Detalles de la búsqueda
1.
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
Clin Genet
; 103(1): 45-52, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36175384
2.
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Brain
; 145(10): 3711-3722, 2022 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35325049
3.
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.
Hum Mol Genet
; 29(5): 803-816, 2020 03 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31943020
4.
Impaired proteoglycan glycosylation, elevated TGF-ß signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
PLoS Genet
; 14(3): e1007242, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29561836
5.
Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis.
Int J Mol Sci
; 22(17)2021 Aug 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34502207
6.
Skeletal Dysplasias Caused by Sulfation Defects.
Int J Mol Sci
; 21(8)2020 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-32295296
7.
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.
Hum Mol Genet
; 24(19): 5570-80, 2015 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26206888
8.
Analysis of Aggrecan Glycanation by Western Blot in Cell Culture.
Methods Mol Biol
; 2619: 141-151, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36662468
9.
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Bone
; 175: 116838, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37454964
10.
The Mediating Role of Temperamental Traits on the Relationship between Age of Puberty and Eating Disorders: A Mediating Analysis through Structural Equation Modelling of Australian Eating Disorder Outpatients.
J Genet Psychol
; 182(6): 391-405, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34151736
11.
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.
Biochem Pharmacol
; 185: 114452, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33545117
12.
Analysis of Proteoglycan Synthesis and Secretion in Cell Culture Systems.
Methods Mol Biol
; 1952: 71-80, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30825166
13.
Binge eating in patients with polycystic ovary syndrome: prevalence, causes, and management strategies.
Neuropsychiatr Dis Treat
; 15: 1273-1285, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31190833
14.
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
FEBS J
; 286(15): 3008-3032, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31286677
15.
Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice.
PLoS One
; 14(3): e0213660, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30865697
16.
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Matrix Biol
; 81: 70-90, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30439444
17.
The Overlap Between Binge Eating Behaviors and Polycystic Ovarian Syndrome: An Etiological Integrative Model.
Curr Pharm Des
; 24(9): 999-1006, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29205115
18.
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
J Bone Miner Res
; 33(12): 2186-2201, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30075049
19.
Does patient reluctance towards exposure and psychologists' attitudes about evidence based practice influence treatment recommendations for panic disorder? An experimental investigation.
J Anxiety Disord
; 51: 55-64, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28325630
20.
Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a Potential Tool for Off-Label Use of N-Acetylcysteine in the Treatment of Diastrophic Dysplasia.
J Pharm Sci
; 106(12): 3631-3641, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28826881