(Q30375382)

21 June 2017

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title

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods. (English)

1 reference

21 June 2017

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Janita Thusberg

1

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21 June 2017

Mauno Vihinen

series ordinal

2

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21 June 2017

language of work or name

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1 May 2009

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21 June 2017

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21 June 2017

volume

30

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21 June 2017

issue

5

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21 June 2017

page(s)

703-714

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Accurate prediction of solvent accessibility using neural networks-based regression.

21 June 2017

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7 January 2021

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7 January 2021

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7 January 2021

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Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Integration of genome data and protein structures: prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

The structural basis of hyper IgM deficiency - CD40L mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Intrinsically unstructured proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

The role of structural disorder in the function of RNA and protein chaperones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Accurate prediction of deleterious protein kinase polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Insight into the structure of amyloid fibrils from the analysis of globular proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

The PASTA server for protein aggregation prediction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Short amino acid stretches can mediate amyloid formation in globular proteins: the Src homology 3 (SH3) case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

The amino-acid mutational spectrum of human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Flavors of protein disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Spritz: a server for the prediction of intrinsically disordered regions in protein sequences using kernel machines.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Linear regression models for solvent accessibility prediction in proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

M-Coffee: combining multiple sequence alignment methods with T-Coffee

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

SNPs, protein structure, and disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Prediction and Functional Analysis of Native Disorder in Proteins from the Three Kingdoms of Life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Database resources of the National Center for Biotechnology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Alanine scanning mutagenesis of Abeta(1-40) amyloid fibril stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

The genomic landscapes of human breast and colorectal cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Non-globular domains in protein sequences: automated segmentation using complexity measures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Exploring steric constraints on protein mutations using MAGE/PROBE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Visualizing and quantifying molecular goodness-of-fit: small-probe contact dots with explicit hydrogen atoms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

RONN: the bio-basis function neural network technique applied to the detection of natively disordered regions in proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Eris: an automated estimator of protein stability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Detecting hidden sequence propensity for amyloid fibril formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Loss of protein structure stability as a major causative factor in monogenic disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

SNPs3D: candidate gene and SNP selection for association studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Distance-scaled, finite ideal-gas reference state improves structure-derived potentials of mean force for structure selection and stability prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20938

7 January 2021

Identifiers

DOI

10.1002/HUMU.20938

1 reference

release_p2zjwq2rarb3pmegi6hn2atjcy

21 June 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/p2zjwq2rarb3pmegi6hn2atjcy

24 November 2022

mapped directly with Wikidata item

1 reference