Results 111 to 120 of about 6,334 (202)

Presumed pseudokinase VRK3 functions as a BAF kinase [PDF]

open access: yes
Vaccinia-related kinase 3 (VRK3) is known as a pseudokinase that is catalytically inactive due to changes in motifs that are essential for kinase activity. Although VRK3 has been regarded as a genuine pseudokinase from structural and biochemical studies,
Kim, KT   +5 more
core   +1 more source

An inner nuclear membrane protein induces rapid differentiation of human induced pluripotent stem cells

open access: yesStem Cell Research, 2017
The ability of iPSCs (induced pluripotent stem cells) to generate any cell type in the body makes them valuable tools for cell replacement therapies. However, differentiation of iPSCs can be demanding, slow and variable.
Cecilia Bergqvist   +4 more
doaj   +1 more source

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

open access: yesMuscles
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus   +10 more
doaj   +1 more source

Distrofia muscular de Emery-Dreifuss: a propósito de um caso clínico

open access: yesRevista Portuguesa de Cardiologia, 2012
Resumo: A distrofia muscular de Emery Dreifuss tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína do invólucro nuclear, a emerina.
Fátima Saraiva   +6 more
doaj   +1 more source

Chromosome structure: improved immunolabeling for electron microscopy [PDF]

open access: yes, 2018
To structurally dissect mitotic chromosomes, we aim to position along the folded chromatin fiber proteins involved in long-range order, such as topoisomerase IIα (topoIIα) and condensin.
Eltsov, Michail   +2 more
core  

A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death

open access: yesPharmacogenomics and Personalized Medicine, 2019
Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4 1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China ...
Kong D   +8 more
doaj  

Cell Cycle Dynamics of the Nuclear Envelope

open access: yesThe Scientific World Journal, 2003
The nuclear envelope (NE) consists of an inner and an outer membrane, nuclear pore complexes, and the underlying nuclear lamina, a filamentous scaffold structure formed by lamins.
Roland Foisner
doaj   +1 more source

Emery–Dreifuss muscular dystrophy: a test case for precision medicine

open access: yesThe Application of Clinical Genetics, 2016
De-Ann M Pillers,1 Nicholas H Von Bergen21Division of Neonatology and Newborn Medicine, 2Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USAAbstract: Emery–Dreifuss muscular dystrophy (EDMD) is ...
Pillers DAM, Von Bergen NH
doaj  

Brazilin Isolated from Caesalpinia sappan Suppresses Nuclear Envelope Reassembly by Inhibiting Barrier-to-Autointegration Factor Phosphorylation [PDF]

open access: yes
To date, many anticancer drugs have been developed by directly or indirectly targeting microtubules, which are involved in cell division. Although this approach has yielded many anticancer drugs, these drugs produce undesirable side effects.
Baek, NI   +11 more
core   +1 more source

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