Publications
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Background: Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by non-functional osteoclasts and a fatal outcome early in childhood. About 50% of patients have mutations in the TCIRG1 gene. Methods: IMO iPSCs were generated from a patient carrying a homozygous ...
May 15, 2020
Journal:
Stem Cells Res Ther
Author:
Xian X, Moraghebi R, Löfvall H, Fasth A, Henriksen K, Richter J, Woods NB, Moscatelli I
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorpt...
November 5, 2013
Journal:
Bone
Author:
Moscatelli I, Thudium CS, Flores C, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J, Schulz AS
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorpt...
July 29, 2013
Journal:
Bone
Author:
Moscatelli I, Thudium CS, Flores C, Askmyr M, Gudmann KN, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J, Schulz AS
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