January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
June 2018 in “Journal of Dermatological Science” UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
April 2017 in “Journal of Dermatological Science” Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
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.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
1540 citations
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October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
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.
688 citations
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June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
391 citations
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September 2015 in “Journal of Clinical Lipidology” The guidelines suggest lifestyle changes, diet adjustments, and personalized medication to manage dyslipidemia and reduce heart disease risk.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
278 citations
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March 2013 in “Gut” Anti-IL-12/IL-23 antibody therapy effectively treats psoriasiform skin lesions in IBD patients.
260 citations
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December 2012 in “Cold Spring Harbor Perspectives in Biology” Wnt signaling is crucial for skin development and health, and its disruption can cause skin diseases.
245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
216 citations
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November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
186 citations
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July 1998 in “Journal of Cutaneous Medicine and Surgery” Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
175 citations
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December 2014 in “PLoS Biology” Macrophages help activate hair follicle stem cells, affecting hair growth and skin repair.
163 citations
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November 2003 in “Journal of Investigative Dermatology” Low iron levels may be linked to some types of hair loss in women.
161 citations
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August 2013 in “Journal of experimental botany” Certain inhibitors slow down plant growth by causing early cell specialization without changing the cell development pattern.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
127 citations
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July 2002 in “EMBO journal” Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
126 citations
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January 1987 in “Journal of The American Academy of Dermatology” The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.