33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
9 citations
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February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
24 citations
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November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
97 citations
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June 2013 in “Journal of Dermatological Science” Understanding EGFR's role in skin is crucial for better treatments and managing side effects.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
140 citations
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October 2008 in “Nature Genetics”
June 2022 in “Research Square (Research Square)” Nestin-expressing cells turn into a specific type of skin cell in hair follicles during development and in adults.
66 citations
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June 2004 in “Development” FGF signaling is crucial for starting feather development in chicken embryos.
124 citations
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December 1983 in “Developmental Biology” EGF receptors are crucial for skin cell growth and decrease with age.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
24 citations
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October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
53 citations
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May 1988 in “Journal of Molecular Evolution” 112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
190 citations
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July 2006 in “Experimental Dermatology” The hedgehog signalling pathway is key in skin development and basal cell carcinoma, offering insights for prevention and treatment.
24 citations
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November 2013 in “Molecular Medicine Reports” Human hair follicle stem cells can become endothelial cells with certain growth factors, useful for vascular treatments.