Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
28 citations
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November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
7 citations
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
29 citations
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January 2013 in “International Journal of Medical Sciences” Wnt10b helps hair follicle cells mature and produce pigment.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
243 citations
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October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
July 2024 in “Journal of Investigative Dermatology” PP405 may help hair growth by activating hair follicle stem cells.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
6 citations
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
December 1963 in “Medical Entomology and Zoology” Wnt1a from stem cells boosts hair growth and regeneration in mice.
9 citations
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August 2018 in “Biomedical dermatology” A peptide called DPS-1 helps human scalp cells grow and stimulates hair growth in mice.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” NLRP1 helps melanoma tumors grow by boosting inflammasome activation and reducing caspase-3 activity.
June 2021 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The skin basement membrane is specialized for different tissue interactions, important for hair growth and attachment.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
January 2009 in “Bradford Scholars (University of Bradford)” BMP signaling helps prevent skin tumors by blocking cancer-promoting pathways.
December 2025 in “Animals” TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
2 citations
,
January 2025 in “Development” BMP5 is essential for ear cartilage cell growth in rodents.
December 2025 in “International Journal of Molecular Sciences” Bacopa procumbens extract may help protect the brain in Parkinson's disease.
22 citations
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” YAP1 is important for skin regeneration and may affect skin disorder treatments.
September 2016 in “Journal of Dermatological Science” Wnt-10b is important for keeping mouse skin cells healthy for hair growth.