ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
92 citations
,
December 2005 in “The Journal of clinical investigation/The journal of clinical investigation” Human hair follicle stem cells can be isolated using specific markers for potential therapeutic use.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
December 2022 in “International journal of drug regulatory affairs” The US and EU lead in cell and gene therapy regulations with more approvals and clinical trials, while India is in early stages with fewer approvals and expedited processes.
6 citations
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
23 citations
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January 2022 in “Biomaterials Science” Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
1 citations
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October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
Defective nuclear transport may cause gene expression changes in Progeria.
46 citations
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August 2020 in “International Journal of Genomics” Identifying specific genes helps improve goat breeding for better traits like growth and milk production.
December 2015 in “PLOS Genetics” 53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
26 citations
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November 2009 in “Journal of Endocrinological Investigation” Certain gene variations are not a major cause of male infertility in Nigerian men.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
5 citations
,
January 1988 Only two of the four keratin genes are expressed in wool fibers.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
January 2024 in “Biochemical genetics” The research found specific genes and proteins that affect how fast chickens' feathers grow, which is not solely determined by traditional inheritance patterns.
January 2009 in “Adelaide Research & Scholarship (AR&S) (University of Adelaide)” Identifying and manipulating key genes can improve wool quality and productivity in sheep.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
75 citations
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
1 citations
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February 2016 in “Cell Transplantation” Hair follicles have a more inactive cell cycle than other skin cells, which may help develop targeted therapies for skin diseases and cancer.
10 citations
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May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
4 citations
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May 2017 in “Data in Brief” Five molecular elements identified as potential future targets for hair loss therapy.
16 citations
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April 2000 in “Journal of Investigative Dermatology” The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.