This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
40 citations
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December 2010 in “Human Genetics” 21 citations
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June 2009 in “Mammalian genome” This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.
53 citations
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October 2014 in “Free radical biology & medicine” This study found that oxidative damage is present in the mitochondria of PolG mice, which exhibit premature aging-like phenotypes due to mitochondrial dysfunction.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
46 citations
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September 2007 in “Journal of Investigative Dermatology”
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
7 citations
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September 2006 in “Molecular Carcinogenesis” This study observed that K5Cre +/+ transgenic mice develop a distinct phenotype characterized by wavy hair, curly whiskers, and an increased rate of papilloma malignant transformation.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
1 citations
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August 2020 This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
130 citations
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January 2000 in “Nature biotechnology” 20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
8 citations
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January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.