1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
79 citations
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February 2009 in “Human Genetics”
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
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.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
93 citations
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January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
51 citations
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January 2004 in “European Journal of Cell Biology” Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
2 citations
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October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
1 citations
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September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
6 citations
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February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
Understanding genetics is crucial for treating heart and skin diseases.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
25 citations
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
141 citations
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August 2018 in “Nature Reviews Microbiology” Some viruses can cause cancer by changing cell processes and avoiding the immune system; vaccines and targeted treatments help reduce these cancers.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.