55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
28 citations
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September 2002 in “The Journal of Comparative Neurology” Presynaptic inhibition of certain nerve fibers in cats is mainly controlled by GABA and glycine.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
6 citations
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March 2014 in “Livestock science” Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
61 citations
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January 2008 in “Cold Spring Harbor Symposia on Quantitative Biology” Beta-catenin is crucial for skin cell growth, development, and cancer formation.
35 citations
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July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
1 citations
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October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
5 citations
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June 2008 in “British Journal of Dermatology” May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
138 citations
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December 1976 in “Journal of Biological Chemistry” The enzyme from human skin can cross-link proteins and needs calcium to work.
17 citations
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January 2019 in “International journal of biological sciences” Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
9 citations
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September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
January 2006 in “Chieh P'ou Hsueh Pao” Beta-catenin boosts hair follicle cell growth by increasing c-myc expression.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
9 citations
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April 1999 in “Mammalian Genome” Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.