8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
13 citations
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December 2021 in “Journal of Cellular and Molecular Medicine” Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
83 citations
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May 2022 in “Journal of Advanced Research” Enhancing glycolysis in mesenchymal stromal/stem cells boosts their immune functions and therapy potential.
26 citations
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September 2023 in “Journal of Allergy and Clinical Immunology” Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
4 citations
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October 2018 in “JAMA Dermatology” Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss in Discoid Lupus.
1 citations
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March 2017 in “Archives of Plastic Surgery” A new method using gentian violet dye makes it easier to see and work with white hair in hair transplant surgeries.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
1 citations
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September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” γδ T cells are crucial for early wound healing after a skin virus infection.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
April 2019 in “Journal of the Endocrine Society” Care for gender-dysphoric Veterans can be improved with a consistent, team-based approach.
11 citations
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December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
55 citations
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July 1997 in “Clinical Endocrinology” Growth hormone therapy boosts androgen effects on skin in men.
1 citations
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November 2024 in “Blood” PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
7 citations
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December 1987 in “Fertility and sterility” The vellus index is a simple, quick, and reliable method to assess and monitor hair growth, especially in hirsutism.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.