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.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
1 citations
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
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.
1 citations
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October 2023 in “PROTOPLASMA” 43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
June 2020 in “Journal of Investigative Dermatology” The technique effectively shows how human skin and hair cells form into ball-like structures.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
August 2018 in “Journal of Investigative Dermatology” Centrosomes are essential for healthy skin and hair growth, and their role is different from that of cilia.
January 2011 in “Linchuang pifuke zazhi” April 2024 in “Molecules/Molecules online/Molecules annual” The composite sponge helps heal diabetic wounds by reducing inflammation and promoting new blood vessel growth.
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
July 2024 in “Journal of Investigative Dermatology” INTASYL is a promising, adaptable RNAi technology for treating skin cancers.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
April 2016 in “Journal of Investigative Dermatology” CD73 may regulate hair growth and could be targeted for hair growth treatments.
26 citations
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June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
77 citations
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February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
5 citations
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January 2024 in “Crystals” The salts have diverse molecular packing with significant hydrogen interactions.
47 citations
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August 2016 in “American Journal Of Pathology” Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
August 2005 in “The Journal of Cell Biology” Sgk3 kinase is essential for normal hair growth in mice.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
34 citations
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January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
34 citations
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May 2021 in “Journal of Nanobiotechnology” The 3D electrospun fibrous sponge is promising for tissue repair and healing diabetic wounds.