Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit
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چکیده
منابع مشابه
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the c...
متن کاملShort stature as the first manifestation of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is an autosomal dominant disorder caused by heterozygous mutations in the polymerase, delta 1, catalytic subunit (POLD1) gene. Here, we report the clinical description of a 10-year-old boy who first presented with short stature and hypogonadism. We screened this patient for mutations by focused exome sequencin...
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Microfibrils are essential elements in elastic and nonelastic tissues contributing to homeostasis and growth factor regulation. Fibrillins form the core of these multicomponent assemblies. Various human genetic disorders, the fibrillinopathies, arise from mutations in fibrillins and are frequently associated with aberrant microfibril assembly. These disorders include Marfan syndrome, Weill-Marc...
متن کاملCharacterization of amine donor and acceptor sites for tissue type transglutaminase using a sequence from the C-terminus of human fibrillin-1 and the N-terminus of osteonectin.
Transglutaminase (TGase)-modified proteins are commonly observed in a wide range of biological systems. Therefore, the identification of TGase substrates and respective consensus sites may contribute to a better understanding of the physiological role of TGase. In this study, we identified enzyme-specific properties of two peptide sequences, EDGFFKI, derived from human fibrillin-1, and the prev...
متن کاملHepatopulmonary Syndrome, Severe Cyanosis and Marfanoid Habitus.
We report the case of a 17-year-old male with Marfanoid habitus who presented with deep cyanosis, haematemesis, dyspnoea and platypnoea. He had oesophageal varices, indicating portal hypertension, with mildly deranged liver function. His arterial blood gas (ABG) revealed hypoxia and orthodeoxia. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium macro-aggregated albumi...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2018
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.031542