15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
5 citations
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June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
1 citations
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
November 2025 in “Journal of Investigative Dermatology” Dark skin has stronger barriers and structure due to specific gene activity.
May 2025 in “Pediatric Dermatology” Topical and oral minoxidil are the best treatments for monilethrix.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Cell detachment, not autoantibody binding, causes major changes in pemphigus.
April 2023 in “Journal of Investigative Dermatology” Booster shots of mRNA vaccines for COVID-19 increased protective antibodies without worsening autoimmune skin conditions in patients.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
205 citations
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March 2012 in “Science Translational Medicine” PGD2 stops hair growth and is higher in bald men with AGA.
26 citations
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December 2012 in “Bioanalysis” Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
November 2024 in “International Journal of Scientific Reports” Dienogest is safer and has fewer side effects than GnRH analogues for treating endometriosis.
November 2024 in “Nanomaterials” The nanocrystalline suspension effectively delivers dutasteride over time with minimal inflammation.
2 citations
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April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
April 2017 in “Journal of Investigative Dermatology” The hair follicle dermal sheath is essential for hair shedding and needs to communicate with the outer root sheath for normal hair growth cycles.
8 citations
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May 2020 in “Arthritis research & therapy” DHT inhibition may increase spinal bone growth in ankylosing spondylitis.
February 2023 in “Default Digital Object Group”
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
2 citations
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September 1971 in “Metabolism, clinical and experimental” Dihydrotestosterone has a reduced effect on muscle-building in people with testicular feminization syndrome, especially after their gonads are removed.
22 citations
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
6 citations
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January 2020 in “Open Journal of Psychiatry” The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.