4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
2 citations
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August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
March 2025 in “MINAR International Journal of Applied Sciences and Technology” This study reviewed evidence on the role of specific genes (FKBP12, SAMAHD1, TRF2, CD155, and GATA3) in predicting how breast cancer patients might respond to adjuvant chemotherapy, aiming to monitor these markers in blood or tissue samples.
November 2008 in “Medical & surgical dermatology” This study reports that a prototype device may accurately measure changes in hair quantity, diameter, and density in patients with balding by assessing the cross-sectional area of hair bundles.
July 2004 in “British Journal of Dermatology” This paper summarizes the main findings presented in the plenary sessions of the British Journal of Dermatology, July 2004 issue, and provides no new research results.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
1 citations
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September 2025 in “Frontiers in Immunology” This study found that FRβ knockout mice exhibited autoimmune symptoms and slower tumor growth compared to wild type mice, suggesting that the FRβ receptor may play a role in regulating immune responses in tumors and autoimmune conditions.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
10 citations
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August 2021 in “EMBO Reports” This study found that the anti-apoptotic Bcl-2 protein plays a crucial role in maintaining hair follicle stem cell function and influences tissue regeneration and tumor formation in mice.
1 citations
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March 2024 in “International journal of molecular sciences” This review discusses how ionizing radiation causes skin damage by inducing cellular senescence in keratinocytes, which secrete inflammatory mediators, recruiting immune cells and exacerbating inflammation, impacting the skin barrier function and healing.
13 citations
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July 2004 in “Skinmed” This article reviews the structure and function of hair follicles, diagnostic approaches, and treatments for nonscarring alopecias, but reports no new clinical results.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
January 2024 in “Wiadomości Lekarskie” This study observed that patients with type 2 diabetes and sensorineural hearing loss exhibited significantly higher levels of peripheral myelin protein 22, particularly in those with microangiopathies, suggesting demyelinating processes in the auditory system.
In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
April 2018 in “Journal of Investigative Dermatology” This study found that in obese mice, local antimicrobial activity is reduced due to a loss of adipogenic stem cells and an increase in mature adipocytes, leading to higher susceptibility to skin infections.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
14 citations
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August 2009 in “Cancer epidemiology” This study found that AHCC significantly reduced alopecia caused by Ara-C in neonatal rats and improved liver function affected by 6-MP and MTX in mice.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Dsc3 function in the epidermis impaired cell adhesion, leading to blistering and hair loss, which suggests a potential cause of PV-like skin diseases according to this study.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.