4 citations
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September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
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.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
1 citations
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February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
61 citations
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February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
November 2022 in “Bioengineering” The method can test hair growth products using a lab-made hair-like structure that responds to known treatments.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
10 citations
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January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
26 citations
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January 1982 in “Hormone Research” Normal androgen levels need ACTH, and different mechanisms control adrenarche and gonadarche.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
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.
September 2025 in “Journal of Dhaka Medical College” Lower vitamin D levels are linked to more severe alopecia areata.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
July 2024 in “Journal of Investigative Dermatology” PP405 may help hair growth by activating hair follicle stem cells.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
40 citations
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October 2002 in “Endocrinology” Vitamin D3 analogs can promote hair growth in mice genetically prone to hair loss.
22 citations
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January 2017 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” A new method accurately measures nine specific hormones in human blood.
4 citations
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January 2011 in “Journal of Cosmetics, Dermatological Sciences and Applications” Vitamin B12 may promote hair growth by affecting certain cell processes.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
June 2026 in “World Journal of Clinical Pediatrics” Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
1 citations
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September 1993 in “Archives of Disease in Childhood” Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.