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Journal articles on the topic 'Genes, Modifier'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 February 2022

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1

Marian, A. J. "Modifier genes for hypertrophic cardiomyopathy." Current Opinion in Cardiology 17, no. 3 (May 2002): 242–52. http://dx.doi.org/10.1097/00001573-200205000-00006.

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2

Vincent, Andrea L. "Editorial. Searching for modifier genes." Clinical and Experimental Ophthalmology 31, no. 5 (October 2003): 374–75. http://dx.doi.org/10.1046/j.1442-9071.2003.00682.x.

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3

Agarwal, Sarita, and Nikhil Moorchung. "Modifier Genes and Oligogenic Disease." Journal of Nippon Medical School 72, no. 6 (2005): 326–34. http://dx.doi.org/10.1272/jnms.72.326.

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4

Davies, Jane C. "Modifier genes in cystic fibrosis." Pediatric Pulmonology 37, S26 (2004): 86–87. http://dx.doi.org/10.1002/ppul.70062.

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5

Davies, J. C., U. Griesenbach, and Eric Alton. "Modifier genes in cystic fibrosis." Pediatric Pulmonology 39, no. 5 (May 2005): 383–91. http://dx.doi.org/10.1002/ppul.20198.

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6

Rutledge, B. J., M. A. Mortin, E. Schwarz, D. Thierry-Mieg, and M. Meselson. "Genetic interactions of modifier genes and modifiable alleles in Drosophila melanogaster." Genetics 119, no. 2 (June 1, 1988): 391–97. http://dx.doi.org/10.1093/genetics/119.2.391.

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Abstract We have examined the effects of mutations in the six allele-specific modifier genes su(Hw), e(we), su(f), su(s), su(wa), and su(pr) on the expression of 18 modifiable alleles, situated at 11 loci. Ten of the modifiable alleles are associated with insertions of the gypsy retrotransposon and the others include alleles associated with insertions of copia and 412. We tested or retested 90 of the 108 possible combinations and examined the expression of modifiable alleles in flies mutant for pairs of modifier genes in various heterozygous and homozygous configurations. Our principal findings are: (1) a screen of 40,000 mutagenized X chromosomes yielded three new mutations in known modifier genes, but revealed no new modifier genes; (2) the modification effects of different mutations in a given modifier gene were qualitatively similar; (3) each of the six modifiers suppressed some modifiable alleles, enhanced others, and had no noticeable effect on still others; (4) the modifier genes could be placed in four classes, according to their effects on the gypsy-insertion alleles; and (5) the effects of mutations in different modifier genes combined additively. Implications of these results for models of modifier gene action are discussed.
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7

Scott, Rodney J. "Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes." European Journal of Human Genetics 16, no. 5 (February 27, 2008): 531–32. http://dx.doi.org/10.1038/ejhg.2008.46.

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8

Altenberg, Lee, and Marcus W. Feldman. "Selection, Generalized Transmission and the Evolution of Modifier Genes. I. The Reduction Principle." Genetics 117, no. 3 (November 1, 1987): 559–72. http://dx.doi.org/10.1093/genetics/117.3.559.

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ABSTRACT Modifier gene models are used to explore the evolution of features of organisms, such as the genetic system, that are not directly involved in the determination of fitness. Recent work has shown that a general "reduction principle" holds in models of selectively neutral modifiers of recombination, mutation, and migration. Here we present a framework for models of modifier genes that shows these reduction results to be part of a more general theory, for which recombination and mutation are special cases.—The deterministic forces that affect the genetic composition of a population can be partitioned into two categories: selection and transmission. Selection includes differential viabilities, fertilities, and mating success. Imperfect transmission occurs as a result of such phenomena as recombination, mutation and migration, meiosis, gene conversion, and meiotic drive. Selectively neutral modifier genes affect transmission, and a neutral modifier gene can evolve only by generating association with selected genes whose transmission it affects.–We show that, in randomly mating populations at equilibrium, imperfect transmission of selected genes allows a variance in their marginal fitnesses to be maintained. This variance in the marginal fitnesses of selected genes is what drives the evolution of neutral modifier genes. Populations with a variance in marginal fitnesses at equilibrium are always subject to invasion by modifier genes that bring about perfect transmission of the selected genes. It is also found, within certain constraints, that for modifier genes producing what we call "linear variation" in the transmission processes, a new modifier allele can invade a population at equilibrium if it reduces the level of imperfect transmission acting on the selected genes, and will be expelled if it increases the level of imperfect transmission. Moreover, the strength of the induced selection on the modifier gene is shown to range up to the order of the departure of the genetic system from perfect transmission.
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9

