Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

PubWeight™: 1.43‹?› | Rank: Top 5%

🔗 View Article (PMC 1801544)

Published in Am J Hum Genet on August 01, 1995

Authors

B Kremer1, E Almqvist, J Theilmann, N Spence, H Telenius, Y P Goldberg, M R Hayden

Author Affiliations

1: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Articles citing this

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature (2007) 3.03

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84

Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet (2010) 2.67

Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet (2007) 1.86

ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet (1998) 1.46

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet (2011) 1.41

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet (2001) 1.39

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet (2002) 1.25

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. Am J Hum Genet (1997) 1.07

Risk reversals in predictive testing for Huntington disease. Am J Hum Genet (1997) 1.06

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A (2009) 1.03

A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease. J Neurophysiol (2011) 1.01

Early onset Huntington disease: a neuronal degeneration syndrome. Eur J Pediatr (2004) 0.97

Further evidence of a maternal parent-of-origin effect on chromosome 10 in late-onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2006) 0.92

Trinucleotide repeat deletion via a unique hairpin bypass by DNA polymerase β and alternate flap cleavage by flap endonuclease 1. Nucleic Acids Res (2012) 0.88

Huntington disease--another chapter rewritten. Am J Hum Genet (1996) 0.86

Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease. J Probab Stat (2012) 0.84

Therapeutic approaches to preventing cell death in Huntington disease. Prog Neurobiol (2012) 0.84

Neural stem cells could serve as a therapeutic material for age-related neurodegenerative diseases. World J Stem Cells (2015) 0.81

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. Genetics (2016) 0.75

Clinical and genetic investigation of a Brazilian family with Huntington's disease. Funct Neurol (2016) 0.75

Close encounters: Moving along bumps, breaks, and bubbles on expanded trinucleotide tracts. DNA Repair (Amst) (2017) 0.75

Articles cited by this

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87

Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet (1993) 6.53

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med (1994) 4.60

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet (1993) 3.04

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet (1994) 2.31

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet (1993) 2.02

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet (1993) 2.00

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet (1993) 1.55

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J Med Genet (1994) 1.54

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet (1994) 1.40

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39

Molecular analysis of late onset Huntington's disease. J Med Genet (1993) 1.21

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J Med Genet (1993) 1.20

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Hum Mol Genet (1995) 1.19

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet (1993) 1.15

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet (1994) 1.13

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet (1995) 1.13

Articles by these authors

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82

The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med (1992) 5.51

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (2001) 5.28

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet (2004) 4.73

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med (1994) 4.60

A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron (1999) 3.50

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell (1995) 3.45

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet (1993) 3.04

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84

Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther (2013) 2.70

A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65

Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet (1994) 2.31

Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther (2008) 2.31

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 2.15

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet (1999) 2.12

Clinical markers of early disease in persons near onset of Huntington's disease. Neurology (2001) 2.11

An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J Cell Biol (1999) 2.10

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet (1999) 2.02

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest (2000) 1.98

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97

Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci (2000) 1.92

The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol (1998) 1.87

Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice. Diabetologia (2010) 1.87

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet (1992) 1.85

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82

Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol Chem (2000) 1.79

Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Differ (1998) 1.76

NMDA receptor function in mouse models of Huntington disease. J Neurosci Res (2001) 1.76

Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet (1990) 1.75

Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation (2001) 1.71

First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70

Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem (1999) 1.66

Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer (2013) 1.65

Lipoprotein lipase activity is associated with severity of angina pectoris. REGRESS Study Group. Circulation (2000) 1.65

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64

Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res (2001) 1.62

DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet (1987) 1.61

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J (2011) 1.60

Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. Am J Med Genet (1993) 1.59

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet (1993) 1.55

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet (1995) 1.55

HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. J Biol Chem (2001) 1.54

Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci U S A (2001) 1.51

Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group. Circulation (1997) 1.51

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem (1996) 1.47

Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum Genet (1991) 1.46

Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet (1989) 1.46

Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits. Clin Pharmacol Ther (2010) 1.44

Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ (2004) 1.44

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics (1987) 1.42

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet. Clin Genet (1989) 1.41

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet (1994) 1.40

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet (2001) 1.39

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39

Out-patient cognitive-behavioural therapy with amitriptyline for chronic non-malignant pain: a comparative study with 6-month follow-up. Pain (1995) 1.39

George Huntington: the man behind the eponym. J Med Genet (1993) 1.39

Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet (2000) 1.38

Positron emission tomography in the early diagnosis of Huntington's disease. Neurology (1986) 1.33