Results 81 to 90 of about 2,890 (187)

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

Highly effective combination of BRG1/BRM inhibitor with BET inhibitor or decitabine for high‐risk MECOM‐rearranged AML

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract In AML with 3q26.2 rearrangements (r) the distal GATA2 hematopoietic enhancer becomes aberrantly relocated leading to activation of EVI1 expression. EVI1 is a transcriptional regulator that plays a role in proliferation and maintenance of a stem cell‐like phenotype in AML.
Warren Fiskus, Christopher P. Mill, Jessica Piel, Mike Collins, Murphy Hentemann, Branko Cuglievan, Christine E. Birdwell, Kaberi Das, John A. Davis, Hanxi Hou, Antrix Jain, Anna Malovannaya, Lauren B. Flores, Tapan M. Kadia, Naval Daver, Koji Sasaki, Koichi Takahashi, Danielle Hammond, Jian Wang, Sanam Loghavi, Xiaoping Su, Courtney D. DiNardo, Ruud Delwel, Kapil N. Bhalla   +23 more
wiley   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +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

Lec3 Chinese Hamster Ovary Mutants Lack UDP-N-acetylglucosamine 2-Epimerase Activity Because of Mutations in the Epimerase Domain of the Gne Gene [PDF]

, 2003
Yeongjin Hong, Pamela Stanley
openalex   +1 more source

BRD4 Inhibitor GNE-987 Exerts Anticancer Effects by Targeting Super-Enhancer-Related Gene LYL1 in Acute Myeloid Leukemia [PDF]

, 2022
Xu Sang, Yongping Zhang, Fang Fang, Lijun Gao, Yanfang Tao, Xiaolu Li, Zimu Zhang, Jianwei Wang, Yuanyuan Tian, Zhiheng Li, Di Yao, Yumeng Wu, Xinran Chu, Kunlong Zhang, Li Ma, Lihui Lu, Yanling Chen, Juanjuan Yu, Ran Zhuo, Shuiyan Wu, Zhen Zhang, Jian Pan, Shaoyan Hu   +22 more
openalex   +1 more source

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report

Hematology
Background Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies.Case Presentation A 3-month-old infant presented with severe thrombocytopenia (platelet ...
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser   +1 more
doaj   +1 more source

847. Safety and Toxicity Profile of Intra-Muscular and Systemic Delivery of a Novel GNE DNA Liposomal Nanoparticle (GDLP) for Gene Therapy of Hereditary Inclusion Body Myopathy (HIBM2) [PDF]

, 2008

openalex   +1 more source

Aeromonas hydrophila flagella glycosylation: involvement of a lipid carrier.

PLoS ONE, 2014
Polar flagellin proteins from Aeromonas hydrophila strain AH-3 (serotype O34) were found to be O-glycosylated with a heterogeneous glycan. Mutants unable to produce WecP or Gne enzymes showed altered motility, and the study of their polar flagellin ...
Susana Merino, Kelly M Fulton, Susan M Twine, Markus Wilhelms, Raquel Molero, Juan M Tomás   +5 more
doaj   +1 more source

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

, 2019
Kishan KC, Rui Li, Feng Cui, Qi Yu, Anne R. Haake   +4 more
openalex   +1 more source