11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
July 1991 in “Endocrinology” The document contains an error.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
51 citations
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September 2012 in “Gene” The research identified a gene in sheep important for wool quality, which could help improve wool traits.
1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
Maternal and extranuclear factors affect fruit traits in winter squash.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
13 citations
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June 2024 in “Asian Pacific Journal of Cancer Prevention” The (+) enantiomer of YH239-EE effectively kills breast cancer cells.
15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
60 citations
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December 2013 in “PLoS ONE” EETs can delay seizures by affecting GABA activity, offering potential new treatments for seizures.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
September 2023 in “Zenodo (CERN European Organization for Nuclear Research)” The document's conclusion cannot be determined because the content is not available.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
18 citations
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”