标题
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis
作者
关键词
-
出版物
JOURNAL OF DENTAL RESEARCH
Volume -, Issue -, Pages 002203451882457
出版商
SAGE Publications
发表日期
2019-02-20
DOI
10.1177/0022034518824571
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- New insights into the interplay between the translation machinery and nonsense-mediated mRNA decay factors
- (2018) Etienne Raimondeau et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations
- (2018) Nanyawan Rungroj et al. CLINICAL GENETICS
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways
- (2017) Claire E. L. Smith et al. Frontiers in Physiology
- Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool
- (2016) Julia Hentschel et al. GENE
- Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused byCLDN19gene mutations
- (2016) Paulo Marcio Yamaguti et al. JOURNAL OF MEDICAL GENETICS
- IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples
- (2016) Jennifer Hintzsche et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Inactivation of C4orf26 in toothless placental mammals
- (2016) Mark S. Springer et al. MOLECULAR PHYLOGENETICS AND EVOLUTION
- Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
- (2015) Claire Bardet et al. JOURNAL OF BONE AND MINERAL RESEARCH
- A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
- (2015) Megana K Prasad et al. JOURNAL OF MEDICAL GENETICS
- Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation
- (2015) Shih-Kai Wang et al. Molecular Genetics & Genomic Medicine
- NBCe1 (SLC4A4) a potential pH regulator in enamel organ cells during enamel development in the mouse
- (2014) R. Jalali et al. CELL AND TISSUE RESEARCH
- Ameloblast transcriptome changes from secretory to maturation stages
- (2014) James P. Simmer et al. CONNECTIVE TISSUE RESEARCH
- A case of Marshall's syndrome and review of the literature
- (2014) Ercan Çalışkan et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- The Molecular Basis of Hereditary Enamel Defects in Humans
- (2014) J.T. Wright et al. JOURNAL OF DENTAL RESEARCH
- WDR72 models of structure and function: A stage-specific regulator of enamel mineralization
- (2014) K.A. Katsura et al. MATRIX BIOLOGY
- Generalization of Associations of Kidney-Related Genetic Loci to American Indians
- (2013) N. Franceschini et al. Clinical Journal of the American Society of Nephrology
- Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
- (2013) Graciana Jaureguiberry et al. NEPHRON PHYSIOLOGY
- FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)
- (2013) Shih-Kai Wang et al. PLoS Genetics
- New Paradigms on the Transport Functions of Maturation-stage Ameloblasts
- (2012) R.S. Lacruz et al. JOURNAL OF DENTAL RESEARCH
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families
- (2011) J. Timothy Wright et al. CELLS TISSUES ORGANS
- Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function
- (2011) Marissa LeBlanc et al. JOURNAL OF PSYCHIATRIC RESEARCH
- Structure and function of WD40 domain proteins
- (2011) Chao Xu et al. Protein & Cell
- CONGENITAL, PERSISTENT PROXIMAL TYPE RENAL TUBULAR ACIDOSIS IN TWO BROTHERS1
- (2010) ARNT WINSNES et al. ACTA PAEDIATRICA
- Novel WDR72 Mutation and Cytoplasmic Localization
- (2010) S.-K. Lee et al. JOURNAL OF DENTAL RESEARCH
- Regulation of Dental Enamel Shape and Hardness
- (2010) J.P. Simmer et al. JOURNAL OF DENTAL RESEARCH
- New loci associated with kidney function and chronic kidney disease
- (2010) Anna Köttgen et al. NATURE GENETICS
- WD40 proteins propel cellular networks
- (2010) Christian U. Stirnimann et al. TRENDS IN BIOCHEMICAL SCIENCES
- Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
- (2009) Walid El-Sayed et al. AMERICAN JOURNAL OF HUMAN GENETICS
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started