Results 11 to 20 of about 15,103 (215)

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]

Journal of Human Genetics, 2006
Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene have been identified as the genetic basis ...
Byoung Joon Kim, Chang‐Seok Ki, Jong‐Won Kim, Duk Hyun Sung, Young‐Chul Choi, Seung Hyun Kim   +5 more
exaly   +7 more sources

Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes [PDF]

Transfusion, 2023
AbstractBackgroundThe inherited macrothrombocytopenias are rare disorders and the underlying cause can be identified in many cases but in some, this can remain enigmatic. Platelet transfusions are often administered during hemorrhagic events.MethodsA patient with previously unexplained inherited macrothrombocytopenia with a platelet count between 3–20 ×
Caitlin Montcrieff, Karen Ferreira, Tracey A. Cheves, Lauren Massingham, Joseph D. Sweeney   +4 more
openalex   +3 more sources

GNE: A deep learning framework for gene network inference by aggregating biological information [PDF]

BMC Systems Biology, 2018
AbstractThe topological landscape of gene interaction networks provides a rich source of information for inferring functional patterns of genes or proteins. However, it is still a challenging task to aggregate heterogeneous biological information such as gene expression and gene interactions to achieve more accurate inference for prediction and ...
K C Kishan, Rui Li, Feng Cui, Qi Yu, Anne R. Haake   +4 more
openalex   +4 more sources

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj   +2 more sources

Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy [PDF]

Future Science OA
Aims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis, Christopher M Jay, Donald Rao, Jeremy Winchester, Alexander Nemunaitis, Emily Nemunaitis, Ernest Bognar, Gladice Wallraven, Laura Stanbery, Adam Walter, Sep Sarshar, John Nemunaitis   +11 more
doaj   +2 more sources

In vivo and in vitro genome editing to explore GNE functions

Frontiers in Genome Editing, 2022
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum   +6 more
doaj   +3 more sources

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression [PDF]

Cells
GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +2 more sources

Mechanistic role of GNE-987 targeting BRD4-HCP5 axis in pediatric T-cell acute lymphoblastic leukemia. [PDF]

J Cell Commun Signal
Abstract This study aims to explore the mechanism of action of the Bromodomain‐containing protein 4 (BRD4) inhibitor GNE‐987 in the treatment of pediatric T‐cell Acute Lymphoblastic Leukemia (T‐ALL), focusing on its effect in inhibiting T‐ALL cell proliferation by activating the HLA Complex P5 (HCP5) Super‐enhancer.
Sang X, Jiang M, Guan Y, Chen X, Zhang Z, Wu Y, Peng W.   +6 more
europepmc   +2 more sources

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne, Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Avi Harazi, Stella Mitrani-Rosenbaum, Alon Daya   +7 more
doaj   +3 more sources

GNE myopathy: History, etiology, and treatment trials

Frontiers in Neurology, 2022
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen, Khalid Alrasheed, Tahseen Mozaffar, Tahseen Mozaffar, Tahseen Mozaffar   +4 more
doaj   +3 more sources