January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
1 citations
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April 2017 in “Journal of Investigative Dermatology” D-OCT shows increased blood vessel growth in response to tissue damage in Frontal Fibrosing Alopecia and is useful for diagnosis and monitoring.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
March 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Vitamin D receptor is key to hair growth, not vitamin D itself.
1 citations
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April 2013 in “Journal of Investigative Dermatology” 19 citations
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December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
30 citations
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June 2010 in “Endocrine Related Cancer” SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
May 2024 in “Clinical and experimental optometry” 2 citations
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
February 2014 in “PubMed” Modified rat hair follicle stem cells can help create artificial hair follicles, blood vessels, and skin.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
13 citations
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August 2017 in “Journal of Cellular Physiology” PD‐L1 and PD‐L2 may not effectively control immune activation in alopecia areata.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
35 citations
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August 2004 in “Epilepsy & behavior” Extended-release divalproex is better tolerated and more effective for seizures and psychiatric symptoms than delayed-release divalproex, but doesn't reduce hair loss.
1 citations
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September 2017 in “Journal of Investigative Dermatology” Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
23 citations
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June 2012 in “Molecular Biology Reports” VEGF stimulates hair cell growth and increases growth receptor levels through a specific signaling pathway.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
April 2023 in “Journal of Investigative Dermatology” Sunlight simulation causes skin inflammation, with different skin types reacting at different levels of exposure.
12 citations
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November 2003 in “Journal of the American Academy of Dermatology” Topical diphencyprone helped regrow hair in mice and rats with a condition similar to human hair loss.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
November 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Understanding the 2D:4D digit ratio in vitiligo patients may help in clinical assessments.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
14 citations
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January 2006 in “Skinmed” A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.