8 results match your criteria Advances in genomics and genetics[Journal]

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Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Adv Genomics Genet 2018 27;8:17-21. Epub 2018 Jun 27.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Read More

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http://dx.doi.org/10.2147/AGG.S159077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057141PMC
June 2018
1 Read

Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.

Adv Genomics Genet 2017 23;7:1-9. Epub 2017 Feb 23.

Institute for Systems Biology, Seattle, WA, USA.

Lymphoblastoid cell lines (LCLs) represent a convenient research tool for expanding the amount of biologic material available from an individual. LCLs are commonly used as reference materials, most notably from the Genome in a Bottle Consortium. However, the question remains how faithfully LCL-derived genome assemblies represent the germline genome of the donor individual as compared to the genome assemblies derived from peripheral blood mononuclear cells. Read More

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http://dx.doi.org/10.2147/AGG.S128824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520659PMC
February 2017

Altered placental DNA methylation patterns associated with maternal smoking: current perspectives.

Adv Genomics Genet 2015 May;2015(5):205-214

Penn State Tobacco Center of Regulatory Science, College of Medicine, Department of Public Health Sciences, Hershey, PA, USA.

The developmental origins of health and disease hypothesis states that adverse early life exposures can have lasting, detrimental effects on lifelong health. Exposure to maternal cigarette smoking during pregnancy is associated with morbidity and mortality in offspring, including increased risks for miscarriage, stillbirth, low birth weight, preterm birth, asthma, obesity, altered neurobehavior, and other conditions. Maternal cigarette smoking during pregnancy interferes with placental growth and functioning, and it has been proposed that this may occur through the disruption of normal and necessary placental epigenetic patterns. Read More

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http://dx.doi.org/10.2147/AGG.S61518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507353PMC
May 2015
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Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.

Adv Genomics Genet 2015;2015(5):53-75

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, USA.

Obesity is accompanied by hyperphagia in several classical genetic obesity-related syndromes that are rare, including Prader-Willi syndrome (PWS) and Alström syndrome (ALMS). We compared coding and noncoding gene expression in adult males with PWS, ALMS, and nonsyndromic obesity relative to nonobese males using readily available lymphoblastoid cells to identify disease-specific molecular patterns and disturbed mechanisms in obesity. We found 231 genes upregulated in ALMS compared with nonobese males, but no genes were found to be upregulated in obese or PWS males and 124 genes were downregulated in ALMS. Read More

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http://dx.doi.org/10.2147/AGG.S74598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334166PMC
January 2015
4 Reads

From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.

Adv Genomics Genet 2015 12;5:239-255. Epub 2015 Jun 12.

National Human Genome Research Institute, National Institutes of Health, Bethesda MD, 20892 USA.

The phenotypic and behavioral diversity of the domestic dog has yet to be matched by any other mammalian species. In their current form, which comprises more than 350 populations known as breeds, there is a size range of two orders of magnitude and morphological features reminiscent of not only different species but also different phylogenetic families. The range of both appearance and behavior found in the dog is the product of millennia of human interference, and though humans created the diversity it remains a point of fascination to both lay and scientific communities. Read More

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http://dx.doi.org/10.2147/AGG.S57678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421102PMC
June 2015
11 Reads

Genetics and Epigenetics of Eating Disorders.

Adv Genomics Genet 2015;5:131-150. Epub 2015 Mar 10.

Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA; Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Eating disorders (EDs) are serious psychiatric conditions influenced by biological, psychological, and sociocultural factors. A better understanding of the genetics of these complex traits and the development of more sophisticated molecular biology tools have advanced our understanding of the etiology of EDs. The aim of this review is to critically evaluate the literature on the genetic research conducted on three major EDs: anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED). Read More

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http://dx.doi.org/10.2147/AGG.S55776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803116PMC
March 2015
2 Reads

A preliminary case study of androgen receptor gene polymorphism association with impulsivity in women with alcoholism.

Adv Genomics Genet 2014 Mar;4:5-13

Departments of Psychiatry and Behavioral Sciences and Pediatrics, MS 4015, Kansas University Medical Center, Kansas City, KS, USA.

Objective: The () gene, located on the X chromosome, contains a common polymorphism involving cytosine-adenine-guanine (CAG) repeats, which impacts disease and could contribute to the unequal sex ratio in alcoholism. CAG repeats in the gene are known to correlate with impulsivity in males. We report the first preliminary study examining the association between the number of CAG repeats and measures of impulsivity in females with chronic alcoholism. Read More

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http://dx.doi.org/10.2147/AGG.S57771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067054PMC
March 2014
9 Reads

The genomics and genetics of endometrial cancer.

Adv Genomics Genet 2012 Mar;2012(2):33-47

National Human Genome Research Institute, Cancer Genetics Branch, National Institutes of Health, Bethesda, MD, USA.

Most sporadic endometrial cancers (ECs) can be histologically classified as endometrioid, serous, or clear cell. Each histotype has a distinct natural history, clinical behavior, and genetic etiology. Endometrioid ECs have an overall favorable prognosis. Read More

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http://dx.doi.org/10.2147/AGG.S28953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415201PMC
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