Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

ASXL1mutations are frequent and prognostically detrimental inCSF3R-mutated chronic neutrophilic leukemia

(2015) Michelle A. Elliott et al.   AMERICAN JOURNAL OF HEMATOLOGY

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation inSETBP1and literature review of the clinical features

(2015) Ellaine Carvalho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Síndrome Schinzel-Giedion: nueva mutación en SETBP1

(2015) V. López-González et al.   ANALES DE PEDIATRIA

De novo CSF3R mutation associated with transformation of myeloproliferative neoplasm to atypical CML

(2015) S. Bartels et al.   ANNALS OF HEMATOLOGY

The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I

(2015) J. E. Maxson et al.   CLINICAL CANCER RESEARCH

Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation

(2015) Akihito Takeuchi et al.   European Journal of Medical Genetics

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

(2015) Yvan Herenger et al.   European Journal of Medical Genetics

Monogenic and chromosomal causes of isolated speech and language impairment

(2015) C P Barnett et al.   JOURNAL OF MEDICAL GENETICS

Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

(2015) Thomas McKerrell et al.   Cell Reports

CALRmutation studies in chronic neutrophilic leukemia

(2014) Terra L. Lasho et al.   AMERICAN JOURNAL OF HEMATOLOGY

Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib

(2014) Emanuele Ammatuna et al.   ANNALS OF HEMATOLOGY

Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

(2014) C. B. Gambacorti-Passerini et al.   BLOOD

SETting OP449 into the PP2A-Activating Drug Family

(2014) P. Neviani et al.   CLINICAL CANCER RESEARCH

SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms

(2014) E. Fabiani et al.   HAEMATOLOGICA

West Syndrome in a Patient With Schinzel-Giedion Syndrome

(2014) Fuyu Miyake et al.   JOURNAL OF CHILD NEUROLOGY

CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia

(2014) Yajuan Cui et al.   Journal of Hematology & Oncology

SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS

(2014) D Inoue et al.   LEUKEMIA

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

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

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

Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers

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

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

De novo TBR1 mutations in sporadic autism disrupt protein functions

(2014) Pelagia Deriziotis et al.   Nature Communications

Clinical implications of theSETBP1mutation in patients with primary myelodysplastic syndrome and its stability during disease progression

(2013) Hsin-An Hou et al.   AMERICAN JOURNAL OF HEMATOLOGY

SETBP1mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia

(2013) Norio Shiba et al.   BRITISH JOURNAL OF HAEMATOLOGY

Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

(2013) Jung Min Ko et al.   CHILDS NERVOUS SYSTEM

Protein phosphatase 2A: a target for anticancer therapy

(2013) Danilo Perrotti et al.   LANCET ONCOLOGY

CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia

(2013) A Pardanani et al.   LEUKEMIA

SETBP1 mutation analysis in 944 patients with MDS and AML

(2013) F Thol et al.   LEUKEMIA

SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias

(2013) F Damm et al.   LEUKEMIA

SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML

(2013) R R Laborde et al.   LEUKEMIA

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations

(2013) M Meggendorfer et al.   LEUKEMIA

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10

(2012) K. Oakley et al.   BLOOD

Unusual neuroradiological features in Schinzel–Giedion syndrome

(2012) Jodi Marianne Lestner et al.   CLINICAL DYSMORPHOLOGY

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A graphical interface for the FoldX forcefield

(2011) J. Van Durme et al.   BIOINFORMATICS

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

(2011) K Suphapeetiporn et al.   CLINICAL GENETICS

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

The Association of minor congenital anomalies and childhood cancer

(2011) Asude Durmaz et al.   PEDIATRIC BLOOD & CANCER

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia

(2009) I. Cristobal et al.   BLOOD

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

(2008) Anna M. Lehman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cancer Risk in Children with Birth Defects and in Their Families: A Population Based Cohort Study of 5.2 Million Children from Norway and Sweden

(2008) T. Bjorge et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Clinical and radiological findings in Schinzel–Giedion syndrome

(2008) Mudaffer AL-Mudaffer et al.   EUROPEAN JOURNAL OF PEDIATRICS

Diversity of degradation signals in the ubiquitin–proteasome system

(2008) Tommer Ravid et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY