1 citations,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
450 citations,
January 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair color is determined by melanin produced and transferred in hair follicles.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
160 citations,
April 2008 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” DHT in the human prostate is produced through multiple pathways, not just from testosterone.
154 citations,
November 2017 in “Development” Fibroblast Growth Factors (FGFs) are important for tissue repair and regeneration, influencing cell behavior and other factors involved in healing, and are crucial in processes like wound healing, bone repair, and hair growth.
151 citations,
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.
131 citations,
September 2017 in “Molecular and Cellular Endocrinology” The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
107 citations,
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.
78 citations,
January 2006 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
77 citations,
September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
72 citations,
November 2017 in “Journal of developmental biology” The Hedgehog signaling pathway is important for skin and hair growth and can lead to cancer if it doesn't work right.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
50 citations,
February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
41 citations,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
35 citations,
December 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
33 citations,
August 2016 in “Indian Journal of Dermatology, Venereology and Leprology” Dutasteride is more effective than finasteride at increasing hair count and reversing hair thinning in men with hair loss, but both have similar side effects.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
28 citations,
September 2021 in “EMBO reports” Osthole inhibits the TRPV3 channel by binding to specific sites, potentially aiding drug development for skin diseases and cancers.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
25 citations,
November 2020 in “Experimental eye research/Experimental Eye Research” Different types of cells in the eye express specific keratins at various stages of development.
25 citations,
July 2016 in “Molecular biology of the cell” A protein in plants needs to bind two lipids to help with root hair growth, and this process is similar across different plant species.
23 citations,
December 2021 in “Frontiers in Immunology” IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
21 citations,
January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.