Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Genomic imprinting: mechanism and role in human pathology.

Literature DB >> 8129028

Genomic imprinting: mechanism and role in human pathology.

Abstract

Most genes are expressed from two alleles, one maternal and the other paternal. The term "genomic imprinting" refers to a genetic phenomenon which produces some interesting exceptions to this rule. Genes which are subject to imprinting are molecularly marked before fertilization such that they are transcriptionally silenced at one of the parental alleles in the offspring. A growing body of evidence implicates genomic imprinting in the pathogenesis of certain human genetic diseases, inherited tumor syndromes, and sporadic tumors. This review discusses examples of imprinting, theories as to why the phenomenon exists, possible molecular mechanisms of imprinting, and our current understanding of the role of imprinting in human pathology.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 8129028 PMCID： PMC1887089

Source DB: PubMed Journal: Am J Pathol ISSN： 0002-9440 Impact factor: 4.307

126 in total

1. Congenital myotonic dystrophy in Britain. II. Genetic basis.

Authors: P S Harper
Journal: Arch Dis Child Date: 1975-07 Impact factor: 3.791

2. Parthenogenic origin of benign ovarian teratomas.

Authors: D Linder; B K McCaw; F Hecht
Journal: N Engl J Med Date: 1975-01-09 Impact factor: 91.245

3. Neoplasms associated with the Beckwith-Wiedemann syndrome.

Authors: C Sotelo-Avila; W M Gooch
Journal: Perspect Pediatr Pathol Date: 1976

4. Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome.

Authors: M Lubinsky; J Herrmann; A L Kosseff; J M Opitz
Journal: Lancet Date: 1974-05-11 Impact factor: 79.321

5. The development of teratomas from parthenogenetically activated ovarian mouse eggs.

Authors: L C Stevens; D S Varnum
Journal: Dev Biol Date: 1974-04 Impact factor: 3.582

6. Genetic studies on hydatidiform moles. II. The origin of complete moles.

Authors: S D Lawler; S Povey; R A Fisher; V J Pickthall
Journal: Ann Hum Genet Date: 1982-07 Impact factor: 1.670

7. Complementation studies with mouse translocations.

Authors: A G Searle; C V Beechey
Journal: Cytogenet Cell Genet Date: 1978

8. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis.

Authors: M A Surani; S C Barton; M L Norris
Journal: Nature Date: 1984 Apr 5-11 Impact factor: 49.962

9. A general theory of carcinogenesis.

Authors: D E Comings
Journal: Proc Natl Acad Sci U S A Date: 1973-12 Impact factor: 11.205

10. Parental origin of chromosome 15 deletion in Prader-Willi syndrome.

Authors: M G Butler; C G Palmer
Journal: Lancet Date: 1983-06-04 Impact factor: 79.321

12 in total

1. p57(KIP2) is not mutated in hepatoblastoma but shows increased transcriptional activity in a comparative analysis of the three imprinted genes p57(KIP2), IGF2, and H19.

Authors: W Hartmann; A Waha; A Koch; C G Goodyer; S Albrecht; D von Schweinitz; T Pietsch
Journal: Am J Pathol Date: 2000-10 Impact factor: 4.307

2. The product of the imprinted H19 gene is an oncofetal RNA.

Authors: I Ariel; S Ayesh; E J Perlman; G Pizov; V Tanos; T Schneider; V A Erdmann; D Podeh; D Komitowski; A S Quasem; N de Groot; A Hochberg
Journal: Mol Pathol Date: 1997-02

3. Insulin-like growth factor II is involved in the proliferation control of medulloblastoma and its cerebellar precursor cells.

Authors: Wolfgang Hartmann; Arend Koch; Hendrik Brune; Anke Waha; Ulrich Schüller; Indra Dani; Dorota Denkhaus; Wilhelma Langmann; Udo Bode; Otmar D Wiestler; Karl Schilling; Torsten Pietsch
Journal: Am J Pathol Date: 2005-04 Impact factor: 4.307

Review 4. Role of genomic imprinting in mammalian development.

Authors: Thushara Thamban; Viplove Agarwaal; Sanjeev Khosla
Journal: J Biosci Date: 2020 Impact factor: 1.826

Review 5. Beckwith-Wiedemann syndrome and the insulin-like growth factor-II gene. Does the genotype explain the phenotype?

Authors: D P Witte; K E Bove
Journal: Am J Pathol Date: 1994-10 Impact factor: 4.307

6. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Authors: D Catchpoole; W W Lam; D Valler; I K Temple; J A Joyce; W Reik; P N Schofield; E R Maher
Journal: J Med Genet Date: 1997-05 Impact factor: 6.318

7. Imprinted H19 oncofetal RNA is a candidate tumour marker for hepatocellular carcinoma.

Authors: I Ariel; H Q Miao; X R Ji; T Schneider; D Roll; N de Groot; A Hochberg; S Ayesh
Journal: Mol Pathol Date: 1998-02

Review 8. The insulin-like growth factor system in the prostate.

Authors: D M Peehl; P Cohen; R G Rosenfeld
Journal: World J Urol Date: 1995 Impact factor: 4.226

9. H19 overexpression in breast adenocarcinoma stromal cells is associated with tumor values and steroid receptor status but independent of p53 and Ki-67 expression.

Authors: E Adriaenssens; L Dumont; S Lottin; D Bolle; A Leprêtre; A Delobelle; F Bouali; T Dugimont; J Coll; J J Curgy
Journal: Am J Pathol Date: 1998-11 Impact factor: 4.307

10. H19, a marker of developmental transition, is reexpressed in human atherosclerotic plaques and is regulated by the insulin family of growth factors in cultured rabbit smooth muscle cells.

Authors: D K Han; Z Z Khaing; R A Pollock; C C Haudenschild; G Liau
Journal: J Clin Invest Date: 1996-03-01 Impact factor: 14.808