Human gene mutation in pathology and evolution (Q34757182)

4 August 2017

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title

Human gene mutation in pathology and evolution (English)

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4 August 2017

1

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4 August 2017

1 May 2002

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Journal of Inherited Metabolic Disease

4 August 2017

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4 August 2017

25

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4 August 2017

3

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4 August 2017

157-182

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https://scigraph.springernature.com/pub.10.1023/a:1015621710660

4 August 2017

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cites work

Sequence and evolution of the blue cone pigment gene in Old and New World primates.

1 reference

12 December 2020

Influence of exon duplication on intron and exon phase distribution

1 reference

12 December 2020

Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation

1 reference

12 December 2020

Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

1 reference

12 December 2020

The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency

1 reference

12 December 2020

The structure and evolution of the human beta-globin gene family

1 reference

12 December 2020

The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis

1 reference

12 December 2020

Variations on a theme: cataloging human DNA sequence variation

1 reference

12 December 2020

Molecular evolution of the urate oxidase-encoding gene in hominoid primates: nonsense mutations

1 reference

12 December 2020

Molecular pathology of fatal familial insomnia.

2 references

12 December 2020

https://api.crossref.org/works/10.1023%2FA%3A1015621710660

7 January 2021

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing

1 reference

12 December 2020

Inherited factor VII deficiency: molecular genetics and pathophysiology

1 reference

12 December 2020

A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

1 reference

12 December 2020

Recent origin of HLA-DRB1 alleles and implications for human evolution.

1 reference

12 December 2020

Human Gene Mutation Database?A biomedical information and research resource

2 references

12 December 2020

https://api.crossref.org/works/10.1023%2FA%3A1015621710660

7 January 2021

p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions

1 reference

12 December 2020

DNA polymorphism and molecular pathology of the human globin gene clusters

1 reference

12 December 2020

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions

1 reference

12 December 2020

Single nucleotide polymorphisms as tools in human genetics

1 reference

12 December 2020

Identical mutations and phenotypic variation

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Gene sequences suggest inactivation of alpha-1,3-galactosyltransferase in catarrhines after the divergence of apes from monkeys

1 reference

12 December 2020

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

12 December 2020

Functional analysis of the human annexin I and VI gene promoters

1 reference

12 December 2020

Coexistence of factor V Leiden and Factor II A20210 mutations and recurrent venous thromboembolism

1 reference

12 December 2020

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Population Biology, Evolution, and Infectious Disease: Convergence and Synthesis

1 reference

12 December 2020

Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance

1 reference

12 December 2020

Consecutive actions of different gene-altering mechanisms in the evolution of involucrin

1 reference

12 December 2020

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

1 reference

12 December 2020

Human inter-alpha-trypsin inhibitor heavy chain H3 gene. Genomic organization, promoter analysis, and gene linkage

1 reference

12 December 2020

Defective protein folding as a basis of human disease

1 reference

12 December 2020

Glycophorin B and glycophorin E genes arose from the glycophorin A ancestral gene via two duplications during primate evolution

1 reference

12 December 2020

Protein misfolding and degradation in genetic diseases.

1 reference

12 December 2020

Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype

1 reference

12 December 2020

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

1 reference

12 December 2020

High frequencies of human genetic diseases: founder effect with genetic drift or selection?

1 reference

12 December 2020

Polymorphism in the number of genes encoding long-wavelength-sensitive cone pigments among males with normal color vision.

1 reference

12 December 2020

Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution

1 reference

12 December 2020

Evolution of the cryptic FMR1 CGG repeat

1 reference

12 December 2020

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

1 reference

12 December 2020

Physiological anticoagulation. Resistance to activated protein C and venous thromboembolism

1 reference

12 December 2020

A polymorphism (G-->A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency

1 reference

12 December 2020

Analysis of insertions/deletions in protein structures

1 reference

12 December 2020

Single base-pair substitutions in pathology and evolution: two sides to the same coin.

1 reference

12 December 2020

The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells.

1 reference

12 December 2020

Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism

1 reference

12 December 2020

Detecting the form of selection from DNA sequence data.

