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.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
March 2026 in “Archives of Dermatological Research” People with androgenetic alopecia may have a higher genetic risk for cardiovascular diseases.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
68 citations
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October 2008 in “Archives of dermatological research” Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
17 citations
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December 2020 in “Journal of Genetic Counseling” This review outlines best practices for providing culturally competent care to transgender patients and discusses considerations for assessing disease risk, but reports no new research findings.
66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
38 citations
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September 2021 in “Signal Transduction and Targeted Therapy” This review discusses genetic factors contributing to susceptibility and outcomes in COVID-19, including ACE, ACE2, TMPRSS2 variants, HLA genotype, and ABO blood group, but reports no new experimental results.
29 citations
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March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
1 citations
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June 2022 in “The Egyptian Journal of Hospital Medicine” This review discusses the epidemiology, clinical characteristics, pathogenesis, and genetic factors of alopecia areata, while stressing the need for targeted and effective treatments, but reports no new clinical results.
44 citations
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January 1999 in “Advances in pharmacology” This chapter reviews recent findings on androgen receptor function, structure, and interactions, highlighting post-translational modifications and mutations related to prostate cancer, but reports no new experimental results.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study found that generic quality of life questionnaires, like the SF-36 and DLQI, are not sensitive enough to detect differences in health-related quality of life between patients with varying severity of alopecia areata.
3 citations
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March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
50 citations
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May 2018 in “International journal of cardiology” This study found associations between genetic predictors of increased testosterone and cardiovascular risk factors, but the implications for testosterone supplementation are unclear due to uncertainties in genetic variant functions.
1 citations
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January 2025 in “JEADV Clinical Practice” This study reported that the AAPPO tool effectively distinguishes between patients with alopecia areata based on scalp hair loss severity, whereas the EQ‐5D‐5L may underestimate the specific disease burden, particularly in psychological and social aspects.
26 citations
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September 2020 in “Journal of the European Academy of Dermatology and Venereology” This publication is a letter discussing the association between an androgen receptor genetic variant and COVID-19 disease severity in hospitalized male patients, but it reports no new research results.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
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.
March 2026 in “Journal of Personalized Medicine” In this study involving South African breast cancer patients, researchers identified certain genetic variations in cytochrome P450 and other enzymes potentially linked to differences in tamoxifen treatment outcomes, suggesting a need for more comprehensive pharmacogenomic studies to optimize therapy in African populations.
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 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This conference abstract summarizes discussions on human genetics and genetic diseases but reports no new research findings.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
October 2021 in “QJM: An International Journal of Medicine” This study concluded that smoking, stress, obesity, family history, exercise, hypertension, and unbalanced diet are significant non-genetic factors associated with androgenetic alopecia in Egyptian males.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.
85 citations
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June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
62 citations
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January 2015 in “Journal of Dermatological Science” This review summarizes the current genetic research on alopecia areata, including potential new therapeutic strategies, but reports no new clinical findings.