December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” EGM2 and SOX2 help form beige adipocytes by maintaining ASC immaturity and activating brown adipocytes.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
October 2004 in “Australian Prescriber” Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
75 citations
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September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
8 citations
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June 1981 in “Clinica Chimica Acta” 89 citations
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October 2003 in “Biology of the Cell” Galectin-1 helps in RNA processing in cell nuclei.
3 citations
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September 2008 in “Current signal transduction therapy” Drugs that block GSK-3 show promise for treating various diseases.
1 citations
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June 2015 in “Journal of anatomy” A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
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.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
3 citations
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April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
54 citations
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May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
17 citations
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October 2005 in “Journal of Biological Chemistry” Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
24 citations
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July 2016 in “Revue Neurologique” Gilles de la Tourette syndrome is treatable, with behavioral therapy as a recommended first option and other treatments available for more severe cases.
25 citations
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May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
40 citations
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December 2012 in “Epilepsia” Neurosteroids change how GABA_A receptors work in the brain, which could be important for treating temporal lobe epilepsy.
1 citations
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April 2022 in “Regenerative Therapy” Activating the GDNF-GFRα1-RET signaling pathway could potentially promote skin and limb regeneration in humans and could be used to treat hair loss and promote wound healing.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
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.