The function of V-ATPases in cancer

L Stransky, K Cotter, M Forgac - Physiological reviews, 2016 - journals.physiology.org
The vacuolar ATPases (V-ATPases) are a family of proton pumps that couple ATP hydrolysis
to proton transport into intracellular compartments and across the plasma membrane. They …

How we approach malignant infantile osteopetrosis

E Even‐Or, P Stepensky - Pediatric Blood & Cancer, 2021 - Wiley Online Library
Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder characterized by
excessive bone overgrowth due to a defect in bone marrow resorption by osteoclasts. In …

Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene

V Capo, M Abinun, A Villa - Bone, 2022 - Elsevier
Discovery that mutations in TCIRG1 (also known as Atp6i) gene are responsible for most
instances of autosomal recessive osteopetrosis (ARO) heralded a new era for …

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

A Howaldt, S Nampoothiri, LM Quell, A Ozden… - Bone, 2019 - Elsevier
The osteopetroses and related sclerosing bone dysplasias can have a broad range of
manifestations. Especially in the milder forms, sandwich vertebrae are an easily …

[HTML][HTML] Differential proteomic analysis of tibial subchondral bone from male and female guinea pigs with spontaneous osteoarthritis

Y Wang, C Wu, J Tao, D Zhao… - Experimental and …, 2021 - spandidos-publications.com
A proteomic study on the tibial subchondral bone in guinea pigs with spontaneous
osteoarthritis was performed to investigate the molecular alterations that occur in early …

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

H Liang, N Li, R Yao, T Yu, L Ding… - Molecular Genetics & …, 2021 - Wiley Online Library
Background Osteopetrosis is characterized by increased bone density and bone marrow
cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their …

A review of the clinical, radiological and biochemical characteristics and genetic causes of high bone mass disorders

X Chen, H Yu, X Yu - Current Drug Targets, 2018 - ingentaconnect.com
Background: High bone mass (HBM) disorders are a group of clinically and genetically
heterogeneous bone diseases characterized by increased bone density on radiographs …

[HTML][HTML] Identificación de nuevas mutaciones en TCIRG1 como causa de osteopetrosis maligna infantil en dos pacientes mexicanos

C Hernández-Martínez, MN Guzmán-Martínez… - Revista Alergia …, 2018 - scielo.org.mx
Antecedentes: La osteopetrosis es un grupo heterogéneo de enfermedades que se
caracterizan por aumento de la densidad ósea debido a anomalías en la diferenciación o …

[PDF][PDF] Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients.

C Hernández-Martínez… - Revista Alergia de …, 2018 - pdfs.semanticscholar.org
Antecedentes: La osteopetrosis es un grupo heterogéneo de enfermedades que se
caracterizan por aumento de la densidad ósea debido a anomalías en la diferenciación o …

[引用][C] 石骨症相关基因检测与产前诊断的研究进展

曾艳, 张建军, 张霖 - 中国优生与遗传杂志, 2016