专题：Dermatological and Skeletal Disorders

This cluster of papers focuses on genetic disorders such as Pseudoxanthoma Elasticum, Arterial Calcification, and Osteopoikilosis, caused by mutations in genes like ABCC6, ENPP1, and TGF-ß1. These mutations lead to ectopic mineralization and connective tissue abnormalities, contributing to the understanding of genetic heterogeneity and clinical manifestations of these diseases.
最新文献
SHALE GRAY

book-chapter Full Text OpenAlex

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis

article Full Text OpenAlex

Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease

article Full Text OpenAlex

Intramedullary telescopic nailing method applied in cases with osteogenesis imperfecta and our results

article Full Text OpenAlex

FRULLANIA

book-chapter Full Text OpenAlex

Pyodermatitis-Pyostomatitis Vegetans with eyelid Involvement: A Rare Manifestation in a Patient with Ulcerative Colitis

article Full Text OpenAlex

Linear Focal Elastosis: What We Know From Epidemiological Studies

article Full Text OpenAlex

Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features

article Full Text OpenAlex

Stoa

article Full Text OpenAlex

Escleredema de Buschke com acometimento escrotal e abdominal: relato de caso de apresentação atípica

article Full Text OpenAlex

近5年高被引文献
Single-cell RNA-seq reveals fibroblast heterogeneity and increased mesenchymal fibroblasts in human fibrotic skin diseases

article Full Text OpenAlex 333 FWCI61.962

Randall’s plaque and calcium oxalate stone formation: role for immunity and inflammation

review Full Text OpenAlex 290 FWCI10.589

Medial Arterial Calcification

review Full Text OpenAlex 218 FWCI7.296

Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis

article Full Text OpenAlex 200 FWCI30.829

Elastic fibers during aging and disease

review Full Text OpenAlex 120 FWCI4.386

Vascular Calcification: Key Roles of Phosphate and Pyrophosphate

review Full Text OpenAlex 87 FWCI3.123

Molecular Mechanisms of Vascular Health: Insights From Vascular Aging and Calcification

review Full Text OpenAlex 84 FWCI4.214

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

review Full Text OpenAlex 80 FWCI2.165

An update on vascular calcification and potential therapeutics

review Full Text OpenAlex 73 FWCI2.772

Screening for Cardiac Amyloidosis 5 to 15 Years After Surgery for Bilateral Carpal Tunnel Syndrome

article Full Text OpenAlex 63 FWCI6.112