2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
April 2019 in “Lincoln (University of Nebraska)” The smart bandage improved healing in diabetic wounds better than standard treatments.
A spayed dog with vaginal bone structures causing infection was successfully treated by removing the bones and administering medication.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
26 citations
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October 2020 in “Biomedicines” Bioengineered skin models help reduce animal testing and advance research in cosmetics and skin disease.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
82 citations
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January 2011 in “New Phytologist” VILLIN4 helps root hair growth by organizing actin with calcium.
28 citations
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January 2011 in “Hearing Research” Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
April 2017 in “Journal of Investigative Dermatology” Dermal lymphatic vessels help hair growth by affecting hair cycle phases.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
January 2025 in “Ginekologia Polska” VDR gene variations may affect carbohydrate metabolism in young women with hyperandrogenism.
3 citations
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April 2021 in “Oncology Times” Trodelvy™ helped some patients with advanced breast cancer, but had side effects.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
3 citations
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September 2020 in “Molecular Brain” The anti-viral drug Elvitegravir may protect brain cells from damage related to neurodegenerative diseases.
61 citations
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April 2023 in “Advanced Materials” The new electrode improves long-term monitoring on hairy skin by reducing motion issues and is easy to use.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
September 2024 in “Current Drug Delivery” Ginger extracts may help treat hair loss by reducing inflammation and promoting hair growth.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
45 citations
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September 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D3 and its receptor help protect skin from UVB-related cancer.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
17 citations
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April 2011 in “Journal of Dermatological Science” The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.
8 citations
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January 2007 in “Hair transplant forum international” Vitamin B12 improves the health and growth of hair micrografts.