Friedman, Thomas, James Battey, Bechara Kachar, Sheikh Riazuddin, Konrad Noben-Trauth, Andrew Griffith, and Edward Wilcox. "Modifier genes of hereditary hearing loss." Current Opinion in Neurobiology 10, no. 4 (August 2000): 487–93. http://dx.doi.org/10.1016/s0959-4388(00)00120-3.

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10

Chen, Yuanjian, Fuyi Xu, Undral Munkhsaikhan, Charlie Boyle, Theresa Borcky, Wenyuan Zhao, Enkhsaikhan Purevjav, et al. "Identifying modifier genes for hypertrophic cardiomyopathy." Journal of Molecular and Cellular Cardiology 144 (July 2020): 119–26. http://dx.doi.org/10.1016/j.yjmcc.2020.05.006.

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11

Nadeau, Joseph H. "Modifier genes in mice and humans." Nature Reviews Genetics 2, no. 3 (March 2001): 165–74. http://dx.doi.org/10.1038/35056009.

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12

Accurso, Frank J., and Marci K. Sontag. "Seeking Modifier Genes in Cystic Fibrosis." American Journal of Respiratory and Critical Care Medicine 167, no. 3 (February 2003): 289–90. http://dx.doi.org/10.1164/rccm.2210006.

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13

Steinberg, Martin H., and Adeboye H. Adewoye. "Modifier genes and sickle cell anemia." Current Opinion in Hematology 13, no. 3 (May 2006): 131–36. http://dx.doi.org/10.1097/01.moh.0000219656.50291.73.

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14

Hou, Jing, Guihong Tan, Gerald R. Fink, Brenda J. Andrews, and Charles Boone. "Complex modifier landscape underlying genetic background effects." Proceedings of the National Academy of Sciences 116, no. 11 (February 25, 2019): 5045–54. http://dx.doi.org/10.1073/pnas.1820915116.

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The phenotypic consequence of a given mutation can be influenced by the genetic background. For example, conditional gene essentiality occurs when the loss of function of a gene causes lethality in one genetic background but not another. Between two individual Saccharomyces cerevisiae strains, S288c and Σ1278b, ∼1% of yeast genes were previously identified as “conditional essential.” Here, in addition to confirming that some conditional essential genes are modified by a nonchromosomal element, we show that most cases involve a complex set of genomic modifiers. From tetrad analysis of S288C/Σ1278b hybrid strains and whole-genome sequencing of viable hybrid spore progeny, we identified complex sets of multiple genomic regions underlying conditional essentiality. For a smaller subset of genes, including CYS3 and CYS4, each of which encodes components of the cysteine biosynthesis pathway, we observed a segregation pattern consistent with a single modifier associated with conditional essentiality. In natural yeast isolates, we found that the CYS3/CYS4 conditional essentiality can be caused by variation in two independent modifiers, MET1 and OPT1, each with roles associated with cellular cysteine physiology. Interestingly, the OPT1 allelic variation appears to have arisen independently from separate lineages, with rare allele frequencies below 0.5%. Thus, while conditional gene essentiality is usually driven by genetic interactions associated with complex modifier architectures, our analysis also highlights the role of functionally related, genetically independent, and rare variants.
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15

Viel, Marion, Chrystel Leroy, Dominique Hubert, Isabelle Fajac, and Thierry Bienvenu. "ENaCβ and γ genes as modifier genes in cystic fibrosis." Journal of Cystic Fibrosis 7, no. 1 (January 2008): 23–29. http://dx.doi.org/10.1016/j.jcf.2007.04.003.

