6 citations
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April 2017 in “Experimental dermatology” CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.
Hair germ cells differ from epidermal cells in keratin expression, and specific keratins form after hair differentiation.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
13 citations
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June 2020 in “International Journal of Molecular Sciences” HNG helps hair grow by keeping hair in the growth phase longer.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
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January 2007 in “International journal of experimental pathology” Hairless HRS/J mice resist Bacillus anthracis skin infections due to high numbers of immune cells, not because they lack hair follicles.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
194 citations
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May 2000 in “Journal of Investigative Dermatology” The hedgehog signaling pathway is crucial for hair growth but not for the initial creation of hair follicles.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
104 citations
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July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
April 1996 in “Journal of Dermatological Science” 8 citations
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
159 citations
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October 1986 in “The Histochemical Journal”
Farudodstat can prevent hair follicle immune damage linked to alopecia areata.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
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.