24 citations
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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
1 citations
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November 2017 The document concludes that while some organisms can regenerate body parts, mammals generally cannot, and cancer progression is complex, involving mutations rather than a strict stem cell hierarchy.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
402 citations
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August 2011 in “Cancer research” Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.
64 citations
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September 2006 in “International journal of epidemiology” Cancer development is like natural selection, involving mutated cells and environmental factors.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
19 citations
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May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
2 citations
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May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
44 citations
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February 2021 in “Scientific Reports” Mutations in the spike protein affect drug binding and effectiveness.
31 citations
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July 2012 in “Journal of Lipid Research” ACBP is crucial for healthy skin in mice.
1 citations
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January 2024 in “International journal of molecular sciences” TRPV4 helps cells repair tissue and reduce scarring by controlling calcium levels.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
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.
56 citations
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March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.