January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
21 citations
,
October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
July 2025 in “Journal of Investigative Dermatology” February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
1 citations
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March 2022 in “Journal of Dermatological Science” Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
September 2017 in “Journal of Investigative Dermatology” Hair follicle cells change their DNA packaging during growth cycles and when grown in the lab.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
1 citations
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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.
40 citations
,
December 2010 in “Human Genetics”
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
6 citations
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.