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
A novel spliceosomopathy caused by de novo SF3B3 variants

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Vitamin K in dermatology

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Acquired reactive perforating collagenosis on the scalp during pembrolizumab treatment

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Blocking Sphingosine 1‐phosphate Metabolism With Fingolimod Prevents the Progression of Vascular Smooth Muscle Cells Calcification in Chronic Kidney Disease

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REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

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Genetic elastic fiber disorders as neurovascular syndromes: An emerging perspective

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Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization

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PDXK Mutation Causes a Late-Onset Pyridoxal 5’-Phosphate-Responsive Peripheral Neuropathy Preceded by Neonatal Seizures

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Patient and carer perceptions and acceptability of current management practices in paediatric X-linked hypophosphatemia treated with burosumab therapy

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Case 21: A 29-Year-Old Man With Bloating and Borborygmus

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近5年高被引文献
Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis

article Full Text OpenAlex 274 FWCI42.6639

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

review Full Text OpenAlex 117 FWCI15.8633

Vascular calcification: Molecular mechanisms and therapeutic interventions

review Full Text OpenAlex 86 FWCI14.409

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

article Full Text OpenAlex 86 FWCI6.6858

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

article Full Text OpenAlex 83 FWCI6.7726

Targeting TGF-β for treatment of osteogenesis imperfecta

article Full Text OpenAlex 74 FWCI13.0747

Ichthyosis

review Full Text OpenAlex 72 FWCI15.3279

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

article Full Text OpenAlex 64 FWCI9.7061

Use of Janus kinase inhibitors in dermatomyositis: a systematic literature review

review Full Text OpenAlex 64 FWCI9.577

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

article Full Text OpenAlex 57 FWCI8.9384