Log in

Relevant bibliographies by topics / Complex and Mendelian Human Genetic / Journal articles

To see the other types of publications on this topic, follow the link: Complex and Mendelian Human Genetic.

Journal articles on the topic 'Complex and Mendelian Human Genetic'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Complex and Mendelian Human Genetic.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Tukker, Anke M., Charmaine D. Royal, Aaron B. Bowman, and Kimberly A. McAllister. "The Impact of Environmental Factors on Monogenic Mendelian Diseases." Toxicological Sciences 181, no. 1 (2021): 3–12. http://dx.doi.org/10.1093/toxsci/kfab022.

Full text

Abstract:

Abstract Environmental factors and gene-environment interactions modify the variable expressivity, progression, severity, and onset of some classic (monogenic) Mendelian-inherited genetic diseases. Cystic fibrosis, Huntington disease, Parkinson’s disease, and sickle cell disease are examples of well-known Mendelian disorders that are influenced by exogenous exposures. Environmental factors may act by direct or indirect mechanisms to modify disease severity, timing, and presentation, including through epigenomic influences, protein misfolding, miRNA alterations, transporter activity, and mitoch

APA, Harvard, Vancouver, ISO, and other styles

2

Hershberger, Ray E., Jason Cowan, Elizabeth Jordan, and Daniel D. Kinnamon. "The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy." Circulation Research 128, no. 10 (2021): 1514–32. http://dx.doi.org/10.1161/circresaha.121.318157.

Full text

Abstract:

Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked locus and allelic heterogeneity. While DCM exhibits a Mendelian, monogenic architecture in some families, preliminary data from our studies and others suggests that at least 20% to 30% of DCM may have an oligogenic basis, meaning that multiple rare variants from different, unlinked loci, determine the DCM phenotype. It is also likely that low-frequency and common genetic variation contribute to DCM complexity, but neith

APA, Harvard, Vancouver, ISO, and other styles

3

Loftin, Madelene, Kelly East, Adam Hott, and Neil Lamb. "“Touching Triton”:." American Biology Teacher 78, no. 1 (2016): 15–21. http://dx.doi.org/10.1525/abt.2016.78.1.15.

Full text

Abstract:

Life science classrooms often emphasize the exception to the rule when it comes to teaching genetics, focusing heavily on rare single-gene and Mendelian traits. By contrast, the vast majority of human traits and diseases are caused by more complicated interactions between genetic and environmental factors. Research indicates that students have a deterministic view of genetics, generalize Mendelian inheritance patterns to all traits, and have unrealistic expectations of genetic technologies. The challenge lies in how to help students analyze complex disease risk with a lack of curriculum materi

APA, Harvard, Vancouver, ISO, and other styles

4

Zhang, David, Sebastian Guelfi, Sonia Garcia-Ruiz, et al. "Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders." Science Advances 6, no. 24 (2020): eaay8299. http://dx.doi.org/10.1126/sciadv.aay8299.

Full text

Abstract:

Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. We connect this unannotated transcription to known genes, confirming that human gene annotation remains incomplete, even among well-studied genes including 63% of the Online Mendelian Inheritance in Man–morbid catalog and 317 neurodegeneration-associated genes. We find the greatest abundance

APA, Harvard, Vancouver, ISO, and other styles

5

Carr, Fiona J., Martin W. McBride, Hilary V. O. Carswell, et al. "Genetic Aspects of Stroke: Human and Experimental Studies." Journal of Cerebral Blood Flow & Metabolism 22, no. 7 (2002): 767–73. http://dx.doi.org/10.1097/00004647-200207000-00001.

Full text

Abstract:

As one of the leading causes of death within both the developed and developing world, stroke is a worldwide problem. Risk factors can be identified and controlled at the level of lifestyle changes; however, genetic components of stroke have yet to be identified. The identification of such genetic components is critical in the understanding, diagnosis, and treatment of stroke in the future. This review focuses on the genetic determinants of stroke in both human and experimental systems. Mendelian disorders, candidate genes, and twin studies provide evidence for a strong genetic component of str

APA, Harvard, Vancouver, ISO, and other styles

6

Alcaïs, Alexandre, Claire Fieschi, Laurent Abel, and Jean-Laurent Casanova. "Tuberculosis in children and adults." Journal of Experimental Medicine 202, no. 12 (2005): 1617–21. http://dx.doi.org/10.1084/jem.20052302.

Full text

Abstract:

Disseminated disease in children and pulmonary disease in adults constitute two major epidemiological and clinical forms of tuberculosis. Paradoxically, only a small fraction of infected individuals develop clinical tuberculosis, typically one form of the disease or the other. Mendelian and complex genetic predispositions to tuberculosis were reported recently in children and adults, respectively. Here, we argue that tuberculosis and its clinical expression largely reflect the underlying human genetic background.

