81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
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.
2 citations
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January 2001 in “Biomedical Research” Trichohyalin and peptidylarginine deiminase type III are found together in rat hair follicles, with trichohyalin being modified after expression.
Retinoids can help treat skin pigmentation disorders by affecting melanin production.
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
7 citations
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January 1971 in “Archives of Dermatological Research” 67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
6 citations
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
April 2014 in “Investigative Ophthalmology & Visual Science” August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
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.
354 citations
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
5 citations
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September 2021 in “Journal of Medical Biochemistry” wAMD patients have higher oxidative stress, suggesting antioxidant treatment may help.
45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
13 citations
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October 2017 in “Bioorganic & Medicinal Chemistry” Optimizing the structure of a specific compound greatly improved its effectiveness and precision for treating diabetic complications.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
30 citations
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February 1996 in “Journal of Investigative Dermatology”
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.