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About 1,439 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  713 results

Large transient capacitive currents in wild-type lysosomal Cl-/H+ antiporter ClC-7 and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681918
The Journal of General Physiology; Pusch M, Zifarelli G

Nov 19th, 2020 - ClC-7 is a lysosomal 2 Cl-/1 H+ antiporter of the CLC protein family, which comprises Cl- channels and other Cl-/H+ antiporters. Mutations in ClC-7 and its associated β subunit Ostm1 lead to osteopetrosis and lysosomal storage disease in humans an...

Total Hip Arthroplasty in Patients With Osteopetrosis.
https://doi.org/10.1016/j.arth.2020.10.018
The Journal of Arthroplasty; Siljander MP, Trousdale RT et. al.

Nov 9th, 2020 - Osteopetrosis is an inherited bone disease associated with high risk of osteoarthritis and fracture non-union, which can lead to total hip arthroplasty (THA). Bone quality and morphology are altered in these patients, and there are limited data on...

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural ...
https://doi.org/10.1002/jbmr.4200
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research; Di Zanni E, Palagano E et. al.

Oct 30th, 2020 - 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 the resorption lacuna ...

Pleomorphic Sarcoma in a Patient with Osteopetrosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536008
Journal of Radiology Case Reports; McGill K, Motamedi D et. al.

Oct 22nd, 2020 - Osteopetrosis comprises a rare, heterogeneous group of heritable conditions that are characterized by a defect in bone resorption by osteoclasts. We report the case of a 53-year-old woman with previously undiagnosed osteopetrosis who presented wit...

Screening for COVID-19 in Symptomatic Cancer Patients in a Cancer Hospital.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549584
Cancer Cell; Chorin O, Yachelevich N et. al.

Oct 16th, 2020 - Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA-based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of the...

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Drugs  2 results see all →

Clinicaltrials.gov  721 results

Large transient capacitive currents in wild-type lysosomal Cl-/H+ antiporter ClC-7 and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681918
The Journal of General Physiology; Pusch M, Zifarelli G

Nov 19th, 2020 - ClC-7 is a lysosomal 2 Cl-/1 H+ antiporter of the CLC protein family, which comprises Cl- channels and other Cl-/H+ antiporters. Mutations in ClC-7 and its associated β subunit Ostm1 lead to osteopetrosis and lysosomal storage disease in humans an...

Total Hip Arthroplasty in Patients With Osteopetrosis.
https://doi.org/10.1016/j.arth.2020.10.018
The Journal of Arthroplasty; Siljander MP, Trousdale RT et. al.

Nov 9th, 2020 - Osteopetrosis is an inherited bone disease associated with high risk of osteoarthritis and fracture non-union, which can lead to total hip arthroplasty (THA). Bone quality and morphology are altered in these patients, and there are limited data on...

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural ...
https://doi.org/10.1002/jbmr.4200
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research; Di Zanni E, Palagano E et. al.

Oct 30th, 2020 - 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 the resorption lacuna ...

Pleomorphic Sarcoma in a Patient with Osteopetrosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536008
Journal of Radiology Case Reports; McGill K, Motamedi D et. al.

Oct 22nd, 2020 - Osteopetrosis comprises a rare, heterogeneous group of heritable conditions that are characterized by a defect in bone resorption by osteoclasts. We report the case of a 53-year-old woman with previously undiagnosed osteopetrosis who presented wit...

Screening for COVID-19 in Symptomatic Cancer Patients in a Cancer Hospital.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549584
Cancer Cell; Chorin O, Yachelevich N et. al.

Oct 16th, 2020 - Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA-based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of the...

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News  3 results

A 49-Year-Old Man With Pain at the Site of a Previous Fracture
https://reference.medscape.com/viewarticle/857143_5

Jan 13th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...

HLA-matched sibling transplants provide best outcomes in infantile osteopetrosis
https://www.mdedge.com/rheumatology/article/101309/transfusion-medicine/hla-matched-sibling-transplants-provide-best
Lucas Franki

Jul 18th, 2015 - Long-term survival after hematopoietic stem cell transplantation for infantile osteopetrosis was highest when grafts were taken from human leukocyte antigen (HLA)-matched siblings, according to the largest cohort of patients with the disease that.

Pyle-type Metaphyseal Dysplasia
https://www.medscape.com/viewarticle/709818_3

Diagnosis Pyle-type metaphyseal dysplasia (or Pyle's disease) Differential diagnosis: Chronic anemia (e.g. Sickle-cell disease), osteopetrosis, Gaucher disease and Niemann-Pick disease.

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