Gaucher disease: complexity in a "simple" disorder (Q35908938)

11 August 2017

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title

Gaucher disease: complexity in a "simple" disorder (English)

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11 August 2017

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Ellen Sidransky

1

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11 August 2017

1 September 2004

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Molecular Genetics and Metabolism

11 August 2017

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11 August 2017

83

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11 August 2017

6-15

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11 August 2017

1-2

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Monogenic traits are not simple: lessons from phenylketonuria

11 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Neurologic Complications of Nonneuronopathic Gaucher's Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Occurrence of Parkinson's syndrome in type I Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

The human glucocerebrosidase gene and pseudogene: structure and evolution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Hematologically important mutations: Gaucher disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher's disease: molecular, genetic and enzymological aspects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher disease: new molecular approaches to diagnosis and treatment

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher disease: gene frequencies and genotype/phenotype correlations

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Twin pairs showing discordance of phenotype in adult Gaucher's disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaudier patients with oculomotor abnormalities do not have a unique genotype

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

DNA mutation analysis of Gaucher patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Type 2 Gaucher disease: the collodion baby phenotype revisited

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Structure and organization of the human metaxin gene (MTX) and pseudogene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Beyond Mendel: an evolving view of human genetic disease transmission

7 January 2021

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Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

7 January 2021

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Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

7 January 2021

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Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

7 January 2021

1 reference

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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

7 January 2021

1 reference

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Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

7 January 2021

1 reference

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Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Echocardiographic assessment of pulmonary hypertension in Gaucher's disease

7 January 2021

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Cholelithiasis in patients with Gaucher disease.

7 January 2021

1 reference

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Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

7 January 2021

1 reference

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7 January 2021

1 reference

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Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Neuropathology provides clues to the pathophysiology of Gaucher disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Gaucher disease associated with parkinsonism: four further case reports

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Parkinsonism among Gaucher disease carriers

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Glucocerebrosidase mutations in subjects with parkinsonism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.015

Alzheimer's disease and Parkinson's disease

7 January 2021

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Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk

7 January 2021

1 reference

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Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

7 January 2021

1 reference

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Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

7 January 2021

1 reference

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Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.

7 January 2021

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Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait

7 January 2021

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Is there a paradigm shift in genetics? Lessons from the study of human diseases

7 January 2021

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Unfolding the role of protein misfolding in neurodegenerative diseases

7 January 2021

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10.1016/J.YMGME.2004.08.015

7 January 2021

Identifiers

DOI

1 reference

11 August 2017

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PubMed ID

15464415