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16

Woycinck Kowalski, Thayne, Larissa Brussa Reis, Tiago Finger Andreis, Patricia Ashton-Prolla, and Clévia Rosset. "Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1." Cancers 12, no. 9 (August 26, 2020): 2416. http://dx.doi.org/10.3390/cancers12092416.

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Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotype-modifier genes in extensively discussed in an attempt to explain this variability. Many datasets and tools are already available to explore the relationship between genetic variation and disease, including systems biology and expression data. To suggest potential NF1 modifier genes, we selected proteins related to NF1 phenotype and NF1 gene ontologies. Protein–protein interaction (PPI) networks were assembled, and network statistics were obtained by using forward and reverse genetics strategies. We also evaluated the heterogeneous networks comprising the phenotype ontologies selected, gene expression data, and the PPI network. Finally, the hypothesized phenotype-modifier genes were verified by a random-walk mathematical model. The network statistics analyses combined with the forward and reverse genetics strategies, and the assembly of heterogeneous networks, resulted in ten potential phenotype-modifier genes: AKT1, BRAF, EGFR, LIMK1, PAK1, PTEN, RAF1, SDC2, SMARCA4, and VCP. Mathematical models using the random-walk approach suggested SDC2 and VCP as the main candidate genes for phenotype-modifiers.
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17

MARCUZZI, ANNALISA, DIEGO VOZZI, MARTINA GIRARDELLI, PAOLA MAURA TRICARICO, ALESSANDRA KNOWLES, SERGIO CROVELLA, JOSEF VUCH, ALBERTO TOMMASINI, ELISA PISCIANZ, and ANNA MONICA BIANCO. "Putative modifier genes in mevalonate kinase deficiency." Molecular Medicine Reports 13, no. 4 (February 22, 2016): 3181–89. http://dx.doi.org/10.3892/mmr.2016.4918.

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18

Merlo, Christian A., and Michael P. Boyle. "Modifier genes in cystic fibrosis lung disease." Journal of Laboratory and Clinical Medicine 141, no. 4 (April 2003): 237–41. http://dx.doi.org/10.1067/mlc.2003.29.

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19

McCabe, Edward R. B. "Modifier genes: Moving from pathogenesis to therapy." Molecular Genetics and Metabolism 122, no. 1-2 (September 2017): 1–3. http://dx.doi.org/10.1016/j.ymgme.2017.05.018.

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20

Mukhopadhyay, Partha, Guy Brock, Cynthia Webb, M. Michele Pisano, and Robert M. Greene. "Strain-specific modifier genes governing craniofacial phenotypes." Birth Defects Research Part A: Clinical and Molecular Teratology 94, no. 3 (February 28, 2012): 162–75. http://dx.doi.org/10.1002/bdra.22890.

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21

Pirzada, Omar, and Christopher Taylor. "Modifier genes and cystic fibrosis liver disease." Hepatology 37, no. 3 (March 2003): 714. http://dx.doi.org/10.1053/jhep.2003.50079.

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22

Houlston, RS, and IPM Tomlinson. "Modifier genes in humans: strategies for identification." European Journal of Human Genetics 6, no. 1 (January 1998): 80–88. http://dx.doi.org/10.1038/sj.ejhg.5200156.

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23

Romeo, Giovanni, and Victor A. McKusick. "Phenotypic diversity, allelic series and modifier genes." Nature Genetics 7, no. 4 (August 1994): 451–53. http://dx.doi.org/10.1038/ng0894-451.

