166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
28 citations
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August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
1 citations
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October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
1 citations
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July 2004 in “The Journal of Dermatology” Generalized hair follicle hamartoma can occur with systemic lupus erythematosus.
29 citations
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January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
1 citations
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July 2025 in “Scientific Reports” Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.
January 2021 in “Pediatric Oncall” Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
20 citations
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December 2019 in “International Journal of Molecular Sciences” HB-EGF boosts the hair growth ability of stem cells, making it a potential hair loss treatment.
7 citations
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March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
74 citations
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
47 citations
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August 2000 in “Endocrine Reviews” The document concludes that more research is needed to understand excessive hair growth in women with normal hormone levels and regular ovulation.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
43 citations
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April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
3 citations
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January 2016 in “Dermatology online journal” Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.