Vladimir Estivill-Castro

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

Publisher: Public Library of Science (PLoS)

Date: 18-06-2008

DOI: 10.1371/JOURNAL.PONE.0002477

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Publisher: Elsevier BV

Date: 09-2015

DOI: 10.1016/J.NMD.2015.07.004

Abstract: GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from North West India. The clinical features in the Bulgarian GNE group can be described with disease onset mostly in the third decade, but in in idual cases, onset was as early as 10 years of age. The majority of patients had foot drop as the first symptom, but three patients developed hand weakness first. Muscle weakness was early and severe for the tibialis anterior, and minimal or late for quadriceps femoris, and respiratory muscles were only subclinically affected even in the advanced stages of the disease. During a 15-year follow-up period, 32 patients became non-ambulant. The average period between disease onset and loss of ambulation was 10.34 ± 4.31 years, ranging from 3 to 20 years. Our analysis of affected sib pairs suggested a possible role of genetic modifying factors, accounting for significant variation in disease severity.

3LP: Three Layers of Protection for Individual Privacy in Facebook

Publisher: Springer International Publishing

Date: 2017

DOI: 10.1007/978-3-319-58469-0_8

Support vector clustering through proximity graph modelling

Publisher: Nanyang Technol. Univ

Date: 2002

DOI: 10.1109/ICONIP.2002.1198191

Genetic algorithm with healthy population and multiple streams sharing information for clustering

Publisher: Elsevier BV

Date: 12-2016

DOI: 10.1016/J.KNOSYS.2016.09.030

Real-time detection of shill bidding in online auctions: A literature review

Publisher: Elsevier BV

Date: 08-2017

DOI: 10.1016/J.COSREV.2017.05.001

Combining K-Means and a genetic algorithm through a novel arrangement of genetic operators for high quality clustering

Publisher: Elsevier BV

Date: 2018

DOI: 10.1016/J.ESWA.2017.09.005

Decomposable and Executable Models for Verification of Real-Time Systems

Publisher: Springer Nature Switzerland

Date: 2023

DOI: 10.1007/978-3-031-38821-7_7

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Publisher: Springer Science and Business Media LLC

Date: 05-05-2011

DOI: 10.1007/S00415-011-6055-4

Abstract: Neutral lipid storage disease is caused by mutations in the CGI-58 or the PNPLA2 genes. Lipid storage can be detected in various cell types including blood granulocytes. While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were reported with skeletal and cardiac muscle disease only. We describe clinical, myopathological, magnetic resonance imaging (MRI), and genetic findings of six patients carrying different recessive PNPLA2 mutations. Pulse-chase labeling of control and patient cells with supplementation of clenbuterol, salmeterol, and dexamethasone was performed in vitro. The patients share a recognizable phenotype with prominent shoulder girdle weakness and mild pelvic girdle and distal muscle weakness, with highly elevated creatine kinase (CK) and cardiomyopathy developing at later stages. Muscle histology invariably reveals massive accumulation of lipid droplets. New muscle or whole-body MRI techniques may assist diagnosis and may become a useful tool to quantify intramuscular lipid storage. Four novel and two previously reported mutations were detected, affecting different parts of the PNPLA2 gene. Activation of hormone-sensitive lipase by beta-adrenergic substances such as clenbuterol appears to bypass the enzymatic block in PNPLA2-deficient patient cells in vitro. PNPLA2 deficiency is a slowly progressive myopathy with onset around the third decade. Cardiac involvement is relatively common at a later stage. Muscle MRI may detect increased lipid in a characteristic distribution, which could be used for monitoring disease progression. Beta-adrenergic agents may be beneficial in improving triacylglycerol breakdown in patients with PNPLA2 mutations.

Data Swapping: Balancing Privacy against Precision in Mining for Logic Rules

Publisher: Springer Berlin Heidelberg

Date: 1999

DOI: 10.1007/3-540-48298-9_41

Empowering users of social networks to assess their privacy risks

Publisher: IEEE

Date: 10-2014

DOI: 10.1109/BIGDATA.2014.7004287

Social media users' privacy against malicious data miners

Publisher: IEEE

Date: 11-2017

DOI: 10.1109/ISKE.2017.8258834

What effect does an animal robot called CuDDler have on the engagement and emotional response of older people with Dementia?

Publisher: Springer Science and Business Media LLC

Date: 24-10-2016

DOI: 10.1007/S12369-015-0326-7

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

Publisher: Springer Science and Business Media LLC

Date: 27-01-2020

DOI: 10.1038/S41591-019-0738-2

Universitat Pompeu Fabra

Location: Spain

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Universidad Nacional Autonoma De Mexico

Location: Mexico

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Discovery Projects - Grant ID: DP0451129

Start Date: 2004

End Date: 12-2007

Amount: $195,000.00

Funder: Australian Research Council

Discovery Projects - Grant ID: DP0773331

Start Date: 2007

End Date: 12-2011

Amount: $380,813.00

Funder: Australian Research Council

Discovery Projects - Grant ID: DP110101792

Start Date: 2011

End Date: 12-2013

Amount: $210,000.00

Funder: Australian Research Council

Special Research Initiatives - Grant ID: SR0354744

Start Date: 2004

End Date: 06-2006

Amount: $20,000.00

Funder: Australian Research Council

Special Research Initiatives - Grant ID: SR0354476

Start Date: 11-2003

End Date: 12-2004

Amount: $20,000.00

Funder: Australian Research Council

Discovery Projects - Grant ID: DP0209818

Start Date: 2002

End Date: 12-2006

Amount: $181,538.00

Funder: Australian Research Council

Special Research Initiatives - Grant ID: SR0354584

Start Date: 03-2004

End Date: 11-2004

Amount: $10,000.00

Funder: Australian Research Council