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24

Guillot, Loic, Julie Beucher, Olivier Tabary, Philippe Le Rouzic, Annick Clement, and Harriet Corvol. "Lung disease modifier genes in cystic fibrosis." International Journal of Biochemistry & Cell Biology 52 (July 2014): 83–93. http://dx.doi.org/10.1016/j.biocel.2014.02.011.

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25

Rao, B. J. "New challenges in human genetics: Modifier genes." Journal of Biosciences 26, no. 5 (December 2001): 547. http://dx.doi.org/10.1007/bf02704751.

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26

Park, J. E., R. Yung, D. Stefanowicz, K. Shumansky, L. Akhabir, P. R. Durie, M. Corey, et al. "Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection." Genes & Immunity 12, no. 5 (January 27, 2011): 370–77. http://dx.doi.org/10.1038/gene.2011.5.

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27

Wallace, Adam S. "Genetic interactions and modifier genes in Hirschsprung's disease." World Journal of Gastroenterology 17, no. 45 (2011): 4937. http://dx.doi.org/10.3748/wjg.v17.i45.4937.

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28

WESTRICK, R. J., and D. GINSBURG. "Modifier genes for disorders of thrombosis and hemostasis." Journal of Thrombosis and Haemostasis 7 (July 2009): 132–35. http://dx.doi.org/10.1111/j.1538-7836.2009.03362.x.

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29

Blondel, Marc. "Flirting with CFTR modifier genes at happy hour." Genome Medicine 4, no. 12 (2012): 98. http://dx.doi.org/10.1186/gm399.

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30

Debray, Dominique, Harriet Corvol, and Chantal Housset. "Modifier genes in cystic fibrosis-related liver disease." Current Opinion in Gastroenterology 35, no. 2 (March 2019): 88–92. http://dx.doi.org/10.1097/mog.0000000000000508.

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31

Bandiera, S., E. Hatem, S. Lyonnet, and A. Henrion-Caude. "microRNAs in diseases: from candidate to modifier genes." Clinical Genetics 77, no. 4 (April 2010): 306–13. http://dx.doi.org/10.1111/j.1399-0004.2010.01370.x.

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32

Boyle, M. P. "Strategies for Identifying Modifier Genes in Cystic Fibrosis." Proceedings of the American Thoracic Society 4, no. 1 (January 1, 2007): 52–57. http://dx.doi.org/10.1513/pats.200605-129jg.

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33

Sa, Qila, Erika Hart, Joseph H. Nadeau, and Jane L. Hoover-Plow. "Mouse chromosome 17 candidate modifier genes for thrombosis." Mammalian Genome 21, no. 7-8 (August 2010): 337–49. http://dx.doi.org/10.1007/s00335-010-9274-6.

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34

Winter, Scott F., and Kent W. Hunter. "Mouse Modifier Genes in Mammary Tumorigenesis and Metastasis." Journal of Mammary Gland Biology and Neoplasia 13, no. 3 (July 26, 2008): 337–42. http://dx.doi.org/10.1007/s10911-008-9089-1.

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35

Schellenberg, Gerald. "S5-03-06: C. Elegans in modifier genes." Alzheimer's & Dementia 2 (July 2006): S93. http://dx.doi.org/10.1016/j.jalz.2006.05.367.

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36

Rujito, Lantip, and Teguh Haryo Sasongko. "Genetic Background of β Thalassemia Modifier: Recent Update." Journal of Biomedicine and Translational Research 4, no. 1 (July 31, 2018): 12. http://dx.doi.org/10.14710/jbtr.v4i1.2541.

