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Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations
2019
The Application of Clinical Genetics
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effects of variation in other genetic loci, of polygenic inheritance and of environmental risk factors. ...
The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative GLA mutation along a complex pathophysiologic ...
The Application of Clinical Genetics 2019:12
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The Application of Clinical Genetics downloaded from https://www.dovepress.com/ by ...
doi:10.2147/tacg.s146022
pmid:30881085
pmcid:PMC6407513
fatcat:vvbntxbv3fbbxiy2owi6b7p33a
Genetic variants associated with Crohn's disease
2013
The Application of Clinical Genetics
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The study of genetic variants associated with Crohn's disease has shed light on our understanding of disease pathophysiology. ...
This review will discuss the recent advance in our knowledge of genetic variants of this disease and how they influence the disease course and prognosis. ...
Application of Clinical Genetics downloaded from https://www.dovepress.com/ by 207.241.231.81 on 28-Apr-2019 For personal use only. ...
doi:10.2147/tacg.s33966
pmid:23935379
pmcid:PMC3735034
fatcat:qwrql2tv4nhnnis4hlgn4mxxgm
Applications of the PMO platform to genetic diseases
2015
Orphanet Journal of Rare Diseases
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Correspondence: RKole@Sarepta.com Sarepta Therapeutics, Cambridge, MA 02142, USA Kole Orphanet Journal of Rare Diseases 2015, 10(Suppl 2):O34 http://www.ojrd.com/content/10/S2/O34 ...
• Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit this article as: Kole: Applications of the PMO platform to genetic diseases. ...
Genetic diseases are caused by a variety of mutations some of which lead to aberrant splicing of pre-mRNA and prevent proper mRNA translation of essential proteins or lead to translation of undesirable ...
doi:10.1186/1750-1172-10-s2-o34
pmcid:PMC4652482
fatcat:szynovr6qvdsxb5uszdwwquorq
Applicability of Yeast Genetics to Neurologic Disease
2000
Archives of Neurology
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The real strength of yeast in studying human disease is in genetic analysis of gene function and in providing genetically powerful functional assays. ...
In spite of the absence of a nervous system in yeast, yeast genetics has contributed substantial insight into neurologic diseases mechanisms. ...
RELEVANCE TO THE PRACTICE OF NEUROLOGY AND APPLICATIONS
Synthetic Functional Assays of Human Genes in Yeast When screening for disease-associated mutations, direct gene sequencing does not distinguish ...
doi:10.1001/archneur.57.8.1129
pmid:10927792
fatcat:m62bfo72fbgcldi7wmm5he5ewq
Application of CRISPR genetic screens to investigate neurological diseases
2019
Molecular Neurodegeneration
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However, applications of this technology to neurological diseases remain scarce. ...
We will highlight groundbreaking studies in the CRISPR-Cas9 functional genetics field and discuss strengths and limitations of this technology for neurological disease applications. ...
Acknowledgements Not applicable. Author's contributions All authors contributed equally to this work and approved the final manuscript. ...
doi:10.1186/s13024-019-0343-3
pmid:31727120
pmcid:PMC6857349
fatcat:4jkhv2nbqfcffebuhvesxnixgm
Transmembrane emp24 domain proteins in development and disease
2019
Genetics Research
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This review focuses on the role of the p24/transmembrane emp24 domain (TMED) family of cargo receptors in development and disease. ...
Disruptions in this process impact cell fate, differentiation and survival, often resulting in abnormalities in morphogenesis and in disease. ...
ER = endoplasmic reticulum; n/a = not applicable. ...
doi:10.1017/s0016672319000090
pmid:31878985
pmcid:PMC7045115
fatcat:53gescn3crfeti2c2z7dpdouu4
Genetics of Disease Resistance in Chicken
[chapter]
2018
Application of Genetics and Genomics in Poultry Science
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Also, understanding the genes and biological pathways that confer genetic resistance to various infections will lead towards the development of more resistant commercial poultry flocks or improved vaccines ...
These diseases include viral diseases like Avian Influenza, Marek's Disease, New Castle disease and bacterial diseases like Colibacillosis, Pasteurellosis and Salmonellosis, etc. ...
These genetic variations may be exploited to study the diseases resistance levels in different organisms. ...
doi:10.5772/intechopen.77088
fatcat:x2olbnar7bar5dmxviols2r6sa
Genetic contribution and associated pathophysiology in end-stage renal disease
2010
The Application of Clinical Genetics
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End-stage renal disease (ESRD) or chronic kidney disease (CKD) is the terminal state of the kidney when its function has been permanently and irreversibly damaged. ...
Genetic approaches have been used to identify genes that contribute to genetic susceptibility. ...
