Literature DB >> 2574254

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.

A G van der Mey1, P D Maaswinkel-Mooy, C J Cornelisse, P H Schmidt, J J van de Kamp.   

Abstract

A study based on fifteen pedigrees showed that familial glomus tumours are inherited almost exclusively via the paternal line, a finding inconsistent with autosomal dominant transmission. The results can be explained in terms of the genomic imprinting hypothesis--the maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. Genomic imprinting may have considerable implications for genetic counselling with respect to glomus tumours and also for the understanding of other hereditary diseases.

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Year:  1989        PMID： 2574254     DOI： 10.1016/s0140-6736(89)91908-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  48 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.  Genomic imprinting for pathologists.

Authors:  C L Berry
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1991

3.  Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.

Authors:  Margarita Raygada; Kathryn S King; Karen T Adams; Constantine A Stratakis; Karel Pacak
Journal:  J Pediatr Endocrinol Metab       Date:  2014-09       Impact factor: 1.634

Review 4.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

5.  Evidence for genetic anticipation in non-Mendelian diseases.

Authors:  A D Paterson; J L Kennedy; A Petronis
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

6.  Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

Authors:  Monica L Marvin; Carol R Bradford; James C Sisson; Stephen B Gruber
Journal:  Head Neck       Date:  2009-05       Impact factor: 3.147

7.  The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

Authors:  A P Gimenez-Roqueplo; J Favier; P Rustin; J J Mourad; P F Plouin; P Corvol; A Rötig; X Jeunemaitre
Journal:  Am J Hum Genet       Date:  2001-10-16       Impact factor: 11.025

Review 8.  Update on pediatric pheochromocytoma.

Authors:  Bas Havekes; Johannes A Romijn; Graeme Eisenhofer; Karen Adams; Karel Pacak
Journal:  Pediatr Nephrol       Date:  2008-06-20       Impact factor: 3.714

Review 9.  Hereditary paraganglioma targets diverse paraganglia.

Authors:  B E Baysal
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

10.  Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

Authors:  Mariola Peczkowska; Zoran Erlic; Michael M Hoffmann; Mariusz Furmanek; Jaroslaw Cwikla; Agata Kubaszek; Aleksander Prejbisz; Zbigniew Szutkowski; Andrzej Kawecki; Krzysztof Chojnowski; Anna Lewczuk; Mieczyslaw Litwin; Witold Szyfter; Martin A Walter; Maren Sullivan; Charis Eng; Andrzej Januszewicz; Hartmut P H Neumann
Journal:  J Clin Endocrinol Metab       Date:  2008-09-30       Impact factor: 5.958
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