1 reference

12 December 2020

Complete nucleotide sequence of the human RCC1 gene involved in coupling between DNA replication and mitosis

2 references

12 December 2020

https://api.crossref.org/works/10.1023%2FA%3A1015621710660

7 January 2021

The future of genetic studies of complex human diseases

1 reference

12 December 2020

Frameshift and nonsense mutations in a human genomic sequence homologous to a murine UDP-Gal:beta-D-Gal(1,4)-D-GlcNAc alpha(1,3)-galactosyltransferase cDNA.

1 reference

12 December 2020

The genetic contribution to the phenotype

1 reference

12 December 2020

Organization of the human transferrin gene: direct evidence that it originated by gene duplication

1 reference

12 December 2020

1 reference

12 December 2020

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection

1 reference

12 December 2020

Rates of transition and transversion in coding sequences since the human-rodent divergence

1 reference

12 December 2020

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

1 reference

12 December 2020

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

12 December 2020

The species-specific differences in the cAMP regulation of the tissue-type plasminogen activator gene between rat, mouse and human is caused by a one-nucleotide substitution in the cAMP-responsive element of the promoters

1 reference

12 December 2020

The frequency and position of Alu repeats in cDNAs, as determined by database searching.

1 reference

12 December 2020

Sequence-directed mutagenesis: evidence from a phylogenetic history of human alpha-interferon genes

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

12 December 2020

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

12 December 2020

Highly preferred targets for retrovirus integration

1 reference

12 December 2020

SNPs, protein structure, and disease.

1 reference

12 December 2020

An apportionment of human DNA diversity

1 reference

12 December 2020

Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects

1 reference

12 December 2020

Nuclear DNA diversity in worldwide distributed human populations

1 reference

12 December 2020

Molecular genetic analysis of the human Lewis histo-blood group system

1 reference

12 December 2020

Mobilization of an ERV9 human endogenous retroviral element during primate evolution.

1 reference

12 December 2020

Pathological consequences of sequence duplications in the human genome

1 reference

12 December 2020

A common mutation in the lipoprotein lipase gene promoter, -93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro

1 reference

12 December 2020

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

1 reference

12 December 2020

Positive selection moments identify potential functional residues in human olfactory receptors.

1 reference

12 December 2020

Prediction of deleterious human alleles

1 reference

12 December 2020

Haematological phenotype of the triplicated gamma-globin gene arrangement

1 reference

12 December 2020

Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination.

1 reference

12 December 2020

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

1 reference

12 December 2020

Identification of ligands for olfactory receptors by functional expression of a receptor library

1 reference

12 December 2020

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

12 December 2020

Fate of a redundant gamma-globin gene in the atelid clade of New World monkeys: implications concerning fetal globin gene expression

1 reference

12 December 2020

Primate ABO glycosyltransferases: evidence for trans-species evolution.

1 reference

12 December 2020

Amino acid difference formula to help explain protein evolution

1 reference

12 December 2020

Transduction of 3'-flanking sequences is common in L1 retrotransposition

1 reference

12 December 2020

Evolution of simple repeats in DNA and their relation to human disease

1 reference

12 December 2020

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

12 December 2020

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

1 reference

12 December 2020

Cloning of novel trinucleotide-repeat (CAG) containing genes in mouse brain

1 reference

12 December 2020

Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus

1 reference

12 December 2020

Structure and diversity of the T-cell receptor alpha chain in rhesus macaque and chimpanzee.

1 reference

12 December 2020

Structure and evolution of primate cytochrome c oxidase subunit II gene.

1 reference

12 December 2020

An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels

1 reference

12 December 2020

Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements

1 reference

12 December 2020

Wide variations in neighbor-dependent substitution rates.

1 reference

12 December 2020

Nucleotide substitution at major histocompatibility complex class II loci: evidence for overdominant selection

1 reference

12 December 2020

Genetics of infectious disease resistance

1 reference

12 December 2020

Jewish diseases and origins

1 reference

12 December 2020

Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism

1 reference

12 December 2020

Single base-pair substitutions in pathology and evolution: Two sides to the same coin

1 reference

https://api.crossref.org/works/10.1023%2FA%3A1015621710660

7 January 2021

Identifiers

DOI

10.1023/A:1015621710660

1 reference

PubMed ID

12137225

Dimensions Publication ID

4 August 2017

0 references

1 reference

PubMed ID

12137225