21 citations
,
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.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
19 citations
,
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.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
31 citations
,
February 2007 in “Molecular Carcinogenesis” This study found that transgenic mice overexpressing human ATF3 showed hyperplastic and dysplastic changes in epithelial tissues, with a high incidence of oral cancer, suggesting potential oncogenic properties of ATF3.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.
324 citations
,
May 2002 in “Oncogene” July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers investigated the role of the ATX-LPA axis in asthma pathogenesis using human and mouse models and highlighted the potential for developing new ATX inhibitors as effective asthma treatments.
245 citations
,
January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
2 citations
,
March 2019 in “Journal of Histochemistry and Cytochemistry” This study found that NNAT is localized in both undifferentiated and differentiated cells across various rat tissues and has cell-specific intracellular localization, suggesting distinct functional roles.
May 2022 in “The journal of immunology/The Journal of immunology” This study developed a foxn1-deficient Xenopus laevis model using CRISPR/Cas9, observing reduced T-cell markers and altered immune responses in tadpoles, providing a nonmammalian model for immunological research.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
45 citations
,
August 2018 in “Journal of Lipid Research” This study observed that partial autotaxin deficiency in mice protects against diet-induced obesity and systemic insulin resistance, suggesting the ATX-LPA pathway negatively affects skeletal muscle insulin signaling and mitochondrial function during obesity.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
132 citations
,
February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.