Literature DB >> 27859271

Genetics meets pathology - an increasingly important relationship.

David T Bonthron1, William D Foulkes2.   

Abstract

The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of The Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics. Through these, we illustrate the power of genetic analysis to improve our understanding of normal physiology and disease pathology, and thereby to think in rational ways about clinical management.
Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Entities:  

Keywords:  Crispr/Cas9; DNA repair; DNA sequencing; PARP; PINK1; Parkinson's disease; TGF-beta; atopy; autoimmunity; brain tumour; breast cancer; carcinoma in situ; ciliopathy; clonality; colon cancer; complex traits; evolution; genetics; genome stability; genomics; inflammasome; inflammatory bowel disease; mTOR; mitochondrial disease; molecular oncology; muscular dystrophy; polyposis; precision medicine; prostate cancer; pulmonary hypertension; rare diseases; stem cells; tuberous sclerosis; vascular malformation

Mesh:

Substances:

Year:  2017        PMID: 27859271     DOI: 10.1002/path.4849

Source DB:  PubMed          Journal:  J Pathol        ISSN: 0022-3417            Impact factor:   7.996


  4 in total

Review 1.  Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Authors:  Roberta Besio; Chi-Wing Chow; Francesca Tonelli; Joan C Marini; Antonella Forlino
Journal:  FEBS J       Date:  2019-07-05       Impact factor: 5.542

Review 2.  Interrogating Parkinson's disease associated redox targets: Potential application of CRISPR editing.

Authors:  M A Artyukhova; Y Y Tyurina; C T Chu; T M Zharikova; H Bayır; V E Kagan; P S Timashev
Journal:  Free Radic Biol Med       Date:  2019-06-12       Impact factor: 7.376

3.  Tissue Phenomics for prognostic biomarker discovery in low- and intermediate-risk prostate cancer.

Authors:  Nathalie Harder; Maria Athelogou; Harald Hessel; Nicolas Brieu; Mehmet Yigitsoy; Johannes Zimmermann; Martin Baatz; Alexander Buchner; Christian G Stief; Thomas Kirchner; Gerd Binnig; Günter Schmidt; Ralf Huss
Journal:  Sci Rep       Date:  2018-03-13       Impact factor: 4.379

4.  An edge-based statistical analysis of long non-coding RNA expression profiles reveals a negative association between Parkinson's disease and colon cancer.

Authors:  Suyan Tian; Mingyue Zhang; Zhiming Ma
Journal:  BMC Med Genomics       Date:  2021-02-02       Impact factor: 3.063

  4 in total

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