Search Results - "OUSSOREN, E"
-
1
Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression
Published in Frontiers in bioengineering and biotechnology (06-12-2022)“…Mucopolysaccharidosis type VI (MPS VI) is a metabolic disorder caused by disease-associated variants in the Arylsulfatase B ( ) gene, resulting in ARSB enzyme…”
Get full text
Journal Article -
2
Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options
Published in Biochimica et biophysica acta (01-11-2011)“…The mucopolysaccharidoses (MPS) are prominent among the lysosomal storage diseases. The intra-lysosomal accumulation of glycosaminoglycans (GAGs) in this group…”
Get full text
Journal Article -
3
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
Published in Orphanet journal of rare diseases (26-04-2016)“…Mucopolysaccharidosis type II (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to skeletal abnormalities as well as…”
Get full text
Journal Article -
4
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
Published in Clinica chimica acta (01-09-2018)Get full text
Journal Article -
5
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
Published in Journal of inherited metabolic disease (01-09-2018)“…Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female…”
Get full text
Journal Article -
6
Genes differentially expressed in medulloblastoma and fetal brain
Published in Physiological genomics (31-08-1999)“…1 Department of Pediatric Oncology, Emma Kinderziekenhuis/Academic Medical Center 2 Neurozintuigen Laboratory 3 Department of Clinical Epidemiology, Academic…”
Get full text
Journal Article -
7
Mucin expression in colon adenocarcinoma cell lines
Published in Biochemical Society transactions (01-11-1995)Get more information
Journal Article -
8
OTX1 and OTX2 Expression Correlates With the Clinicopathologic Classification of Medulloblastomas
Published in Journal of neuropathology and experimental neurology (01-02-2006)“…OTX1 and OTX2 are transcription factors with an essential role in the development of the cerebellum. We previously described a high OTX2 expression in…”
Get full text
Journal Article -
9
0TX1 and 0TX2 Expression Correlates With the Clinicopathologic Classification of Medulloblastomas
Published in Journal of neuropathology and experimental neurology (01-02-2006)“…OTX1 and OTX2 are transcription factors with an essential role in the development of the cerebellum. We previously described a high OTX2 expression in…”
Get full text
Journal Article -
10
Diagnostic image (395). A girl with failure to thrive and abdominal distension
Published in Nederlands tijdschrift voor geneeskunde (08-11-2008)“…A 1.5-year-old girl presented with a failure to thrive caused by coeliac disease…”
Get more information
Journal Article -
11
The human intestinal cell lines Caco-2 and LS174T as models to study cell-type specific mucin expression
Published in Glycoconjugate journal (01-10-1996)“…Mucin expression was studied during proliferation and differentiation of the enterocyte-like Caco-2 and goblet cell-like LS174T cell lines. Caco-2 cells…”
Get full text
Journal Article -
12
Molecular Cloning of Human MUC3 cDNA Reveals a Novel 59 Amino Acid Tandem Repeat Region
Published in Biochemical and biophysical research communications (08-09-1997)“…The human MUC3 gene is highly expressed in small intestine and gallbladder. Thus far only 646 basepairs of its cDNA encoding 17 amino acid repeats have been…”
Get full text
Journal Article -
13
Influence of acetylsalicylic acid on development of radiation-induced nephropathy
Published in International journal of radiation biology (2000)“…Purpose : Previous studies have demonstrated that long-term treatment with acetylsalicylic acid (ASA) can significantly reduce the renal functional impairment…”
Get full text
Journal Article