APA, Harvard, Vancouver, ISO, and other styles

7

Shotwell, Mark. "The Misuse of Pedigree Analysis in the Eugenics Movement." American Biology Teacher 83, no. 2 (2021): 80–88. http://dx.doi.org/10.1525/abt.2021.83.2.80.

Full text

Abstract:

Pedigree analysis has long been an essential tool in human genetics as well as a staple of genetics education. Students of genetics might be surprised to learn that human pedigrees were first popularized in the United States by proponents of eugenics, the pseudoscientific social movement aimed at improving the genetic quality of the human race. Notably, the influential eugenicist Charles B. Davenport employed pedigree charts to support his belief that not only were such medical conditions as Huntington disease and albinism inherited in a simple Mendelian fashion, but so too were such character

APA, Harvard, Vancouver, ISO, and other styles

8

Cherry, Timothy J., Marty G. Yang, David A. Harmin, et al. "Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease." Proceedings of the National Academy of Sciences 117, no. 16 (2020): 9001–12. http://dx.doi.org/10.1073/pnas.1922501117.

Full text

Abstract:

The interplay of transcription factors and cis-regulatory elements (CREs) orchestrates the dynamic and diverse genetic programs that assemble the human central nervous system (CNS) during development and maintain its function throughout life. Genetic variation within CREs plays a central role in phenotypic variation in complex traits including the risk of developing disease. We took advantage of the retina, a well-characterized region of the CNS known to be affected by pathogenic variants in CREs, to establish a roadmap for characterizing regulatory variation in the human CNS. This comprehensi

APA, Harvard, Vancouver, ISO, and other styles

9

Dean, Michael. "Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders." Human Mutation 22, no. 4 (2003): 261–74. http://dx.doi.org/10.1002/humu.10259.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

O'Neal, Wanda K., and Michael R. Knowles. "Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease." Annual Review of Genomics and Human Genetics 19, no. 1 (2018): 201–22. http://dx.doi.org/10.1146/annurev-genom-083117-021329.

Full text

Abstract:

In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human Mendelian genetic success story. From recognition of the condition as a heritable pathological entity to implementation of personalized treatments based on genetic findings, this multistep pathway of progress has focused on the genetic underpinnings of CF clinical disease. Along this path was the recognition that not all CFTR gene mutations produce the same disease and the recognition of the complex, multifactorial nature of CF genotype–phenotype relationships. The non- CFTR genetic components (gene modif

APA, Harvard, Vancouver, ISO, and other styles

11

Matveeva, Natalia, Boris Titov, Elizabeth Bazyleva, Alexander Pevzner, and Olga Favorova. "Towards Understanding the Genetic Nature of Vasovagal Syncope." International Journal of Molecular Sciences 22, no. 19 (2021): 10316. http://dx.doi.org/10.3390/ijms221910316.

Full text

Abstract:

Syncope, defined as a transient loss of consciousness caused by transient global cerebral hypoperfusion, affects 30–40% of humans during their lifetime. Vasovagal syncope (VVS) is the most common cause of syncope, the etiology of which is still unclear. This review summarizes data on the genetics of VVS, describing the inheritance pattern of the disorder, candidate gene association studies and genome-wide studies. According to this evidence, VVS is a complex disorder, which can be caused by the interplay between genetic factors, whose contribution varies from monogenic Mendelian inheritance to

APA, Harvard, Vancouver, ISO, and other styles

12

Hart, T. C., M. L. Marazita, and J. T. Wright. "The Impact of Molecular Genetics on Oral Health Paradigms." Critical Reviews in Oral Biology & Medicine 11, no. 1 (2000): 26–56. http://dx.doi.org/10.1177/10454411000110010201.

Full text

Abstract:

As a result of our increased understanding of the human genome, and the functional interrelationships of gene products with each other and with the environment, it is becoming increasingly evident that many human diseases are influenced by heritable alterations in the structure or function of genes. Significant advances in research methods and newly emerging partnerships between private and public sector interests are creating new possibilities for utilization of genetic information for the diagnosis and treatment of human diseases. The availability and application of genetic information to th

APA, Harvard, Vancouver, ISO, and other styles

13

Zhang-James, Yanli, Noèlia Fernàndez-Castillo, Jonathan L. Hess, et al. "An integrated analysis of genes and functional pathways for aggression in human and rodent models." Molecular Psychiatry 24, no. 11 (2018): 1655–67. http://dx.doi.org/10.1038/s41380-018-0068-7.

