1,754,796 research outputs found
State-of-the-Art Molecular Genetics and Genomics in Germany
No full textThe Special Issue State-of-the-Art Molecular Genetics and Genomics in Germany focuses on German researchers and their international peers, covering their recent advances in genetics, genomics, epigenetics, and cytogenetics/cytogenomics in relation to prokaryotic and eukaryotic multicellular to mammalian organisms in arras ranging from basic to medical research [...
Special Issue “Latest Review Papers in Molecular Genetics and Genomics 2023”
No full textIn the rapidly evolving landscape of molecular genetics and genomics, this Special Issue brings together a collection of insightful review articles that delve into the forefront of scientific exploration [...
Genetic variation spectrum in <i>ATP7B</i> gene identified in Latvian patients with Wilson disease
Full text linkFunding Information: This study was partially financed by the grant of Riga Stradin©≤s University, Department of Doctoral studies, grant of Roche Academy, and the funds of Latvian Council of Science (No. 09.1384; No 10.0010.02 and No. 05.0023). Publisher Copyright: © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.Background: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. Methods: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele. Results: We identified 15 different allelic variants along with eight non-disease-causing allelic variants. Based on the gene molecular analysis and patients' clinical data variant p.His1069Gln was found in 66.9% of WD alleles. Wide clinical variability was observed among individuals with the same ATP7B genotype. The results of our study confirm that neurological manifestations of WD are typically present later than the liver disease but no significant association between the presence/absence of the most common genetic variant and mode of initial WD presentation or age at presentation was identified. Conclusions: (1) The most prevalent mutation in Latvian patients with Wilson disease was c.3207C>A (p.His1069Gln); (2) No significant phenotype–genotype correlation was found in Latvian patients with Wilson disease; (3) The estimated prevalence of Wilson disease in Latvia is 1 of 24,000 cases which is higher than frequently quoted prevalence of 1: 30,000.Peer reviewe
Clinical molecular genetics in the UK c.1975-c.2000
No full textseminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities. Discussions of molecular research into haemoglobin disorders, and the development of probes for related genes in the 1970s, included particular acknowledgment of Southern blotting as a critical tool for such research. Also noted was a landmark conference in Crete in 1978 that emphasized the special significance of research work on thalassaemia, as well as providing fruitful networking opportunities for scientists from around the world. Similarly, in 1982, a key course at Leiden University introduced molecular techniques to geneticists from across Europe. In that same year the first prenatal diagnosis by chorionic villus sampling was published, and the emotional aspects of such genetic diagnoses for patients, families and clinicians were frequently discussed during the seminar. Other issues, including the funding of research, and especially the role of patient support groups; the establishment and growth of professional interest groups and bodies such as the Clinical Molecular Genetics Society; and the development of national genetics
Molecular genetics and functional characterization of ciliopathies
No full textPrimary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles in chemo- and mechanosensation. A suite of inherited human conditions are caused by defects in the structure or function of primary cilia, and the study of these so-called ‘ciliopathies’ offers an insight into the roles of cilia in normal development and disease.Meckel-Gruber syndrome (MKS) is the most severe ciliopathy, an embryonic lethal condition affecting multiple organ systems. At the opposite end of the ciliopathy phenotypic spectrum, Leber’s Congenital Amaurosis (LCA) type 5 is a ciliopathy with a phenotype restricted to the retina. These conditions provide excellent models to study the importance of cilia. The work in this project aims to elucidate the function of the primary cilium, by studying the molecular genetics of these ciliopathies, using a candidate gene approach, and by studying the proteins mutated in these diseases.Genetic screening identifies C2CD3 as a possible modifier of multi-organ ciliopathies, and suggests that LCA5 is only involved in retinal ciliopathies. Functional work focuses on three poorly-understood ciliopathy proteins: lebercilin, mutated in LCA; and meckelin and MKS1, mutated in MKS. Live-cell imaging and interaction assays suggest a role for lebercilin in bidirectional intraflagellar transport (IFT). Meckelin is shown to interact with nesprin-2, a nuclear scaffold protein, with potential impacts on basal body positioning and non-canonical Wnt signalling. Studies of MKS1 clearly suggest that defects in the interaction between cilia proteins and the proteasome are associated with deregulation of Wnt signalling, which is causative of the ciliopathy disease state.This work will give insights into gene function and molecular mechanism of disease in complex genetic conditions. The understanding of ciliopathies at the molecular level may result in new therapeutic interventions for such conditions to modify disease progression
