1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
1 citations
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February 2023 in “Pediatrician (St Petersburg)” Early iron deficiency can lead to anemia during puberty, so it's important to address it early.
104 citations
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June 2020 in “Journal of Endocrinology” Hyperandrogenism and insulin resistance in PCOS-like rats can lead to pregnancy complications due to increased cell death in the uterus and placenta.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
Erythropoietin overexpression disrupts hair growth and fat formation in mice.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
12 citations
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June 2010 in “Journal of dermatology” Some patients with severe alopecia areata developed skin darkening from their treatment, which may indicate a less effective response to the therapy.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
2 citations
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June 1985 in “PubMed” Ethylenthiourea is toxic to the liver and nervous system, especially with alcohol.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
January 2025 in “Indian Journal of Biochemistry and Biophysics” The uric acid to creatinine ratio is a strong indicator for diagnosing PCOS.
9 citations
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July 2016 in “The Journal of Dermatology” An 82-year-old man's white hair regained color after taking etretinate for psoriasis.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
Defective nuclear transport may cause gene expression changes in Progeria.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
6 citations
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December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
55 citations
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March 1990 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride may treat baldness but less effective for those with 5α-reductase deficiency.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.