Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk

(2023) Bianca E. Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

(2022) Zain Awamleh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Vangl2 Promotes Hematopoietic Stem Cell Expansion

(2022) Sarah Bouali et al.   Frontiers in Cell and Developmental Biology

Asxl1 C-terminal mutation perturbs neutrophil differentiation in zebrafish

(2021) Xiao Fang et al.   LEUKEMIA

Vangl2 promotes the formation of long cytonemes to enable distant Wnt/β-catenin signaling

(2021) Lucy Brunt et al.   Nature Communications

BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion

(2021) Vicente Perez-Garcia et al.   eLife

Wnt10b promotes hair follicles growth and dermal papilla cells proliferation via Wnt/β-Catenin signaling pathway in Rex rabbits

(2020) Zhenyu Wu et al.   BIOSCIENCE REPORTS

Characterization of the plant homeodomain (PHD) reader family for their histone tail interactions

(2020) Kanishk Jain et al.   Epigenetics & Chromatin

Regulation of Wnt Signaling through Ubiquitination and Deubiquitination in Cancers

(2020) Hong-Beom Park et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

WNT Signaling in Melanoma

(2020) Anna Gajos-Michniewicz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking

(2020) Ahmed A. Z. Dawoud et al.   LEUKEMIA

An Adversarial DNA N6-Methyladenine-Sensor Network Preserves Polycomb Silencing

(2019) Soo-Mi Kweon et al.   MOLECULAR CELL

Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development

(2019) Friederike Matheus et al.   Stem Cell Reports

Improved CUT&RUN chromatin profiling tools

(2019) Michael P Meers et al.   eLife

Expression of mutant Asxl1 perturbs hematopoiesis and promotes susceptibility to leukemic transformation

(2018) Reina Nagase et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Targeted in situ genome-wide profiling with high efficiency for low cell numbers

(2018) Peter J Skene et al.   Nature Protocols

Targeting Wnt/β-Catenin Signaling for Cancer Immunotherapy

(2018) Bojun Wang et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Mutant ASXL1 cooperates with BAP1 to promote myeloid leukaemogenesis

(2018) Shuhei Asada et al.   Nature Communications

Mtf2-PRC2 control of canonical Wnt signaling is required for definitive erythropoiesis

(2018) Janet L. Manias Rothberg et al.   Cell Discovery

Aberrant histone modifications induced by mutant ASXL1 in myeloid neoplasms

(2018) Shuhei Asada et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

ASXL2mutations are frequently found in pediatric AML patients with t(8;21)/RUNX1-RUNX1T1and associated with a better prognosis

(2017) Genki Yamato et al.   GENES CHROMOSOMES & CANCER

An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues

(2017) M Ryan Corces et al.   NATURE METHODS

Histone H2A Monoubiquitination in Neurodevelopmental Disorders

(2017) Anshika Srivastava et al.   TRENDS IN GENETICS

Non-canonical WNT/PCP signalling in cancer: Fzd6 takes centre stage

(2017) G Corda et al.   Oncogenesis

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

(2016) Vandana Shashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA methylation and chromatin accessibility profiling of mouse and human fetal germ cells

(2016) Hongshan Guo et al.   CELL RESEARCH

Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels

(2016) Daichi Inoue et al.   EXPERIMENTAL HEMATOLOGY

The microtubule-associated protein PRC1 promotes early recurrence of hepatocellular carcinoma in association with the Wnt/β-catenin signalling pathway

(2016) Jianxiang Chen et al.   GUT

BAP1/ASXL1 recruitment and activation for H2A deubiquitination

(2016) Danny D. Sahtoe et al.   Nature Communications

The Role of Additional Sex Combs-Like Proteins in Cancer

(2016) Jean-Baptiste Micol et al.   Cold Spring Harbor Perspectives in Medicine

Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

(2015) Bianca Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine

(2015) Masaru Katoh   Expert Review of Proteomics

De novodominantASXL3mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

(2015) Anshika Srivastava et al.   HUMAN MOLECULAR GENETICS

The stability of epigenetic factor ASXL1 is regulated through ubiquitination and USP7-mediated deubiquitination

