Cargando…

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyper...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361458/ https://www.ncbi.nlm.nih.gov/pubmed/30716086 http://dx.doi.org/10.1371/journal.pone.0211647

Ejemplares similares

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
por: Chiarelli, Nicola, et al.
Publicado: (2016)

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
por: Chiarelli, Nicola, et al.
Publicado: (2019)

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome
por: Chiarelli, Nicola, et al.
Publicado: (2018)

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts
por: Zoppi, Nicoletta, et al.
Publicado: (2018)

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
por: Rymen, Daisy, et al.
Publicado: (2019)

Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
por: Chiarelli, Nicola, et al.
Publicado: (2021)

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
por: Ritelli, Marco, et al.
Publicado: (2022)

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
por: Ritelli, Marco, et al.
Publicado: (2020)

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders
por: Ritelli, Marco, et al.
Publicado: (2020)

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
por: Ritelli, Marco, et al.
Publicado: (2019)

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
por: Ritelli, Marco, et al.
Publicado: (2013)

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
por: Zoppi, Nicoletta, et al.
Publicado: (2015)

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations
por: Ritelli, Marco, et al.
Publicado: (2014)

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
por: Ritelli, Marco, et al.
Publicado: (2017)

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing
por: Ritelli, Marco, et al.
Publicado: (2020)

Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome
por: Whitaker, John K, et al.
Publicado: (2012)

Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?
por: Butler, Merlin G
Publicado: (2020)

Ehlers-Danlos syndrome
por: Taj, Farhana Tahseen, et al.
Publicado: (2014)

Goose skin in a girl with Ehlers–Danlos syndrome
por: Martínez-Coronado, Jared, et al.
Publicado: (2015)

Treatment of the wide open wound in the Ehlers-Danlos syndrome
por: Baik, Bong Soo, et al.
Publicado: (2019)

Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome
por: Liao, Zhuoyi, et al.
Publicado: (2022)

Visceroptosis and the Ehlers-Danlos Syndrome
por: Kucera, Stephen, et al.
Publicado: (2017)

GLUT10—Lacking in Arterial Tortuosity Syndrome—Is Localized to the Endoplasmic Reticulum of Human Fibroblasts
por: Gamberucci, Alessandra, et al.
Publicado: (2017)

Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential
por: Vroman, Robin, et al.
Publicado: (2021)

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome
por: Stock, Friedrich, et al.
Publicado: (2021)

Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome
por: Okuda-Ashitaka, Emiko, et al.
Publicado: (2023)

Síndrome de ehlers - Danlos: : actualización
por: Palacios Rodríguez, Irene Monserrat
Publicado: (1997)

Ehlers-Danlos syndrome type IV
por: Germain, Dominique P
Publicado: (2007)

Arterial Elasticity in Ehlers-Danlos Syndromes
por: Miller, Amanda J., et al.
Publicado: (2020)

Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome
por: Royer, Shaina P., et al.
Publicado: (2022)

Oral manifestations of Ehlers‐Danlos syndromes
por: Lepperdinger, Ulrike, et al.
Publicado: (2021)

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
por: Micale, Lucia, et al.
Publicado: (2019)

Gastric perforation leading to the diagnosis of classic Ehlers–Danlos syndrome: a case report
por: Alotaibi, Ahad E., et al.
Publicado: (2021)

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome
por: Junkiert-Czarnecka, Anna, et al.
Publicado: (2022)

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome
por: Lim, Pei Jin, et al.
Publicado: (2019)

Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome
por: Bourji, Khalil, et al.
Publicado: (2019)

Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins
por: Bin, Bum-Ho, et al.
Publicado: (2014)

Ehlers-Danlos syndrome versus cleidocranial dysplasia
por: Bedeschi, Maria Francesca, et al.
Publicado: (2014)

Cephalohematoma in a Patient with Ehlers-Danlos Syndrome
por: Felton, Brent M., et al.
Publicado: (2013)

Coexistence of Ehlers-Danlos syndrome and multiple sclerosis
por: Kose Ozlece, Hatice, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_m3qg0jon5odlk3g24kidopu9v2