Cargando…

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7

Type II autosomal dominant osteopetrosis (ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Xiang, Zhang, Kun, Hock, Janet, Wang, Chunyu, Yu, Xijie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126728/ https://www.ncbi.nlm.nih.gov/pubmed/27990310 http://dx.doi.org/10.1038/boneres.2016.35

Ejemplares similares

Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
por: Kim, Seon Young, et al.
Publicado: (2018)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
por: Piret, Sian E., et al.
Publicado: (2016)

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
por: Kang, Sol, et al.
Publicado: (2019)

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
por: Deng, Hao, et al.
Publicado: (2016)

Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2
por: Capulli, Mattia, et al.
Publicado: (2015)

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
por: Okamoto, Nana, et al.
Publicado: (2017)

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
por: Rashid, Ban Mousa, et al.
Publicado: (2013)

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
por: Song, Xiu-Li, et al.
Publicado: (2022)

Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications
por: Maurizi, Antonio, et al.
Publicado: (2019)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
por: Hofstaetter, Jochen G., et al.
Publicado: (2022)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
por: Chorin, Odelia, et al.
Publicado: (2020)

Enhanced Activation of Rac1/Cdc42 and MITF Leads to Augmented Osteoclastogenesis in Autosomal Dominant Osteopetrosis Type II
por: Jung, Youn‐Kwan, et al.
Publicado: (2018)

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
por: Bug, Dmitrii S., et al.
Publicado: (2020)

Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty
por: van Hove, Ruud P., et al.
Publicado: (2014)

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report
por: Kant, Priyanka, et al.
Publicado: (2013)

Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis
por: da Silva Barbirato, Davi, et al.
Publicado: (2017)

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study
por: Wang, Ziyuan, et al.
Publicado: (2022)

Autosomal recessive osteopetrosis: mechanisms and treatments
por: Penna, Sara, et al.
Publicado: (2021)

Intramedullary nailing for subtrochanteric fracture in autosomal dominant Type II osteopetrosis: Case report of 2 patients
por: Kim, Junyoung, et al.
Publicado: (2020)

Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells
por: Li, Chunhong, et al.
Publicado: (2021)

Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report
por: Gong, Hong-Ping, et al.
Publicado: (2023)

Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis
por: Yuan, Ying, et al.
Publicado: (2019)

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I
por: Pangrazio, Alessandra, et al.
Publicado: (2011)

Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures
por: Ishaque, Ali, et al.
Publicado: (2022)

Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells
por: Ou, Minglin, et al.
Publicado: (2019)

SUN-532 Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis
por: Imel, Erik, et al.
Publicado: (2019)

Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report
por: Wei, Congcong, et al.
Publicado: (2023)

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
por: Mistri, Mehul, et al.
Publicado: (2014)

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature
por: Gao, Xiaoming, et al.
Publicado: (2020)

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
por: Liang, Huanhuan, et al.
Publicado: (2021)

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
por: Musa, Nurul Huda, et al.
Publicado: (2023)

Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
por: Morovvati, Saeid, et al.
Publicado: (2012)

Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis
por: Palagano, Eleonora, et al.
Publicado: (2020)

A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
por: Chakravarty, Kamalesh, et al.
Publicado: (2021)

Maintaining osteoclastogenesis following allogeneic hematopoietic stem cell transplantation for osteopetrosis: evidence from in vitro testing
por: Savaşan, Süreyya, et al.
Publicado: (2022)

Novel hybrid silicon-lipid nanoparticles deliver a siRNA to cure autosomal dominant osteopetrosis in mice. Implications for gene therapy in humans
por: Maurizi, Antonio, et al.
Publicado: (2023)

Phospholipase C-β1 Hypofunction in the Pathogenesis of Schizophrenia
por: Kim, Seong-Wook, et al.
Publicado: (2015)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
por: Miryounesi, Mohammad, et al.
Publicado: (2016)

Osteopetrosis
por: Stark, Zornitza, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_cogkoq8uujhgmt7hq747t9gukf