7 citations
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January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
7 citations
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July 2014 in “Reproductive Biomedicine Online” This study found that, among fertile egg donors, the AR gene CAG polymorphism was associated with differences in antral follicle count but did not impact ovarian response to gonadotrophins.
7 citations
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January 1995 in “Journal American Society of Mining and Reclamation” This review discusses the forms of selenium and sulfur in soil, their plant absorption, and risks of toxicity to livestock, emphasizing selenium's role in selenosis and sulfur's link to polioencephalomalacia in ruminants; it reports no new experimental results.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
4 citations
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May 2013 in “Annals of Plastic Surgery” In this case report, the authors found that hair transplantation on a free microvascular flap may be a viable and effective option for achieving good aesthetic outcomes when treating residual alopecia following reconstruction of large scalp defects.
3 citations
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June 2023 in “Cureus” This case study describes a 4-year-old boy whose neck tumor was initially misdiagnosed as scrofuloderma before being correctly identified as a pilomatricoma, underscoring the need to include pilomatricoma in differential diagnoses for persistent skin lesions.
3 citations
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January 2020 in “Acta Dermato Venereologica” This clinical case report presents photographs of a patient with Netherton syndrome, highlighting severe inflammatory vegetative lesions on the pubic area and umbilicus.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
1 citations
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January 2020 in “Recent Research in Genetics and Genomics/Recent Research in Genetics and Genomics ” In this study, high doses of Lepidium sativum seeds extract were reported to cause toxicity and tissue damage in animals, suggesting the need for careful use under medical supervision.
1 citations
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August 2019 in “Pediatric dermatology” This study reports that topical minoxidil 5% foam may effectively promote hair growth in congenital alopecia and hypotrichosis linked to desmoplakin mutations, as demonstrated by significant hair growth in an 8-year-old boy.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
1 citations
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February 2009 in “Journal of Investigative Dermatology” This study found that VEGF-deficient keratinocytes can form tumors using different aneuploidy and signaling patterns, highlighting VEGF's role beyond angiogenesis in tumor cell growth and survival.
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.
December 2025 in “Journal of Pakistan Association of Dermatologists” This case report highlights a rare instance of erosive pustular dermatosis of the scalp in a patient on afatinib, underlining the importance of early recognition and management of this adverse effect.
October 2025 in “Scientific Reports” In this study of 131 healthy men aged 30 to 45, no relationship was found between androgen receptor gene polymorphisms related to androgen sensitivity and biological age markers, suggesting that other factors may influence the aging process independently of these genetic variations.
August 2025 in “Endokrynologia Polska” A rare pancreatic tumor caused a woman's male-like features, treated successfully with surgery and medication.
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.
April 2024 in “Journal of cancer research and clinical oncology” This review discusses the isolation, characterization, and potential clinical applications of tissue-derived extracellular vesicles in cancer diagnosis, prognosis, and treatment, noting their significance but highlighting the risks and need for appropriate protocols.
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.
January 2024 in “Surgical & Cosmetic Dermatology” This review discusses recent research on exosomes' role in dermatology, highlighting their involvement in skin diseases and rejuvenation and exploring therapeutic possibilities in these areas.
August 2023 in “Research Square (Research Square)” This study found that among patients with inflammatory bowel disease, those with the NUDT15 mutation had a reduced tolerance for thiopurine dosage over the long term and were more likely to require hospitalization and surgery compared to those without the mutation.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
March 2023 in “Revista română de reumatologie” This article reviews the classification and treatment of cutaneous manifestations in systemic lupus erythematosus, highlighting the importance of monitoring for disease progression and reports no new clinical results.
January 2023 in “Frontiers in bioscience” This study suggests that Artemis, particularly phosphorylated at serine 516, may have roles in hair follicle growth by influencing differentiation, proliferation, apoptosis, and cell cycling.
June 2021 in “Research Square (Research Square)” This study found that non-small-cell lung cancer patients experienced less adverse events with third-generation EGFR-TKIs compared to first and second generations, although fear of cancer progression, anxiety, and depression were still prevalent.
January 2021 in “Journal of clinical and cosmetic dermatology” This review highlights the role of the skin's photosensory system in mediating responses to UVA radiation, contributing both to immediate protective effects and to broader circadian and seasonal adaptations, but reports no new experimental results.
November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.