5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
January 2026 in “Burns & Trauma” NLRP3 helps control inflammation and repair in wound healing, making it a potential target for treatment.
18 citations
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October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
January 2023 in “Dermatology” Ageing and increased senescent cells significantly contribute to common hair loss.
201 citations
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May 2001 in “Proceedings of the National Academy of Sciences” Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
102 citations
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April 2014 in “PloS one” Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
August 2020 in “Research Square (Research Square)” Oxygen levels affect hair growth and color cells differently when they interact directly.
April 2019 in “Journal of Investigative Dermatology” The humanized AA mouse model is better for testing new alopecia areata treatments.
42 citations
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January 2014 in “BMC Genomics” Cetaceans lost hair genes to adapt to water.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
14 citations
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January 2021 in “Stem cell research & therapy” Human skin cells with stem-like features can help create new hair follicles and sebaceous glands when combined with other cells.
2 citations
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October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
April 2023 in “Medizinische Genetik” Male-pattern hair loss is largely influenced by genetics, with key genes identified.
25 citations
,
August 2017 in “Frontiers in Zoology” Marine mammals lost many α-keratin genes, aiding their adaptation to aquatic life by becoming hairless.
12 citations
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May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
February 2026 in “Expert Review of Endocrinology & Metabolism” Early identification and personalized treatment of skin issues in PCOS are crucial for better outcomes.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
October 2022 in “International journal of dermatology and venereology” A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
353 citations
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November 2014 in “Molecular immunology” Porcine skin is very similar to human skin, making it a useful model for research.
56 citations
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November 2022 in “Biomolecules” Targeting macrophages may improve wound healing.
PCOS may be linked to spina bifida in young females.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
44 citations
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January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
24 citations
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August 2020 in “JAMA dermatology” Persistent radiation-induced hair loss is dose-dependent, and treatments like topical minoxidil can be effective.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
July 2022 in “JEADV Clinical Practice” The document concludes that different types of permanent hair loss conditions are related and early treatment is key to preventing further damage.