Cargando…

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary teeth. Some of the mutations identified in au...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kadota, Tamami, Ochiai, Marin, Okawa, Rena, Nakano, Kazuhiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777029/ https://www.ncbi.nlm.nih.gov/pubmed/36553293 http://dx.doi.org/10.3390/children9121850

Ejemplares similares

Dental manifestation and management of hypophosphatasia()
por: Okawa, Rena, et al.
Publicado: (2022)

Distribution of Helicobacter pylori and Periodontopathic Bacterial Species in the Oral Cavity
por: Kadota, Tamami, et al.
Publicado: (2020)

Contribution of Streptococcus mutans to Helicobacter pylori colonisation in oral cavity and gastric tissue
por: Nomura, Ryota, et al.
Publicado: (2020)

A novel missense mutation in the ALPL gene causes dysfunction of the protein
por: Chen, Bin, et al.
Publicado: (2017)

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review
por: Mao, Xiaojian, et al.
Publicado: (2019)

Two sisters in the same dress: Heliconius cryptic species
por: Giraldo, Nathalia, et al.
Publicado: (2008)

Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
por: Bhadada, Sanjay K., et al.
Publicado: (2020)

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene
por: García-Fontana, Cristina, et al.
Publicado: (2019)

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
por: Güzel Nur, Banu, et al.
Publicado: (2016)

Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
por: Xu, Lijun, et al.
Publicado: (2018)

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations
por: Santurtún, Maite, et al.
Publicado: (2022)

Six ALPL gene variants in five children with hypophosphatasia
por: Su, Na, et al.
Publicado: (2021)

Dental effects of enzyme replacement therapy in case of childhood-type hypophosphatasia
por: Okawa, Rena, et al.
Publicado: (2021)

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
por: Zhang, Qiang, et al.
Publicado: (2021)

Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes
por: Shen, Hongwei, et al.
Publicado: (2019)

A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature
por: Oyachi, Maki, et al.
Publicado: (2018)

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures
por: Peris, Pilar, et al.
Publicado: (2018)

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family
por: Huang, Huajie, et al.
Publicado: (2020)

Estimation of dental age based on the developmental stages of permanent teeth in Japanese children and adolescents
por: Kuremoto, Katsuaki, et al.
Publicado: (2022)

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
por: Sanabria-de la Torre, Raquel, et al.
Publicado: (2022)

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report
por: Alkwatli, Kenda, et al.
Publicado: (2023)

Loss‐of‐Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase
por: Alonso, Nerea, et al.
Publicado: (2020)

A heterozygous mutation in the ALPL gene in an adolescent with Chiari malformation type I accompanied by scoliosis, tethered cord and diastematomyelia
por: Xu, Liqing, et al.
Publicado: (2023)

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
por: Tornero, C., et al.
Publicado: (2020)

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
por: Jandl, Nico Maximilian, et al.
Publicado: (2020)

ALPL-1 is a target for chimeric antigen receptor therapy in osteosarcoma
por: Mensali, Nadia, et al.
Publicado: (2023)

Osteoarticular Manifestations of Prolidase Deficiency and Disability: Case Reports of Two Moroccan Sisters
por: Asly, Mouna, et al.
Publicado: (2021)

Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL)
por: Tilden, Daniel R, et al.
Publicado: (2020)

Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
por: Bisgin, Atil, et al.
Publicado: (2020)

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types
por: Okawa, Rena, et al.
Publicado: (2019)

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
por: Karagüzel, Gülay, et al.
Publicado: (2022)

Sisters Acts: Converging Signaling Between CaMKII and CaMKIV, Two Members of the Same Family
por: Rusciano, M.R., et al.
Publicado: (2012)

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia
por: Tornero, C., et al.
Publicado: (2022)

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations
por: Kitoh, Hiroshi, et al.
Publicado: (2022)

Same family, same mutation, different ECG
por: Akbuğa, Kürşat, et al.
Publicado: (2022)

Relationship between Dental Occlusion and Maximum Tongue Pressure in Preschool Children Aged 4–6 Years
por: Sasaki, Yumi, et al.
Publicado: (2022)

Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes
por: Chinello, Matteo, et al.
Publicado: (2019)

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma
por: Olde Loohuis, Loes M., et al.
Publicado: (2018)

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface
por: Martins, Luciane, et al.
Publicado: (2022)

Two sisters ; a memoir in the form of a novel.
por: Vidal, Gore, 1925-2012
Publicado: (1970)

Cannot write session to /tmp/vufind_sessions/sess_n4h4qqbts5fk7lulmfid7jvcks