3 citations
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February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
3 citations
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March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
1 citations
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January 2024 in “Clinical Cosmetic and Investigational Dermatology” Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Lef1 helps adult skin cells maintain their ability to heal wounds and regenerate hair, but the study's methods and conclusions have been questioned.
May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
5 citations
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January 2018 in “Indian Dermatology Online Journal” A brown shadow seen in dermoscopy is a marker for lichen nitidus.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
1 citations
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October 2023 in “Skin research and technology” LC-OCT is an effective new method for diagnosing classic lichen planopilaris.
2 citations
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April 2012 in “American Journal of Dermatopathology” Accurate diagnosis of NLS with dilated hair follicles is crucial to distinguish it from other conditions.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
421 citations
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September 2003 in “Development” Stem cell behavior varies with stimuli, and lineage changes can happen without affecting stem cell division.
2 citations
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March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
90 citations
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July 2008 in “Dermatologic therapy” Lichen planopilaris is a chronic, scarring hair loss condition with no definitive cure, requiring accurate diagnosis and treatment to manage symptoms.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
4 citations
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January 2017 in “PubMed” A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” QLT0267 stops hair follicle cell growth and movement.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
February 2026 in “JEADV Clinical Practice” Lichen planopilaris can cause hair loss on limbs, not just the scalp.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
1 citations
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
12 citations
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August 2007 in “Human Molecular Genetics” Lymphotoxin-β is crucial for proper skin development in embryos.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.