Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

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 reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.

This study found that rice bran oil extracted by supercritical CO2 can be considered non-genotoxic based on in vitro and in vivo test results, despite some chromosomal aberrations observed under specific conditions.

This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.

This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

Histone demethylases play a key role in the development of many diseases and may be targets for treatment.

This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.

This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.

This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.

This article reviews various topics discussed at a workshop on hair disorders, focusing on hair biology, diagnosis, and challenges in therapy evaluation, without presenting new clinical findings.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.

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.

The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.

This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.

This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.

AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.

This review discusses the clinical and molecular history of 5-alpha reductase deficiency, highlighting its role in male sexual differentiation and potential therapeutic applications, but reports no new research outcomes.

This study reports that a 14-year-old female rhesus monkey with alopecia universalis was found to have a T-cell-mediated autoimmune disease similar to human alopecia areata universalis.

This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.

This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.

This case report describes an 8-year-old boy with acrodermatitis enteropathica who showed significant recovery from severe symptoms after receiving a therapeutic zinc supplement.

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.