28 citations
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July 2008 in “Developmental Biology” This study found that the loss of Smad4 in keratinocytes reduces Dsg4 expression via disrupted BMP signaling, contributing to hair follicle degeneration and alopecia.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” This study found that brothers of women with PCOS exhibit elevated DHEAS levels, indicating a potential familial genetic trait, but did not show increased rates of premature balding.
17 citations
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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.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
47 citations
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August 2016 in “American Journal Of Pathology” This study reports that in systemic sclerosis, CD34+ dermal fibroblasts transition to CD34−, podoplanin+, and CD90+ fibroblasts across the dermis, suggesting a role in unchecked fibrosis.
May 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, it was observed that topical application of N,N-Dimethylglycine Sodium Salt significantly increased skin microcirculation and blood flow in human subjects, suggesting potential benefits for skin health and conditions like dermatitis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.
September 2008 in “Fertility and Sterility” This study found that both men and women in infertile couples perceive using donor sperm as more likely to cause stress, marital problems, and a diminished sense of joint parenthood compared to donor eggs.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
28 citations
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November 2004 in “Endocrinology” This study by Gao et al. reports that two nonsteroidal selective androgen receptor modulators, S1 and S4, demonstrated tissue-selective actions in rats, suppressing prostate growth while maintaining muscle growth without altering hormone levels.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
May 2025 in “The Journal of Rheumatology” This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.
20 citations
,
March 2013 in “Journal of Lipid Research” This study examined the structural and biochemical mechanisms of human lipocalin prostaglandin D synthase, detailing substrate and product binding processes at the catalytic site and suggesting potential for drug delivery targeting hydrophobic molecules.
April 2026 in “Research Square” This study found that dapagliflozin enhanced mitochondrial quality control and adaptive autophagy in human cardiomyocytes under hypoxic stress, suggesting that these mechanisms may contribute to the cardioprotective effects of sodium-glucose cotransporter 2 inhibitors in ischemic injury.
February 2024 in “Research Square (Research Square)” This study identified SFRP2 and PTGDS as potential biomarkers for female pattern hair loss, finding these genes consistently upregulated in bald hair follicles from all 18 patients, which may contribute to understanding the condition's pathogenesis and developing targeted treatments.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
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.
November 2024 in “Stem Cell Research & Therapy” A new method improves the isolation of hair follicle cells for better hair growth research.
8 citations
,
January 2021 in “Pharmaceutics” This study found that using nanoporous silica entrapped lipid-drug complexes enhanced the solubility and bioavailability of dutasteride in beagle dogs.
1 citations
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September 2019 in “Journal of Investigative Dermatology” This study developed a pemphigus model in mice showing that anti-Desmocollin 3 and anti-Desmoglein 3 antibodies lead to more severe disease, suggesting diverse antigens contribute to varying human pemphigus phenotypes.
This study found that while 3D spheroid culture preserved sweat gland cell-specific markers better than 2D culture, their growth and structural organization were suboptimal, highlighting the need for improved culture systems.
6 citations
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August 2014 in “Toxicologic pathology” This study found that prolonged inhibition of DGAT1 in mice and dogs led to atrophy of sebaceous glands, with mice also experiencing alopecia, suggesting potential skin-related risks for humans using DGAT1 inhibitors.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
44 citations
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October 2016 in “Epilepsia” This study demonstrated that the glycolytic inhibitor 2-deoxy-D-glucose enhances antiseizure effects by potentiating extrasynaptic tonic GABAergic inhibition through neurosteroidogenesis in hippocampal slices.
March 2024 in “Cell communication and signaling” This study found that sleep deprivation in mice can trigger prostatitis by activating the cGAS-STING pathway due to reduced levels of dihydrotestosterone and melatonin, resulting in a pro-inflammatory environment, while recovery sleep can mitigate these effects.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
39 citations
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November 2015 in “Nanomedicine” This study found that the developed Finasteride-loaded SMEDDS improved the relative bioavailability of the drug compared to a commercial tablet, offering a promising oral delivery system for glucosteroid analogs.
25 citations
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June 2017 in “Neuropharmacology” This study observed that overexpressing TSPO in the hippocampal dentate gyrus of mice led to significant anxiolytic and antidepressant-like effects, potentially mediated by increased allopregnanolone synthesis.