April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
January 2025 in “EXPERIMENTAL ANIMALS” Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
Controlling Tslp can improve health in AEC syndrome patients.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
April 2023 in “Journal of Investigative Dermatology” cp-asiAR may effectively treat hair loss by targeting androgen receptors.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
222 citations
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January 2014 in “International journal of reproductive medicine” Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
133 citations
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February 2017 in “PLoS Genetics” Genetic factors can help predict male pattern baldness risk.
110 citations
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February 2024 in “Journal of Chemical Information and Modeling” PandaOmics uses AI to find new disease treatment targets and biomarkers.
107 citations
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August 2012 in “Seminars in Cell & Developmental Biology” The document concludes that understanding the sebaceous gland's development and function is key to addressing related skin diseases and aging effects.
99 citations
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January 2014 in “Nature communications” Scientists created stem cells that can grow hair and skin.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
77 citations
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March 2001 in “Clinics in Dermatology” Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
65 citations
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January 2018 in “Nature Reviews Endocrinology” Skin fat has important roles in hair growth, skin repair, immune defense, and aging, and could be targeted for skin and hair treatments.
62 citations
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January 2015 in “Journal of Dermatological Science” New genetic discoveries may lead to better treatments for alopecia areata.
62 citations
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April 2009 in “British Journal of Dermatology” Epidermal stem cells could lead to new treatments for skin and hair disorders.