28 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.
1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
79 citations
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
20 citations
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October 2005 in “Archives of Dermatological Research” 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.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
11 citations
,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
57 citations
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July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.