Cargando…

Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells

BACKGROUND: Autosomal dominant osteopetrosis type II (ADO2) is a rare human genetic disease that has been broadly studied as an important osteopetrosis model; however, there are no disease-specific induced pluripotent stem cells (ADO2-iPSCs) that may be valuable for understanding the pathogenesis an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ou, Minglin, Li, Chunhong, Tang, Donge, Xue, Wen, Xu, Yong, Zhu, Peng, Li, Bo, Xie, Jiansheng, Chen, Jiejing, Sui, Weiguo, Yin, Lianghong, Dai, Yong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693165/ https://www.ncbi.nlm.nih.gov/pubmed/31412925 http://dx.doi.org/10.1186/s13287-019-1369-8

Ejemplares similares

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

Comparative proteomic analysis of membranous nephropathy biopsy tissues using quantitative proteomics
por: SUI, WEIGUO, et al.
Publicado: (2015)

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

Characteristic analysis of TCR β-chain CDR3 repertoire for pre- and post-liver transplantation
por: Yang, Guiqi, et al.
Publicado: (2018)

Correction: Characteristic analysis of TCR β-chain CDR3 repertoire for preand post-liver transplantation
por: Yang, Guiqi, et al.
Publicado: (2020)

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

Differential expression profile study and gene function analysis of maternal foetal-derived circRNA for screening for Down's syndrome
por: Sui, Weiguo, et al.
Publicado: (2020)

Proteomic analysis of differentially expressed proteins in the serum of patients with acute renal allograft rejection using iTRAQ labelling technology
por: Zhang, Yue, et al.
Publicado: (2020)

Comparative proteomic analysis of human serum before and after liver transplantation using quantitative proteomics
por: Zhang, Ruohan, et al.
Publicado: (2019)

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

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

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

microRNA expression profile of peripheral blood mononuclear cells of Klinefelter syndrome
por: SUI, WEIGUO, et al.
Publicado: (2012)

Single-cell sequencing reveals the potential oncogenic expression atlas of human iPSC-derived cardiomyocytes
por: Ou, Minglin, et al.
Publicado: (2021)

Qualitative Proteome-wide Lysine Crotonylation Profiling Reveals Protein Modification Alteration in the Leukocyte Extravasation Pathway in Systemic Lupus Erythematosus
por: Zeng, Huiyi, et al.
Publicado: (2023)

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

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

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

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

Quantitative analysis of protein crotonylation identifies its association with immunoglobulin A nephropathy
por: Lin, Hua, et al.
Publicado: (2020)

HBV integrated genomic characterization revealed hepatocyte genomic alterations in HBV-related hepatocellular carcinomas
por: Yang, Ming, et al.
Publicado: (2020)

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)

Comparison of immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) assessment for Her-2 status in breast cancer
por: Sui, Weiguo, et al.
Publicado: (2009)

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)

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

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

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

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

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)

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

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

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

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

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)

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)

Comprehensive analysis of lysine crotonylation in proteome of maintenance hemodialysis patients
por: Chen, Wenbiao, et al.
Publicado: (2018)

Integrated microRNA and protein expression analysis reveals novel microRNA regulation of targets in fetal down syndrome
por: Lin, Hua, et al.
Publicado: (2016)

Proteomics analysis of lysine crotonylation and 2-hydroxyisobutyrylation reveals significant features of systemic lupus erythematosus
por: Xie, Ting, 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)

Cannot write session to /tmp/vufind_sessions/sess_97a91ddou32avq7lob7kvds9pe