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
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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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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Localized cutaneous nodular amyloidosis from insulin injections in a 40-year-old woman

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Epidemiology of Dermatomyositis and Other Idiopathic Inflammatory Myopathies in Northern Spain

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Single-cell RNA-seq reveals immune cell heterogeneity and increased Th17 cells in human fibrotic skin diseases

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Tackling an unusual diagnosis

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[A case of vedolizumab treatment for refractory juvenile dermatomyositis with secondary intestinal perforation].

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Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers–Danlos Syndrome

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

article Full Text OpenAlex 250 FWCI46.04626109

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

review Full Text OpenAlex 112 FWCI23.28509038

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

article Full Text OpenAlex 78 FWCI9.35325601

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

article Full Text OpenAlex 78 FWCI9.47632516

Vascular calcification: Molecular mechanisms and therapeutic interventions

review Full Text OpenAlex 73 FWCI14.15739136

Ichthyosis

review Full Text OpenAlex 66 FWCI16.34316616

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

review Full Text OpenAlex 62 FWCI13.91413972

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 59 FWCI14.34587604

Medial Arterial Calcification: A Significant and Independent Contributor of Peripheral Artery Disease

article Full Text OpenAlex 55 FWCI16.63010654

Light Chain Amyloidosis: Epidemiology, Staging, and Prognostication

review Full Text OpenAlex 53 FWCI6.39959622