Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that combining fructose and DHT in rats successfully mimicked the clinical phenotypes of non-lean PCOS, providing a novel rodent model for this condition.

This article discusses folliculitis decalvans as a cicatricial alopecia caused by a neutrophilic immune reaction to microbial biofilms, but it reports no new clinical results.

This study reported that ovulatory PCOS is a milder form of the condition compared to classic PCOS phenotypes, which share similar clinical and hormone characteristics.

This study found that dermal sheath stem cell characteristics are lost with aging in humans, affecting skin rejuvenation and structure, and identified specific proteins like Activin A influencing keratinocyte and fibroblast activity.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

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.

Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.

This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This study found that stress plays a significant role in altering phenotypic features and body composition among PCOS patients, potentially worsening due to the COVID-19 pandemic.

This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.

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.

This study developed a deep learning-based tool to quantify individual hair fibers in mice, revealing distinct hair phenotypes linked to hormonal, genetic, and age-related factors, and suggesting its potential for new diagnostic methods through hair analysis.

This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

This study uses cryo-electron microscopy to reveal how androgen receptor forms a non-obligate dimer to bind DNA, with implications for prostate cancer development.

This review discusses the current state of research on genetic markers for predicting human phenotypic traits from DNA samples for forensic purposes and reports no new experimental findings.

In this study, researchers developed a responsive bilayer hydrogel for diabetic wounds that delivers drugs and oxygen in sync with healing stages, achieving a 99.1% wound closure rate in 14 days by integrating anti-inflammatory, antibacterial, and anti-fouling functions.

Bioengineered skin models aging well, useful for studying aging and testing treatments.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This review discusses the unique features of fetal wound healing that may enable scarless repair and reports no new experimental findings.

This review examines the histological features of keloid disease, its differentiation from similar skin conditions, and emphasizes gaps in current research while reporting no new clinical findings.

This article reviews the clinical features, diagnostic criteria, and possible genetic and environmental influences of polycystic ovary syndrome but provides no new research findings.

This review discusses the features of regulatory T cells and the modulation of Foxp3, emphasizing post-translational modifications' impact on Treg function but reports no new clinical results.

This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study highlights that insulin resistance is a key pathological feature for individuals with PCOS, particularly those with obesity, affecting the response of specialized cells and leading to increased inflammation, regardless of Body Mass Index differences within the PCOS population.

In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.

This study found that Neuregulin3 can influence the development and differentiation of mammary glands and epidermal features in mice, potentially by inducing c-Myc and altering cell proliferation and adhesion.