1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that anagen stage protein homogenates and specific epitopes from melanogenesis proteins activated CD8 T cells, suggesting alopecia areata is an anagen-specific disease.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
October 2024 in “Developmental Dynamics” This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
33 citations
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December 2005 in “Archives of dermatology” This study presents case reports of four patients with alopecia areata or alopecia universalis, highlighting varied responses to treatments like prednisone, intralesional triamcinolone, and squaric acid dibutyl ester.
In this study, thalamic GABAA receptor α4 subunit levels were regulated after acute and chronic ethanol exposure, with temporal expression changes affected by phosphorylation state and neuroactive steroids.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
6 citations
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February 2024 in “Pharmaceutics” This study found that echogenic liposomes improved the delivery and penetration of CRISPR/Cas9 genetic materials into cardiomyocytes, both in vitro and in vivo, especially when combined with ultrasound, highlighting a promising strategy for cardiovascular gene therapy.
3 citations
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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.
October 2002 in “Atherosclerosis Supplements” LDL apheresis lowers inflammation and cardiovascular risk by reducing CRP levels long-term.
3 citations
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October 2022 in “Journal of Cosmetic Dermatology” This study found that alopecia areata patients had a higher serum CRP/albumin ratio compared to healthy controls, and this elevation was linked to disease severity, indicating its potential as an inflammatory marker.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
47 citations
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July 2004 in “Journal of Dermatological Science” In this study, decreased expression of BMP2 and ephrin A3 and increased NT-4 gene expression were observed in dermal papilla cells from androgenic alopecia-affected skin, suggesting potential roles in hair growth regulation.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
6 citations
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March 2020 in “Anais Brasileiros de Dermatologia” This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
11 citations
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January 2016 in “Molecular and Cellular Neuroscience” This study found that thalamic GABAA receptor α4 subunit levels increased after prolonged ethanol exposure and were regulated by phosphorylation and neuroactive steroids following acute high-dose ethanol administration.
April 2020 in “The FASEB Journal” This study found that Rap1 deficiency in mice may lead to telomere shortening, DNA damage, and impaired mitochondrial function, contributing to cardiac aging and dysfunction.
11 citations
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January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
April 2012 in “The FASEB Journal” In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.
This study introduced Cadd4, a peptide-based degrader developed using computer-aided drug design, which effectively reduced PCSK9 levels and increased LDL receptor expression, resulting in decreased plasma cholesterol and LDL-C levels in hypercholesterolemic mice, without liver toxicity.
9 citations
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May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
January 2018 in “Springer eBooks” PDE inhibitors, especially PDE4 inhibitors like apremilast, are effective for certain inflammatory skin conditions but have side effects and can be costly.
1 citations
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January 2001 in “American Journal of Kidney Diseases” This report suggests that recombinant human erythropoietin use may be linked to alopecia in Southeast Asian women with chronic renal failure.
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.
October 2022 in “Journal of pharmaceutical negative results” This study found that patients with Alopecia areata in Iraq had significantly higher levels of CD4+, CD39+, and FOXP3+ Treg cells in their blood compared to healthy controls.