101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
100 citations
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May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
19 citations
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March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
May 2025 in “Journal of Developmental Biology” Jawless vertebrates have teeth proteins similar to those in mammalian hair and nails.
489 citations
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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
228 citations
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June 2021 in “Frontiers in Immunology” Macrophage issues cause chronic wound inflammation, but therapies can help.
227 citations
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April 2020 in “Cell” More precise, personalized therapies are needed for autoimmune diseases.
226 citations
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May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
163 citations
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October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
133 citations
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June 2016 in “Nature Neuroscience” Zeb2 is crucial for nerve repair by controlling Schwann cell function.
129 citations
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October 2017 in “BMC Genomics” The study improved understanding of gene roles in cashmere goat hair growth, aiding future cashmere production.
101 citations
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November 2019 in “The Plant Cell” AtZP1 protein stops root hair growth in plants by blocking certain genes.
96 citations
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September 2021 in “International Journal of Molecular Sciences” Chitosan, a natural substance, can be used to create tiny particles that effectively deliver various types of drugs, but more work is needed to improve stability and control of drug release.
86 citations
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April 2009 in “Journal of anatomy” Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
83 citations
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January 2004 in “Pharmacology & Therapeutics” Adjusting neurosteroid levels may help reduce alcohol withdrawal symptoms.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
79 citations
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November 2016 in “EMBO Reports” Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
77 citations
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June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
68 citations
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May 2024 in “International Journal of Molecular Sciences” Personalized acne treatments and new therapies show promise for better results.
50 citations
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February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
49 citations
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December 2022 in “Pharmacological Reviews” Targeting androgen receptors shows promise for treating triple-negative breast cancer, but more research is needed.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.