In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” This material provides comprehensive information about actinic keratosis, highlighting its potential outcomes, risk factors, clinical features, diagnosis, and treatment considerations for medical specialists.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” This study provides a comprehensive overview of actinic keratosis, highlighting its potential to progress to squamous cell carcinoma and noting that routine treatment poses a significant burden on healthcare providers.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
February 2024 in “PloS one” This study found that certain nutraceuticals did not interfere with tamoxifen's inhibition of estrogen in breast cancer cells and may enhance its effects, suggesting potential as an adjuvant therapy for hair loss in patients undergoing endocrine therapy.
October 2023 in “Frontiers in endocrinology” This review investigates molecular mechanisms behind PCOS pathogenesis and discusses potential therapies, but reports no new clinical results.
Custom skincare can be made based on genes, fewer cats in Lublin have FeLV/FIV than national average, and studies also looked at small water bodies, river pollution, guppy growth, toxins in biochars, palm oil issues, and pumpkin seed oil for hair strength.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
January 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified non-structural proteins in preschool children's scalp hair that suggest potential biomarkers for brain development, immune function, and stress response with heritability and age-related differences.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
September 2019 in “Journal of Investigative Dermatology” This study suggests that subtle modifications in ribosomal RNA methylation may influence cellular physiology and contribute to ribosome specialization in senescent human dermal fibroblasts.
September 2019 in “Journal of Investigative Dermatology” This study found that polyamine levels were higher in the vertex hair than in occipital hair among patients with pattern baldness, suggesting a relation to hair loss development in the scalp's vertex region.
April 2018 in “Journal of Investigative Dermatology” The study found that, unlike in actinic keratosis and squamous cell carcinoma, basal cell carcinoma tissues showed higher expression of nidogen1 and Col4 in both basement membranes and surrounding stroma compared to normal skin.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
April 2018 in “Journal of Investigative Dermatology” In a clinical phase I/IIa study, subcutaneous injections of the peptide FOL-005 increased hair growth by 8% and were safe for treating alopecia.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
March 2016 in “Journal of the European Academy of Dermatology and Venereology” The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
January 2014 in “S. Karger AG eBooks” Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
January 2013 in “Dermatology” The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
24 citations
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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.
8 citations
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May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
32 citations
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December 2018 in “Cytokine” This review discusses the involvement of type I interferons in skin autoimmune and inflammatory diseases but reports no new clinical results.
13 citations
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December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
10 citations
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May 2020 in “Journal of proteome research” This study found that hair proteome profiling and genetically variant peptide identification in hairs remained effective after an explosive blast, indicating potential for forensic human identification despite damage.
8 citations
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January 2023 in “Journal of Clinical and Translational Hepatology” This study examines the development and application of cultured models for gallbladder carcinoma and highlights innovations and challenges in constructing effective in vitro growth models for cancer research.