Cargando…

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kang, Sol, Kang, Young Kyung, Lee, Jun Ah, Kim, Dong Ho, Lim, Jung Sub
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878338/ https://www.ncbi.nlm.nih.gov/pubmed/30759959 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0229

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)

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

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

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

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)

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7
por: Chen, Xiang, et al.
Publicado: (2016)

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)

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

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 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)

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)

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

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

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

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)

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

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

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)

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)

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

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)

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

RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations
por: Pangrazio, Alessandra, et al.
Publicado: (2012)

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)

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

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)

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
por: Scholl, Ute I., et al.
Publicado: (2018)

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)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
por: Orsini, Chiara, et al.
Publicado: (2020)

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis
por: Bonapace, Giuseppe, et al.
Publicado: (2014)

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)

Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
por: Han, Miyeun, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_mes7lh036bvf7v84hjd6u0e9uo