Laboratory protocols: CIMMYT applied molecular genetics laboratory
No full textThe primary motive for compiling and publishing this manual was to provide scientists, researchers, and students from national agricultural research systems, universities, and small private companies in developing countries, as well as advanced research institutions in the developed world, with a useful guide on the protocols currently in use in the Applied Molecular Genetics (AMG) Laboratory of CIMMYT’s Applied Biotechnology Center (a part of CIMMYT’s Genetics Resources Program). Now in its third edition, this manual incorporates the feedback and suggestions sent in by people who have used it in the past. Since the first edition of this manual was published, more than 1000 copies (of both the English and Spanish versions) have been distributed. Some of the technologies described here are very new; others are quite old. We have included the latter because, though they may be phased out in the future, they continue to be useful. But people who have older versions of the manual will notice we have eliminated se tions on obsolete protocols and have added others detailing new ones. The main protocols currently in use in CIMMYT’s AMG Lab have to do with molecular marker technology and can be used for mapping, molecular marker assisted selection, and studies on genetic diversity. Many can be applied well beyond maize and wheat, the main crops CIMMYT works with. The protocols included in this manual are used in CIMMYT’s AMG Lab; however, all labs have their own particular conditions. Therefore, the protocols should be optimized to fit the needs of each lab.vii, 81 page
Human molecular genetics / Tom Strachan and Andrew Read.
No full textRev. ed. of: Human molecular genetics 3 / Tom Strachan and Andrew Read. 3rd ed. c2004.Includes bibliographical references and indexes.Book fair 2013.xxv, 781 p. :Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded
Molecular genetics of sulphate assimilation
No full textThe importance of sulphur in promoting yield, quality and stress resistance parameters in plants has been highlighted by the recent increased problems of S-deficiency in agriculture. These deficiencies are in part a consequence of reduced atmospheric emissions from industry and the subsequent decreased deposition on agricultural land. Contributions from several laboratories, worldwide, have resulted in the cloning of almost all of the genes responsible for uptake, transport and assimilation of sulphate. This has led directly to the resolution of many outstanding questions regarding the control of uptake and of the pathways and intermediates involved in assimilation. Furthermore, the ability to manipulate these pathways is now possible and will allow the engineering of crops with improved sulphur acquisition and utilization traits. This paper reviews the present status of the molecular genetics of sulphate assimilation in plants
Plant carotenoids: molecular genetics and regulation
Full text linkThe potential health benefits of carotenoids as anti-cancer and antioxidant agents have recently been demonstrated. In particular, lycopene and ß-carotene have lately been shown to be able to reduce the risk of chronic conditions of coronary heart disease, certain cancers and macular degeneration. The findings have led to rapid development in the field aimed at understanding the biosynthetic pathway and ultimately engineering the carotenoid content. This article reviews the recent progress made in the areas of molecular genetics and genetic engineering of plant carotenoids. The latest development in the regulatory mechanisms controlling the pathway is also highlighted. Finally, this review also highlights some recent progress made in oil palm carotenoid research, especially the molecular cloning of genes encoding key enzymes of the biosynthetic pathway and efforts to improve oil palm carotenoid content
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors
Full text linkPurpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has not yet been any formal evaluation of the merging of these disciplines and the challenges faced by Program Directors (PDs) tasked with ensuring the successful training of laboratory geneticists under the new model. Methods: An electronic multi-question Qualtrics survey was created and was sent to the PD for each of the Accreditation Council for Graduate Medical Education–accredited LGG fellowship programs at the time. The data were collected, and the responses were aggregated for each question. Results: All of the responding PDs had started training at least 1 LGG fellow. PDs noted challenges with funding, staff shortages, molecular/cytogenetics content integration, limited total training time, increased remote work, increased sendout testing, and a lack of prior cytogenetics knowledge among incoming fellows. Conclusion: This survey attempted to assess the challenges that LGG PDs have been facing in offering and integrating clinical molecular genetics and clinical cytogenetics fellowship training. Common challenges between programs were noted, and a set of 6 concluding comments are provided to facilitate future discussion
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