77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
116 citations
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April 1986 in “The journal of cell biology/The Journal of cell biology” Trichohyalin is a protein in hair follicles that helps form hair filaments.
28 citations
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November 2013 in “Cell and Tissue Research” 72 citations
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May 1993 in “The Journal of Cell Biology” Trichohyalin in sheep hair follicles may help with structure and calcium binding.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
18 citations
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December 2009 in “Canadian Journal of Animal Science” The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
8 citations
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January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
14 citations
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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.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
28 citations
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August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
16 citations
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June 1992 in “Journal of Investigative Dermatology”
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
57 citations
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January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
40 citations
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December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.