11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
March 2026 in “Journal of the American Academy of Dermatology” The treatment significantly improved lymphocytic cicatricial alopecia symptoms in most patients.
1 citations
,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
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.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
July 2025 in “Cell & Bioscience” Specific immune cells and pathways contribute to hair follicle inflammation and hair loss, suggesting potential treatments for lichen planopilaris.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
1 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Lymphatic vessels are essential for hair follicle regeneration and growth.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
May 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PPARgamma is crucial for healthy hair follicles, and its loss causes scarring alopecia.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
6 citations
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March 1996 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
3 citations
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December 2024 in “Stem Cell Reports” Low fucosylation boosts stem cell growth in the eye.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
February 2026 in “International Journal of Molecular Sciences” Removing Lrig1-positive cells in mice leads to temporary loss of sebaceous glands.
27 citations
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December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
1 citations
,
March 2025 in “Journal of Investigative Dermatology” Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.
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.
December 2024 in “Skin Appendage Disorders” Accurate diagnosis and treatment improved symptoms in a patient with alopecia linked to mycosis fungoides.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.