January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
9 citations
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January 2023 in “Journal of Clinical Medicine” The FFA-QLI is a reliable tool for assessing quality of life in women with severe Frontal Fibrosing Alopecia.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
January 2015 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
May 2024 in “Reactions weekly”
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
2 citations
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July 2012 in “BMJ” FFA can be mistaken for rosacea, requiring specific treatment for accurate diagnosis and management.
Nod factor can trigger changes in legume root hairs with just one molecule.
55 citations
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June 2007 in “Journal of Statistical Planning and Inference” The flexible fixed-sequence testing method allows for more effective evaluation of multiple goals in a clinical trial while controlling the risk of false positives.
August 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration and may help rejuvenate aged skin.
6 citations
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June 2016 in “Experimental Dermatology” Frontal Fibrosing Alopecia is a poorly understood condition that is hard to treat and causes distressing hair loss.
18 citations
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August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
1 citations
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April 2013 in “Journal of Investigative Dermatology”
September 2025 in “Digital Commons - RU (Rockefeller University)” Nfib in hair follicle stem cells boosts melanocyte stem cell growth and differentiation.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
October 2025 in “JEADV Clinical Practice” The name Janus is fitting for JAK inhibitors as they revolutionize dermatology treatments.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
June 2026 in “Scientific Reports” Nestin-expressing hair follicle cells may be useful for nerve repair and regeneration.
1 citations
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May 2021 in “Annals of the rheumatic diseases” Tofacitinib is a promising treatment for children with rheumatic diseases.
33 citations
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
April 2026 in “Case Reports in Dermatology” Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
April 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration by supporting stem cells.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.