1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
50 citations
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September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
73 citations
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December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
93 citations
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May 2010 in “European Journal of Cancer” BI 2536 had limited effectiveness against several advanced cancers and caused significant side effects.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
6 citations
,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
1 citations
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April 2007 in “The FASEB Journal” Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
8 citations
,
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.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.