January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
131 citations
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March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
October 1890 in “Science” Pilocarpin can cause hair regrowth and color change in some cases but not in others, and it may have side effects in animals.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
15 citations
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June 2021 in “Medicina” Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
24 citations
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September 2018 in “Lasers in Surgery and Medicine” Multiphoton microscopy can non-invasively tell apart scarring from non-scarring hair loss and could aid in treatment.
September 2018 in “CRC Press eBooks” Hair and nail disorders can cause changes in scalp pigmentation, especially with sun exposure and alopecia.
January 2022 in “Skin appendage disorders” Trichoscopy effectively visualizes scalp micropigmentation without invasive methods.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
March 2015 in “Journal of Visualized Experiments” A new method measures mouse hair loss using shades of gray.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
Meis2 is essential for touch sensation and nerve function in mice.
1 citations
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December 2019 in “Canadian journal of ophthalmology” A girl with type 1 diabetes developed a serious eye condition very early, suggesting the need for earlier eye checks and that early treatment can work well.
9 citations
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September 2022 in “Frontiers in Physics” The technique accurately identifies and evaluates hair follicle structures in skin.
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
October 1967 in “Archives of Dermatology” A 42-year-old woman had a scalp lesion that didn't cause hair loss and showed specific changes under a microscope.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
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2 citations
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January 2013 Metformin improves acne, hair growth, and menstrual cycles in females with PCOS.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
3 citations
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April 2010 in “Clinical Neuropharmacology” Finasteride helps treat eyelid spasms.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
2 citations
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March 2018 in “The Journal of Dermatology” The "color-transition sign" helps tell apart alopecia areata incognita from telogen effluvium by looking at hair color changes.
August 2020 in “Research Square (Research Square)” Enhanced stem cells can reduce fat buildup in eye tissue for Graves' disease.