Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

(2013) P. Stepensky et al.   BLOOD

The Spectrum ofELANEMutations and their Implications in Severe Congenital and Cyclic Neutropenia

(2013) Manuela Germeshausen et al.   HUMAN MUTATION

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting

(2012) C. Fritsch et al.   GENOME RESEARCH

Genetics and Pathophysiology of Severe Congenital Neutropenia Syndromes Unrelated to Neutrophil Elastase

(2012) Kaan Boztug et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

ELANE Mutations in Cyclic and Severe Congenital Neutropenia

(2012) Marshall S. Horwitz et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane

(2011) S. Nanua et al.   BLOOD

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

(2011) Andreas Wolf et al.   HUMAN MUTATION

Transient Myeloproliferative Disorder and GATA1 Mutation in Neonates With and Without Down Syndrome

(2011) Ming-Horng Tsai et al.   INDIAN JOURNAL OF PEDIATRICS

Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia

(2011) Bhuvana A. Setty et al.   PEDIATRIC BLOOD & CANCER

Alternative Ways to Think about Cellular Internal Ribosome Entry

(2010) Wendy V. Gilbert   JOURNAL OF BIOLOGICAL CHEMISTRY

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

(2010) S. El Chehadeh et al.   JOURNAL OF MEDICAL GENETICS

Alternative translation start sites are conserved in eukaryotic genomes

(2010) G. A. Bazykin et al.   NUCLEIC ACIDS RESEARCH

Wolcott-Rallison syndrome

(2010) Cécile Julier et al.   Orphanet Journal of Rare Diseases

Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases

(2010) B. Korkmaz et al.   PHARMACOLOGICAL REVIEWS

Neutrophil elastase–processing defect in cyclic hematopoietic dogs

(2009) Ronghua Meng et al.   EXPERIMENTAL HEMATOLOGY

Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase

(2009) S. J. Salipante et al.   MOLECULAR AND CELLULAR BIOLOGY

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Alternative translation start sites and hidden coding potential of eukaryotic mRNAs

(2008) Alex V. Kochetov   BIOESSAYS