4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
2 citations
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January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
43 citations
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December 2006 in “The American journal of pathology” Edar signaling is crucial for controlling hair growth and regression.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
22 citations
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July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
9 citations
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March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
January 2008 in “American journal of clinical dermatology” May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
132 citations
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August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
53 citations
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January 2013 in “Journal of toxicologic pathology” The project created a standardized system for classifying skin lesions in lab rats and mice.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
17 citations
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February 2015 in “Experimental Dermatology” Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
5 citations
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November 2013 in “Journal of Investigative Dermatology” The glucocorticoid receptor helps protect skin from tumors and other issues.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.