Results 91 to 100 of about 2,519,227 (189)

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient

, 2019
GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis.
Nastaran Rafiei, Shaweta Khosa, Valles-Ayoub, Yadira, Darvish, Daniel, Daniel Darvish, Bhavesh Trikamji, Trikamji, Bhavesh, Moheb, Negar, MD, Yadira Valles-Ayoub, Robert Freundlich, Shri K. Mishra, Negar Moheb, Khosa, Shaweta, Rafiei, Nastaran, Freundlich, Robert, Mishra, Shri K   +15 more
core   +2 more sources

GNE Myopathy: Rare Muscle Weakness Disease [PDF]

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core   +1 more source

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

Molecules
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni   +9 more
doaj   +1 more source

GNE genotype explains 20% of phenotypic variability in GNE myopathy

, 2019
Objective: To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. Methods: Systematic literature review identified 11 articles reporting 759 patients.
Argov, Zohar, Mansbach, Hank, Lochmüller, Hanns, Wilson, Ian J., Nishino, Ichizo, Pogoryelova, Oksana   +5 more
core   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Additional file 1 of GNE: a deep learning framework for gene network inference by aggregating biological information

, 2019
Table S1. Includes yeast gene pairs predicted by GNE with probabilities of 0.5 or higher.
Qi Yu (279662), Rui Li (4631), Feng Cui (23907), Anne Haake (6561851), Kishan KC (6561842)   +4 more
core   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Hereditary inclusion body myopathy: novel GNE mutations in non-middle eastern patients [PDF]

, 2010
Autosomal recessive Hereditary Inclusion Body Myopathy (HIBM) is a progressive adult onset skeletal muscle wasting disorder characterized by limb weakness with sparing of the quadriceps.
Saechao, Chai Weun
core  

Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy [PDF]

, 2013
PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs.
최영철, 박형준, 신하영
core   +1 more source