Cargando…

Mutation in Phex Gene Predisposes BALB/c-Phex(Hyp-Duk)/Y Mice to Otitis Media

Genetic susceptibility underlying otitis media (OM) remains to be understood. We show in this study that mutation in Phex gene predisposes the BALB/c-Phex(Hyp-Duk)/Y (abbreviated Hyp-Duk/Y) mice to OM, which occurs at post-natal day 21 (P21) with an average penetrance of 73%. The OM was identified b...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Fengchan, Yu, Heping, Li, Ping, Zhang, Jiangping, Tian, Cong, Li, Hongbo, Zheng, Qing Yin
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/PMC3461009/ https://www.ncbi.nlm.nih.gov/pubmed/23028440 http://dx.doi.org/10.1371/journal.pone.0043010

Ejemplares similares

Fix That PHEX Loss
por: Sunny, Sonie Sarah
Publicado: (2021)

PHEX Mimetic (SPR4-Peptide) Corrects and Improves HYP and Wild Type Mice Energy-Metabolism
por: Zelenchuk, Lesya V., et al.
Publicado: (2014)

PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease
por: El Hakam, Carole, et al.
Publicado: (2022)

Correction: PHEX Mimetic (SPR4-Peptide) Corrects and Improves HYP and Wild Type Mice Energy-Metabolism
Publicado: (2014)

Phenotypes of a family with XLH with a novel PHEX mutation
por: Yamamoto, Akiko, et al.
Publicado: (2020)

A novel PHEX mutation associated with vitamin D-resistant rickets
por: Sako, Saori, et al.
Publicado: (2019)

X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan
por: Zehra, Nawazish, et al.
Publicado: (2021)

PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
por: Song, Hae-Ryong, et al.
Publicado: (2007)

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
por: Kawahara, Tetsuya, et al.
Publicado: (2015)

A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
por: Kang, Yea Eun, et al.
Publicado: (2014)

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
por: Chesher, Douglas, et al.
Publicado: (2018)

Calcium-dependent activation of PHEX, MEPE and DMP1 in osteocytes
por: Donmez, Baris Ozgur, et al.
Publicado: (2022)

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
por: Li, Shan-Shan, et al.
Publicado: (2016)

Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
por: Yue, Hua, et al.
Publicado: (2014)

Downregulation of PHEX in multibacillary leprosy patients: observational cross-sectional study
por: Silva, Sandra R. Boiça, et al.
Publicado: (2015)

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
por: Jap, Tjin-Shing, et al.
Publicado: (2011)

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets
por: Ma, Sara L., et al.
Publicado: (2015)

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
por: Yang, Misun, et al.
Publicado: (2018)

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
por: Forero-Delgadillo, Jessica María, et al.
Publicado: (2020)

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
por: Acar, Sezer, et al.
Publicado: (2018)

SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation
por: Badran, Ahmed, et al.
Publicado: (2020)

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
por: Yang, Yanting, et al.
Publicado: (2022)

Coexistent CYP24A1 and PHEX Gene Mutations With Hypervitaminosis D Plus Hypercalcemia Treated With Fluconazole
por: Bawden, David, et al.
Publicado: (2021)

A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
por: Kayser, Michelle, et al.
Publicado: (2023)

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
por: Cheon, Chong Kun, et al.
Publicado: (2014)

MON-373 Low Bone Mineral Density Does Not Equal Osteoporosis: The Finding of XLHR with a Novel Phex Mutation
por: Tran, Kelvin, et al.
Publicado: (2020)

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
por: Terracciano, Alessandra, et al.
Publicado: (2023)

Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports
por: Gao, Yue, et al.
Publicado: (2018)

The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
por: Chen, Xiang, et al.
Publicado: (2019)

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family
por: Li, Baowei, et al.
Publicado: (2020)

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
por: Tavana, Nahid, et al.
Publicado: (2022)

Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
por: Liao, Hong, et al.
Publicado: (2018)

Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets
por: Huang, Jianbo, et al.
Publicado: (2019)

Dedicated to the Late Professor Jae-Duk Lew
por: Tark, Kwan Chul, et al.
Publicado: (2023)

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
por: Jeong, In Hwa, et al.
Publicado: (2021)

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
por: Sarafrazi, Soodabeh, et al.
Publicado: (2021)

Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene
por: Tian, Cong, et al.
Publicado: (2012)

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription
por: Gan, Yu-mian, et al.
Publicado: (2022)

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
por: Jo, Ha Young, et al.
Publicado: (2020)

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
por: Pecoraro, Carmine, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2qhaalbhiucs6i8algrak8mo3a