Simple tandem DNA repeats and human genetic disease (Q24561717)

Proceedings of the National Academy of Sciences of the United States of America

Europe PubMed Central

title

Simple tandem DNA repeats and human genetic disease (English)

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1 reference

G R Sutherland

1

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R I Richards

series ordinal

2

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language of work or name

English

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publication date

25 April 1995

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published in

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volume

92

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issue

9

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page(s)

3636-41

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cites work

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Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

24 March 2017

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Mutation of a mutL homolog in hereditary colon cancer

24 March 2017

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The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

24 March 2017

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Genetic mapping of a locus predisposing to human colorectal cancer

24 March 2017

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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

24 March 2017

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

24 March 2017

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The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

24 March 2017

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

24 March 2017

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Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

24 March 2017

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The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

24 March 2017

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

24 March 2017

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

24 March 2017

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

24 March 2017

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Microsatellite instability in cancer of the proximal colon

24 March 2017

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Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

7 April 2017

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Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

7 April 2017

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

27 September 2017

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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus

27 September 2017

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Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

27 September 2017

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Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]

27 September 2017

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Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Genetic effects of deoxyribonucleotide pool imbalances

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Adaptive reversion of a frameshift mutation in Escherichia coli

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Anticipation in myotonic dystrophy: new light on an old problem

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Fragile-X syndrome: unique genetics of the heritable unstable element

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Dynamic mutations: a new class of mutations causing human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Clues to the pathogenesis of familial colorectal cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Polygenic control of autoimmune diabetes in nonobese diabetic mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Adaptive reversion of a frameshift mutation in Escherichia coli by simple base deletions in homopolymeric runs

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Frequency and stability of the fragile X premutation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Fragile X genotype characterized by an unstable region of DNA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Absence of expression of the FMR-1 gene in fragile X syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Adaptive mutation by deletions in small mononucleotide repeats.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Is DRPLA also linked to 14q?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

The marker (X) syndrome: a cytogenetic and genetic analysis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Hereditary unstable DNA: a new explanation for some old genetic questions?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=42017

Simple repeat DNA is not replicated simply

28 November 2018

1 reference

12 December 2020

Sex and trinucleotide repeats

1 reference

12 December 2020

Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

1 reference

12 December 2020

Evaluation of cultural methods and selective media for the isolation of Campylobacter fetus subsp venerealis from cattle

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Evidence of founder chromosomes in fragile X syndrome

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Increased expression of phosphotyrosine after axotomy in the dorsal motor nucleus of the vagus nerve and the hypoglossal nucleus

1 reference

12 December 2020

Precursor arrays for triplet repeat expansion at the fragile X locus

1 reference

12 December 2020

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1 reference

12 December 2020

Intergenerational stability of the myotonic dystrophy protomutation

1 reference

12 December 2020

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

12 December 2020

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.92.9.3636

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3559861

ADS bibcode

1995PNAS...92.3636S

0 references

OpenCitations bibliographic resource ID

3559861

1 reference