5 citations
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March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
12 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
2 citations
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September 2007 in “International Journal of Impotence Research” Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
July 1999 in “Journal of the American Academy of Dermatology”
April 2023 in “Journal of Investigative Dermatology” Dkk4 protein helps control how hair grows and its arrangement.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
2 citations
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January 2025 in “Veterinary Dermatology” Male Pomeranians with woolly coats are more likely to develop alopecia X.
14 citations
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June 2024 in “Clinical Reviews in Allergy & Immunology” People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
2 citations
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August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
30 citations
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June 2013 in “Optometry and vision science” Following a specific clinical sequence can help diagnose and treat Demodex mites in the eyes.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
8 citations
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September 2004 in “Contact dermatitis” Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
April 2019 in “Journal of Investigative Dermatology” DPP4-positive fibroblasts play a major role in producing proteins that lead to skin fibrosis.
November 2023 in “Circulation” Minoxidil can cause a rare but serious condition that leads to fluid buildup around the heart and drug-induced lupus.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
39 citations
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January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
1 citations
,
April 2023 in “Heliyon” Disitamab vedotin and gemcitabine effectively treated bladder cancer without major side effects.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.