Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

(2019) Christelle Arrondel et al.   Nature Communications

Integrator subunit 4 is a ‘Symplekin-like’ scaffold that associates with INTS9/11 to form the Integrator cleavage module

(2018) Todd R Albrecht et al.   NUCLEIC ACIDS RESEARCH

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

(2018) Daniela A. Braun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cyclin D1 overexpression induces global transcriptional downregulation in lymphoid neoplasms

(2018) Robert Albero et al.   JOURNAL OF CLINICAL INVESTIGATION

WDR73-related galloway mowat syndrome with collapsing glomerulopathy

(2018) Mariem El Younsi et al.   European Journal of Medical Genetics

Small Nucleolar RNAs Tell a Different Tale

(2018) Joanna Kufel et al.   TRENDS IN GENETICS

Integrator orchestrates RAS/ERK1/2 signaling transcriptional programs

(2017) Jingyin Yue et al.   GENES & DEVELOPMENT

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

(2017) Daniela A Braun et al.   NATURE GENETICS

Molecular basis for the interaction between Integrator subunits IntS9 and IntS11 and its functional importance

(2017) Yixuan Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human mutations in integrator complex subunits link transcriptome integrity to brain development

(2017) Renske Oegema et al.   PLoS Genetics

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

(2016) Rasim O. Rosti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cell cycle re-entry sensitizes podocytes to injury induced death

(2016) Manuel Hagen et al.   CELL CYCLE

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

(2015) Robert N. Jinks et al.   BRAIN

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

(2015) Julia Vodopiutz et al.   HUMAN MUTATION

Nonsense mutation in theWDR73gene is associated with Galloway-Mowat syndrome

(2015) Tawfeg Ben-Omran et al.   JOURNAL OF MEDICAL GENETICS

Integrator: surprisingly diverse functions in gene expression

(2015) David Baillat et al.   TRENDS IN BIOCHEMICAL SCIENCES

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EGF Receptor Deletion in Podocytes Attenuates Diabetic Nephropathy

(2014) J. Chen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Integrator Regulates Transcriptional Initiation and Pause Release following Activation

(2014) Alessandro Gardini et al.   MOLECULAR CELL

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

New Insights into the Pathology of Podocyte Loss

(2013) Helen Liapis et al.   AMERICAN JOURNAL OF PATHOLOGY

New Roles of Cyclin D1

(2013) Richard G. Pestell   AMERICAN JOURNAL OF PATHOLOGY

The neurologic findings in Taybi-Linder syndrome (MOPD I/III): Case report and review of the literature

(2012) Melinda J. Pierce et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Podocyte Mitosis - A Catastrophe

(2012) L. Lasagni et al.   CURRENT MOLECULAR MEDICINE

snRNA 3' End Formation Requires Heterodimeric Association of Integrator Subunits

(2012) T. R. Albrecht et al.   MOLECULAR AND CELLULAR BIOLOGY

The super elongation complex (SEC) family in transcriptional control

(2012) Zhuojuan Luo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Proteomic analysis of the slit diaphragm complex: CLIC5 is a protein critical for podocyte morphology and function

(2010) Brian A. Pierchala et al.   KIDNEY INTERNATIONAL

Linking actin dynamics and gene transcription to drive cellular motile functions

(2010) Eric N. Olson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature

(2010) Marianna Pezzella et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Eukaryotic snoRNAs: A paradigm for gene expression flexibility

(2009) Giorgio Dieci et al.   GENOMICS