November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
July 2022 in “British Journal of Dermatology” July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
September 2024 in “Journal of the American Academy of Dermatology”
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
4 citations
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January 2019 in “Journal of cutaneous pathology” The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
January 2007 in “대한피부과학회지” The document's conclusion can't be summarized because the text is not in English and the document content is not provided.
7 citations
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May 2025 in “Journal of Biomedical Science” Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
2 citations
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September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
2 citations
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January 2020 in “Skin Appendage Disorders” Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
13 citations
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January 1985 in “International Journal of Dermatology” The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
12 citations
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December 2009 in “Amino Acids” Putting α-methylspermidine on mouse skin can start hair growth.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
July 2008 in “Journal of Intellectual Property Law & Practice” The UK Intellectual Property Office allows granting of supplementary protection certificates with negative terms.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
13 citations
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July 2015 in “Archives of dermatological research” N1-methylspermidine helps hair growth and reduces inflammation in hair follicles.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
2 citations
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November 1973 in “PubMed” Sulfur-35 can be used to track hair growth and past exposure.
August 2020 in “OPAL (Open@LaTrobe) (La Trobe University)”
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
19 citations
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September 2019 in “EMBO molecular medicine” Blocking TSLP reduces skin inflammation and cell overgrowth in psoriasis.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.