Literature DB >> 30509934

The genetic basis of disease.

Maria Jackson1, Leah Marks1, Gerhard H W May2, Joanna B Wilson3.   

Abstract

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.
© 2018 The Author(s).

Entities:  

Keywords:  cancer; genetics; genomics; molecular basis of health and disease

Mesh:

Substances:

Year:  2018        PMID: 30509934      PMCID: PMC6279436          DOI: 10.1042/EBC20170053

Source DB:  PubMed          Journal:  Essays Biochem        ISSN: 0071-1365            Impact factor:   8.000


  55 in total

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Journal:  Pediatr Rev       Date:  2001-08

Review 2.  DNA analysis: what and when to request?

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Journal:  Arch Dis Child       Date:  2006-04       Impact factor: 3.791

Review 3.  Epigenetic modulators, modifiers and mediators in cancer aetiology and progression.

Authors:  Andrew P Feinberg; Michael A Koldobskiy; Anita Göndör
Journal:  Nat Rev Genet       Date:  2016-03-14       Impact factor: 53.242

Review 4.  The role of the apoptotic machinery in tumor suppression.

Authors:  Alex R D Delbridge; Liz J Valente; Andreas Strasser
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-11-01       Impact factor: 10.005

Review 5.  A brief history of sex determination.

Authors:  Isabelle Stévant; Marilena D Papaioannou; Serge Nef
Journal:  Mol Cell Endocrinol       Date:  2018-04-07       Impact factor: 4.102

Review 6.  Epigenetics and Human Disease.

Authors:  Huda Y Zoghbi; Arthur L Beaudet
Journal:  Cold Spring Harb Perspect Biol       Date:  2016-02-01       Impact factor: 10.005

7.  A comprehensive survey of Ras mutations in cancer.

Authors:  Ian A Prior; Paul D Lewis; Carla Mattos
Journal:  Cancer Res       Date:  2012-05-15       Impact factor: 12.701

8.  Next-generation sequencing: from understanding biology to personalized medicine.

Authors:  Karen S Frese; Hugo A Katus; Benjamin Meder
Journal:  Biology (Basel)       Date:  2013-03-01

Review 9.  The Biology of Aging and Cancer: A Brief Overview of Shared and Divergent Molecular Hallmarks.

Authors:  Jan R Aunan; William C Cho; Kjetil Søreide
Journal:  Aging Dis       Date:  2017-10-01       Impact factor: 6.745

Review 10.  CRISPR Genome Engineering for Human Pluripotent Stem Cell Research.

Authors:  Somali Chaterji; Eun Hyun Ahn; Deok-Ho Kim
Journal:  Theranostics       Date:  2017-10-07       Impact factor: 11.556

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  43 in total

1.  Discovery of Nucleic Acid Binding Molecules from Combinatorial Biohybrid Nucleobase Peptide Libraries.

Authors:  Sebastian Pomplun; Zachary P Gates; Genwei Zhang; Anthony J Quartararo; Bradley L Pentelute
Journal:  J Am Chem Soc       Date:  2020-11-09       Impact factor: 15.419

2.  Attitudes among South African university staff and students towards disclosing secondary genetic findings.

Authors:  Georgina Spies; Jolynne Mokaya; Jacqui Steadman; Nicole Schuitmaker; Martin Kidd; S M J Hemmings; Jonathan A Carr; Helena Kuivaniemi; Soraya Seedat
Journal:  J Community Genet       Date:  2020-11-20

3.  Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.

Authors:  Liam Abrahams; Rosina Savisaar; Christine Mordstein; Bethan Young; Grzegorz Kudla; Laurence D Hurst
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4.  Clinical application of whole-exome sequencing: A retrospective, single-center study.

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Journal:  Exp Ther Med       Date:  2021-05-12       Impact factor: 2.447

Review 5.  Intellectual disability: dendritic anomalies and emerging genetic perspectives.

Authors:  Tam T Quach; Harrison J Stratton; Rajesh Khanna; Pappachan E Kolattukudy; Jérome Honnorat; Kathrin Meyer; Anne-Marie Duchemin
Journal:  Acta Neuropathol       Date:  2020-11-23       Impact factor: 17.088

Review 6.  Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Authors:  Cigir Biray Avci; Behrouz Shademan; Masoud Nikanfar; Alireza Nourazarian
Journal:  Neuromolecular Med       Date:  2020-05-12       Impact factor: 3.843

Review 7.  Advancing human disease research with fish evolutionary mutant models.

Authors:  Emily A Beck; Hope M Healey; Clayton M Small; Mark C Currey; Thomas Desvignes; William A Cresko; John H Postlethwait
Journal:  Trends Genet       Date:  2021-07-29       Impact factor: 11.639

Review 8.  The 'Jekyll and Hyde' of Gluconeogenesis: Early Life Adversity, Later Life Stress, and Metabolic Disturbances.

Authors:  Snehaa V Seal; Jonathan D Turner
Journal:  Int J Mol Sci       Date:  2021-03-25       Impact factor: 5.923

Review 9.  Exploring the evidence for epigenetic regulation of environmental influences on child health across generations.

Authors:  Carrie V Breton; Remy Landon; Linda G Kahn; Michelle Bosquet Enlow; Alicia K Peterson; Theresa Bastain; Joseph Braun; Sarah S Comstock; Cristiane S Duarte; Alison Hipwell; Hong Ji; Janine M LaSalle; Rachel L Miller; Rashelle Musci; Jonathan Posner; Rebecca Schmidt; Shakira F Suglia; Irene Tung; Daniel Weisenberger; Yeyi Zhu; Rebecca Fry
Journal:  Commun Biol       Date:  2021-06-22

10.  Phaseolin, a Protein from the Seed of Phaseolus vulgaris, Has Antioxidant, Antigenotoxic, and Chemopreventive Properties.

Authors:  Juan Manuel García-Cordero; Nikte Y Martínez-Palma; Eduardo Madrigal-Bujaidar; Cristian Jiménez-Martínez; Eduardo Madrigal-Santillán; José A Morales-González; Rogelio Paniagua-Pérez; Isela Álvarez-González
Journal:  Nutrients       Date:  2021-05-21       Impact factor: 5.717

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