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HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update
Ilenia Boria et al.
HUMAN MUTATION (2010)
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane
Ken-ichiro Watanabe et al.
APOPTOSIS (2009)
Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA
Virginia B. Mattis et al.
BMC NEUROSCIENCE (2009)
Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene
Marina Lanciotti et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
Jun Xia et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
The FANC pathway and mitosis A replication legacy
Valeria Naim et al.
CELL CYCLE (2009)
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
Virginia B. Mattis et al.
HUMAN MOLECULAR GENETICS (2009)
Identification of Mutations in the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Genes in Czech Patients With Diamond-Blackfan Anemia
Radek Cmejla et al.
HUMAN MUTATION (2009)
Poly-L-aspartic Acid Enhances and Prolongs Gentamicin-mediated Suppression of the CFTR-G542X Mutation in a Cystic Fibrosis Mouse Model
Ming Du et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations
Igor Nudelman et al.
JOURNAL OF MEDICINAL CHEMISTRY (2009)
Ela2 Mutations and Clinical Manifestations in Familial Congenital Neutropenia
Masaaki Shiohara et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2009)
Fanconi anemia and its diagnosis
Arleen D. Auerbach
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)
A Syndrome with Congenital Neutropenia and Mutations in G6PC3
Kaan Boztug et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Nonsense suppression activity of PTC124 (ataluren)
Stuart W. Peltz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Hanna T. Gazda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia
Jason E. Farrar et al.
BLOOD (2008)
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
Manuela Germeshausen et al.
BLOOD (2008)
Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
Philip S. Rosenberg et al.
HAEMATOLOGICA (2008)
A New Database for Ribosomal Protein Genes Which Are Mutated in Diamond-Blackfan Anemia
Ilenia Boria et al.
HUMAN MUTATION (2008)
RPS19 mutations in patients with Diamond-Blackfan anemia
Maria Francesca Campagnoli et al.
HUMAN MUTATION (2008)
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
Eitan Kerem et al.
LANCET (2008)
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
N. Ishikawa et al.
JOURNAL OF MEDICAL GENETICS (2008)
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Weidong Wang
NATURE REVIEWS GENETICS (2007)
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small riblosomal subunit production
Rachel A. Idol et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Bing Xia et al.
NATURE GENETICS (2007)
Impaired ribosome biogenesis in Diamond-Blackfan anemia
Valerie Choesmel et al.
BLOOD (2007)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Christoph Klein et al.
NATURE GENETICS (2007)
Neutrophil elastase in cyclic and severe congenital neutropenia
Marshall S. Horwitz et al.
BLOOD (2007)
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
E Maserati et al.
GENES CHROMOSOMES & CANCER (2006)
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
E Callén et al.
BLOOD (2005)
Molecular insights into aminoglycoside action and resistance
S Magnet et al.
CHEMICAL REVIEWS (2005)
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
HT Gazda et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Mutations in the ELA2 gene correlate with more severe expression of neutropenia:: a study of 81 patients from the French Neutropenia Register
C Bellanné-Chantelot et al.
BLOOD (2004)
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease
F Usuki et al.
ANNALS OF NEUROLOGY (2004)
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia
A Chatr-aryamontri et al.
HUMAN MUTATION (2004)
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
RE Person et al.
NATURE GENETICS (2003)
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
PA Hernandez et al.
NATURE GENETICS (2003)
Severe chronic neutropenia: Treatment and follow-up of patients in the severe chronic neutropenia international registry
DC Dale et al.
AMERICAN JOURNAL OF HEMATOLOGY (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Pyranmycins, a novel class of aminoglycosides with improved acid stability: The SAR of D-pyranoses on ring III of pyranmycin
CWT Chang et al.
ORGANIC LETTERS (2002)
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
Y Dror et al.
EXPERIMENTAL HEMATOLOGY (2002)
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
KM Keeling et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2002)
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway
Y Dror et al.
BLOOD (2001)
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
S Goobie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K Devriendt et al.
NATURE GENETICS (2001)
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
KM Keeling et al.
HUMAN MOLECULAR GENETICS (2001)
Evidence that phosphorylation of human Upf1 protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway
M Pal et al.
RNA (2001)
Aminoglycosides: Perspectives on mechanisms of action and resistance and strategies to counter resistance
LP Kotra et al.
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY (2000)
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population
U Ramenghi et al.
BLOOD CELLS MOLECULES AND DISEASES (2000)
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
M Manuvakhova et al.
RNA (2000)
Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes
M Buvoli et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders
E Maserati et al.
CANCER GENETICS AND CYTOGENETICS (2000)