3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
4 citations
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August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
2 citations
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January 2014 in “Photochemical & photobiological sciences” Grasp protein helps maintain skin health after UVB exposure.
117 citations
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September 2003 in “Molecular & cellular proteomics” The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
April 1996 in “Journal of Dermatological Science”
7 citations
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June 1976 in “JAMA” Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
32 citations
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July 2017 in “Oncotarget” Alternating treatment with two drugs could help cells in a rapid aging disease.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
August 2013 in “Annals of Translational Medicine” HPE may help treat osteoarthritis by promoting cartilage regeneration.
4 citations
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December 1995 in “Anthropologischer Anzeiger” Family members have similar hair protein patterns, which could be useful for genetic studies.
3 citations
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May 2018 in “Experimental Dermatology” Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
April 2023 in “Journal of Investigative Dermatology” Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
5 citations
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February 2022 in “Supportive Care in Cancer” Older age is the main risk factor for hemorrhagic cystitis after stem cell transplants.
9 citations
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July 2018 in “Current Pharmaceutical Design” HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.
41 citations
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May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
1 citations
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February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
2 citations
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December 2022 in “The Journal of Dermatology” Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.