Cargando…

Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Shih-Kai, Chan, Hui-Chen, Makovey, Igor, Simmer, James P., Hu, Jan C-C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515487/ https://www.ncbi.nlm.nih.gov/pubmed/23227268 http://dx.doi.org/10.1371/journal.pone.0051533

Ejemplares similares

DGI recommendations for COVID-19 pharmacotherapy
por: Malin, Jakob J., et al.
Publicado: (2020)

Tooth agenesis patterns and variants in PAX9: A systematic review
por: Intarak, Narin, et al.
Publicado: (2023)

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
por: Liu, Haochen, et al.
Publicado: (2022)

A review on non-syndromic tooth agenesis associated with PAX9 mutations
por: Fauzi, Nurul Hasyiqin, et al.
Publicado: (2018)

Kongress-Abstracts: Jahrestagung der DGPI/DGI
Publicado: (2016)

Consensus report of DGI/SEPA/Osteology Workshop
por: Sanz, Mariano, et al.
Publicado: (2022)

Association between Tooth Agenesis and Skeletal Malocclusions
por: Costa, Ana Maria Guerra, et al.
Publicado: (2017)

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
por: Andreoni, Francesca, et al.
Publicado: (2020)

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis
por: Chu, Kuan-Yu, et al.
Publicado: (2021)

Advances in tooth agenesis and tooth regeneration
por: Ravi, V., et al.
Publicado: (2023)

PAX9 Polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study
por: Isman, Eren, et al.
Publicado: (2013)

Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis
por: Murakami, Akiko, et al.
Publicado: (2017)

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review
por: Tallón-Walton, Victoria, et al.
Publicado: (2014)

Tooth Agenesis Patterns in Orofacial Clefting Using Tooth Agenesis Code: A Meta-Analysis
por: Howe, Brian J., et al.
Publicado: (2022)

Gallbladder Agenesis without Additional Biliary Tracts Abnormality
por: Meshkati Yazd, Seyed Mostafa, et al.
Publicado: (2022)

Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
por: Safari, Shiva, et al.
Publicado: (2020)

First Organoid Intelligence (OI) workshop to form an OI community
por: Morales Pantoja, Itzy E., et al.
Publicado: (2023)

Infektiologie in der stationären Versorgung in Deutschland: Positionspapier der Deutschen Gesellschaft für Infektiologie (DGI)
por: Fätkenheuer, Gerd, et al.
Publicado: (2023)

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)
por: Li, Shufeng, et al.
Publicado: (2008)

The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family
por: Khan, Sher Alam, et al.
Publicado: (2022)

A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family
por: Zhang, Hongyu, et al.
Publicado: (2021)

Tooth agenesis and orofacial clefting: genetic brothers in arms?
por: Phan, M., et al.
Publicado: (2016)

Colorectal cancer and self-reported tooth agenesis
por: Lindor, Noralane M, et al.
Publicado: (2014)

A study of prevalence and distribution of tooth agenesis
por: Bozga, A, et al.
Publicado: (2014)

The phenotypic characteristics of patients with athelia and tooth agenesis
por: Chen, Xiaoling, et al.
Publicado: (2021)

Effect of Tooth Agenesis on Mandibular Morphology and Position
por: Jurek, Agnieszka, et al.
Publicado: (2021)

Tooth agenesis: An overview of diagnosis, aetiology and management
por: Meade, Maurice J., et al.
Publicado: (2023)

Patterns of nonsyndromic tooth agenesis and sexual dimorphism
por: Kanchanasevee, Charinya, et al.
Publicado: (2023)

Georgina OíKeeffe
por: Robinson, Roxana
Publicado: (1989)

Impacted Primary Tooth and Tooth Agenesis: A Case Report of Monozygotic Twins
por: Zengin, A. Zeynep, et al.
Publicado: (2008)

Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human
por: Alur, Ramakrishna P., et al.
Publicado: (2010)

PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
por: Rasmussen, Maria, et al.
Publicado: (2020)

Genetics of tooth agenesis: how to move the field forward
por: VIEIRA, Alexandre R.
Publicado: (2013)

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis
por: Williams, Meredith A., et al.
Publicado: (2018)

Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis
por: Ouyang, Wanlu, et al.
Publicado: (2023)

FGFR1 variants contributed to families with tooth agenesis
por: Yao, Siyue, et al.
Publicado: (2023)

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese
por: Gao, Aibo, et al.
Publicado: (2020)

The regenerative potential of Pax3/Pax7 on skeletal muscle injury
por: Azhar, Muhamad, et al.
Publicado: (2022)

Frequency of missing teeth and reduction of mesiodistal tooth width in Japanese patients with tooth agenesis
por: Higashihori, Norihisa, et al.
Publicado: (2018)

Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis
por: Cardoso, Eudes-Freire, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_79hiesnlo6vjsana2nl2k3kqi1