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A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

artículo científico publicado en 2017

An overview of pre-ribosomal RNA processing in eukaryotes

artículo científico publicado en 2014

Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.

artículo científico publicado en 2010

Cell-cycle-dependent three-dimensional redistribution of nuclear proteins, P 120, pKi-67, and SC 35 splicing factor, in the presence of the topoisomerase I inhibitor camptothecin.

artículo científico publicado en 2003

Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.

artículo científico publicado en 2017

Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2

scientific journal article

Electron tomography of amplified nanogold immunolabelling: Improvement of quality based on alignment of projections with sinograms and use of post-reconstruction deconvolution.

artículo científico publicado en 2006

Electron tomography of metaphase nucleolar organizer regions: evidence for a twisted-loop organization.

artículo científico publicado en 1997

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

artículo científico publicado en 2012

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

artículo científico publicado en 2014

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA

scientific journal article

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

artículo científico publicado en 2019

Localization of Nopp140 within mammalian cells during interphase and mitosis.

artículo científico publicado en 2009

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

scientific article published on 01 February 2019

Maturation of pre-40S particles in yeast and humans

scientific article published on 08 November 2018

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.

artículo científico publicado en 2017

Nucleolar sub-compartments in motion during rRNA synthesis inhibition: Contraction of nucleolar condensed chromatin and gathering of fibrillar centers are concomitant

artículo científico publicado en 2017

Overexpression of Bcl-2 is associated with apoptotic resistance to the G-quadruplex ligand 12459 but is not sufficient to confer resistance to long-term senescence

artículo científico publicado en 2005

Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.

artículo científico publicado en 2017

Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

artículo científico publicado en 2018

Proliferation assessment in breast cancer: a double-staining technique for AgNOR quantification in MIB-1 positive cells especially adapted for image cytometry

scientific article published on 01 April 2000

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

artículo científico publicado en 2018

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

artículo científico publicado en 2019

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

artículo científico publicado en 2018

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

article

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

artículo científico publicado en 2008

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

artículo científico publicado en 2020

Structural and functional organization of ribosomal genes within the mammalian cell nucleolus.

artículo científico publicado en 2005

Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing

artículo científico publicado en 2016

Telomestatin-induced telomere uncapping is modulated by POT1 through G-overhang extension in HT1080 human tumor cells.

artículo científico publicado en 2006

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The NEDD8 inhibitor MLN4924 increases the size of the nucleolus and activates p53 through the ribosomal-Mdm2 pathway.

artículo científico publicado en 2015

The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA

artículo científico publicado en 2020

Three-dimensional Organization of pKi-67: A Comparative Fluorescence and Electron Tomography Study Using Fluoronanogold

artículo científico publicado el 1 de noviembre de 2003

Three-dimensional reconstruction of nucleolar components by electron microscope tomography.

artículo científico publicado en 2008

Visualizing macromolecules with fluoronanogold: from photon microscopy to electron tomography

artículo científico publicado en 2007