April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2006 in “Chieh P'ou Hsueh Pao” A method was found to select hair follicle stem cells, and beta-catenin helps them grow and change.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
8 citations
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January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
6 citations
,
September 2015 in “Journal of Medicinal Chemistry” The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
18 citations
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
88 citations
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March 2004 in “Journal of Investigative Dermatology”
48 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
11 citations
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October 2002 in “The Journal of Clinical Endocrinology & Metabolism” Enzyme activities do not cause early pubic hair in these girls.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
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January 2015 in “China Animal Husbandry & Veterinary Medicine” Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
1 citations
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January 2020 Ift20 is essential for hair follicle function and skin cell movement.
April 2018 in “Journal of Investigative Dermatology” Ceramide synthase 4 is essential for maintaining skin barrier health.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
93 citations
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March 2017 in “Molecular Plant” CNGC14 is crucial for calcium entry needed for root hair growth in plants.
4 citations
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August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.