- Home
- Publications
- Publication Search
- Publication Details
Title
BMS1 Is Mutated in Aplasia Cutis Congenita
Authors
Keywords
Fibroblasts, Cell cycle and cell division, Cell proliferation, Skin anatomy, Proteomics, Mutation, Scalp, Guanosine triphosphatase
Journal
PLoS Genetics
Volume 9, Issue 6, Pages e1003573
Publisher
Public Library of Science (PLoS)
Online
2013-06-14
DOI
10.1371/journal.pgen.1003573
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
- (2013) Alexander G. Marneros et al. AMERICAN JOURNAL OF HUMAN GENETICS
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- (2012) Susan J. Hassed et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ribosome Biogenesis and Control of Cell Proliferation: p53 Is Not Alone
- (2012) G. Donati et al. CANCER RESEARCH
- Ribosome Biogenesis Factor Bms1-like Is Essential for Liver Development in Zebrafish
- (2012) Yong Wang et al. Journal of Genetics and Genomics
- Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
- (2011) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
- (2011) Laura Southgate et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Defective ribosome assembly in Shwachman-Diamond syndrome
- (2011) C. C. Wong et al. BLOOD
- Ribosome defects in disorders of erythropoiesis
- (2011) Anupama Narla et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Aplasia cutis congenita and associated disorders: an update
- (2010) Mirjam E. J. W. Evers et al. CLINICAL GENETICS
- Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
- (2010) Johannes G Dauwerse et al. NATURE GENETICS
- The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis
- (2010) E. F. Freed et al. NUCLEIC ACIDS RESEARCH
- Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway
- (2010) C Deisenroth et al. ONCOGENE
- Lack of p21 expression links cell cycle control and appendage regeneration in mice
- (2010) K. Bedelbaeva et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA
- (2009) Yoshiko Maida et al. NATURE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now