50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
1 citations
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November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
1 citations
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May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
5 citations
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June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
5 citations
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August 2005 in “Archives of Dermatological Research” HSPC016 gene is important for hair growth.
6 citations
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
7 citations
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May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
3 citations
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January 2021 in “Hair transplant forum international” The Hair Diameter Index (HDI) was created to help plan hair restoration surgery after finding that visual hair density is linked to hair count and thickness, not volume.
January 2026 in “Biomaterials”
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
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.
41 citations
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June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
September 2023 in “Journal of the American Academy of Dermatology” Having PCOS does not make hidradenitis suppurativa worse.
37 citations
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September 2009 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Diphencyprone (DPC) is an effective and safe long-term treatment for alopecia areata, especially with maintenance therapy.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
26 citations
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September 1999 in “Canadian Journal of Botany” The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
October 2023 in “Research Square (Research Square)” The new composite scaffold may effectively treat chronic and deep wounds.
1 citations
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August 2024 in “Journal of Pharmacy & Pharmaceutical Sciences” The DPCP/HPβCD complex improves solubility and anti-inflammatory effects for alopecia areata treatment.