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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
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.
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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May 2023 in “Journal of Cancer Research and Clinical Oncology” CRISPR/Cas systems show promise for cancer treatment by targeting miRNAs, but delivery and specificity challenges remain.
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
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December 2018 in “Journal of cutaneous pathology” Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
October 2023 in “IBRO neuroscience reports” Rat hair follicle stem cells have functional oxytocin receptors, useful for studying neuropsychiatric disorders.
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June 2008 in “British Journal of Dermatology” 30 citations
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February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
Lack of Fgf21 slows hair growth by affecting gene interactions.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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June 2021 in “Journal of Korean Medicine for Obesity Research” Corni Fructus extract may help manage benign prostatic hyperplasia by reducing prostate cell growth and inflammation.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
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January 2013 in “MedChemComm” PF-05314882 selectively activates androgen receptors without much effect on prostate and may help in prostate cancer treatment and hair loss prevention.
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
March 2013 in “Pigment Cell & Melanoma Research” A gene called Taqpep affects cat coat patterns like stripes and blotches.
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October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.