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Thalassemia has become major health problem among developing countries. Genetic background which contain enormous mutations and variations have lead in clinical problem differences.The genetic basis of thalassemia, beta specifically, is mutations of the gene encoding the β chain of the hemoglobin (Beta-Globin, HBB). However, today it is known that abnormalities in this gene do not necessarily determine the clinical appearance of β thalassemia patients.A set of genes has been found that can modify the primary β thalassemia disorder. Secondary modifier contains genes that have been associated with elevated levels of HbF and improvement ratio of α / β globin chain. The genes involved are HBA, HBG, BCL11A, HBS1L-MYB and other cofactor genes regulating erythropoiesis. Tertiary genetic modifier comes from other genes related to the disease severity including iron metabolism, redox activity, and clinical complications. The review aims to provide the latest updates regarding the known β Thalassemia modifier genes and some other genes involved in the changes of the clinical manifestations.
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37

Carter, Barrie J., Pervin Anklesaria, Stephanie Choi, and John F. Engelhardt. "Redox Modifier Genes and Pathways in Amyotrophic Lateral Sclerosis." Antioxidants & Redox Signaling 11, no. 7 (July 2009): 1569–86. http://dx.doi.org/10.1089/ars.2008.2414.

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38

Vo, Andy H., and Elizabeth M. McNally. "Modifier genes and their effect on Duchenne muscular dystrophy." Current Opinion in Neurology 28, no. 5 (October 2015): 528–34. http://dx.doi.org/10.1097/wco.0000000000000240.

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39

Nadeau, Joseph H. "Modifier genes and protective alleles in humans and mice." Current Opinion in Genetics & Development 13, no. 3 (June 2003): 290–95. http://dx.doi.org/10.1016/s0959-437x(03)00061-3.

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40

Marden, Jennifer J., Maged M. Harraz, Aislinn J. Williams, Kathryn Nelson, Meihui Luo, Henry Paulson, and John F. Engelhardt. "Redox modifier genes in amyotrophic lateral sclerosis in mice." Journal of Clinical Investigation 117, no. 10 (October 1, 2007): 2913–19. http://dx.doi.org/10.1172/jci31265.

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41

Rosen, Elliot D., Valerie A. Schroeder, Zhong Liang, and Mark Suckow. "Identification of Hemostatic Modifier Genes Rescuing FVII Deficient Mice." Blood 112, no. 11 (November 16, 2008): 3083. http://dx.doi.org/10.1182/blood.v112.11.3083.3083.

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Abstract FVIItta/− mice are heterozygous for the FVII- null allele and a gene-targeted allele expressing very low levels of FVII. These mice produce very low levels of FVII (<1.0 % of wt levels). FVII+/− and FVIItta/+ mice have each independently been backcrossed into a C57Bl/6 background (thus all the mice in the lineage have had at least 50% of wt FVII levels and there is no selection for compensation for low coagulant activity). The FVII− and FVIItta alleles have similarly been backcrossed extensively into a 129X1/svj background. The FVIItta/− mice were generated in both C57Bl/6 and 129X1/svj backgrounds by crossing FVII+/− and FVIItta/+ animals. In the C57Bl/6 background these low FVII mice suffer intrauterine or perinatal lethality. In contrast FVIItta/− mice generated in a 129X1/svj background survive much longer with 50% surviving more than 6 months. These results indicate there are significant strain differences in the phenotype of mice with a FVIItta/− genotype. To determine the genetic basis of these strain differences we have generated F1 FVIItta/− mice in a 50:50 C57Bl/6 and 129X1/svj background by crossing C57Bl/6J FVII+/tta and 129X1/svj FVII+/− parents. These mice survive long-term similar to FVIItta/− in a pure 129X1/svj background. F1 FVIItta/− males were backcrossed with C57Bl/6J FVII+/− females to generate F1B1 FVIItta/− males. Long-term surviving (>16 weeks) FVIItta/− males were selectively backcrossed with C57Bl/6J FVII+/− females to generate F1B2, F1B3 and then F1B4 FVIItta/− mice. Presumably, the survival of these FVIItta/− mice depends upon the retention of 129X1/svj derived chromosomal regions enabling the survival of low FVII mice. After 4 rounds of backcrossing, the F1B4 FVIItta/− mice retain ~3% of the 129X1/svj genome. DNA from 6 F1B3 FVIItta/− males and all their 81 F1B4 FVIItta/− offspring (total of 87 mice) have been genotyped with a Mouse MD Linkage panel (Illumina) containing 247 informative SNPs distinguishing between 129X1/svj and C57Bl/6J genomes. The initial scan identified 12 chromosomal regions enriched for 129X1/svj derived sequences. To identify putative hemostatic modifier genes, long-term surviving F1B4 low FVII mice have been selectively backcrossed and the DNA of their offspring analyzed with a high density SNP scan in the regions of interest.
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42

