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
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
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
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
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
Autosomal dominant osteopetrosis.
Sign Up to like & getrecommendations! Published in 2023 at "Bone"
DOI: 10.2139/ssrn.4290887
Abstract: Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior… read more here.
Keywords: osteopetrosis; disease; autosomal dominant; ado ... See more keywords
Autoimmune Cytopenias Post Hematopoietic Stem Cell Transplantation in Pediatric Patients With Osteopetrosis and Other Nonmalignant Diseases
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.879994
Abstract: Autoimmune cytopenia (AIC) is a rare complication post hematopoietic stem cell transplantation (HSCT), with a higher incidence in nonmalignant diseases. The etiology of post-HSCT AIC is poorly understood, and in many cases, the cytopenia is… read more here.
Keywords: nonmalignant diseases; osteopetrosis; post hsct; pediatric patients ... See more keywords
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2018.00213
Abstract: The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically… read more here.
Keywords: carbonic anhydrase; deficiency; osteopetrosis; obstructive sleep ... See more keywords
Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review
Sign Up to like & getrecommendations! Published in 2023 at "Current Issues in Molecular Biology"
DOI: 10.3390/cimb45020089
Abstract: Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in elevated bone densities. Patients with osteopetrosis possess several complications, like dental caries, earlier teeth loss, delayed eruption, malformed crowns and roots, and… read more here.
Keywords: osteopetrosis; osteopetrosis treatment; anhydrase activators; carbonic anhydrase ... See more keywords
Case Report of Clinical Vignette: Osteopetrosis.
Sign Up to like & getrecommendations! Published in 2017 at "Military medicine"
DOI: 10.7205/milmed-d-16-00234
Abstract: INTRODUCTION Osteopetrosis is a connective tissue disorder resulting from abnormally dense bone predisposing patients to fracture. The clinical pattern of fractures across time and space as well as suggestive radiographic findings usually raises diagnostic suspicion.… read more here.
Keywords: bone; case report; osteopetrosis; medicine ... See more keywords