Literature DB >> 8304343

The genetics of retinoblastoma, revisited.

A Naumova1, C Sapienza.   

Abstract

Our epidemiological and genetic analyses of sporadic and familial retinoblastoma indicate that an X-chromosome-linked gene is involved in the genesis of a significant fraction of new bilateral cases of the disease. The activity of this gene results in sex-ratio distortion in favor of males among patients with bilateral sporadic disease. Among the offspring of these males, both sex-ratio distortion in favor of males and transmission-ratio distortion in favor of affecteds are observed. We propose that these phenomena are due to the inability of these males to erase the genome imprint established on the half of the genome inherited from their mothers.

Entities:  

Mesh：

Year:  1994        PMID： 8304343      PMCID： PMC1918175     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  90 in total

1.  Observations on retinoblastoma.

Authors:  U M CARBAJAL
Journal:  Am J Ophthalmol       Date:  1958-03       Impact factor: 5.258

2.  Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.

Authors:  D Lohmann; B Horsthemke; G Gillessen-Kaesbach; F H Stefani; H Höfler
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

3.  Dq-, Dr and retinoblastoma.

Authors:  A I Taylor
Journal:  Humangenetik       Date:  1970

4.  Retinoblastoma and partial deletion of the long arm of chromosome 13.

Authors:  R O Howard; D Warburton; W R Breg; O J Miller; J McKeown; S P Rubin
Journal:  Trans Am Ophthalmol Soc       Date:  1978

5.  Retinoblastoma in Denmark, 1943-1958. A clinical, histopathological, and prognostic study.

Authors:  O A Jensen
Journal:  Acta Ophthalmol (Copenh)       Date:  1965

6.  Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.

Authors:  F Munier; M A Spence; G Pescia; A Balmer; C Gailloud; F Thonney; G van Melle; H P Rutz
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

7.  Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.

Authors:  U Francke; F Kung
Journal:  Med Pediatr Oncol       Date:  1976

8.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

9.  Retinoblastoma in Sweden 1958--1971. A clinical and histopathological study.

Authors:  E Kock; P Naeser
Journal:  Acta Ophthalmol (Copenh)       Date:  1979-06

10.  Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene.

Authors:  Z Onadim; J Hungerford; J K Cowell
Journal:  Br J Cancer       Date:  1992-05       Impact factor: 7.640
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  28 in total

1.  A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

Authors:  Martina Klutz; Dieter Brockmann; Dietmar R Lohmann
Journal:  Am J Hum Genet       Date:  2002-05-09       Impact factor: 11.025

2.  Epigenetics and assisted reproductive technology: a call for investigation.

Authors:  Emily L Niemitz; Andrew P Feinberg
Journal:  Am J Hum Genet       Date:  2004-02-27       Impact factor: 11.025

3.  Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

Authors:  A Girardet; M S McPeek; E P Leeflang; F Munier; N Arnheim; M Claustres; F Pellestor
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  Parental effect of DNA (Cytosine-5) methyltransferase 1 on grandparental-origin-dependent transmission ratio distortion in mouse crosses and human families.

Authors:  Lanjian Yang; Moises Freitas Andrade; Stephane Labialle; Sanny Moussette; Geneviève Geneau; Donna Sinnett; Alexandre Belisle; Celia M T Greenwood; Anna K Naumova
Journal:  Genetics       Date:  2008-01       Impact factor: 4.562

5.  Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma.

Authors:  M V Kato; T Shimizu; M Nagayoshi; A Kaneko; M S Sasaki; Y Ikawa
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

6.  Unilateral retinoblastoma--genetic implications.

Authors:  J Dudgeon
Journal:  Br J Ophthalmol       Date:  1996-03       Impact factor: 4.638

7.  Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.

Authors:  A K Naumova; M Leppert; D F Barker; K Morgan; C Sapienza
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

8.  A highly significant association between a COMT haplotype and schizophrenia.

Authors:  Sagiv Shifman; Michal Bronstein; Meira Sternfeld; Anne Pisanté-Shalom; Efrat Lev-Lehman; Avraham Weizman; Ilya Reznik; Baruch Spivak; Nimrod Grisaru; Leon Karp; Richard Schiffer; Moshe Kotler; Rael D Strous; Marnina Swartz-Vanetik; Haim Y Knobler; Eilat Shinar; Jacques S Beckmann; Benjamin Yakir; Neil Risch; Naomi B Zak; Ariel Darvasi
Journal:  Am J Hum Genet       Date:  2002-10-25       Impact factor: 11.025

9.  Perinatal characteristics and retinoblastoma.

Authors:  Julia E Heck; Christina A Lombardi; Travis J Meyers; Myles Cockburn; Michelle Wilhelm; Beate Ritz
Journal:  Cancer Causes Control       Date:  2012-07-29       Impact factor: 2.506

10.  Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma.

Authors:  A Naumova; M Hansen; L Strong; P A Jones; D Hadjistilianou; D Mastrangelo; S Griegel; M F Rajewsky; J Shields; L Donoso
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025
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