Results 41 to 50 of about 4,684 (195)

A single nucleotide variant on chromosome 16 residing within GALNS distinguishes patients with luminal A breast cancer.

, 2022
Molecular subtypes including the most common subtype luminal A drive patient outcomes in human breast cancer but the biological basis for this is not completely understood (1-4).
Shahan Mamoor
core   +1 more source

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. [PDF]

PLoS ONE, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-
Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs   +6 more
doaj   +1 more source

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Molecular Genetics and Metabolism Reports, 2022
Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced N-acetylgalactosamine-6-sulfatase activity as well as detection of compound heterozygous or homozygous pathogenic variants in GALNS.
Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood   +4 more
openaire   +3 more sources

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio A Syndrome-Associated Mutations

, 2014
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene.
Giglio, Simona, Procopio, Emiliano, Antuzzi, Daniela   +2 more
core   +2 more sources

Additional file 2 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

, 2022
Additional file 2: Supplementary Table 2. List of single molecule molecular inversion probes for target capture of exons and exon-intron boundaries of the GALNS ...
Jayesh Sheth (318977), Harsh Sheth (4843305), Aadhira Nair (12905263), Maulin Shah (11135586), Riddhi Bhavsar (5211767), Frenny Sheth (318968), Premal Naik (12905260)   +6 more
core   +1 more source

3‐Deoxy‐3‐Fluoro Mannuronic Acid Alginates: Stereoselective Automated Synthesis and Conformational Behaviour

Angewandte Chemie, EarlyView.
The impact of C‐3 fluorination on the synthesis and conformation of alginate oligosaccharides is investigated. A C‐3‐fluoro mannuronic acid building block is generated and shown to react with high β‐selectivity. Automated glycan assembly enables access to uniquely fluorinated mannuronic acid alginates where deoxyfluorination is shown not to perturb the
Sean T. Evans, Nishu Yadav, Wouter A. Remmerswaal, Daan Hoogers, Koen N. A. van de Vrande, Sarah Hosking, Ana Poveda, Jeroen D. C. Codée, Jesús Jiménez‐Barbero, Martina Delbianco, Gavin J. Miller   +10 more
wiley   +2 more sources

Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

Journal of Inborn Errors of Metabolism and Screening, 2021
Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues.
Lina Johanna Moreno Giraldo, José María Satizabal, Adalberto Sánchez Gómez   +2 more
doaj   +1 more source

Additional file 1 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

, 2022
Additional file 1: Supplementary Table 1.
Jayesh Sheth (318977), Harsh Sheth (4843305), Aadhira Nair (12905263), Maulin Shah (11135586), Riddhi Bhavsar (5211767), Frenny Sheth (318968), Premal Naik (12905260)   +6 more
core   +1 more source

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Drug Design, Development and Therapy, 2022
Chung-Lin Lee,1– 5 Chih-Kuang Chuang,6,7 Huei-Ching Chiu,1 Ru-Yi Tu,6 Yun-Ting Lo,5 Ya-Hui Chang,1,5 Shuan-Pei Lin,1,3,5,6,8 Hsiang-Yu Lin1,3– 6,9 1Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; 2Institute of Clinical Medicine ...
Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY   +7 more
doaj  

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is due to the deficiency of GALNS (N-acetylgalactosamine 6-sulfate sulfatase) and is characterized by systemic skeletal dysplasia.
Kazuki Sawamoto, Subha Karumuthil-Melethil, Shaukat Khan, Molly Stapleton, Joseph T. Bruder, Olivier Danos, Shunji Tomatsu   +6 more
doaj   +1 more source