17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
182 citations
,
August 2016 in “Development” This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.
22 citations
,
June 2017 in “Stem cell reports” This study found that PTEN regulates the number and genomic stability of hair follicle stem cells in the skin, with its deficiency leading to increased stem cell accumulation and senescence through interactions with BMAL1 and BMI-1.
15 citations
,
September 2009 in “European Journal of Histochemistry” This study found that CD90+ cells, resembling mesenchymal stem cells, are abundantly present in the lower part of anagen hair follicles in dogs.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
89 citations
,
May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
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.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
44 citations
,
March 2015 in “PLOS ONE” This study found that FGF-9 treatment in diabetic mice improved heart function after myocardial infarction by decreasing monocyte infiltration and promoting anti-inflammatory macrophage differentiation.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that tissue damage in adult mice triggers the release of mitochondrial DNA, which activates the TLR9 pathway and influences hair regeneration by recruiting gamma delta T cells, ultimately affecting healing outcomes such as fibrosis.
January 2009 in “Xumu shouyi xuebao” In this study, researchers successfully established a stable transgenic sheep fibroblast cell line containing an artificially synthesized spider dragline silk protein gene.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
76 citations
,
June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
33 citations
,
November 1994 in “Archives of Biochemistry and Biophysics” 71 citations
,
May 2024 in “New England Journal of Medicine” This study investigated the impact of the JAK inhibitor ruxolitinib on APS-1 patients, reporting that treatment decreased excessive T-cell-derived interferon-γ, normalized inflammatory markers, and led to remission of several autoimmune symptoms without serious adverse effects.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study found that certain Y-chromosome alleles may influence susceptibility to prostate cancer among Iraqi males, suggesting potential genetic screening markers for the disease.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study indicates that MPZL3 negatively regulates sebaceous gland size in mice by controlling sebocyte proliferation, with implications for disorders like acne and psoriasis.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.