Cargando…

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Smith, Claire E. L., Poulter, James A., Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J., Inglehearn, Chris F., Mighell, Alan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Physiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483479/ https://www.ncbi.nlm.nih.gov/pubmed/28694781 http://dx.doi.org/10.3389/fphys.2017.00435

Ejemplares similares

Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta
por: Smith, Claire E.L., et al.
Publicado: (2016)

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

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
por: Smith, Claire EL, et al.
Publicado: (2017)

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
por: Poulter, James A., et al.
Publicado: (2014)

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress
por: Brookes, Steven J., et al.
Publicado: (2017)

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

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
por: Poulter, James A, et al.
Publicado: (2014)

New missense variants in RELT causing hypomineralised amelogenesis imperfecta
por: Nikolopoulos, Georgios, et al.
Publicado: (2020)

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta
por: Smith, Claire E L, et al.
Publicado: (2020)

The Unfolded Protein Response in Amelogenesis and Enamel Pathologies
por: Brookes, Steven J., et al.
Publicado: (2017)

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
por: El-Sayed, Walid, et al.
Publicado: (2009)

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

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities
por: Smith, Claire E. L., et al.
Publicado: (2017)

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
por: Parry, David A., et al.
Publicado: (2016)

Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate
por: Brookes, Steven J., et al.
Publicado: (2014)

Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth
por: El-Sayed, W., et al.
Publicado: (2011)

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

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification
por: Bloch-Zupan, Agnes, et al.
Publicado: (2023)

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

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
por: Parry, David A., et al.
Publicado: (2009)

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

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

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

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

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta
por: Barron, Martin J., et al.
Publicado: (2010)

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

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)

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

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta
por: Gasse, Barbara, et al.
Publicado: (2017)

Adenovirus Gene Transfer to Amelogenesis Imperfecta Ameloblast-Like Cells
por: Borovjagin, Anton V., et al.
Publicado: (2011)

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta
por: Hirji, Nashila, et al.
Publicado: (2018)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_0haqf70g35hm5l2597n67agn4i