万维提示：
1、投稿方式：官网投稿。
2、期刊网址：
https://www.sciencedirect.com/journal/molecular-genetics-and-metabolism
3、投稿网址：
https://www.editorialmanager.com/mgm/default1.aspx
4、官网邮箱：mgm@elsevier.com（编辑部）
5、期刊刊期：月刊，一年出版12期。
2022年01月11日星期二
投稿须知【官网信息】
MOLECULAR GENETICS AND METABOLISM
Your Paper Your Way
We now differentiate between the requirements for new and revised submissions. You may choose to submit your manuscript as a single Word or PDF file to be used in the refereeing process. Only when your paper is at the revision stage, will you be requested to put your paper in to a 'correct format' for acceptance and provide the items required for the publication of your article.
To find out more, please visit the Preparation section below.
Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states.
Research Areas include:
•Inherited Metabolic Diseases
- Biochemical studies of primary enzyme defects
- Molecular genetic analyses of mutations
- Pathogenesis of these disorders, including not only primary but also secondary metabolic alterations
• Systems Biology
- Functional integration of biochemical network modules
- Moonlighting functions of proteins
• Intercellular and Intracellular Metabolic Relationships
- Biochemical interactions between cells
- Functional roles of and interactions between subcellular compartments and distinct regions within these cellular spaces, termed microcompartments
- Metabolic relations between individual enzymes and pathways
• Cellular Catalysts
- Protein and nonprotein catalyst in normal and deranged cellular metabolism
- Relationships between the structure and function of catalytic molecules
- Interaction of these catalysts with other cellular components
• Disease Pathogenesis
- Underlying mechanisms of inherited and acquired diseases
- Relationships between genotype and phenotype at the biochemical and molecular levels
• Treatment
- Drug, protein and dietary interventions
- Transplantation and gene therapy
- Multicenter clinical trials
- Pharmacogenetics / Pharmacogenomics
Submitted manuscripts claiming to be a demonstration of a new mutation will be rejected and returned to authors without review unless the authors present results of a search for the new mutation in at least 100 chromosomes from unaffected individuals of the same ethnic background as the patient(s) with the new mutation.
Authors should perform a power calculation to determine how many subjects they need to study in order to find a significant association between a sequence variation and a disorder. The results of the power calculation should be included in the methods section of the manuscript. Submitted manuscripts without a power calculation will be rejected and returned to authors without review.
Authors attempting to demonstrate genotype/phenotype correlation should review the literature below to help them interpret their results:
R. Dorfman, A. Sandford et al., Complex two-gene modulation of lung disease severity in children with cystic fibrosis, J. Clin. Invest. 118 (2008) 1040-1049,
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2248329. K.M. Dipple, E.R.B. McCabe, Modifier genes convert "simple" Mendelian disorders to complex traits, Mol. Genet. Metab. 71 (2000) 43-50.
K.M. Dipple, E.R.B. McCabe, Phenotypes of patients with "simple" Mendelian disorders are complex traits: Threshholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735.
K.M. Dipple, J.K. Phelan, E.R.B. McCabe, Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50.
C.R. Scriver, P.J. Waters, Monogenic traits are not simple: Lessons learned from phenylketonuria. Trends Genet. 15 (1999) 267-272.
J. Vockley, P. Rinaldo, M.J. Bennett, G.D. Vladutiu, Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18.
Types of paper
In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.
Original articles will be considered on the basis of the originality and quality of the work, the clarity of the presentation, and the relevance of the research to the goal of the journal. At the discretion of the Editor, an original article may be accompanied by a Commentary by a member of the Editorial Board or another contributor.
Minireviews will describe timely advances within the scope of the journal, emphasizing emerging topical areas and/or critically analyzing existing data. Contributors should communicate with the Editor before preparing or submitting a review in order to determine if the topic and intent are considered appropriate. At the discretion of the Editor, reviews may be accompanied by comment from one of the Editors or another contributor. Minireviews may be any length and may include any number of references. Figures and tables may be included.
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更多详情：
https://www.elsevier.com/journals/molecular-genetics-and-metabolism/1096-7192/guide-for-authors
