June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
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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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
The naked mutation in mice causes hair loss and helps identify keratin genes.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
46 citations
,
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.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
26 citations
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August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
January 2009 in “Bradford Scholars (University of Bradford)” BMP signaling helps prevent skin tumors by blocking cancer-promoting pathways.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.