Full text

Abstract:

Abstract Human genome-wide association studies (GWAS), transcriptome analyses of animal models, and candidate gene studies have advanced our understanding of the genetic architecture of aggressive behaviors. However, each of these methods presents unique limitations. To generate a more confident and comprehensive view of the complex genetics underlying aggression, we undertook an integrated, cross-species approach. We focused on human and rodent models to derive eight gene lists from three main categories of genetic evidence: two sets of genes identified in GWAS studies, four sets implicated b

APA, Harvard, Vancouver, ISO, and other styles

14

Stamou, M. I., K. H. Cox, and William F. Crowley. "Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era." Endocrine Reviews 36, no. 6 (2015): 603–21. http://dx.doi.org/10.1210/er.2015-1045.

Full text

Abstract:

Abstract The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders tha

APA, Harvard, Vancouver, ISO, and other styles

15

Stamou, M. I., K. H. Cox, and William F. Crowley. "Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era." Endocrine Reviews 2016, no. 1 (2015): 4–22. http://dx.doi.org/10.1210/er.2015-1045.2016.1.

Full text

Abstract:

Abstract The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders tha

APA, Harvard, Vancouver, ISO, and other styles

16

Feldman, Marcus W., and Sohini Ramachandran. "Missing compared to what? Revisiting heritability, genes and culture." Philosophical Transactions of the Royal Society B: Biological Sciences 373, no. 1743 (2018): 20170064. http://dx.doi.org/10.1098/rstb.2017.0064.

Full text

Abstract:

Standard models for the determination of phenotypes from genes are grounded in simple assumptions that are inherent in the modern evolutionary synthesis (MES), which was developed in the 1930s, 1940s and 1950s. The MES was framed in the context of Mendelian genetic transmission enhanced by the Fisherian view of the way discretely inherited genes determine continuously quantitative phenotypes. The statistical models that are used to estimate and interpret genetic contributions to human phenotypes—including behavioural traits—are constructed within the framework of the MES. Variance analysis con

APA, Harvard, Vancouver, ISO, and other styles

17

Franceschini, Nora, and Thu H. Le. "Genetics of hypertension: discoveries from the bench to human populations." American Journal of Physiology-Renal Physiology 306, no. 1 (2014): F1—F11. http://dx.doi.org/10.1152/ajprenal.00334.2013.

Full text

Abstract:

Hypertension is a complex trait that is influenced by both heritable and environmental factors. The search for genes accounting for the susceptibility to hypertension has driven parallel efforts in human research and in research using experimental animals in controlled environmental settings. Evidence from rodent models of genetic hypertension and human Mendelian forms of hypertension and hypotension have yielded mechanistic insights into the pathways that are perturbed in blood pressure homeostasis, most of which converge at the level of renal sodium reabsorption. However, the bridging of evi

APA, Harvard, Vancouver, ISO, and other styles

18

Broberg, Martin, Johanna Hästbacka, and Emmi Helle. "From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects." Genes 12, no. 6 (2021): 921. http://dx.doi.org/10.3390/genes12060921.

Full text

Abstract:

Congenital heart defects (CHD) are developmental malformations affecting the heart and the great vessels. Early heart development requires temporally regulated crosstalk between multiple cell types, signaling pathways, and mechanical forces of early blood flow. While both genetic and environmental factors have been recognized to be involved, identifying causal genes in non-syndromic CHD has been difficult. While variants following Mendelian inheritance have been identified by linkage analysis in a few families with multiple affected members, the inheritance pattern in most familial cases is co

APA, Harvard, Vancouver, ISO, and other styles

19

Botstein, David, and Neil Risch. "Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease." Nature Genetics 33, S3 (2003): 228–37. http://dx.doi.org/10.1038/ng1090.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Hide, Takuichiro, Jun Hatakeyama, Chiharu Kimura-Yoshida, et al. "Genetic modifiers of otocephalic phenotypes inOtx2heterozygous mutant mice." Development 129, no. 18 (2002): 4347–57. http://dx.doi.org/10.1242/dev.129.18.4347.

Full text

Abstract:

Mice heterozygous for the Otx2 mutation display a craniofacial malformation, known as otocephaly or agnathia-holoprosencephaly complex. The severity of the phenotype is dependent on the genetic background of a C57BL/6 (B6) strain; most of the offspring of Otx2 knock-out chimeras, which are equivalent to the F1 of CBA and B6 strains, backcrossed with B6 females display reduction or loss of mandible, whereas those backcrossed with CBA females do not show noticeable phenotype at birth. The availability of phenotypically disparate strains renders identification of Otx2 modifier loci possible. In t

APA, Harvard, Vancouver, ISO, and other styles

21

Rahmani, E. S., Н. Azarpara, M. Karimipoor, and Н. Rahimi. "Whole exome analysis of primary immunodeficiency." Vavilov Journal of Genetics and Breeding 22, no. 5 (2018): 620–26. http://dx.doi.org/10.18699/vj18.403.

