cells and have potential to form neural-like cells under specific conditions.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
27 citations
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April 2013 in “Reviews in endocrine and metabolic disorders” The document concludes that using LC-MS/MS for measuring androgens is more accurate than older methods, but it needs careful validation and standardized references to be most effective.
26 citations
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November 2011 in “Arquivos Brasileiros De Endocrinologia E Metabologia” This review highlights that hyperandrogenism is a crucial factor for diagnosing PCOS during adolescence, while traditional criteria like polycystic ovarian morphology may be misleading.