218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
125 citations
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September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
57 citations
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November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
47 citations
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December 2000 in “Archives of Dermatological Research” Androgens significantly affect female hair loss, and hormonal treatments may help.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
35 citations
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November 1931 in “Journal of Genetics” Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
25 citations
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August 2010 in “Journal of Biological Chemistry” Nuclear Factor I-C is important for controlling hair growth by affecting the TGF-β1 pathway.
25 citations
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August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
21 citations
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April 1982 in “Genetics Research” Mice with the naked gene have missing or abnormal hair cells.
20 citations
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May 1985 in “British journal of nutrition” Dietary essential fatty acids improved skin and hair conditions and partially corrected fat composition in diabetic mice.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
18 citations
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June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
17 citations
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September 2022 in “Genes & Genomics” Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
15 citations
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June 1995 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride doesn't affect erections much, but may decrease libido in men.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
12 citations
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August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
11 citations
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March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
9 citations
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May 2016 in “Veterinary dermatology” Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.