28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
16 citations
,
November 2022 in “eLife” This study found that specific genetic changes in both coding and noncoding regions may have independently driven the evolution of hairlessness in various mammalian species through accelerated evolution.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
2 citations
,
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.
1 citations
,
September 2022 in “Canadian Journal of Ophthalmology” This study presents cases of paraproteinemic keratopathy associated with multiple myeloma and MGUS, highlighting varied treatment responses and the need for long-term follow-up to better understand disease progression and management.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.
1 citations
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October 2023 in “Biology” In this study, researchers observed that fasting-induced molting in laying hens led to increased thyroid hormones, which may regulate feather molting by affecting hair follicle growth through specific signaling pathways, highlighting molecular changes during induced molting.
This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
January 2026 in “Journal of Comprehensive Science (JCS)” This case report highlights the severe manifestations of early congenital syphilis and underscores the crucial need for early diagnosis and treatment to improve outcomes in affected infants.
April 2022 in “Journal of applied science and environmental management” This study found that Aframomum melegueta seed extract improved wound healing in albino rats, with treated groups showing smaller wound sizes and formation of new tissues compared to controls.
321 citations
,
March 2015 in “Nature” This study found that super-enhancers are essential for hair follicle stem cell identity, lineage commitment, and plasticity in mice, with SOX9 being a key regulator of these chromatin dynamics.
222 citations
,
September 2016 in “JCI insight” This research overview highlights that although JAK inhibitors show promise as potential treatments for alopecia areata based on recent insights into the disease mechanism, their efficacy has not yet been thoroughly evaluated in a systematic manner.
196 citations
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September 2016 in “JCI insight” This study explored the effectiveness of the oral JAK1/2 inhibitor ruxolitinib in treating patients with moderate-to-severe alopecia areata, building on prior success with JAK inhibitors in mice, but results are not reported in this abstract.
184 citations
,
February 2015 in “EBioMedicine” This study observed that baricitinib treatment led to significant improvement in a patient's alopecia areata symptoms and suggests further clinical trials to explore its potential as a treatment.
100 citations
,
November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
80 citations
,
April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
70 citations
,
April 2016 in “Experimental Dermatology” In this study, oral tofacitinib treatment led to significant hair regrowth and changes in skin and blood biomarkers in a patient with alopecia areata.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
40 citations
,
January 2016 in “Elsevier eBooks” This article explains the structure and multifunctional roles of the human skin, including its protective, regulatory, and sensory functions, but does not report new research findings.
32 citations
,
April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.
29 citations
,
January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.