Full text

Abstract:

The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA seq

APA, Harvard, Vancouver, ISO, and other styles

22

Vieira, A. R. "Oral Clefts and Syndromic Forms of Tooth Agenesis as Models for Genetics of Isolated Tooth Agenesis." Journal of Dental Research 82, no. 3 (2003): 162–65. http://dx.doi.org/10.1177/154405910308200303.

Full text

Abstract:

Genetic defects responsible for tooth agenesis are only now beginning to be uncovered. MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. Mouse models also show that specific genes contribute to the development of specific types of teeth. A precise description of the phenotype specifying which teeth are missing has become fundamental. Mendelian segregation can be identified in families with tooth agenesis, but heterogenous or multiple genes may be responsible for the development of spe

APA, Harvard, Vancouver, ISO, and other styles

23

Spurdle, Amanda B., Stephanie Greville-Heygate, Antonis C. Antoniou, et al. "Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report." Journal of Medical Genetics 56, no. 6 (2019): 347–57. http://dx.doi.org/10.1136/jmedgenet-2018-105872.

Full text

Abstract:

The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease uses terms in common, but the meaning is not necessarily shared across all these contexts. In the setti

APA, Harvard, Vancouver, ISO, and other styles

24

Vernarelli, Jacqueline A. "Impact of genetic risk assessment on nutrition-related lifestyle behaviours." Proceedings of the Nutrition Society 72, no. 1 (2012): 153–59. http://dx.doi.org/10.1017/s0029665112002741.

Full text

Abstract:

Genetic susceptibility testing for common complex disease is a practice that is currently in clinical use. There are two types of gene mutations, and therefore, two varieties of genotype testing: deterministic and susceptibility. As the term suggests, deterministic genes determine whether or not a person will develop a given trait in Mendelian fashion, such as Huntington's disease. Genotype screening for such deterministic mutations has existed for decades, and is commonly used in routine medical practice. In recent years, the sequencing of the human genome has identified several ‘susceptibili

APA, Harvard, Vancouver, ISO, and other styles

25

Cordell, Heather J., John A. Todd, Natasha J. Hill, et al. "Statistical Modeling of Interlocus Interactions in a Complex Disease: Rejection of the Multiplicative Model of Epistasis in Type 1 Diabetes." Genetics 158, no. 1 (2001): 357–67. http://dx.doi.org/10.1093/genetics/158.1.357.

Full text

Abstract:

Abstract In general, common diseases do not follow a Mendelian inheritance pattern. To identify disease mechanisms and etiology, their genetic dissection may be assisted by evaluation of linkage in mouse models of human disease. Statistical modeling of multiple-locus linkage data from the nonobese diabetic (NOD) mouse model of type 1 diabetes has previously provided evidence for epistasis between alleles of several Idd (insulin-dependent diabetes) loci. The construction of NOD congenic strains containing selected segments of the diabetes-resistant strain genome allows analysis of the joint eff

APA, Harvard, Vancouver, ISO, and other styles

26

Noronha, Alberto, Jennifer Modamio, Yohan Jarosz, et al. "The Virtual Metabolic Human database: integrating human and gut microbiome metabolism with nutrition and disease." Nucleic Acids Research 47, no. D1 (2018): D614—D624. http://dx.doi.org/10.1093/nar/gky992.

Full text

Abstract:

Abstract A multitude of factors contribute to complex diseases and can be measured with ‘omics’ methods. Databases facilitate data interpretation for underlying mechanisms. Here, we describe the Virtual Metabolic Human (VMH, www.vmh.life) database encapsulating current knowledge of human metabolism within five interlinked resources ‘Human metabolism’, ‘Gut microbiome’, ‘Disease’, ‘Nutrition’, and ‘ReconMaps’. The VMH captures 5180 unique metabolites, 17 730 unique reactions, 3695 human genes, 255 Mendelian diseases, 818 microbes, 632 685 microbial genes and 8790 food items. The VMH’s unique fe

APA, Harvard, Vancouver, ISO, and other styles

27

Jeyakumar, Anita, and Jennifer Lentz. "The Genetic Basis of Hearing Loss: Recent Advances and Future Prospects." International Journal of Head and Neck Surgery 7, no. 2 (2016): 64–71. http://dx.doi.org/10.5005/jp-journals-10001-1267.

