January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
April 2017 in “Journal of Investigative Dermatology” Cow milk sugars increase fat production and inflammation in skin oil cells.
April 2017 in “Journal of Investigative Dermatology” Triptolide effectively and safely reduces actinic keratosis lesions in mice.
April 2017 in “Journal of Investigative Dermatology” Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
April 2017 in “Journal of Investigative Dermatology”
54 citations
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November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
March 2021 in “Research Society and Development” A blue Staffordshire Bull Terrier had hair loss due to color dilution alopecia, confirmed by tests, but no treatment was pursued.
150 citations
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November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
75 citations
,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
56 citations
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December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
40 citations
,
January 2016 in “Elsevier eBooks” The skin is the largest organ, protecting the body, regulating temperature, and producing hormones.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
9 citations
,
July 2021 in “Dermatology and Therapy” New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” A new system helps better diagnose and treat female androgenization conditions like PCOS.
7 citations
,
April 2011 in “Expert review of dermatology” The document concludes that patients with skin of color need specialized dermatological care and education to manage unique skin conditions effectively.
6 citations
,
November 2021 in “Frontiers in immunology” STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Immune cells are essential for early hair and skin development and healing.
January 2018 in “Online Publication Service of Würzburg University (Würzburg University)” EpiLife® media and younger donor age improve artificial skin model quality.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.