Structural location of disease-associated single-nucleotide polymorphisms (Q48008000)

7 February 2018

title

Structural location of disease-associated single-nucleotide polymorphisms (English)

1 reference

7 February 2018

single-nucleotide polymorphism

main subject

1 reference

Nathan O Stitziel

1

0 references

author name string

Yan Yuan Tseng

2

1 reference

7 February 2018

Dimitri Pervouchine

3

1 reference

7 February 2018

David Goddeau

4

1 reference

7 February 2018

Simon Kasif

5

1 reference

7 February 2018

Jie Liang

6

1 reference

7 February 2018

language of work or name

English

0 references

publication date

1 April 2003

1 reference

7 February 2018

Journal of Molecular Biology

number of pages

10

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

7 February 2018

volume

327

1 reference

7 February 2018

issue

5

1 reference

7 February 2018

page(s)

1021-1030

1 reference

7 February 2018

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1

cites work

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

The new genomics: global views of biology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Diverse point mutations in the human gene for polymorphic N-acetyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Active barnase variants with completely random hydrophobic cores

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

The Pfam protein families database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Studies of protein-protein interfaces: a statistical analysis of the hydrophobic effect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Hydrophobic folding units at protein-protein interfaces: implications to protein folding and to protein-protein association

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Conservation of polar residues as hot spots at protein interfaces

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Anatomy of protein pockets and cavities: measurement of binding site geometry and implications for ligand design

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Computation of molecular electrostatics with boundary element methods

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Chemical complementation identifies a proton acceptor for redox-active tyrosine D in photosystem II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Analytical shape computation of macromolecules: II. Inaccessible cavities in proteins.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Analytical shape computation of macromolecules: I. Molecular area and volume through alpha shape.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Helix-helix packing and interfacial pairwise interactions of residues in membrane proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Interhelical hydrogen bonds and spatial motifs in membrane proteins: polar clamps and serine zippers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Are proteins well-packed?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Three-dimensional alpha shapes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

On the definition and the construction of pockets in macromolecules

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

dbSNP: a database of single nucleotide polymorphisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Hidden Markov models in computational biology. Applications to protein modeling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

The Pfam protein families database.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-2836(03)00240-7

10.1016/S0022-2836(03)00240-7

7 January 2021

Identifiers

DOI

1 reference

7 February 2018

1 reference

7 February 2018