Full text

Abstract:

ABSTRACT Hearing loss (HL) is a common and complex condition that can occur at any age, be inherited or acquired, and is associated with a wide number of etiologies. HL is the most common sensory deficit in newborn children. In developed countries, genetic causes are considered the most frequent etiology of HL, and are estimated to account for 75% of the causes of HL. Current estimates suggest 1% of human genes (200–250 genes) are associated with genetic HL, and to date, more than 80 genes with over 1000 mutations and 140 loci have been identified associated with non-syndromic HL. The Online M

APA, Harvard, Vancouver, ISO, and other styles

28

Kirkwood, Sandra C., and Richard D. Hockett. "Pharmacogenomic Biomarkers." Disease Markers 18, no. 2 (2002): 63–71. http://dx.doi.org/10.1155/2002/341708.

Full text

Abstract:

Pharmacogenomic biomarkers hold great promise for the future of medicine and have been touted as a means to personalize prescriptions. Genetic biomarkers for disease susceptibility including both Mendelian and complex disease promise to result in improved understanding of the pathophysiology of disease, identification of new potential therapeutic targets, and improved molecular classification of disease. However essential to fulfilling the promise of individualized therapeutic intervention is the identification of drug activity biomarkers that stratify individuals based on likely response to a

APA, Harvard, Vancouver, ISO, and other styles

29

Tcheandjieu, Catherine, Matthew Aguirre, Stefan Gustafsson, et al. "A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population." PLOS Genetics 16, no. 11 (2020): e1008802. http://dx.doi.org/10.1371/journal.pgen.1008802.

Full text

Abstract:

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore the phenotypic expressivity of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) s

APA, Harvard, Vancouver, ISO, and other styles

30

Kutelev, G. G., A. B. Krivoruchko, A. E. Trandina, et al. "New approaches to the selection of genetic markers associated with multifactorial phenotypic traits." Bulletin of the Russian Military Medical Academy 22, no. 2 (2020): 204–10. http://dx.doi.org/10.17816/brmma50074.

Full text

Abstract:

Modern approaches to searching for associations between the studied phenotype and structural variations of the human genome are analyzed. Most complex phenotypic traits, including diseases, do not follow the laws of Mendelian inheritance, but have a multi-factor nature, that is, a significant contribution to their development is made by the genetic component in combination with the influence of environmental factors. In General, there are several approaches to the design of a limited set of polymorphic markers for point genotyping. Selection of individual molecular genetic markers is carried o

APA, Harvard, Vancouver, ISO, and other styles

31

Louca, Panayiotis, Cristina Menni, and Sandosh Padmanabhan. "Genomic Determinants of Hypertension With a Focus on Metabolomics and the Gut Microbiome." American Journal of Hypertension 33, no. 6 (2020): 473–81. http://dx.doi.org/10.1093/ajh/hpaa022.

Full text

Abstract:

Abstract Epidemiologic and genomic studies have progressively improved our understanding of the causation of hypertension and the complex relationship with diet and environment. The majority of Mendelian forms of syndromic hypotension and hypertension (HTN) have all been linked to mutations in genes whose encoded proteins regulate salt–water balance in the kidney, supporting the primacy of the kidneys in blood pressure regulation. There are more than 1,477 single nucleotide polymorphisms associated with blood pressure and hypertension and the challenge is establishing a causal role for these v

APA, Harvard, Vancouver, ISO, and other styles

32

Reiner, Benjamin C., Glenn A. Doyle, Andrew E. Weller, et al. "Restriction Enzyme Based Enriched L1Hs Sequencing (REBELseq): A Scalable Technique for Detection of Ta Subfamily L1Hs in the Human Genome." G3: Genes|Genomes|Genetics 10, no. 5 (2020): 1647–55. http://dx.doi.org/10.1534/g3.119.400613.

Full text

Abstract:

Long interspersed element-1 retrotransposons (LINE-1 or L1) are ∼6 kb mobile DNA elements implicated in the origins of many Mendelian and complex diseases. The actively retrotransposing L1s are mostly limited to the L1 human specific (L1Hs) transcriptional active (Ta) subfamily. In this manuscript, we present REBELseq as a method for the construction of Ta subfamily L1Hs-enriched next-generation sequencing libraries and bioinformatic identification. REBELseq was performed on DNA isolated from NeuN+ neuronal nuclei from postmortem brain samples of 177 individuals and empirically-driven bioinfor

APA, Harvard, Vancouver, ISO, and other styles

33

Erzurumluoglu, A. Mesut, Santiago Rodriguez, Hashem A. Shihab, et al. "Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process." BioMed Research International 2015 (2015): 1–16. http://dx.doi.org/10.1155/2015/923491.

Full text

Abstract:

Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to analyse the genetic basis of human disorders. Another point to consider that is although many possess “just enough” knowledge to analyse their data, they do not make full use of the tools a

APA, Harvard, Vancouver, ISO, and other styles

34

Stanfill, Ansley Grimes, and Athena Starlard-Davenport. "Primer in Genetics and Genomics, Article 7—Multifactorial Concepts: Gene–Gene Interactions." Biological Research For Nursing 20, no. 3 (2018): 359–64. http://dx.doi.org/10.1177/1099800418761098.

