December 2011 in “University of Southern California Digital Library” High BMP signaling disrupts hair growth and balance in skin cells.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
35 citations
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November 1931 in “Journal of Genetics” Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
33 citations
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May 2006 in “Journal of Investigative Dermatology” PTHrP and its receptor can control blood vessel growth and hair development in mouse skin.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
9 citations
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May 2002 in “PubMed” Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
250 citations
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November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
54 citations
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November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
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.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
11 citations
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May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
7 citations
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September 2024 in “BMC Genomics” Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
2 citations
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May 2019 in “International Journal of Molecular Sciences” Tranexamic acid turns white hair brown in certain mice by affecting specific proteins.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
51 citations
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December 2006 in “Mammalian Genome” 1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
7 citations
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October 2018 in “BMC genomics” Key genes can rewire networks, changing skin appendage types.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
4 citations
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June 2024 in “Animals” Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
10 citations
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December 2018 in “Journal of animal physiology and animal nutrition” Heat stress reduced hair growth and affected related genes in rex rabbits.