Knocking out the FGF5 gene in sheep increased wool production and hair-follicle density.
24 citations
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October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
1 citations
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September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
December 2020 in “Research Square (Research Square)” A genetic change in the FGF5 gene affects hair growth in cashmere goats.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
1 citations
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October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
73 citations
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June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
14 citations
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December 2016 in “Sexual Medicine” Finasteride side effects in young men may be linked to specific gene variations.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.