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April 2020 in “Asian Journal of Medicine and Biomedicine” A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
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September 1999 in “Journal of the European Academy of Dermatology and Venereology” People with Behçet's disease can develop life-threatening lung artery aneurysms that may require surgery.
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
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August 2021 A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
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May 2019 in “Stem cell research & therapy” iPSC-derived stem cells on a special membrane can help repair full-thickness skin defects.
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
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January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
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September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
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April 2020 in “Journal of Mind and Medical Sciences” Amyand's hernia treatment is complex and depends on literature and surgeon's experience.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
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July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
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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.
Meis2 is essential for whisker development, independent of nerve involvement.
April 2022 in “The Journal of Sexual Medicine” Treating hematospermia can improve sexual function and reduce anxiety.
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April 2014 in “PloS one” Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
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January 2022 in “Journal of Clinical Medicine” Dermoscopy and trichoscopy are useful for diagnosing skin signs in Dermatomyositis.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
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January 2010 in “Journal of oral and maxillofacial surgery” 1 citations
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May 2024 in “Journal of Dermatological Science” Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
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February 2022 in “Cell Death Discovery” ECM1-modified stem cells can effectively treat liver cirrhosis.
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February 2025 in “Frontiers in Cell and Developmental Biology” Wharton's Jelly stem cell medium may help treat skin issues in Systemic Sclerosis.