119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
112 citations
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September 2021 in “BMC Biology” Key genes and factors crucial for hair follicle development and wool traits in Merino sheep were identified.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
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.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
63 citations
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May 2009 in “Dermato-endocrinology” Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
57 citations
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April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
52 citations
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September 2022 in “Viruses” SARS-CoV-2 proteins help the virus avoid the immune system, delaying response and increasing inflammation.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
49 citations
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December 2022 in “Pharmacological Reviews” Targeting androgen receptors shows promise for treating triple-negative breast cancer, but more research is needed.
46 citations
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June 2015 in “American Journal Of Pathology” Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
46 citations
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August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
43 citations
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December 2006 in “The American journal of pathology” Edar signaling is crucial for controlling hair growth and regression.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
37 citations
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April 2015 in “Development Growth & Differentiation” The Hippo signaling pathway helps control organ size during regeneration by regulating gene expression.
31 citations
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September 2020 in “Stem Cell Research & Therapy” Hair follicle stem cells may help repair the brain after a stroke.
29 citations
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April 2000 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” ICAM-1 helps regulate hair growth cycles and skin remodeling.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
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.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
25 citations
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June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
25 citations
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
24 citations
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May 2022 in “BMC Veterinary Research” lncRNAs play a key role in hair follicle development, affecting cashmere quality and yield.
24 citations
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April 2013 in “PLOS ONE” TNFα, IFNγ, and Substance P significantly affect prolactin levels in human skin, suggesting new treatments for skin and hair conditions.
24 citations
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October 2012 in “The International Journal of Biochemistry & Cell Biology” Testosterone protects female heart cells from stress by activating estrogen receptors.