Dipple, Katrina M., and Edward R. B. McCabe. "Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits." Molecular Genetics and Metabolism 71, no. 1-2 (September 2000): 43–50. http://dx.doi.org/10.1006/mgme.2000.3052.

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43

Perdry, Hervé, Marie-Claude Babron, and Françoise Clerget-Darpoux. "The ordered transmission disequilibrium test: detection of modifier genes." Genetic Epidemiology 33, no. 1 (January 2009): 1–5. http://dx.doi.org/10.1002/gepi.20348.

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44

Alcaraz, Wendy A., Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, et al. "Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice." G3: Genes|Genomes|Genetics 10, no. 11 (September 23, 2020): 4241–47. http://dx.doi.org/10.1534/g3.120.401720.

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Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ciliopathies, including cerebellar vermis hypoplasia and other midline brain defects. Null mice have reduced viability in most strain backgrounds. Here we show complete lethality on a C57BL/6J background, dominant rescue in backcrosses to any of 13 partner strains, with strain-dependent survival frequencies, and evidence for a BALB/c-derived survival modifier locus on chromosome 5. Survival data indicate both perinatal and postnatal periods of lethality. Anatomical data from a hypomorphic gene trap allele observed on both C57BL/6J and BALB/c congenic backgrounds shows an aggregate effect of background on sensitivity to Zfp423 loss rather than a binary effect on viability.
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45

Génin, Emmanuelle, Josué Feingold, and Françoise Clerget-Darpoux. "Identifying modifier genes of monogenic disease: strategies and difficulties." Human Genetics 124, no. 4 (September 11, 2008): 357–68. http://dx.doi.org/10.1007/s00439-008-0560-2.

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46

Hmida-Ben Brahim, Dorra, Marwa Chourabi, Sana Ben Amor, Imed Harrabi, Saoussen Trabelsi, Marwa Haddaji-Mastouri, Moez Gribaa, et al. "Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes." Genetics Research International 2014 (September 1, 2014): 1–5. http://dx.doi.org/10.1155/2014/210418.

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Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.
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47

Sapienza, Carmen. "Sex-linked dosage-sensitive modifiers as imprinting genes." Development 108, Supplement (April 1, 1990): 107–13. http://dx.doi.org/10.1242/dev.108.supplement.107.

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It is proposed that differential genome imprinting is the result of dosage-sensitive modifier genes located on the sex chromosomes. Parallels between variegating position-effects in Drosophila, the phenotype elicited by transgenes in the mouse and data from several pediatric tumors indicate that the net result of the activity of such modifier genes is often cellular mosaicism in the expression of affected alleles. The mechanism by which inactivation of affected alleles is achieved is proposed to be through the formation of heterochromatic domains. Because the relevant sex-linked modifying loci are dosage sensitive in their activity, differential imprinting will occur even within homogeneous genetic backgrounds. The presence of allelic variants at these loci in non-inbred populations will give rise to variation in the observed expressivity and mode of inheritance of affected traits.
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48

Shavit, Jordan A., Heidi L. Lemmerhirt, and David Ginsburg. "Identifying Novel Modifier Genes Regulating von Willebrand Factor Levels in Mice." Blood 108, no. 11 (November 16, 2006): 175. http://dx.doi.org/10.1182/blood.v108.11.175.175.

