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ProteomicsLC-MS/MS-based 4D Label-Free Proteomics Analysis of Bone Marrow Cells from ADO2 Mice
This project focuses on the global proteomic profiling of bone marrow cells (BMCs) in the ADO2 mouse model using LC-MS/MS-based 4D Label-Free Proteomics Analysis. The study aims to identify differentially expressed proteins and elucidate potential molecular mechanisms underlying osteopetrosis pathog...
ORGANISM(S): Rattus Rattus 
2025-02-05 | PXD060536 |
ProteomicsLC-MS/MS-based 4D Label-Free N-Glycosylation Proteomics Analysis of Bone Marrow Cells from ADO2 Mouse
This project aims to investigate N-linked glycosylation modifications in bone marrow cells (BMCs) of an autosomal dominant osteopetrosis type 2 (ADO2) mouse model carrying the Clcn7 (r284w) mutation. Using LC-MS/MS-based 4D Label-Free N-Glycosylation Proteomics Analysis, we identified significant al...
ORGANISM(S): Mus Musculus 
2025-02-05 | PXD060501 |
ProteomicsGenotyping, generation and lysine 2-hydroxyisobutyrylation identification 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...
ORGANISM(S): Homo sapiens (Human) 
2022-02-15 | PXD014227 | Pride
Osteopetrosis Whole exome sequencing Ipscs 2-hydroxyisobutyrylation Clcn7 
TranscriptomicsComparison expression data from wild-type and NFATc1-deficient osteoclasts
Genetic deletion of Nfatc1 in mice results in profound osteoclast-poor osteopetrosis, a high bone mass state caused by a lack of osteoclast activity. We hypothesized that the family of NFATc1 regulated transcripts in the osteoclast would be enriched for genes associated with osteoclast function. We...
ORGANISM(S): Mus musculus 
2012-08-18 | E-GEOD-37219 | biostudies-arrayexpress
UnknownMalignant infantile osteopetrosis.
Not available
S-EPMC3722638 | biostudies-literature
GenomicsAutosomal Dominant Osteopetrosis: A Natural History Study
Autosomal Dominant Osteopetrosis: A Natural History Study
PRJNA1377642 | ENA
GenomicsAutosomal Dominant Osteopetrosis: A Natural History Study
Autosomal Dominant Osteopetrosis: A Natural History Study
PRJNA1377641 | ENA
UnknownMolecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.
Not available
S-EPMC10299715 | biostudies-literature
UnknownSuccessful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis
Not available
S-EPMC9178469 | biostudies-literature
UnknownGenetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
Not available
S-EPMC8576874 | biostudies-literature
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