Detalles de la búsqueda
1.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794058
2.
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Hum Mutat
; 40(10): 1886-1898, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31250519
3.
Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Biochim Biophys Acta Mol Basis Dis
; 1864(4 Pt A): 1010-1023, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29309923
4.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28073787
5.
Multifaced Roles of the αvß3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
Int J Mol Sci
; 19(4)2018 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29587413
6.
GLUT10 deficiency leads to oxidative stress and non-canonical αvß3 integrin-mediated TGFß signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
Hum Mol Genet
; 24(23): 6769-87, 2015 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26376865
7.
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
Int J Mol Sci
; 18(8)2017 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-28829359
8.
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Am J Med Genet A
; 170A(1): 103-15, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26373698
9.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-22265013
10.
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nat Genet
; 38(4): 452-7, 2006 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-16550171
11.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Am J Hum Genet
; 88(6): 767-777, 2011 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21664999
12.
Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.
Biochim Biophys Acta
; 1820(10): 1576-87, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22705941
13.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Eur J Hum Genet
; 31(5): 596-601, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36599937
14.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Am J Med Genet A
; 158A(5): 1164-9, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22488877
15.
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.
Cells
; 11(24)2022 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36552803
16.
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.
Biochim Biophys Acta Mol Basis Dis
; 1867(4): 166051, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33383104
17.
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?
Cells
; 10(11)2021 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34831458
18.
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated α-SMA cytoskeleton assembly and autophagy.
Biochim Biophys Acta Mol Basis Dis
; 1866(6): 165742, 2020 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32105826
19.
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.
Biochim Biophys Acta
; 1783(6): 1177-88, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18405669
20.
Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile EhlersâDanlos Syndromes.
Genes (Basel)
; 10(8)2019 08 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31409039