Genomes and Genes
Summary: The transmission of traits encoded in GENES from parent to offspring.
- Stylianou I, Bauer R, Reilly M, Rader D. Genetic basis of atherosclerosis: insights from mice and humans. Circ Res. 2012;110:337-55 pubmed publisher..The combination of mouse and human genetics has the potential to identify and validate novel genes that influence atherosclerosis, some of which may be candidates for new therapeutic approaches. ..
- Ayode D, McBride C, De Heer H, Watanabe E, Gebreyesus T, Tadele G, et al. The association of beliefs about heredity with preventive and interpersonal behaviors in communities affected by podoconiosis in rural Ethiopia. Am J Trop Med Hyg. 2012;87:623-30 pubmed publisherLittle is known about how beliefs about heredity as a cause of health conditions might influence preventive and interpersonal behaviors among those individuals with low genetic and health literacy...
- Gertz J, Varley K, Reddy T, Bowling K, Pauli F, Parker S, et al. Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. PLoS Genet. 2011;7:e1002228 pubmed publisher..Overall, our results demonstrate that the influence of genotype on patterns of DNA methylation is widespread in the genome and greatly exceeds the influence of imprinting on genome-wide methylation patterns. ..
- Kiani J, Grandjean V, Liebers R, Tuorto F, Ghanbarian H, Lyko F, et al. RNA-mediated epigenetic heredity requires the cytosine methyltransferase Dnmt2. PLoS Genet. 2013;9:e1003498 pubmed publisherRNA-mediated transmission of phenotypes is an important way to explain non-Mendelian heredity. We have previously shown that small non-coding RNAs can induce hereditary epigenetic variations in mice and act as the transgenerational ..
- Tomita H, Zhilicheva S, Kim S, Maeda N. Aortic arch curvature and atherosclerosis have overlapping quantitative trait loci in a cross between 129S6/SvEvTac and C57BL/6J apolipoprotein E-null mice. Circ Res. 2010;106:1052-60 pubmed publisher..6) and a suggestive QTL on chromosome 15 (76 Mb, LOD=3.5). The overlapping QTLs for curvature of the aortic arch and atherosclerosis support that the ontogeny of the aortic arch formation is a potential risk factor for atherosclerosis. ..
- Anderson R, Penn J. Environmental light and heredity are associated with adaptive changes in retinal DHA levels that affect retinal function. Lipids. 2004;39:1121-4 pubmed
- Freedman B, Volkova N, Satko S, Krisher J, Jurkovitz C, Soucie J, et al. Population-based screening for family history of end-stage renal disease among incident dialysis patients. Am J Nephrol. 2005;25:529-35 pubmed..Physicians caring for patients with CKD should be aware of the marked familial aggregation of ESRD and consider focusing screening efforts on high-risk family members in an attempt to slow the exponential growth rate of kidney disease. ..
- Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H. Heredity in multiple system atrophy. J Neurol Sci. 2006;240:107-10 pubmed..The results indicated that one of them had a family history of MSA. Although the familial presence of neurodegenerative disorders is rare in MSA patients, the existence of such cases suggests that MSA may have a genetic background. ..
- Jass J. Heredity and DNA methylation in colorectal cancer. Gut. 2007;56:154-5 pubmed
- Yu J, Pressoir G, Briggs W, Vroh Bi I, Yamasaki M, Doebley J, et al. A unified mixed-model method for association mapping that accounts for multiple levels of relatedness. Nat Genet. 2006;38:203-8 pubmed..As this new method crosses the boundary between family-based and structured association samples, it provides a powerful complement to currently available methods for association mapping. ..
- Rassoulzadegan M, Grandjean V, Gounon P, Vincent S, Gillot I, Cuzin F. RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. Nature. 2006;441:469-74 pubmed..Our results identify an unexpected mode of epigenetic inheritance associated with the zygotic transfer of RNA molecules. ..
- McCarty M. Discovering genes are made of DNA. Nature. 2003;421:406 pubmed..This preceded by a decade the discovery of the structure of DNA itself. Here he shares his personal perspective of those times and the impact of the double helix. ..
- Nordfjäll K, Larefalk A, Lindgren P, Holmberg D, Roos G. Telomere length and heredity: Indications of paternal inheritance. Proc Natl Acad Sci U S A. 2005;102:16374-8 pubmed..The mode of heredity has not been clarified, but a link to the X chromosome was recently suggested...
- Matilainen V, Laakso M, Hirsso P, Koskela P, Rajala U, Keinanen Kiukaanniemi S. Hair loss, insulin resistance, and heredity in middle-aged women. A population-based study. J Cardiovasc Risk. 2003;10:227-31 pubmed..Paternal history of alopecia seemed to be more common in female AGA compared to women with normal or minimal loss of hair. ..
- Tomobe K, Nomura Y. Neurochemistry, neuropathology, and heredity in SAMP8: a mouse model of senescence. Neurochem Res. 2009;34:660-9 pubmed publisher..The rise in oxidative stress following mitochondrial dysfunction may trigger neuropathological and neurochemical changes, disrupting the development of neural networks in the brain in SAMP8. ..
- Prusiner S, McCarty M. Discovering DNA encodes heredity and prions are infectious proteins. Annu Rev Genet. 2006;40:25-45 pubmedThe resemblance between the discoveries that DNA is the basis of heredity and that prions are infectious proteins is remarkable...
- Soini H, Moilanen J, Finnila S, Majamaa K. Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus. BMC Res Notes. 2012;5:350 pubmed publisher..Mildly deleterious nonsynonymous mtDNA variants and rare population-specific haplotypes constitute genetic risk factors for maternally inherited diabetes. ..
- Ajala O, Fr Meaux A, Hosking J, Metcalf B, Jeffery A, Voss L, et al. The relationship of height and body fat to gender-assortative weight gain in children. A longitudinal cohort study (EarlyBird 44). Int J Pediatr Obes. 2011;6:223-8 pubmed publisher..The secular trend in height among contemporary children may simply reflect their rising body fat. Excess fat is unhealthy, so the trend in height may not be healthy either. ..
- Crepin M, Dieu M, Lejeune S, Escande F, Boidin D, Porchet N, et al. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat. 2012;33:180-8 pubmed publisher..These findings may have important implications for future diagnostic strategies and genetic counseling. ..
- Antony H, Wiegmans A, Wei M, Chernoff Y, Khanna K, Munn A. Potential roles for prions and protein-only inheritance in cancer. Cancer Metastasis Rev. 2012;31:1-19 pubmed publisher..Here, we highlight evidence in the literature for an involvement of prion or prion-like mechanisms in cancer and how they may in the future be viewed as diagnostic markers and potential therapeutic targets. ..
- Demeester K, van Wieringen A, Hendrickx J, Topsakal V, Huyghe J, Fransen E, et al. Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population. Hear Res. 2010;265:1-10 pubmed publisher..size), Uniform Hearing Loss (percentage of frequency-dependent hearing loss) and Bulge Depth suggest a higher heredity for severe types of presbycusis compared to moderate or mild types...
- Kim C, Chang H, Cho I, Sung J, Choi D, Jeong M, et al. Impact of family history on the presentation and clinical outcomes of coronary heart disease: data from the Korea Acute Myocardial Infarction Registry. Korean J Intern Med. 2013;28:547-56 pubmed publisher..008). FHx may be an independent prognostic predictor, especially in female patients and patients with low-risk profile. ..
- Bowman M, Tuttle A, Notley C, Brown C, Tinlin S, Deforest M, et al. The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles. J Thromb Haemost. 2013;11:512-20 pubmed publisher..Obligate carriers are not phenotypically silent in the Canadian population; 48% have been diagnosed with type 1 VWD. In approximately 50% of families in this study the inheritance pattern for type 3 VWD is co-dominant and not recessive. ..
- Penasa M, Cecchinato A, Dal Zotto R, Blair H, Lopez Villalobos N, Bittante G. Direct and maternal genetic effects for body weight and price of calves sold for veal production. J Anim Sci. 2012;90:3385-91 pubmed publisher..As calf price is routinely collected at auctions and shows genetic variation, it can be genetically improved. ..
