Guilty as CHARGED: p53's expanding role in disease

Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide

(2014) Mahmoud R. Gaballa et al.   ANNALS OF HEMATOLOGY

Mdm2 is required for maintenance of the nephrogenic niche

(2014) Sylvia A. Hilliard et al.   DEVELOPMENTAL BIOLOGY

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

(2014) Ethan D. Sperry et al.   DEVELOPMENTAL DYNAMICS

p53 and ribosome biogenesis stress: The essentials

(2014) Lior Golomb et al.   FEBS LETTERS

Treacher Collins Syndrome: The genetics of a craniofacial disease

(2014) Sameep Kadakia et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Inappropriate p53 activation during development induces features of CHARGE syndrome

(2014) Jeanine L. Van Nostrand et al.   NATURE

p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

(2014) Cinzia Caprio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome

(2013) Shan Gao et al.   CURRENT ALLERGY AND ASTHMA REPORTS

The C terminus of p53 regulates gene expression by multiple mechanisms in a target- and tissue-specific manner in vivo

(2013) P.-J. Hamard et al.   GENES & DEVELOPMENT

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

(2013) Payal P. Khincha et al.   SEMINARS IN HEMATOLOGY

Mutant Mice Lacking the p53 C-Terminal Domain Model Telomere Syndromes

(2013) Iva Simeonova et al.   Cell Reports

Mutation update on the CHD7 gene involved in CHARGE syndrome

(2012) Nicole Janssen et al.   HUMAN MUTATION

Synergistic regulation of p53 by Mdm2 and Mdm4 is critical in cardiac endocardial cushion morphogenesis during heart development

(2012) Qin Zhang et al.   JOURNAL OF PATHOLOGY

Advances in carcinogenesis: A historical perspective from observational studies to tumor genome sequencing and TP53 mutation spectrum analysis

(2011) Thierry Soussi   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization

(2011) T. C. Pereboom et al.   BLOOD

Distinct p53 Transcriptional Programs Dictate Acute DNA-Damage Responses and Tumor Suppression

(2011) Colleen A. Brady et al.   CELL

p53 coordinates cranial neural crest cell growth and epithelial-mesenchymal transition/delamination processes

(2011) A. Rinon et al.   DEVELOPMENT

Mdm2–p53 signaling regulates epidermal stem cell senescence and premature aging phenotypes in mouse skin

(2011) Hugh S. Gannon et al.   DEVELOPMENTAL BIOLOGY

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome

(2011) Elizabeth A. Hurd et al.   HEARING RESEARCH

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

(2011) J. E. H. Bergman et al.   JOURNAL OF MEDICAL GENETICS

Pax3 Stimulates p53 Ubiquitination and Degradation Independent of Transcription

(2011) Xiao Dan Wang et al.   PLoS One

Full p53 transcriptional activation potential is dispensable for tumor suppression in diverse lineages

(2011) D. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome

(2010) A. Pellagatti et al.   BLOOD

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt et al.   BLOOD

Chromodomain proteins in development: lessons from CHARGE syndrome

(2010) WS Layman et al.   CLINICAL GENETICS

Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4

(2010) Sophie E Polo et al.   EMBO JOURNAL

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

(2010) T. Batsukh et al.   HUMAN MOLECULAR GENETICS

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

(2010) Gabriel E. Zentner et al.   HUMAN MOLECULAR GENETICS

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

p53 at a glance

(2010) C. A. Brady et al.   JOURNAL OF CELL SCIENCE

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Puma is required for p53-induced depletion of adult stem cells

(2010) Dongping Liu et al.   NATURE CELL BIOLOGY

The p53 orchestra: Mdm2 and Mdmx set the tone

(2010) Mark Wade et al.   TRENDS IN CELL BIOLOGY

Blinded by the Light: The Growing Complexity of p53

(2009) Karen H. Vousden et al.   CELL

Cytoplasmic functions of the tumour suppressor p53

(2009) Douglas R. Green et al.   NATURE

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

(2009) Masaaki Nishiyama et al.   NATURE CELL BIOLOGY

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans

(2009) H.-J. Kang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova et al.   BLOOD

Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest

(2008) Sarah C. Morgan et al.   MECHANISMS OF DEVELOPMENT

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE