January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
February 2026 in “Pediatric Dermatology” 6 citations
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March 1996 in “Journal of Investigative Dermatology” July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
Removing SIX1 in fat cells reduces skin fibrosis.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
28 citations
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June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
2 citations
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August 2023 in “Die Dermatologie” Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
42 citations
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August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” RXR-alpha is strongly expressed in both normal and psoriatic skin and may help in skin cell differentiation and hair growth.
7 citations
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April 2019 in “Animal biotechnology” The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
47 citations
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August 2016 in “American Journal Of Pathology” Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
3 citations
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July 2024 in “Skin Research and Technology”