- Turkowski K, Tester D, Bos J, Haugaa K, Ackerman M. Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy. Congenit Heart Dis. 2017;12:226-235 pubmed publisher..Herein, it is demonstrated that genetic mutations in CDH2-encoded N-cadherin may represent a novel pathogenetic basis for ACM in humans. The prevalence of CDH2-mediated ACM in heretofore genetically elusive ACM remains to be determined. ..
- Liu K, Chen G, Ma Y, Xian Y, Zhang Z. Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia. Pak J Pharm Sci. 2016;29:1109-11 pubmed..Ile190Tyrfs*13) was considered as a kind of new gene mutation. After being treated with vitamin B12 and levocamitine, the clinical symptoms and organic acid content of hematuresis of this child patient had taken a turn for the better. ..
- López Beltrán C. Exploring heredity: diachronic and synchronic connections. Hist Philos Life Sci. 2013;35:45-50 pubmed..that Hans-Jörg Rheinberger has made to our understanding of the history of modern views of biological heredity is provided...
- Birt J, Taylor K, Davis J, Sharpe Timms K. Developmental exposure of fetal ovaries and fetal germ cells to endometriosis in an endometriosis model causes differential gene expression in the preimplantation embryos of the first-generation and second-generation embryos. Fertil Steril. 2013;100:1436-43 pubmed publisher
- Roef G, Taes Y, Toye K, Goemaere S, Fiers T, Verstraete A, et al. Heredity and lifestyle in the determination of between-subject variation in thyroid hormone levels in euthyroid men. Eur J Endocrinol. 2013;169:835-44 pubmed publisher..Nevertheless, these SNPs only explain a limited part of the heredity. As to age and lifestyle-related factors, (F)T3 was negatively related to age and education level, positively to ..
- Rice T, Sarzynski M, Sung Y, Argyropoulos G, Stütz A, Teran Garcia M, et al. Fine mapping of a QTL on chromosome 13 for submaximal exercise capacity training response: the HERITAGE Family Study. Eur J Appl Physiol. 2012;112:2969-78 pubmed publisher..Submaximal exercise at 60% of maximal capacity is an exercise intensity that falls well within the range recommended in the Physical Activity Guidelines for Americans and thus has potential public health relevance. ..
- Stadler P, Prohaska S, Forst C, Krakauer D. Defining genes: a computational framework. Theory Biosci. 2009;128:165-70 pubmed publisher..The definition seeks to satisfy the practical requirements imposed by annotation, capture logical aspects of regulation, and encompass the evolutionary property of homology. ..
- Ramesh R, Chen H, Kukula A, Wakeling E, Rustin M, McLean W. Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations. J Dermatol Sci. 2011;64:159-62 pubmed publisher..This is the second reported case of the modifying effects of FLG null alleles on XLI and strengthens the hypothesis that filaggrin defects can synergize with STS deficiency to exacerbate the ichthyosis phenotype. ..
- Sankaran S, Naot D, Grey A, Cundy T. Paget's disease in patients of Asian descent in New Zealand. J Bone Miner Res. 2012;27:223-6 pubmed publisher..It also implies that the apparent reduction in Paget's disease prevalence in western cities is unlikely to be explicable by the rising Asian population of these cities. ..
- Castaman G, Giacomelli S, Mancuso M, D Andrea G, Santacroce R, Sanna S, et al. Deep intronic variations may cause mild hemophilia A. J Thromb Haemost. 2011;9:1541-8 pubmed publisher..F8 mRNA analysis is a useful tool for the identification of deep intronic variation not detectable by standard DNA sequencing. ..
- Augustyn A, Agostino N, Namey T, Nair S, Martino M. Two patients with germline mutations in both BRCA1 and BRCA2 discovered unintentionally: a case series and discussion of BRCA testing modalities. Breast Cancer Res Treat. 2011;129:629-34 pubmed publisher..The implications of missing a second mutation are discussed. ..
- The Modern Evolutionary Synthesis formalizes the role of variation, heredity, differential reproduction and mutation in population genetics...
