91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
47 citations
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April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
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.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
10 citations
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December 2023 in “International Journal of Nanomedicine” Cell membrane-coated nanoparticles could improve gene therapy by enhancing delivery and targeting of nucleic acids.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
January 2011 in “Zhongguo nongye Kexue” Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
2 citations
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September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
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.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
28 citations
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June 2003 in “Applied immunohistochemistry & molecular morphology” Combining cell conditioning with mild protease digestion effectively shows versican mRNA in mouse skin sections.