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Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

João Paulo Oliveira, Susana Ferreira
2019 The Application of Clinical Genetics  
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 submit your manuscript | www.dovepress.com Dovepress Dovepress 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

Sonia Michail, Bultron, William Depaolo
2013 The Application of Clinical Genetics  
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

Ryszard Kole
2015 Orphanet Journal of Rare Diseases  
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

Mark William Walberg
2000 Archives of Neurology  
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

Raphaella W. L. So, Sai Wai Chung, Heather H. C. Lau, Jeremy J. Watts, Erin Gaudette, Zaid A. M. Al-Azzawi, Jossana Bishay, Lilian Tsai-Wei Lin, Julia Joung, Xinzhu Wang, Gerold Schmitt-Ulms
2019 Molecular Neurodegeneration  
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

Rachel Aber, Wesley Chan, Sevane Mugisha, Loydie A. Jerome-Majewska
2019 Genetics Research  
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]

Mashooq Ahmad Dar, Peerzada Tajamul Mumtaz, Shakil Ahmad Bhat, Mudasar Nabi, Qamar Taban, Riaz Ahmad Shah, Hilal Musadiq Khan, Syed Mudasir Ahmad
2018 Application of Genetics and Genomics in Poultry Science  
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

Suraksha Agarwal
2010 The Application of Clinical Genetics  
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

Thomas Gasser
2011 The Application of Clinical Genetics  
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

Darío G. Lupiáñez, Malte Spielmann, Stefan Mundlos
2016 Trends in Genetics  
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

Suraksha Agrawal, Ss Agarwal, Sita Naik
2010 The Application of Clinical Genetics  
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

Jayron J. Habibe, Maria P. Clemente-Olivo, Carlie J. de Vries
2021 Cells  
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

Annemieke Aartsma-Rus, Virginia Arechavala-Gomeza, Bernard Khoo
2014 The Application of Clinical Genetics  
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

Deepthi Alapati, Edward E. Morrisey
2017 American Journal of Respiratory Cell and Molecular Biology  
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

Manoëlle Kossorotoff, Elisabeth Tournier-Lasserve, Dominique Herve, Stephanie Guey
2015 The Application of Clinical Genetics  
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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