1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain interactions help prepare the androgen receptor for pairing and activation, which is important for its role in development and disease.
143 citations
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May 2002 in “PubMed” LGD1069 effectively prevents breast tumors in mice without toxicity.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
2 citations
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December 2022 in “PNAS nexus” SCD-153 shows promise as an effective topical treatment for alopecia areata.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
19 citations
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February 2013 in “Archives of Dermatological Research” May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
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May 2024 in “Cytotechnology”
April 2023 in “Journal of Investigative Dermatology” Krox20 (Egr2) is important for the function of epithelial stem cells.
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October 2024 in “Cell” 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.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The gp130 receptor helps in tissue regeneration and disease progression, and manipulating it could improve healing and prevent disease.
April 2021 in “Institutional Repositories DataBase (IRDB)” High-intensity red LED light boosts bone cell growth and mineralization.
IL-18 signaling helps mature Tregs move into the thymus.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
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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.
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January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
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July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
June 2026 in “Frontiers in Cell and Developmental Biology” LHX2 is crucial for development, tissue repair, and preventing diseases.
1 citations
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” A new type of nerve cell involved in itch perception was discovered.