20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
1 citations
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August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
August 2024 in “Clinical & experimental pathology” Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
1 citations
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June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
January 2026 in “China CDC Weekly” Large language models can accurately identify monkeypox from medical records.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
1 citations
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August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
142 citations
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August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
June 2011 in “European Journal of Pediatric Dermatology” An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
8 citations
,
January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
February 2023 in “Frontiers in Endocrinology” Too much male hormone in mothers can negatively affect the sexual behavior of both male and female baby mice.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
January 2026 in “Scientific Reports” PCOS involves immune and genetic factors, with key roles for T cells and specific genes.