- Broomfield A, Chakrapani A, Wraith J. The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?. J Inherit Metab Dis. 2010;33 Suppl 3:S123-7 pubmed publisher..Their clinical, radiological and developmental outcomes are documented and compared with the previous published cases, with the case for early transplantation being weighted against other potential therapies. ..
- ..O. and co-author R. J. Wood published Genetic Prehistory in Selective Breeding: A Prelude to Mendel. (Biography from Margaret H. Peaslee). ..
- Dong C, Beecham A, Wang L, Blanton S, Rundek T, Sacco R. Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis. 2012;223:177-83 pubmed publisher..Further studies with in-depth re-sequencing are needed to uncover both rare and common functional variants that contribute to the susceptibility to atherosclerosis. ..
- Liu X, Francis R, Kim A, Ramirez R, Chen G, SUBRAMANIAN R, et al. Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen. Circ Cardiovasc Imaging. 2014;7:31-42 pubmed publisher..Our findings support a genetic pathogenesis for a wide spectrum of CHDs and suggest that the disruption of left-right patterning may play an important role in CHD. ..
- Infante M, Duran M, Lasa A, Acedo A, de la Hoya M, Esteban Cardeñosa E, et al. Two founder BRCA2 mutations predispose to breast cancer in young women. Breast Cancer Res Treat. 2010;122:567-71 pubmed publisher..4 years, P = 0.033; 9538delAA: 39.4 years, P = 0.008). The identification of founder effects improves the genetic screening strategy to be followed and facilitates the clinical management of asymptomatic carriers. ..
- Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, et al. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. J Inherit Metab Dis. 2010;33 Suppl 3:S91-4 pubmed publisher..Genomic analysis revealed mutation c.1189C >G in exon 12 of the ACAT1 gene, which results in a severe defect because of the p.H397D amino acid change in both alleles of both patients. ..
- Corvin A. Neuronal cell adhesion genes: Key players in risk for schizophrenia, bipolar disorder and other neurodevelopmental brain disorders?. Cell Adh Migr. 2010;4:511-4 pubmed
- Nyman T, Mulder M, Iliadou A, Svartengren M, Wiktorin C. High heritability for concurrent low back and neck-shoulder pain: a study of twins. Spine (Phila Pa 1976). 2011;36:E1469-76 pubmed publisher..Genetic factors had a considerably greater importance for the occurrence of concurrent LBP and NSP compared with solely LBP or solely NSP. The influence of genetic factors was similar for solely LBP and solely NSP. ..
- Horn T, Robertson B, Will M, Eason D, Elliott G, Gemmell N. Inheritance of telomere length in a bird. PLoS ONE. 2011;6:e17199 pubmed publisher..These results argue against an effect of sex hormones on telomere length and suggest that factors associated with heterogamy may play a role in telomere inheritance and sex-specific differences in telomere length...
- Noll M, Tarragô Candotti C, Vieira A, Fagundes Loss J. Back pain and body posture evaluation instrument (BackPEI): development, content validation and reproducibility. Int J Public Health. 2013;58:565-72 pubmed publisher..251) and the responses were highly correlated (ICC = 0.937) for these two tests. The BackPEI constitutes a valid and reproducible instrument which is relevant for the evaluation of back pain and its associated risk factors. ..
- Hou X, Li Y, Li J, Wang W, Fan C, Wang H, et al. Development of thyroid dysfunction and autoantibodies in Graves' multiplex families: an eight-year follow-up study in Chinese Han pedigrees. Thyroid. 2011;21:1353-8 pubmed publisher..Although smoking was negatively associated with the presence of thyroid antibodies (TPOAb/TgAb), smoking may induce or aggravate GD. ..
- Swerdlow N, Shilling P, Breier M, Trim R, Light G, Marie R. Fronto-temporal-mesolimbic gene expression and heritable differences in amphetamine-disrupted sensorimotor gating in rats. Psychopharmacology (Berl). 2012;224:349-62 pubmed publisher..Rat strains differing in a schizophrenia-linked phenotype also differ in expression levels of genes associated both with that phenotype, and with schizophrenia, within brain regions associated with that phenotype and schizophrenia. ..