Full text

Abstract:

Most common disorders affecting human health are not attributable to simple Mendelian (single-gene) inheritance patterns. Rather, the risk of developing a complex disease is often the result of interactions across genes, whereby one gene modifies the phenotype of another gene. These types of interactions can occur between two or more genes and are referred to as epistasis. There are five major types of epistatic interactions, but in human genetics, additive epistasis is most often discussed and includes both positive and negative subtypes. Detecting epistatic interactions can be quite difficul

APA, Harvard, Vancouver, ISO, and other styles

35

Haston, Christina K., and Lap-Chee Tsui. "Loci of intestinal distress in cystic fibrosis knockout mice." Physiological Genomics 12, no. 2 (2003): 79–84. http://dx.doi.org/10.1152/physiolgenomics.00114.2002.

Full text

Abstract:

The strain-dependent survival of cystic fibrosis (CF) knockout mice has been used to map a modifier of CF, Cfm1, in mice and, subsequently, in humans. To identify additional modifiers of the CF phenotype, in this study, the survival of F2 CF mice derived from a cross between congenic C57BL/6J CF and BALB/cJ CF heterozygotes was followed up to 12 wk of age. A genome-wide linkage scan completed in F2 CF mice revealed a chromosome 10 locus ( P = 1.2 × 10−4) to predict for intestinal distress in CF male mice. An X chromosome locus for which non-Mendelian inheritance favoring B6 alleles in the surv

APA, Harvard, Vancouver, ISO, and other styles

36

Beaty, Terri H., Mary L. Marazita, and Elizabeth J. Leslie. "Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities." F1000Research 5 (November 30, 2016): 2800. http://dx.doi.org/10.12688/f1000research.9503.1.

Full text

Abstract:

Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influenci

APA, Harvard, Vancouver, ISO, and other styles

37

Templeton, Alan R. "The Complexity of the Genotype-Phenotype Relationship and the Limitations of Using Genetic “Markers” at the Individual Level." Science in Context 11, no. 3-4 (1998): 373–89. http://dx.doi.org/10.1017/s0269889700003082.

Full text

Abstract:

The ArgumentMany associations have recently been discovered between phenotypic variation and genetic loci, causing some to advocate what Robert Sinsheimer has called “a new eugenics” that would treat genetic “defects” in individuals prone to a disease. The first premise of this vision is that genetic association studies reveal the biological cause of the phenotypic variation. Once the responsible genes are known, the second premise is that we should focus upon changing “nature” rather than “nurture” by correcting the “defective” genes.The first premise is flawed because associations between ge

APA, Harvard, Vancouver, ISO, and other styles

38

Vernes, Sonja C., and Simon E. Fisher. "Unravelling neurogenetic networks implicated in developmental language disorders." Biochemical Society Transactions 37, no. 6 (2009): 1263–69. http://dx.doi.org/10.1042/bst0371263.

Full text

Abstract:

Childhood syndromes disturbing language development are common and display high degrees of heritability. In most cases, the underlying genetic architecture is likely to be complex, involving multiple chromosomal loci and substantial heterogeneity, which makes it difficult to track down the crucial genomic risk factors. Investigation of rare Mendelian phenotypes offers a complementary route for unravelling key neurogenetic pathways. The value of this approach is illustrated by the discovery that heterozygous FOXP2 (where FOX is forkhead box) mutations cause an unusual monogenic disorder, charac

APA, Harvard, Vancouver, ISO, and other styles

39

Onda, Hiroaki, Cynthia L. Smith, Donna L. Burkart, et al. "Which Hemochromatosis Mouse Model Is Best for You?: Accessing Information about Mouse Mutant Phenotypes and Their Human Disease Associations." Blood 106, no. 11 (2005): 3734. http://dx.doi.org/10.1182/blood.v106.11.3734.3734.

Full text

Abstract:

Abstract The mouse is the premier model organism in human disease research because all of its life stages are accessible and there are myriad experimental tools for comparative analysis and specific manipulation of its genome. The Mouse Genome Informatics Database (MGI, http://www.informatics.jax.org) supports biological knowledge building for the laboratory mouse by integrating and providing access to a wide range of data from DNA sequence to phenotype and disease associations. The integration of complex disease phenotypes, underlying genetic causes, and gene function information can be used

APA, Harvard, Vancouver, ISO, and other styles

40

Pott, Janne, Yoon Ju Bae, Katrin Horn, et al. "Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease." Journal of Clinical Endocrinology & Metabolism 104, no. 11 (2019): 5008–23. http://dx.doi.org/10.1210/jc.2019-00757.

