35 citations
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April 2009 in “Journal of Neuroscience Research” In this study, HDAC inhibitors promoted the differentiation of rat C6 glioma cells through the production of 5α‐reduced neurosteroids, enhancing serotonin-stimulated BDNF gene expression.
April 2026 in “Research Square”
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
2 citations
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February 2024 in “Medicine” In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.
1 citations
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August 2016 in “Dermatology - Open Journal” In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.
49 citations
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September 2004 in “Journal of the European Academy of Dermatology and Venereology” This study found that careful light microscopy using fluid-mounted hair improves detection of the pili annulati phenotype, which varies widely in expression and affects hair fragility.
October 2019 in “Asian College of Neuropsychopharmacology” 8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
March 2017 in “Zenodo (CERN European Organization for Nuclear Research)” This study found that probiotics, specifically the L. plantarum MTCC 1325 strain, may have protective effects against Alzheimer's-like symptoms induced by D-Galactose in animal models, suggesting potential therapeutic use for neurodegenerative disorders.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
11 citations
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July 2015 in “Journal of Anatomy” This review summarizes a 15-year collaboration on the role of synaptic-like vesicles in mechanosensory nerve terminals and suggests potential therapeutic implications for conditions like hypertension and muscle spasticity.
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.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
5 citations
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January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
7 citations
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August 2019 in “JAAD Case Reports” This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
1 citations
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January 2016 in “Australasian Journal of Dermatology” This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.
20 citations
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January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
December 2020 in “Innovation in aging” This study suggests that inhibiting PKC, similar to rapamycin treatment, can extend lifespan and reduce neurological symptoms and inflammation in mice with mitochondrial dysfunction, potentially involving the mTORC2 pathway.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments; linear filaments stabilize fused membranes, while branched filaments, connected by the protein Ezrin, drive integration, demonstrating actin's role in adapting to membrane biophysical changes.
82 citations
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July 2012 in “Brain pathology” This study found that LGR5 may play a significant role in maintaining brain cancer stem-like cells and is associated with glioma progression and poor outcomes.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
35 citations
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July 1977 in “PubMed” This case report describes a woman with systemic lupus erythematosus who developed both pneumonitis and nephritis, with identical immune complexes found in her lungs and kidneys, suggesting a common pathogenetic mechanism.
24 citations
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October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
November 2024 in “Human Cell” This study found that treating rat whisker follicle stem cells with retinoic acid and epidermal growth factor induced them to express synaptophysin, a marker of mature neurons, although there was a reduction in other neural markers, suggesting potential for neuro-regeneration applications.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.