91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
17 citations
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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.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
12 citations
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January 1998 in “Clinical Infectious Diseases” A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
6 citations
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November 1996 in “Archives of Dermatology” A man's relapsed leprosy was successfully treated with the antibiotic sparfloxacin.
7 citations
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March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
2 citations
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January 1997 in “Leprosy Review” A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
8 citations
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October 2021 in “Microbiology spectrum” Researchers identified five new potential targets for leishmaniasis treatment, suggesting repurposing existing drugs could be effective.
1 citations
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February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
January 2026 in “JCEM Case Reports” A woman with hypothyroidism developed an allergy to IV levothyroxine after being resistant to oral forms.
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.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
13 citations
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November 2013 in “Seizure: European Journal of Epilepsy” Levetiracetam may cause hair loss, which can potentially reverse with lower doses or stopping the drug.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
16 citations
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June 2017 in “JAMA Dermatology” Thalidomide works best for skin lupus not helped by antimalarials, but has many side effects; other treatments are less effective, especially if patients also have systemic lupus.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
1 citations
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January 2018 in “Journal of Neurology Research” A young man had rare serious side effects from an epilepsy drug, leading to stopping the drug.
4 citations
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January 2020 in “Journal of family medicine and primary care” Increasing Teneligliptin on his own caused a man's hair loss, which stopped when he ceased the medication.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
42 citations
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September 2012 in “PLoS ONE” Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
April 2019 in “Journal of the Endocrine Society” A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
14 citations
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January 2020 in “Korean Journal of Family Medicine” Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.