The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

(2016) Daisuke Sakai et al.   Nature Communications

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

(2015) K. Nicole Weaver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

(2015) Isabelle Thiffault et al.   Nature Communications

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

(2014) Elise Schaefer et al.   GENETICS IN MEDICINE

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription

(2014) Cynthia L. Neben et al.   HUMAN MOLECULAR GENETICS

Facial dysostoses: Etiology, pathogenesis and management

(2013) Paul A. Trainor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders

(2013) Paul A. Trainor et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

RNA polymerase I structure and transcription regulation

(2013) Christoph Engel et al.   NATURE

Crystal structure of the 14-subunit RNA polymerase I

(2013) Carlos Fernández-Tornero et al.   NATURE

Mammalian Neurogenesis Requires Treacle-Plk1 for Precise Control of Spindle Orientation, Mitotic Progression, and Maintenance of Neural Progenitor Cells

(2012) Daisuke Sakai et al.   PLoS Genetics

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

(2011) P. Jaako et al.   BLOOD

Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning

(2011) Nadya Kondrashov et al.   CELL

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation

(2011) Alison M. Taylor et al.   EXPERIMENTAL HEMATOLOGY

Transcription by RNA polymerase III: more complex than we thought

(2011) Robert J. White   NATURE REVIEWS GENETICS

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention

(2010) Paul A. Trainor   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects

(2010) Nadia Danilova et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

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

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response

(2009) Anirban Chakraborty et al.   PLoS One

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Treacher Collins syndrome: etiology, pathogenesis and prevention

(2008) Paul A Trainor et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Natalie C Jones et al.   NATURE MEDICINE