Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4200
Abstract: ClC‐7 is a chloride‐proton antiporter of the CLC protein family. In complex with its accessory protein Ostm‐1, ClC‐7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying… read more here.
Keywords: pathobiologic mechanisms; clc; clc mutants; osteopetrosis ... See more keywords
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2494
Abstract: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by… read more here.
Keywords: osteopetrosis; multisystem disorder; variant; pathogenic variant ... See more keywords
Osteopetrosis misdiagnosed as congenital cytomegalovirus infection: A case report and literature review
Sign Up to like & getrecommendations! Published in 2025 at "Medicine"
DOI: 10.1097/md.0000000000045583
Abstract: Rationale: Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a rare autosomal recessive disease that is caused by defective function of osteoclasts or a reduced number of osteoclasts, resulting in extensive bone sclerosis. The morbidity and… read more here.
Keywords: osteopetrosis; disease; treatment; cytomegalovirus infection ... See more keywords
Infantile Osteopetrosis.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001108
Abstract: A 5-month-old baby girl presented to our hospital with frontal bossing, splenomegaly, leukocytosis, anemia, and thrombocytopenia. Her neonatal course was complicated by a seizure episode. Workup at that time revealed severe hypocalcemia, low vitamin D… read more here.
Keywords: appearance; bone; infantile osteopetrosis; osteopetrosis ... See more keywords
Haemodynamic stroke in a rare adult presentation of osteopetrosis
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DOI: 10.1136/bcr-2022-250355
Abstract: Osteopetrosis refers to a collection of metabolic bone diseases with impaired osteoclastic activity resulting in abnormally dense and dysplastic bone. Cranial involvement results in severe complications, including compressive nerve palsies, hydrocephalus and tonsillar herniation. Ischaemic… read more here.
Keywords: stroke rare; haemodynamic stroke; osteopetrosis; rare adult ... See more keywords
A Case of Osteopetrosis with Orbital Inflammation Secondary to Maxillary Osteomyelitis
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DOI: 10.1159/000536140
Abstract: Abstract Introduction: Osteopetrosis is a rare heritable disorder characterized by increased bone density resulting from osteoclast dysfunction. Major complications include bone fracture, osteomyelitis, anemia, and cranial nerve compression. Optic atrophy can occur due to compression… read more here.
Keywords: osteopetrosis; maxillary osteomyelitis; osteomyelitis; case ... See more keywords
Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series
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DOI: 10.1177/10935266251330174
Abstract: Osteopetrosis is a rare metabolic bone disease that can lead to progressive bone marrow failure if left untreated. Resulting cytopenia and extramedullary hematopoiesis are frequently encountered in autosomal recessive form of the disease (ARO) and… read more here.
Keywords: bone; osteopetrosis; marrow failure; bone marrow ... See more keywords
SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2
Sign Up to like & getrecommendations! Published in 2025 at "BMC Biology"
DOI: 10.1186/s12915-025-02193-z
Abstract: Heterozygous mutation of CLCN7 (R286W) is commonly found in patients with benign autosomal dominant osteopetrosis. However, there is no evidence from animal models to confirm that it is a disease mutation. And the characteristics of… read more here.
Keywords: osteopetrosis; dominant osteopetrosis; single cell; glycosylation ... See more keywords
Treatment for subtrochanteric fracture and subsequent nonunion in an adult patient with osteopetrosis: A case report and review of the literature.
Sign Up to like & getrecommendations! Published in 2021 at "World journal of clinical cases"
DOI: 10.12998/wjcc.v9.i35.11007
Abstract: BACKGROUND As a congenital metabolic bone disease caused by defective osteoclastic resorption of immature bone, osteopetrosis is characterized by diffused sclerosis of bones, brittle bones, easy fracturing, narrow medullary canals, and a weak fracture healing… read more here.
Keywords: patients osteopetrosis; patient osteopetrosis; treatment; fracture ... See more keywords
Osteoclast rich osteopetrosis due to defects in TCIRG1 gene.
Sign Up to like & getrecommendations! Published in 2022 at "Bone"
DOI: 10.2139/ssrn.4138979
Abstract: The discovery that mutations in TCIRG1 (also known as Atp6i) gene are responsible for the majority of autosomal recessive osteopetrosis (ARO) forms in humans heralded a new era for comprehension of this heterogeneous rare bone… read more here.
Keywords: tcirg1 gene; osteopetrosis; bone; gene ... See more keywords
CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
Sign Up to like & getrecommendations! Published in 2022 at "Bone"
DOI: 10.2139/ssrn.4207532
Abstract: After the discovery of abundant v-ATPase complexes in the osteoclast ruffled membrane it was obvious that in parallel a negative counter-ion needs to be transported across this membrane to allow for efficient transport of protons… read more here.
Keywords: clcn7; osteopetrosis; clc; autosomal dominant ... See more keywords