The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
14 citations
,
March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
5 citations
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December 2020 in “Gene” ANXA1 influences hair growth in mice through the EGF signaling pathway.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
280 citations
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January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
28 citations
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May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
33 citations
,
October 2006 in “European Journal of Immunology” The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
11 citations
,
February 2022 in “JAAD case reports” Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
20 citations
,
December 2013 in “PLoS ONE” β1 integrin is essential for the survival, growth, and movement of human epithelial progenitor cells.
7 citations
,
April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
September 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
191 citations
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November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
1 citations
,
October 2022 in “Biomedicines” Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
3 citations
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July 2017 in “Journal of Molecular Graphics & Modelling” The study found that baicalin has different stable shapes in gas and water, with two shapes better for interacting with positive charges in water.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.