Results 21 to 30 of about 10,613 (196)

Infantile or Malignant Osteopetrosis: Case Report of Two Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2013
Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months ...
Tarakeswara Rao P., Sunita V., Gandhi T.P, Sri Harsha   +3 more
doaj   +1 more source

A positive correlation between osteopetrosis and genetic disorder of CA II, TCIRG1, SNX10, CLCN7 genes and importance of CRISPR (Cas 9) in gene therapy: A review [PDF]

Egyptian Journal of Cancer and Biomedical Research
Osteopetrosis can be defined as a group of uncommon skeletal disorders that are genetically and clinically eterogeneous, often stemming from family history. In osteopetrosis, abnormal osteoclast function disrupts bone homeostasis.
Zainab Zamil Allami, Hawraa Humedii, Maytham Dragh, Firas Alkhalidi   +3 more
doaj   +1 more source

A case of infantile osteopetrosis: The radioclinical features with literature update

Bone Reports, 2016
Background: Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling.
Tamer Ahmed EL-Sobky, Ezzat Elsobky, Ismaiel Sadek, Solaf M. Elsayed, Mohamed Fawzy Khattab   +4 more
doaj   +1 more source

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis

Вавиловский журнал генетики и селекции, 2023
Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity.
D. D. Nadyrshina, R. I. Khusainova
doaj   +1 more source

CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs

Frontiers in Bioscience-Landmark, 2023
Background: Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes have been identified to be related with osteopetrosis, the pathogenesis of
Dandan Li, Minglin Ou, Wei Zhang, Qi Luo, Wanxia Cai, Chune Mo, Wenken Liang, Guandong Dai, Lianghong Yin, Peng Zhu, Donge Tang, Yong Dai   +11 more
doaj   +1 more source

Osteopetrosis of the jaws

, 2004
Osteopetrosis is a rare hereditary condition characterized by increased bone density. The jaws, bones, and teeth invariably are affected and the osteopetrosis is directly proportional with the severity of the disease.
Coletta, Ricardo D., Pereira Filho, Valfrido Antonio, Chaves, Marcelo D., Gabrieli, Marisa A. C., Gabrieli, Mario F. R., Vargas, Pablo A., Vieira, Eduardo Hochuli   +6 more
core   +3 more sources

A rare case report of intermediate osteopetrosis and review of literature

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Osteopetrosis also known as "marble bone disease" is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity.
Priyanka Verma, Sonali Kadam, Hemant Rangnath Umarji, Varun Surya   +3 more
doaj   +1 more source

Machine drill bit for surgical management of shaft of femur fracture in osteopetrosis - A case report of rare disease

Journal of Orthopaedic Reports, 2022
Background: Osteopetrosis is a collection of illnesses with increased bone density on plain radiographs that are clinically and genetically heterogeneous.
Vikas Maheshwari, Varun Garg, Saurabh Sinha, Aditya K.S. Gowda, Vivek Singh   +4 more
doaj   +1 more source

Clinicoradiological Findings of Benign Osteopetrosis: Report of Two New Cases

Journal of Dental Research, Dental Clinics, Dental Prospects, 2012
Osteopetrosis represents a heterogeneous group of rare, hereditary bone dysplasias that share the hallmark of increased bone density caused by osteoclast dysfunction. It can manifest through a spectrum of symptoms and severity, from neonatal onset with
Elahe Tohidi, Ali Bagherpour
doaj   +1 more source

Experimental therapies for osteopetrosis

, 2022
The medical treatment of osteopetrosis is an ongoing clinical problem. There are no effective and safer thera-peutic approaches for all its forms. However, recent discoveries concerning the etiology and the pathogenesis of osteopetrosis, the development ...
Maurizi A.
core   +1 more source