The Application of Clinical Genetics downloaded from https://www.dovepress.com/ by 207.241.231.83 on 20-Jul-2018 For personal use only.end-stage renal disease the amino or N domain and the carboxy or C ...
doi:10.2147/tacg.s7330
fatcat:hot2xnjg4jbaflnaxk5t2eojei
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression
2011
The Application of Clinical Genetics
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Parkinson's disease can be caused by rare familial genetic mutations, but in most cases it is likely to result from an interaction between multiple genetic and environmental risk factors. ...
The Application of Clinical Genetics
Publish your work in this journal Submit your manuscript here: http://www.dovepress.com/the-application-of-clinical-genetics-journal The Application of Clinical Genetics ...
Specific topics include: Population genetics; Functional genetics; Natural history of genetic disease; Management of genetic disease; Mechanisms of genetic disease; Counselling and ethical issues; Animal ...
doi:10.2147/tacg.s11639
pmid:23776368
pmcid:PMC3681179
fatcat:577gcjui5vddph5dsg4c2piusi
Breaking TADs: How Alterations of Chromatin Domains Result in Disease
2016
Trends in Genetics
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We discuss how the disruption of these structures by genomic rearrangements can result in gene misexpression and disease. ...
In this nonrandom organization, topologically associating domains (TADs) emerge as a fundamental structural unit that is thought to guide regulatory elements to their cognate promoters. ...
Top panel
Trends in Genetics, April 2016, Vol. 32, No. 4
Trends in Genetics, April 2016, Vol. 32, No. 4
Trends in Genetics, April 2016, Vol. 32, No. 4
Trends in Genetics, April 2016 ...
doi:10.1016/j.tig.2016.01.003
pmid:26862051
fatcat:yfo4ccek7bhwhgdukqov5wp2au
Genetic contribution and associated pathophysiology in end-stage renal disease
2010
The Application of Clinical Genetics
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End-stage renal disease (ESRD) or chronic kidney disease (CKD) is the terminal state of the kidney when its function has been permanently and irreversibly damaged. ...
Genetic approaches have been used to identify genes that contribute to genetic susceptibility. ...
The Application of Clinical Genetics
Publish your work in this journal Submit your manuscript here: http://www.dovepress.com/the-application-of-clinical-genetics-journal The Application of Clinical Genetics ...
pmid:23776353
pmcid:PMC3681165
fatcat:ehtcgrso6nd7bakxobekrfnvui
How (Epi)Genetic Regulation of the LIM-Domain Protein FHL2 Impacts Multifactorial Disease
2021
Cells
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diseases. ...
Four and a half LIM domains 2 (FHL2) is a key regulator of intracellular signal transduction pathways and the FHL2 gene is consistently found as one of the top hyper-methylated genes upon aging. ...
Institutional Review Board Statement: Not applicable. Informed Consent Statement: Not applicable. Data Availability Statement: Not applicable.
Table 1 . 1 FHL2 SNPs and associated traits. ...
doi:10.3390/cells10102611
pmid:34685595
pmcid:PMC8534169
fatcat:6hzzinpfife6ha2eqymnl54moe
Splicing modulation therapy in the treatment of genetic diseases
2014
The Application of Clinical Genetics
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this approach toward clinical application for as many rare genetic diseases as possible. ...
Specific topics include: Population genetics; Functional genetics; Natural history of genetic disease; Management of genetic disease; Mechanisms of genetic disease; Counseling and ethical issues; Animal ...
doi:10.2147/tacg.s71506
pmid:25506237
pmcid:PMC4259397
fatcat:uhyauoeaizbf7dhwkkf37eiasq
Gene Editing and Genetic Lung Disease. Basic Research Meets Therapeutic Application
2017
American Journal of Respiratory Cell and Molecular Biology
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Although our understanding of the genetics and pathology of congenital lung diseases such as surfactant protein deficiency, cystic fibrosis, and alpha-1 antitrypsin deficiency is extensive, treatment options ...
Potential pulmonary applications of CRISPR/Cas9 gene editing include gene correction of monogenic diseases in pre-or postnatal lungs and ex vivo gene editing of patient-specific airway stem cells followed ...
Cas9 consists of two domains, the N-terminal RuvC-like nuclease domain and the HNHlike nuclease domain; each binds to the opposite sides of the DNA at the desired location to create a DSB. ...
doi:10.1165/rcmb.2016-0301ps
pmid:27780343
pmcid:PMC5359541
fatcat:ez7ytcugibfbnbndm4wzpfp2c4
Moyamoya disease and syndromes: from genetics to clinical management
2015
The Application of Clinical Genetics
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Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/ MTCP1 and GUCY1A3 genes. ...
Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. ...
prevalence
Frequency of MMA/
cerebral angiopathy
in the disease
Characteristics of the
cerebral angiopathy
Hallmark symptoms of the disease
The Application of Clinical Genetics downloaded ...
doi:10.2147/tacg.s42772
pmid:25733922
pmcid:PMC4337618
fatcat:srrxsil3mncz3hhvjcqvj7543i
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