May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
January 2014 in “Revista Brasileira de Cirurgia Plástica” A new method using gentian violet and a protective spray can improve symmetry and reduce surgery time in hair restoration, but it's only effective for total hair loss, not diffuse hair loss or follow-up treatments.
3 citations
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March 2024 in “Viruses” γδ T cells are essential for wound healing after poxvirus infection.
December 2024 in “PubMed” A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
1 citations
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March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
December 2020 in “American Journal of Transplantation” Early recognition and treatment of VATS in transplant patients improve outcomes.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
May 2024 in “Clinical and experimental optometry” 23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
2 citations
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August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests a link between varicella-zoster virus and segmental vitiligo, with evidence of the virus disrupting skin pigment cells.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
February 2023 in “Journal of Plant Physiology” 67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
July 2024 in “The Egyptian Journal of Hospital Medicine” 34% of patients on hepatitis C treatment had reversible skin issues.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
GPC1 is important for hair growth by helping blood vessels form around hair follicles.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
3 citations
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April 2021 in “Oncology Times” Trodelvy™ helped some patients with advanced breast cancer, but had side effects.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
1 citations
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April 1998 in “PubMed” 34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.