39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
December 2024 in “European journal of medical research” 117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
September 2023 in “Nature communications” Alk1 in specific cells is crucial for proper nerve branching and hair function.
57 citations
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April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
6 citations
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
May 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” β-Catenin is essential for new hair growth after skin injury.
60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
2 citations
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January 2020 in “Evidence-based Complementary and Alternative Medicine” Hataedock treatment improved skin health and reduced atopic dermatitis symptoms by enhancing the skin barrier and reducing inflammation.
14 citations
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January 2011 in “Journal of Cutaneous Pathology” CK15 is not a reliable marker for stem cells in damaged hair follicles from patients with CCCA.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
1 citations
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September 2017 in “Journal of Investigative Dermatology” Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
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.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Tet1, Tet2, and Tet3 are important for the development of hair follicles and determining hair shape by controlling hair keratin genes.
January 2004 in “uO Research (University of Ottawa)” Claudin 6 is crucial for normal skin and hair development.
24 citations
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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.