26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
1 citations
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February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
7 citations
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December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 42 citations
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February 2000 in “Journal of Investigative Dermatology” Type VII collagen absence helps skin development by allowing tissue remodeling.
September 2017 in “Journal of Investigative Dermatology” The Siah1 and Siah2 genes are active in mouse skin development and hair growth, especially right after birth.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
252 citations
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January 1991 in “Electron Microscopy Reviews” 118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
January 2025 in “SSRN Electronic Journal”
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
5 citations
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October 2002 in “PubMed” Human hair keratin scaffolds help repair injured muscles by breaking down and activating muscle cell growth.
19 citations
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January 2009 in “International review of cell and molecular biology” Hair's strength and flexibility come from its protein structure and molecular interactions.
7 citations
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July 2018 in “Stem cell research” Hair samples can be used to create stem cells easily and non-invasively.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
1 citations
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January 2019 in “PubMed” cgVEGF164 boosts hair follicle growth in mice.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
25 citations
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January 2013 in “Journal of Cell Science” Tenascin-C and tenascin-W help control stem cell movement and growth in whisker follicles.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
April 2019 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
3 citations
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August 2012 in “Nature Cell Biology” Certain proteins help nerve cells branch, and other findings relate to cancer, stem cell behavior, and cell division.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 38 citations
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February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.