Cargando…

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic ane...

Descripción completa

Detalles Bibliográficos
Autores principales:	Arnaud, Pauline, Mougin, Zakaria, Boileau, Catherine, Le Goff, Carine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667168/ https://www.ncbi.nlm.nih.gov/pubmed/34912367 http://dx.doi.org/10.3389/fgene.2021.734718

Ejemplares similares

ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms
por: Mougin, Zakaria, et al.
Publicado: (2021)

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias
por: Jensen, Sacha A., et al.
Publicado: (2015)

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia
por: Hubmacher, Dirk, et al.
Publicado: (2015)

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
por: Li, Mojiang, et al.
Publicado: (2022)

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
por: Arnaud, Pauline, et al.
Publicado: (2021)

The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases
por: Karoulias, Stylianos Z., et al.
Publicado: (2020)

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
por: Piccolo, Pasquale, et al.
Publicado: (2019)

Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome
por: Aalders, Jeffrey, et al.
Publicado: (2020)

Nanoscale Structural Comparison of Fibrillin-1 Microfibrils Isolated from Marfan and Non-Marfan Syndrome Human Aorta
por: Șulea, Cristina M., et al.
Publicado: (2023)

Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome
Publicado: (1994)

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
por: Twigg, S.R.F., et al.
Publicado: (2016)

Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10
por: Wu, Hang-Jing, et al.
Publicado: (2021)

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families
por: Zhao, Feng, et al.
Publicado: (2013)

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome
por: Pepe, Guglielmina, et al.
Publicado: (2014)

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
por: Gustafson, Jonas, et al.
Publicado: (2022)

A novel variant in fibrillin-1 is responsible for early-onset familial thoracic aortic aneurysms in Marfan patients
por: Duan, Yanyu, et al.
Publicado: (2021)

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability
por: Grange, Thomas, et al.
Publicado: (2020)

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome
por: Benarroch, Louise, et al.
Publicado: (2019)

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
por: Li, An-Lei, et al.
Publicado: (2023)

Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome
por: Jones, Wendell, et al.
Publicado: (2019)

DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome
por: Arai, Yoshikazu, et al.
Publicado: (2020)

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1
por: Liu, Xin, et al.
Publicado: (2022)

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression
por: Benarroch, Louise, et al.
Publicado: (2018)

Fibrillins in Tendon
por: Giusti, Betti, et al.
Publicado: (2016)

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
por: Rainger, Joe, et al.
Publicado: (2011)

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
por: Rainger, Joe, et al.
Publicado: (2018)

Analysis of Disease Progression-Associated Gene Expression Profile in Fibrillin-1 Mutant Mice: New Insight into Molecular Pathogenesis of Marfan Syndrome
por: Kim, Koung Li, et al.
Publicado: (2014)

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
por: Peng, Qian, et al.
Publicado: (2016)

Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
por: Zhang, Miao, et al.
Publicado: (2018)

Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding
por: Haller, Stephen J., et al.
Publicado: (2020)

Fibrillin-1 mutation contributes to Marfan syndrome by inhibiting Cav1.2-mediated cell proliferation in vascular smooth muscle cells
por: Lin, Wenfeng, et al.
Publicado: (2023)

Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome
por: Chen, Ze-Xu, et al.
Publicado: (2023)

Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
por: Shen, Ren, et al.
Publicado: (2023)

Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia
por: Kate, A., et al.
Publicado: (2009)

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study
por: McInerney-Leo, Aideen M., et al.
Publicado: (2020)

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance
por: Chen, Ze-Xu, et al.
Publicado: (2022)

Microenvironmental Regulation by Fibrillin-1
por: Sengle, Gerhard, et al.
Publicado: (2012)

Verification of the Role of ADAMTS13 in the Cardiovascular Disease Using Two-Sample Mendelian Randomization
por: Ye, Zixiang, et al.
Publicado: (2021)

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
por: Hu, Kui, et al.
Publicado: (2022)

IL‐6 Regulates Extracellular Matrix Remodeling Associated With Aortic Dilation in a Fibrillin‐1 Hypomorphic mgR/mgR Mouse Model of Severe Marfan Syndrome
por: Ju, Xiaoxi, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_fp4bskjn46rjktme6mt45ndj2f