4 citations
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September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
8 citations
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June 2022 in “Scientific Reports” LGR5 is a common marker of hair follicle stem cells in different animals and is important for hair growth and regeneration.
7 citations
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June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
216 citations
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
September 2021 in “CRC Press eBooks” Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
PNH can occur in patients with SLE, so doctors should be aware of this.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
43 citations
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November 2019 in “PLoS ONE” MED23 and GNAQ genes are crucial for chicken feather color.
2 citations
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
1 citations
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October 2023 in “Journal of the Pakistan Medical Association” Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
September 2019 in “Journal of Investigative Dermatology” Mouse skin fibroblasts vary in function and adaptability based on their environment.
April 2019 in “Journal of Investigative Dermatology” Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
1 citations
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April 2017 in “Journal of Investigative Dermatology” D-OCT shows increased blood vessel growth in response to tissue damage in Frontal Fibrosing Alopecia and is useful for diagnosis and monitoring.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
April 2025 in “Australasian Journal of Dermatology” Daughters with affected mothers may develop frontal fibrosing alopecia early.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
January 2026 in “Journal of Clinical and Investigative Dermatology” A father and son in Yemen have a genetic condition causing hair loss and nail problems.