56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
6 citations
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December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
March 2013 in “Pigment Cell & Melanoma Research” A gene called Taqpep affects cat coat patterns like stripes and blotches.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
September 2025 in “Jurnal Penelitian Pendidikan IPA” Two genetic variations in Moa buffalo help them adapt to heat.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
September 1973 in “Primates” 28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
1 citations
,
August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
7 citations
,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.