Molecular basis of inherited diseases: a structural perspective (Q35212660)

7 August 2017

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title

Molecular basis of inherited diseases: a structural perspective (English)

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7 August 2017

3

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7 August 2017

4

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7 August 2017

Robert E Steward

1

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PubMed ID

12957544

7 August 2017

Malcolm W MacArthur

series ordinal

2

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7 August 2017

1 September 2003

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7 August 2017

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7 August 2017

19

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7 August 2017

505-513

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7 August 2017

9

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The human gene mutation database

7 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Gene ontology: tool for the unification of biology

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The Proteome Analysis database: a tool for the in silico analysis of whole proteomes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

SNPs, protein structure, and disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Crystal structure of human uroporphyrinogen decarboxylase

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The von Hippel-Lindau tumor suppressor protein

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Inhibition of transcription elongation by the VHL tumor suppressor protein

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Twenty years of p53 research: structural and functional aspects of the p53 protein

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Structure and function of the von Willebrand factor A1 domain

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Human germline mutation in the factor IX gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Transthyretin: a review from a structural perspective.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

A comparative analysis of 23 structures of the amyloidogenic protein transthyretin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Insights into Lou Gehrig's disease from the structure and instability of the A4V mutant of human Cu,Zn superoxide dismutase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Initial sequencing and comparative analysis of the mouse genome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Dobzhansky-Muller incompatibilities in protein evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

The IARC TP53 database: new online mutation analysis and recommendations to users

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Neurodegenerative disorders of protein aggregation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Transcription factor haploinsufficiency: when half a loaf is not enough

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Correlations of genotype and phenotype in hypophosphatasia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Scoring residue conservation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

Structures of human transthyretin complexed with thyroxine at 2.0 A resolution and 3',5'-dinitro-N-acetyl-L-thyronine at 2.2 A resolution.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900195-1

7 January 2021

10.1016/S0168-9525(03)00195-1

Identifiers

DOI

1 reference

7 August 2017

1 reference

PubMed ID

12957544