Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

(2021) Mathieu Quinodoz et al.   Nature Communications

Inherited skin disorders presenting with poikiloderma

(2021) Tuntas Rayinda et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration

(2020) Yonis Bare et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

(2019) Virginie G. Peter et al.   OPHTHALMIC GENETICS

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

(2019) Virginie G. Peter et al.   GENETICS IN MEDICINE

Conformational proofreading of distant 40S ribosomal subunit maturation events by a long-range communication mechanism

(2019) Valentin Mitterer et al.   Nature Communications

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

(2019) Antonio Rueda Martin et al.   NATURE GENETICS

Visualizing late states of human 40S ribosomal subunit maturation

(2018) Michael Ameismeier et al.   NATURE

Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head

(2018) Jason C. Collins et al.   JOURNAL OF CELL BIOLOGY

Mouse Genome Database (MGD) 2019

(2018) Carol J Bult et al.   NUCLEIC ACIDS RESEARCH

Genetic dissection of early endosomal recycling highlights a TORC1-independent role for Rag GTPases

(2017) Chris MacDonald et al.   JOURNAL OF CELL BIOLOGY

Sequential domain assembly of ribosomal protein S3 drives 40S subunit maturation

(2016) Valentin Mitterer et al.   Nature Communications

DrosophilaLow Temperature Viability Protein 1 (LTV1) Is Required for Ribosome Biogenesis and Cell Growth Downstream ofDrosophilaMyc (dMyc)

(2015) Wonho Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hrr25/CK1δ-directed release of Ltv1 from pre-40S ribosomes is necessary for ribosome assembly and cell growth

(2015) Homa Ghalei et al.   JOURNAL OF CELL BIOLOGY

Structure of the human 80S ribosome

(2015) Heena Khatter et al.   NATURE

Genetic Analysis of the Ribosome Biogenesis Factor Ltv1 of Saccharomyces cerevisiae

(2014) J. R. Merwin et al.   GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

H/ACA Small RNA Dysfunctions in Disease Reveal Key Roles for Noncoding RNA Modifications in Hematopoietic Stem Cell Differentiation

(2013) Cristian Bellodi et al.   Cell Reports

One core, two shells: bacterial and eukaryotic ribosomes

(2012) Sergey Melnikov et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Structure of the Eukaryotic Ribosome at 3.0 A Resolution

(2011) A. Ben-Shem et al.   SCIENCE

Dominant Mutations in the Late 40S Biogenesis Factor Ltv1 Affect Cytoplasmic Maturation of the Small Ribosomal Subunit in Saccharomyces cerevisiae

(2010) C. A. Fassio et al.   GENETICS

Maturation of eukaryotic ribosomes: acquisition of functionality

(2010) Vikram Govind Panse et al.   TRENDS IN BIOCHEMICAL SCIENCES