65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
11 citations
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December 2013 in “International Journal of Dermatology” IL16 gene variations may affect the risk of alopecia areata in Koreans.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
December 2025 in “ILDS-DEV” 148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
25 citations
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August 2020 in “Experimental eye research/Experimental Eye Research” Different types of cells in the eye express specific keratins at various stages of development.
66 citations
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April 1995 in “The journal of cell biology/The Journal of cell biology” A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
1 citations
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May 1967 in “Pediatric Research” January 2005 in “JAPANESE JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS”
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
16 citations
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July 1996 in “Journal of Investigative Dermatology” 1 citations
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July 2020 in “Reviews in separation sciences”
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
July 1994 in “Hair transplant forum international” I cannot provide a summary without content from the document.
February 2005 in “Journal of the American Academy of Dermatology” 2 citations
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March 1986 in “BMJ” July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
December 2023 in “International Journal of Dermatology”
November 2005 in “Hair transplant forum international” It's not possible to get unlimited hair for transplants from the same donor area.
1 citations
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October 2018 in “The American journal of gastroenterology” Relapsing hepatitis A can cause prolonged abnormal liver tests even without symptoms.
November 2000 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not accessible.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
July 2024 in “Journal of Investigative Dermatology” December 2012 in “http://isrctn.org/>”
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.