(Q44069010)

29 November 2017

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease (English)

1 reference

29 November 2017

2

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29 November 2017

Flemming Steen Jørgensen

4

1 reference

29 November 2017

Peter Bross

5

0 references

Michael Krawczak

7

object named as

Michael Krawczak

1 reference

29 November 2017

Bent N Terp

1

1 reference

29 November 2017

Inge T Christensen

3

1 reference

29 November 2017

Niels Gregersen

6

1 reference

29 November 2017

1 August 2002

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29 November 2017

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29 November 2017

20

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29 November 2017

2

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29 November 2017

98-109

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

29 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Multiple test procedures other than Bonferroni's deserve wider use.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

The Protein Data Bank

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Protein misfolding and degradation in genetic diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Molecular mechanics calculations of proteins. Comparison of different energy minimization strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

The structural basis of phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Comparative modeling methods: application to the family of the mammalian serine proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

A comparative analysis of 23 structures of the amyloidogenic protein transthyretin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

PROCHECK: a program to check the stereochemical quality of protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Transthyretin mutations in hyperthyroxinemia and amyloid diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

What do dysfunctional serpins tell us about molecular mobility and disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

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.10095

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Defective protein folding as a basis of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

WHAT IF: a molecular modeling and drug design program

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

SNPs, protein structure, and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

Laws of form revisited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

Validation of the general purpose Tripos 5.2 force field

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Predicting local structural changes that result from point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Predicting protein stability changes upon mutation using database-derived potentials: solvent accessibility determines the importance of local versus non-local interactions along the sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Role of structural and sequence information in the prediction of protein stability changes: comparison between buried and partially buried mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

The 2.8 A crystal structure of Gla-domainless activated protein C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Identifiers

DOI

10.1002/HUMU.10095

1 reference

29 November 2017

1 reference