Full text

Abstract:

Abstract Context Steroid hormones are important regulators of physiological processes in humans and are under genetic control. A link to coronary artery disease (CAD) is supposed. Objective Our main objective was to identify genetic loci influencing steroid hormone levels. As a secondary aim, we searched for causal effects of steroid hormones on CAD. Design We conducted genome-wide meta-association studies for eight steroid hormones: cortisol, dehydroepiandrosterone sulfate (DHEAS), estradiol, and testosterone in two independent cohorts (LIFE-Adult, LIFE-Heart, maximum n = 7667), and progester

APA, Harvard, Vancouver, ISO, and other styles

41

Castori, Marco. "Deconstructing and reconstructing joint hypermobility on an evo-devo perspective." Rheumatology 60, no. 6 (2021): 2537–44. http://dx.doi.org/10.1093/rheumatology/keab196.

Full text

Abstract:

Abstract Joint hypermobility is a common characteristic in humans. Its non-casual association with various musculoskeletal complaints is known and currently defined “the spectrum”. It includes hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). hEDS is recognized by a set of descriptive criteria, while HSD is the background diagnosis for individuals not fulfilling these criteria. Little is known about the aetiopathogenesis of the spectrum. It may be interpreted as a complex trait according to the integration model. Particularly, the spectrum is common in the g

APA, Harvard, Vancouver, ISO, and other styles

42

Everett, Lesley, Rami Khoriaty, and David Ginsburg. "Analysis of Additional Targeted Lman1 Alleles in the Mouse Suggests a Dose Dependence for FV/FVIII Secretion and Novel Role for an LMAN1-Dependent Cargo in Thrombopoiesis." Blood 124, no. 21 (2014): 103. http://dx.doi.org/10.1182/blood.v124.21.103.103.

Full text

Abstract:

Combined deficiency of coagulation factors V and VIII (F5F8D) is a human autosomal recessive bleeding disorder caused by mutations in LMAN1 or MCFD2, which encode the components of the only known cargo-receptor complex in the mammalian secretory pathway. The LMAN1/MCFD2 complex facilitates secretion of coagulation factors V (FV) and VIII (FVIII) to the plasma. F5F8D patients exhibit FV and FVIII levels that are ~10-15% of normal. The relationship between Lman1 expression levels and the corresponding secretion of LMAN1-dependent cargos has not been characterized, and additional functions of LMA

APA, Harvard, Vancouver, ISO, and other styles

43

Li, Geqiang, Zhengqi Wang, Yi Zhang, Eleonora Haviernikova, William Tse, and Kevin D. Bunting. "Physiologically Significant Genetic Interaction between STAT5 and Gab2 during Normal and Pathologic Hematopoiesis." Blood 110, no. 11 (2007): 87. http://dx.doi.org/10.1182/blood.v110.11.87.87.

Full text

Abstract:

Abstract Signal transducer and activator of transcription-5 (STAT5) is critical for normal hematopoiesis and its dysregulated activation is associated with hematologic disease in mice and humans. Recently, a constitutively active mutant of STAT5 (STAT5aS711F, also called STAT5a*6) was shown to bind a cytosolic Gab2 complex leading to increased Akt activation. We have also found that co-transfection of erythropoietin (EPO) receptor along with STAT5a or STAT5a*6 in 293T cells leads to STAT5/Gab2 physical interaction in response to EPO. However, the physiological significance in vivo is not known

APA, Harvard, Vancouver, ISO, and other styles

44

Colley, Emily, Susan Hamilton, Paul Smith, Neil V. Morgan, Arri Coomarasamy, and Stephanie Allen. "Potential genetic causes of miscarriage in euploid pregnancies: a systematic review." Human Reproduction Update 25, no. 4 (2019): 452–72. http://dx.doi.org/10.1093/humupd/dmz015.

Full text

Abstract:

Abstract BACKGROUND Approximately 50% of pregnancy losses are caused by chromosomal abnormalities, such as aneuploidy. The remainder has an apparent euploid karyotype, but it is plausible that there are cases of pregnancy loss with other genetic aberrations that are not currently routinely detected. Studies investigating the use of exome sequencing and chromosomal microarrays in structurally abnormal pregnancies and developmental disorders have demonstrated their clinical application and/or potential utility in these groups of patients. Similarly, there have been several studies that have soug

APA, Harvard, Vancouver, ISO, and other styles

45

Kobren, Shilpa Nadimpalli, and Mona Singh. "Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positions." Nucleic Acids Research 47, no. 2 (2018): 582–93. http://dx.doi.org/10.1093/nar/gky1224.

