Literature DB >> 25537357

It is time to take timing seriously in clinical genetics.

György Kosztolányi1.   

Abstract

Observations made by molecular techniques on the genome along the individuals' lifetime indicate that the genome in somatic cells displays changes at molecular, cellular, and organismal levels. Timing of genetic events leading to somatic mosaicism and gene expression dynamism results in a highly important variable for comprehending the role of genetics in health and disease. Consideration of time in clinical genetics should be enthusiastically invested into research strategy, interpretation of the results, diagnostic routine, and particularly in ethical discussions.

Mesh:

Year:  2014        PMID: 25537357      PMCID: PMC4613471          DOI: 10.1038/ejhg.2014.271

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  30 in total

1.  Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.

Authors:  Jonas Mengel-From; Mikael Thinggaard; Lene Christiansen; James W Vaupel; Karen Helene Orstavik; Kaare Christensen
Journal:  Eur J Hum Genet       Date:  2011-12-07       Impact factor: 4.246

Review 2.  Understanding systems-level properties: timely stories from the study of clocks.

Authors:  John B Hogenesch; Hiroki R Ueda
Journal:  Nat Rev Genet       Date:  2011-05-10       Impact factor: 53.242

Review 3.  Somatic mosaicism in healthy human tissues.

Authors:  Subhajyoti De
Journal:  Trends Genet       Date:  2011-04-14       Impact factor: 11.639

4.  Questioning the limits of genomic privacy.

Authors:  Bartha M Knoppers; Edward S Dove; Jan-Eric Litton; J J Nietfeld
Journal:  Am J Hum Genet       Date:  2012-09-07       Impact factor: 11.025

Review 5.  A genomic view of mosaicism and human disease.

Authors:  Leslie G Biesecker; Nancy B Spinner
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

6.  Dynamic and static maintenance of epigenetic memory in pluripotent and somatic cells.

Authors:  Zohar Shipony; Zohar Mukamel; Netta Mendelson Cohen; Gilad Landan; Elad Chomsky; Shlomit Reich Zeliger; Yael Chagit Fried; Elena Ainbinder; Nir Friedman; Amos Tanay
Journal:  Nature       Date:  2014-07-13       Impact factor: 49.962

7.  Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Authors:  Sheila Santín; Gemma Bullich; Bárbara Tazón-Vega; Rafael García-Maset; Isabel Giménez; Irene Silva; Patricia Ruíz; José Ballarín; Roser Torra; Elisabet Ars
Journal:  Clin J Am Soc Nephrol       Date:  2011-03-17       Impact factor: 8.237

8.  Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia.

Authors:  Sujit Maiti; Kiran Halagur Bhoge Gowda Kumar; Christina A Castellani; Richard O'Reilly; Shiva M Singh
Journal:  PLoS One       Date:  2011-03-02       Impact factor: 3.240

Review 9.  Dynamic regulation of transcriptional states by chromatin and transcription factors.

Authors:  Ty C Voss; Gordon L Hager
Journal:  Nat Rev Genet       Date:  2013-12-17       Impact factor: 53.242

10.  The circadian clock coordinates ribosome biogenesis.

Authors:  Céline Jouffe; Gaspard Cretenet; Laura Symul; Eva Martin; Florian Atger; Felix Naef; Frédéric Gachon
Journal:  PLoS Biol       Date:  2013-01-03       Impact factor: 8.029

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