Cargando…

Translational Attenuation by an Intron Retention in the 5′ UTR of ENAM Causes Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a collection of rare genetic conditions affecting tooth enamel. The affected enamel can be of insufficient quantity and/or altered quality, impacting structural content, surface integrity and coloration. Heterozygous mutations in ENAM result in hypoplastic AI without...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Wright, John Timothy, Simmer, James P., Hu, Jan C.-C., Kim, Jung-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145330/ https://www.ncbi.nlm.nih.gov/pubmed/33922212 http://dx.doi.org/10.3390/biomedicines9050456

Ejemplares similares

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta
por: Zhang, Zhenwei, et al.
Publicado: (2023)

Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta
por: Lee, Yejin, et al.
Publicado: (2022)

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta
por: Kim, Youn Jung, et al.
Publicado: (2023)

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
por: Wang, Xin, et al.
Publicado: (2015)

A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
por: Kim, Youn Jung, et al.
Publicado: (2021)

Phenotype-Genotype Correlations in Mouse Models of Amelogenesis Imperfecta Caused by Amelx and Enam Mutations
por: Coxon, Thomas Liam, et al.
Publicado: (2012)

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta
por: Gutiérrez, Sandra, et al.
Publicado: (2012)

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
por: Hytönen, Marjo K., et al.
Publicado: (2019)

ENAM mutations and digenic inheritance
por: Zhang, Hong, et al.
Publicado: (2019)

Mutations in RELT cause autosomal recessive amelogenesis imperfecta
por: Kim, Jung‐Wook, et al.
Publicado: (2018)

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta
por: Kim, Youn Jung, et al.
Publicado: (2017)

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta
por: Kim, Youn Jung, et al.
Publicado: (2023)

Ultrastructure of early amelogenesis in wild‐type, Amelx (‐/‐), and Enam (‐/‐) mice: enamel ribbon initiation on dentin mineral and ribbon orientation by ameloblasts
por: Smith, Charles E., et al.
Publicado: (2016)

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta
por: Seymen, Figen, et al.
Publicado: (2021)

Amelogenesis imperfecta
por: Crawford, Peter JM, et al.
Publicado: (2007)

Identification of a Novel FAM83H Mutation and Management of Hypocalcified Amelogenesis Imperfecta in Early Childhood
por: Song, Ji-Soo, et al.
Publicado: (2022)

AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout‐NLS‐lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue‐specificity
por: Liang, Tian, et al.
Publicado: (2019)

Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6
por: Hu, Jan C.-C., et al.
Publicado: (2012)

Amelogenesis imperfecta and nephrocalcinosis syndrome
por: Chaitanya, V., et al.
Publicado: (2014)

Association of Amelogenesis Imperfecta and Bartter's Syndrome
por: Kumar, A. C. V., et al.
Publicado: (2017)

Amelogenesis imperfecta: Four case reports
por: Mehta, Dhaval N., et al.
Publicado: (2013)

Amelogenesis Imperfecta; Genes, Proteins, and Pathways
por: Smith, Claire E. L., et al.
Publicado: (2017)

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH)
por: Hočevar, Luka, et al.
Publicado: (2020)

Multiple Unerupted Teeth with Amelogenesis Imperfecta in Siblings
por: Hegde, Shruthi
Publicado: (2012)

Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene
por: Oliveira, Fernanda Veronese, et al.
Publicado: (2014)

Crown lengthening procedure in the management of amelogenesis imperfecta
por: Kalaivani, S., et al.
Publicado: (2015)

Clear Aligners in Patients with Amelogenesis and Dentinogenesis Imperfecta
por: Sawan, Nozha M.
Publicado: (2021)

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
por: Whitehouse, Laura L. E., et al.
Publicado: (2018)

Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta
por: Seymen, F, et al.
Publicado: (2015)

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta
por: Smith, C.E.L., et al.
Publicado: (2019)

Amelogenesis imperfecta: Report of a case and review of literature
por: Chaudhary, Mayur, et al.
Publicado: (2009)

Amelogenesis imperfecta: A challenge to restoring esthetics and function
por: Ranganath, V., et al.
Publicado: (2010)

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
por: Poulter, James A., et al.
Publicado: (2014)

Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report
por: Patel, Alok, et al.
Publicado: (2015)

Amelogenesis Imperfecta: Full Mouth Rehabilitation in Deciduous Dentition
por: Pinky,, et al.
Publicado: (2011)

Amelogenesis Imperfecta with Nephrocalcinosis: A Rare Association in Siblings
por: Reddy, Pramod, et al.
Publicado: (2019)

Restorative Treatment of Amelogenesis Imperfecta with Prefabricated Composite Veneers
por: Novelli, Claudio, et al.
Publicado: (2021)

Amelogenesis Imperfecta: A Case Series from the Community
por: Singh, Abanish, et al.
Publicado: (2018)

Management of Amelogenesis Imperfecta in Childhood: Two Case Reports
por: Möhn, Mirja, et al.
Publicado: (2021)

Intron Retention in the 5′UTR of the Novel ZIF2 Transporter Enhances Translation to Promote Zinc Tolerance in Arabidopsis
por: Remy, Estelle, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_0tksoomk4svk85eeru9ckrog0j