5 citations
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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.
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.
December 2011 in “University of Southern California Digital Library” High BMP signaling disrupts hair growth and balance in skin cells.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
28 citations
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November 2013 in “Cell and Tissue Research” 55 citations
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December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
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.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
34 citations
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May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
65 citations
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June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
21 citations
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December 1994 in “Journal of Investigative Dermatology”
1 citations
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January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
305 citations
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December 2000 in “The EMBO Journal” Inhibiting Bmp signaling disrupts hair growth and differentiation.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
136 citations
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.