November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
21 citations
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September 2008 in “Magnetic Resonance Imaging” MRI can effectively image skin structures noninvasively.
May 2025 in “VETERINARY SCIENCE TECHNOLOGIES OF ANIMAL HUSBANDRY AND NATURE MANAGEMENT” Poor-quality feed and low vitamin A cause reproductive issues in nutrias.
October 2021 in “Operative techniques in otolaryngology--head and neck surgery” The document concludes that various surgical techniques and postoperative care are used to protect eye health, improve vision, and restore facial balance in people with facial paralysis.
822 citations
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January 2021 in “Genome biology” scMC effectively separates biological signals from technical noise in single-cell genomics data.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
7 citations
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September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
22 citations
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February 2008 in “Journal of Neurochemistry” Minoxidil prevents serotonin loss from MDMA by affecting potassium channels and increasing Akt phosphorylation.
1 citations
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October 2013 The framework helps develop medical apps on mobile devices to reduce reliance on desktop computers.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
17 citations
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January 1998 in “Neurourology and Urodynamics” Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
10 citations
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
26 citations
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July 2007 in “Wound Repair and Regeneration” MRL/MpJ mice heal burns slower with more scarring and less tissue regeneration than BALB/c mice.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
December 2025 in “Cell Communication and Signaling” Minoxidil may help treat myelodysplastic syndrome without harming normal blood cell production.
25 citations
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June 2018 in “Clinical and Experimental Dermatology” Combined microneedling and minoxidil improves hair growth more than minoxidil alone.
December 2023 in “British journal of oral & maxillofacial surgery/British journal of oral and maxillofacial surgery” PRP may help in third molar surgery recovery.