Full text

Abstract:

Abstract Domains are fundamental subunits of proteins, and while they play major roles in facilitating protein–DNA, protein–RNA and other protein–ligand interactions, a systematic assessment of their various interaction modes is still lacking. A comprehensive resource identifying positions within domains that tend to interact with nucleic acids, small molecules and other ligands would expand our knowledge of domain functionality as well as aid in detecting ligand-binding sites within structurally uncharacterized proteins. Here, we introduce an approach to identify per-domain-position interacti

APA, Harvard, Vancouver, ISO, and other styles

46

Wenderski, Wendy, Lu Wang, Andrey Krokhotin, et al. "Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism." Proceedings of the National Academy of Sciences 117, no. 18 (2020): 10055–66. http://dx.doi.org/10.1073/pnas.1908238117.

Full text

Abstract:

Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such “early activation” genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit ACTL6B (originally named BAF53b). Accordingly, ACTL6B was the most significantly mutated gene in the Si

APA, Harvard, Vancouver, ISO, and other styles

47

Carouge, Delphine, Valerie Blanc, Sue E. Knoblaugh, Robert J. Hunter, Nicholas O. Davidson, and Joseph H. Nadeau. "Parent-of-origin effects of A1CF and AGO2 on testicular germ-cell tumors, testicular abnormalities, and fertilization bias." Proceedings of the National Academy of Sciences 113, no. 37 (2016): E5425—E5433. http://dx.doi.org/10.1073/pnas.1604773113.

Full text

Abstract:

Testicular tumors, the most common cancer in young men, arise from abnormalities in germ cells during fetal development. Unconventional inheritance for testicular germ cell tumor (TGCT) risk both in humans and mice implicates epigenetic mechanisms. Apolipoprotein B mRNA-editing enzyme complex 1 (APOBEC1) cytidine deaminase and Deadend-1, which are involved in C-to-U RNA editing and microRNA-dependent mRNA silencing, respectively, are potent epigenetic modifiers of TGCT susceptibility in the genetically predisposed 129/Sv inbred mouse strain. Here, we show that partial loss of either APOBEC1 co

APA, Harvard, Vancouver, ISO, and other styles

48

Osum, Sara, Anat Stemmer-Rachamimov, Brigitte Widemann, et al. "TMOD-23. PRECLINICAL DRUG EVALUATION IN A GENETICALLY ENGINEERED MINIPIG MODEL OF NEUROFIBROMATOSIS TYPE 1." Neuro-Oncology 21, Supplement_6 (2019): vi267. http://dx.doi.org/10.1093/neuonc/noz175.1122.

Full text

Abstract:

Abstract We have employed gene-editing technology to create a Neurofibromatosis Type 1 (NF1) minipig that replicates the broad spectrum of disease that develops in NF1 patients and meets the National Institute of Health’s diagnostic criteria for NF1. The NF1 boars are fertile and the NF1 mutant allele is transmitted at a Mendelian rate with no reduction in fitness of offspring that inherit this allele. To date, we have observed 100% penetrance of café au lait macules, a phenotype that occurs in nearly every NF1 patient, but has never been demonstrated in any other animal model. The NF1 minipig

APA, Harvard, Vancouver, ISO, and other styles

49

Baz, Betoul, Tarek Owaidah, Majed Dasouki, Mohammed Abouelhoda, Dorota Monies, and Nada Al Tassan. "Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing." Blood 134, Supplement_1 (2019): 5776. http://dx.doi.org/10.1182/blood-2019-122370.

Full text

Abstract:

Decision making in the public healthcare system is heavily invested in screening and preventative medicine in addition to the translation of national initiatives that help in implementing precision medicine. Molecular testing for cancers and inherited disorders helps families, patients and healthcare providers in disease management. Different genome programs and genetics initiatives around the world are contributing and providing data to help decision makers, pharmaceutical companies and other health related commercial entities to tailor diagnosis and treatment in a healthcare era that honors

APA, Harvard, Vancouver, ISO, and other styles

50

Coetzee, Gerhard A. "Understanding Non-Mendelian Genetic Risk." Current Genomics 20, no. 5 (2019): 322–24. http://dx.doi.org/10.2174/1389202920666191018085511.

Full text

Abstract:

This opinion paper highlights strategies for a better understanding of non-Mendelian genetic risk that was revealed by genome-wide association studies (GWAS) of complex diseases. The genetic risk resides predominantly in non-coding regulatory DNA, such as in enhancers. The identification of mechanisms, the causal variants (mainly SNPs), and their target genes are, however, not always apparent but are likely involved in a network of risk determinants; the identification presents a bottle-neck in the full understanding of the genetics of complex phenotypes. Here, we propose strategies to identif

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!