Results 51 to 60 of about 9,183 (184)

Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy

Advanced Science, EarlyView.
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen, Yan Yang, Haihan Gao, Yan Liu, Xinyue Wang, Linghao Song, Ruohong Li, Ao Miao, Jie Xu, Zhennan Zhao, Dan Li, Shenjie Peng, Linzhao Li, Min Zhang, Yonghang Liu, Liren Wang, Tianhui Chen, Yongxiang Jiang   +17 more
wiley   +1 more source

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Molecular and Cellular Probes, 1994
Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.
C, Hayward, M E, Porteous, D J, Brock
openaire   +2 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

SnRNA‐seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations

Animal Models and Experimental Medicine, EarlyView.
To dissect the cellular heterogeneity and invasive mechanisms of limb venous malformations (VMs), this study first obtained tissue samples from four patients with VMs and four normal controls (NC). Single‐nucleus suspension was prepared, followed by transcriptome library construction and sequencing. After pretreatment, quality control, standardization,
Junjie Lin, Tingting Liu, Bin Fang, Xiaojuan Feng, Wenting Jiao, Changkuan Chen, Yaqing Ding, Gaozan Zhu, Wenqiu Wang, Wenbo Liu, Yuanqi Li, Shoufu Hou, Jianshe Wei, Junbo Qiao   +13 more
wiley   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Clinical and genetic findings in Chinese families with congenital ectopia lentis

Molecular Genetics & Genomic Medicine, 2023
Background Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a ...
Xin Liu, Liman Niu, Liyun Zhang, Liqiong Jiang, Kaiqing Liu, Xueping Wu, Xinhua Liu, Jiantao Wang   +7 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan

Revista Portuguesa de Cardiologia, 2011
Resumo: Introdução: O diagnóstico da Síndrome de Marfan (SM) depende fundamentalmente de uma avaliação clínica multidisciplinar. O seu diagnóstico molecular, através da identificação de mutações no gene FBN1, pode permitir estabelecer um diagnóstico ...
Ana Lebreiro, Elisabete Martins, Cristina Cruz, Jorge Almeida, Sofia Pimenta, Miguel Bernardes, José Carlos Machado, M. Júlia Maciel, Cassiano Abreu-Lima   +8 more
doaj   +1 more source

Fibrillin-1 Regulates Arteriole Integrity in the Retina

Biomolecules, 2022
Fibrillin-1 is an extracellular matrix protein that assembles into microfibrils that provide critical functions in large blood vessels and other tissues.
Florian Alonso, Ling Li, Isabelle Fremaux, Dieter Peter Reinhardt, Elisabeth Génot   +4 more
doaj   +1 more source

Adenosine—A Regulator of Human Testicular Peritubular Cells

Andrology, EarlyView.
ABSTRACT Background Extracellular purines, in particular ATP and adenosine, are regulators of physiological and pathophysiological processes throughout the human body. Roles in the human testis are emerging and include actions on peritubular cells, which form the wall of seminiferous tubules.
Lina Scholz, Annika Liebich, Youli Stepanov, Jan B. Stöckl, Mirko Peitzsch, Michaela Schneider, Julia Schneider, Nicole Kreitmair, Matthias Trottmann, Frank‐Michael Köhn, Jovica Ninkovic, Thomas Fröhlich, Artur Mayerhofer   +12 more
wiley   +1 more source