December 2017 in “Elsevier eBooks” The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
37 citations
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May 2016 in “JAAD case reports” Oral minoxidil shows promise in treating monilethrix-related hair loss.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
10 citations
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April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
April 2017 in “Journal of Dermatological Science” Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
1398 citations
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
479 citations
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January 2005 in “BioEssays” Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
273 citations
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May 2017 in “The Lancet” Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
260 citations
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December 2012 in “Cold Spring Harbor Perspectives in Biology” Wnt signaling is crucial for skin development and health, and its disruption can cause skin diseases.
234 citations
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April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
211 citations
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
173 citations
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May 2001 in “Human reproduction update” Oestrogens are key for bone growth during puberty in both boys and girls.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
144 citations
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August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
125 citations
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September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.