25 citations
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
16 citations
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October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
7 citations
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May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
5 citations
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May 2018 in “PloS one” Both classical and L-type atypical BSE from cattle can infect goats with different incubation times, and tests can distinguish between the two strains.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
11 citations
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September 2011 in “Biochemical journal” Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
4 citations
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May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
1 citations
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April 2023 in “African Scientific Reports” Natural compounds can lighten skin by reducing melanin.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
1 citations
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January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
54 citations
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December 2007 in “Best Practice & Research Clinical Endocrinology & Metabolism” Targeting glucocorticoid action might help treat type-2 diabetes, but human trials are needed.
10 citations
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January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
2 citations
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May 2021 in “Case reports in dermatological medicine” A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.