Results 41 to 50 of about 2,885,338 (147)

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Dissection of splicing regulation at an endogenous locus by zinc-finger nuclease-mediated gene editing. [PDF]

PLoS ONE, 2011
Sequences governing RNA splicing are difficult to study in situ due to the great difficulty of traditional targeted mutagenesis. Zinc-finger nuclease (ZFN) technology allows for the rapid and efficient introduction of site-specific mutations into ...
Sandra Cristea, Philip D Gregory, Fyodor D Urnov, Gregory J Cost   +3 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

Molecular Therapy: Nucleic Acids, 2017
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the
Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel   +8 more
doaj   +1 more source

In silico analysis of OTC exon 4 splice sites (ss), including wild-type and mutant (c.386G>A) sequences and cryptic splice sites.

, 2015
Higher positive scores indicate a predicted better splice site. The 3’ and 5’ splice acceptor sites are shown, exonic sequences in upper case, intronic sequences in lower case.* not a cryptic splice site; sequence corresponding to that shown for the ...
Belén Pérez (2536582), Johannes Häberle (719209), Hiu Man Viecelli (719206), Magdalena Ugarte (719208), Rocío Sánchez-Alcudia (719205), Lourdes Ruiz Desviat (719210), Beat Thöny (347435), Veronique Rüfenacht (719207), Ana Rivera-Barahona (719204)   +8 more
core   +1 more source

Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]

, 2013
: BACKGROUND: Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced.
Srirangalingam, U, Navaratnam, N, Chew, SL, Norman, D, Khoo, B, Akker, SA   +5 more
core   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Precision base-editing of the cryptic 3’ acceptor site to correct the RNA splicing defect of β654-thalassemia

Molecular Biomedicine
β-Thalassemia is one of the most common inherited disorders worldwide and is caused by mutations affecting β-globin production. β654 mutation (IVS2-654, C > T) is one of the most frequently occurring β-thalassemia alleles in Han Chinese population, which
Dan Lu, Xiuli Gong, Xinbing Guo, Qin Cai, Wenxiu Li, Yanwen Chen, Dali Li, Fanyi Zeng   +7 more
doaj   +1 more source