6 citations
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May 2022 in “Frontiers in physiology” Injecting CHIR-99021 into goose embryos improves feather growth by changing gene activity and energy processes.
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.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
Removing SIX1 in fat cells reduces skin fibrosis.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Immune cells are essential for early hair and skin development and healing.
October 2007 in “Journal of Investigative Dermatology” The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
100 citations
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November 2021 in “Cell Research” Cepharanthine and Trifluoperazine are effective against SARS-CoV-2.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
156 citations
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August 2016 in “Journal of controlled release” Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
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.
85 citations
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September 2013 in “International Journal of Molecular Sciences” Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
75 citations
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November 2016 in “Medicines” Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
14 citations
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January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
2 citations
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November 2019 in “Cancer reports” The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
October 2020 in “Veterinary Dermatology” New treatments and diagnostic methods for various animal skin conditions showed promising results.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
15 citations
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April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
67 citations
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June 2019 in “Proceedings of the National Academy of Sciences” A new 3D culture system helps grow and study mouse skin stem cells for a long time.
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.