Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations (Q38924874)

7 September 2017

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations (English)

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7 September 2017

11

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7 September 2017

Lorenzo Ferri

4

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Livia Garavelli

Livia Garavelli

12

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Sabrina Giglio

Sabrina Giglio

25

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Amelia Morrone

Amelia Morrone

28

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Rossella Parini

Rossella Parini

27

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Sean D Mooney

17

Sean D Mooney

1 reference

7 September 2017

26

Renzo Guerrini

1 reference

7 September 2017

Anna Caciotti

1

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7 September 2017

Rodolfo Tonin

2

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7 September 2017

Miriam Rigoldi

3

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7 September 2017

Serena Catarzi

5

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7 September 2017

Catia Cavicchi

6

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7 September 2017

Elena Procopio

7

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7 September 2017

Maria Alice Donati

8

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7 September 2017

Anna Ficcadenti

9

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7 September 2017

Agata Fiumara

10

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7 September 2017

Maja Di Rocco

13

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7 September 2017

Mirella Filocamo

14

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7 September 2017

Daniela Antuzzi

15

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7 September 2017

Maurizio Scarpa

16

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7 September 2017

Biao Li

18

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7 September 2017

Anastasia Skouma

19

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7 September 2017

Sebastiano Bianca

20

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7 September 2017

Daniela Concolino

21

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7 September 2017

Rosario Casalone

22

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7 September 2017

Elena Monti

23

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7 September 2017

Marilena Pantaleo

24

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7 September 2017

1 March 2015

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7 September 2017

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7 September 2017

36

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7 September 2017

3

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7 September 2017

357-368

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Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

7 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Utility of the housekeeping genes 18S rRNA, beta-actin and glyceraldehyde-3-phosphate-dehydrogenase for normalization in real-time quantitative reverse transcriptase-polymerase chain reaction analysis of gene expression in human T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Alu repeats and human genomic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mechanisms of eukaryotic DNA double strand break repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

GALNS gene expression profiling in Morquio A patients' fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Prediction of protein stability changes for single-site mutations using support vector machines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mechanisms for human genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

A series of PDB related databases for everyday needs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

The human genome browser at UCSC

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Growth charts for patients affected with Morquio A disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Incidence of the mucopolysaccharidoses in Northern Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

UCSF Chimera--a visualization system for exploratory research and analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Newborn screening and diagnosis of mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Guidelines for reporting and using prediction tools for genetic variation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Diagnosing mucopolysaccharidosis IVA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

7 January 2021

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

7 January 2021

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

7 January 2021

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

7 January 2021

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22751

7 January 2021

Identifiers

DOI

10.1002/HUMU.22751

1 reference

7 September 2017

1 reference