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Abstract Plasma von Willebrand factor (VWF) levels are highly variable in the normal human population, and twin studies suggest that two-thirds of this variability is heritable. Only one-third of this genetic component is explained by ABO blood group, with the factors responsible for the majority of the effect still unknown. These putative VWF modifier genes contribute to the wide variability in bleeding severity among patients with von Willebrand disease (VWD), as well as the frequent difficulty in establishing this diagnosis. We previously mapped four loci responsible for variable plasma VWF levels among several inbred mouse strains, which we termed Mvwf1-4 (modifier of Vwf). We have identified the mutant alleles for Mvwf1, a variant in a glycosyltransferase with homology to a human blood group antigen, and Mvwf2, a mutation in the Vwf gene itself. For the current study we chose two inbred strains with 3.5-fold divergent VWF plasma levels, C57BL/6J and WSB/EiJ, neither of which carries the Mvwf1 or Mvwf2 alleles. F1 hybrid mice were backcrossed onto C57BL/6J to generate 200 N2 progeny, followed by determination of plasma VWF levels by ELISA. A dense genome scan of 149 markers, an average of one marker every 10 centimorgans, was performed on genomic DNA from all 200 N2 mice by the Mammalian Genotyping Service at the Marshfield Clinic Research Foundation. Analysis of the data with the R/qtl statistical package identified two major candidate loci with significant evidence for linkage to VWF levels. The first locus (Mvwf5) mapped to a region containing the Vwf gene itself on chromosome 6, with a logarithm of the odds (LOD) score of 12.1. Preliminary studies of Vwf mRNA from F1 mice by primer extension SNP (single nucleotide polymorphism) analysis suggest that Mvwf5 exerts its effect at the level of Vwf transcription or mRNA stability. A second potential modifier (Mvwf6) localized to chromosome 10 with a LOD score of 4.6, and displayed additive effects with Mvwf5. Two additional suggestive loci mapped to murine chromosomes 4 and 5, with LOD scores of 2.4 and 3.4, respectively. The former locus maps to the same region of chromosome 4 as Mvwf3, a candidate modifier previously identified in an F2 intercross between the strains A/J and CASA/RkJ. In summary, we have identified a 2nd natural Vwf gene variant among inbred mice (Mvwf5), a novel VWF regulatory locus on murine chromosome 10 (Mvwf6), and 2 other possible VWF modifiers on chromosomes 4 and 5. Surprisingly, two of six Mvwf loci characterized to date correspond to hypomorphic mutations at the Vwf gene itself and appear to interact with modifier loci on other chromosomes. Similar interactions are likely to explain the extensive variability in plasma VWF levels observed in the general human population as well as among patients with VWD.
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49

Bhadra, Utpal, Manika Pal-Bhadra, and James A. Birchler. "A Sex-Influenced Modifier in Drosophila That Affects a Broad Spectrum of Target Loci Including the Histone Repeats." Genetics 146, no. 3 (July 1, 1997): 903–17. http://dx.doi.org/10.1093/genetics/146.3.903.

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A second chromosomal trans-acting modifier, Lightener of white (Low), modulates the phenotypic expression of various alleles of the white eye color gene. This modifier has an unusually broad spectrum of affected genes including white, brown, scarlet and the eye developmental genes, Bar and Lobe. In addition, Low weakly suppresses position effect variegation. Northern blot hybridization with different X and autosomal probes reveals that Low modulates genes of independent expression patterns. Interestingly, many of the modulations of gene expression are developmentally restricted and differ in intensity between the sexes. Low also elevates the expression of the histone tandem repeats in three distinct developmental stages. A deficiency encompassing the histone cluster reduces their transcript levels and significantly alters the expression of some of the tested genes. Thus, Low is a modifier that plays a role in modulating the expression of genes governing various processes including pigment deposition, eye development, chromosomal proteins and position effect variegation.
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50

Fenster, Charles B., and Spencer C. H. Barrett. "Inheritance of mating-system modifier genes in Eichhornia paniculata (Pontederiaceae)." Heredity 72, no. 5 (May 1994): 433–45. http://dx.doi.org/10.1038/hdy.1994.62.

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