136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
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.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
5 citations
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January 2020 2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
October 2025 in “Science Advances” IFN-γ production by CD4 T cells is crucial for causing alopecia areata.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
41 citations
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October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.
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.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
29 citations
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February 2022 in “Frontiers in Cell and Developmental Biology” Improving CRISPR/Cas systems can make gene editing more efficient and precise.
9 citations
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October 2025 in “MedComm” PROTACs offer new ways to treat hard-to-target diseases, with promising drugs for cancer in advanced trials.
1 citations
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November 2011 in “British journal of pharmacology” Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
April 2024 in “International journal of molecular sciences” Combination pharmacotherapy is generally more effective for treating keloids and hypertrophic scars.
March 2024 in “International journal of molecular sciences” Meibomian glands are highly specialized and differ significantly from other sebaceous glands in structure and function.
3 citations
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October 2020 in “Journal of Investigative Dermatology” Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
29 citations
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June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
April 2026 in “Inflammation and Regeneration” AKR1C enzymes in scalp glands decrease with age, possibly affecting hair loss.
5 citations
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June 2024 in “Developmental Cell” Activating TRPV1 can boost hair growth by involving neurons, macrophages, and fibroblasts.
1 citations
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May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
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.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
19 citations
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March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
May 2025 in “Journal of Developmental Biology” Jawless vertebrates have teeth proteins similar to those in mammalian hair and nails.