Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. (Q30341540)

20 June 2017

title

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. (English)

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20 June 2017

Lennart Nilsson

2

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author name string

Jianxin Duan

series ordinal

1

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20 June 2017

Bo Lambert

series ordinal

3

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20 June 2017

language of work or name

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1 June 2004

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20 June 2017

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20 June 2017

volume

23

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20 June 2017

issue

6

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20 June 2017

page(s)

599-611

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In vivo somatic mutations in humans: measurement and analysis

20 June 2017

cites work

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Relational database model for DNA mutations and a software program for implementation of the model

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Software for the analysis of mutations at the human hprt gene

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International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo

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An exploratory analysis of multiple mutation spectra

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Hprt activities and RNA phenotypes in 6-thioguanine resistant human T-lymphocytes

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Mutational spectra at the hypoxanthine–guanine phosphoribosyltransferase (HPRT) locus in T-lymphocytes of nonsmoking and smoking lung cancer patients

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Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults

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T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood

21 January 2018

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7 January 2021

Ternary complex structure of human hgprtase, prpp, mg2 , and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding

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The Protein Data Bank

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Spectrum of somatic mutation at the hypoxanthine phosphoribosyltransferase (hprt) gene of healthy people.

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Analysis of mutations occurring at the human hprt locus.

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Databases and software for the analysis of mutations in the human p53 gene, the human hprt gene and the lacZ gene in transgenic rodents.

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Mammalian cell genetics. II. Chemical induction of specific locus mutations in Chinese hamster cells in vitro

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7 January 2021

Purine phosphoribosyltransferases.

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The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP

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7 January 2021

Approaching the transition state in the crystal structure of a phosphoribosyltransferase

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7 January 2021

A 1.4 A crystal structure for the hypoxanthine phosphoribosyltransferase of Trypanosoma cruzi

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7 January 2021

Crystal structures of free, IMP-, and GMP-bound Escherichia coli hypoxanthine phosphoribosyltransferase

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SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

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Crystal structures of the Toxoplasma gondii hypoxanthine-guanine phosphoribosyltransferase-GMP and -IMP complexes: comparison of purine binding interactions with the XMP complex

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7 January 2021

Crystal structure of Toxoplasma gondii hypoxanthine-guanine phosphoribosyltransferase with XMP, pyrophosphate, and two Mg(2 ) ions bound: insights into the catalytic mechanism

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7 January 2021

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

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7 January 2021

Human and Mouse Hypoxanthine-Guanine Phosphoribosyltransferase: Dimers and Tetramers

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7 January 2021

The recognition of Lesch‐Nyhan syndrome as an inborn error of purine metabolism

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Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene

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7 January 2021

Spectrum of point mutations in the coding region of the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene in human T-lymphocytes in vivo.

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7 January 2021

The 2.0 A structure of malarial purine phosphoribosyltransferase in complex with a transition-state analogue inhibitor

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The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor

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7 January 2021

Crystal structure of the hypoxanthine-guanine-xanthine phosphoribosyltransferase from the protozoan parasite Tritrichomonas foetus

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Human Gene Mutation Database (HGMD): 2003 update

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The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects

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Evidence against the existence of real isozymes of hypoxanthine phosphoribosyltransferase

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

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Catalysis in Human Hypoxanthine-Guanine Phosphoribosyltransferase: Asp 137 Acts as a General Acid/Base

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20047

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20 June 2017

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