(2015) D Inoue et al.   LEUKEMIA

Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex

(2015) Anand Balasubramani et al.   Nature Communications

Planar polarization of Vangl2 in the vertebrate neural plate is controlled by Wnt and Myosin II signaling

(2015) O. Ossipova et al.   Biology Open

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

(2014) Martin J. Aryee et al.   BIOINFORMATICS

Additional sex combs-likefamily genes are required for normal cardiovascular development

(2014) Andrea L. McGinley et al.   GENESIS

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Frizzled3 is required for the development of multiple axon tracts in the mouse central nervous system

(2014) Z. L. Hua et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The planar cell polarity protein Vangl2 bidirectionally regulates dendritic branching in cultured hippocampal neurons

(2014) Akari Hagiwara et al.   Molecular Brain

Vangl2-Regulated Polarisation of Second Heart Field-Derived Cells Is Required for Outflow Tract Lengthening during Cardiac Development

(2014) Simon A. Ramsbottom et al.   PLoS Genetics

Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice

(2013) J. Wang et al.   BLOOD

Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations

(2013) Daichi Inoue et al.   JOURNAL OF CLINICAL INVESTIGATION

Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

(2013) Omar Abdel-Wahab et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Wnt Stabilization of  -Catenin Reveals Principles for Morphogen Receptor-Scaffold Assemblies

(2013) S.-E. Kim et al.   SCIENCE

Expanding our knowledge of conditions associated with the ASXL gene family

(2013) Bianca Russell et al.   Genome Medicine

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

Frizzled3 controls axonal development in distinct populations of cranial and spinal motor neurons

(2013) Zhong L Hua et al.   eLife

Wnt signaling in bone formation and its therapeutic potential for bone diseases

(2013) Jeong Hwan Kim et al.   Therapeutic Advances in Musculoskeletal Disease

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

The HARE-HTH and associated domains

(2012) L. Aravind et al.   CELL CYCLE

Stimulation of Histone Deacetylase Activity by Metabolites of Intermediary Metabolism

(2012) Maria Vogelauer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases

(2012) Véronique Gelsi-Boyer et al.   Journal of Hematology & Oncology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Alternative Wnt Pathways and Receptors

(2012) R. van Amerongen   Cold Spring Harbor Perspectives in Biology

Tcf7 Is an Important Regulator of the Switch of Self-Renewal and Differentiation in a Multipotential Hematopoietic Cell Line

(2012) Jia Qian Wu et al.   PLoS Genetics

Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value

(2011) M. Pratcorona et al.   HAEMATOLOGICA

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

An Updated Overview on Wnt Signaling Pathways

(2010) Tata Purushothama Rao et al.   CIRCULATION RESEARCH

Canonical and noncanonical Wnts use a common mechanism to activate completely unrelated coreceptors

(2010) L. Grumolato et al.   GENES & DEVELOPMENT

The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation

(2010) Laura L. Yates et al.   HUMAN MOLECULAR GENETICS

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

VANGL2Mutations in Human Cranial Neural-Tube Defects

(2010) Yun-Ping Lei et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex

(2010) J. D. Pereira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Wnt7a Activates the Planar Cell Polarity Pathway to Drive the Symmetric Expansion of Satellite Stem Cells

(2009) Fabien Le Grand et al.   Cell Stem Cell

Towards an integrated view of Wnt signaling in development

(2009) R. van Amerongen et al.   DEVELOPMENT

Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice

(2009) C.L. Fisher et al.   DEVELOPMENTAL BIOLOGY

Proximal events in Wnt signal transduction

(2009) Stephane Angers et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

GSK3: a multifaceted kinase in Wnt signaling

(2009) Dianqing Wu et al.   TRENDS IN BIOCHEMICAL SCIENCES

A comprehensive functional analysis of tissue specificity of human gene expression

(2008) Zoltan Dezso et al.   BMC BIOLOGY

Canonical Wnt pathway signaling suppresses VCAM-1 expression by marrow stromal and hematopoietic cells

(2008) Sachin Malhotra et al.   EXPERIMENTAL HEMATOLOGY

Alternative Wnt Signaling Is Initiated by Distinct Receptors

(2008) R. van Amerongen et al.   Science Signaling