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Response to Zaykin and Shibata

Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin
2008 American Journal of Human Genetics  
a similar claim as does the rejection of the hypothesis H 0 : m A 1 ¼ m A 2 ; yet, the variance contrast might be substantial when the usual mean difference is undetectable.  ...  Examples can be constructed where both the allele frequency of the observed variant as well as the population prevalence of the trait (M $ P) remain the same across populations, despite the flip-flop.  ... 
doi:10.1016/j.ajhg.2008.02.004 pmcid:PMC2427236 fatcat:6c2yvut5ozh6leuf2hsrcnhwku

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury

Lauren L. Vernon, Danica D. Vance, Liyong Wang, Evadnie Rampersaud, Jeffery M. Vance, Margaret Pericak-Vance, C.-Y. Charles Huang, Lee D. Kaplan
2015 Cartilage  
Objective. Normal physiological movement creates different weightbearing zones within a human knee: the medial condyle bearing the highest and the trochlea bearing the lowest weight. Adaptation to different physiological loading conditions results in different tissue and cellular properties within a knee. The objective of this study was to use microarray analysis to examine gene expression differences among three anatomical regions of human knee articular cartilage at baseline and following
more » ... ction of an acute impact injury. Design. Cartilage explants were harvested from 7 cadaveric knees (12 plugs per knee). A drop tower was utilized to introduce injury. Plugs were examined 24 hours after impact for gene expression using microarray. The primary analysis is the comparison of baseline versus impacted samples within each region separately. In addition, pairwise comparisons among the three regions were performed at baseline and after impact. False discovery rate (FDR) was used to evaluate significance of differential gene expression. Results. In the comparison of before and after injury, the trochlear had 130 differentially expressed genes (FDR ≤ 0.05) while the condyles had none. In the comparison among regions, smaller sets of differentially expressed genes (n ≤ 21) were found, with trochlea being more different than the condyles. Most of more frequently expressed genes in trochlea are developmental genes. Conclusions. Within the experimental setup of this study, only the trochlea was displaying an acute genetic response on injury. Our data demonstrated the regional-specific response to injury in human articular cartilage.
doi:10.1177/1947603515618483 pmid:27047639 pmcid:PMC4797239 fatcat:f6nfg7c3inbpborqxeazkct3pa

No Gene Is an Island: The Flip-Flop Phenomenon

Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin
2007 American Journal of Human Genetics  
An increasing number of publications are replicating a previously reported disease-marker association but with the risk allele reversed from the previous report. Do such "flip-flop" associations confirm or refute the previous association findings? We hypothesized that these associations may indeed be confirmations but that multilocus effects and variation in interlocus correlations contribute to this flip-flop phenomenon. We used theoretical modeling to demonstrate that flip-flop associations
more » ... n occur when the investigated variant is correlated, through interactive effects or linkage disequilibrium, with a causal variant at another locus, and we show how these findings could explain previous reports of flip-flop associations.
doi:10.1086/512133 pmid:17273975 pmcid:PMC1821115 fatcat:gljra6dlondlbnpdpc4j2u2wwu

Identification of MeCP2 mutations in a series of females with autistic disorder

Regina M. Carney, Chantelle M. Wolpert, Sarah A. Ravan, Mona Shahbazian, Allison Ashley-Koch, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance
2003 Pediatric Neurology  
Rett disorder and autistic disorder are both pervasive developmental disorders. Recent studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overlap between autistic disorder and Rett disorder, we analyzed 69 females clinically diagnosed with autistic disorder for the presence of mutations in the MeCP2 gene. Two autistic disorder females were found to have de novo mutations in the MeCP2
more » ... ene. These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder.
doi:10.1016/s0887-8994(02)00624-0 pmid:12770674 fatcat:2qobxx22cfdptoaupjaoyeep5m

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

Brooke A. DeRosa, Jessica M. Van Baaren, Gaurav K. Dubey, Joycelyn M. Lee, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance, Derek M. Dykxhoorn
2012 Neuroscience Letters  
One day before infection 0.5 μM thiazovivin and 10 μM Y27632 were added to the media and continually added thereafter.  ...  Starting 24 hours after transduction, 2mM valproic acid, 2 μM R(+)Bay K 86644, 1 μM BIX1294 were added to the medium for 8 days and 2 μg/mL doxycycline was added up to 5 weeks.  ... 
doi:10.1016/j.neulet.2012.02.086 pmid:22405972 pmcid:PMC4278654 fatcat:74c6xzk7hffq3kbwyg55gcaq3a

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

Stephan Züchner, Jeffery M. Vance
2006 Neuromolecular medicine  
Surprisingly, the motor NCVs were moderately to severely reduced, ranging from 13 to 38 m/s for the median nerve (normal >42 m/s).  ...  The NCV of the median nerve was normal, ranging from 56.7 to 69.2 m/s (mean: 64.8 m/s). A whole genome analysis detected a maximal two point LOD score of 8.08 near the HSP22 locus.  ... 
doi:10.1385/nmm:8:1-2:63 pmid:16775367 fatcat:5vmirpxbq5ablftsmbmkgqxebi

myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, Alberto L. Rosa
2002 American Journal of Human Genetics  
The FASST method (Vance and Ben Othmane 1998 ) was used to genotype family 2654 with two polymorphic microsatellite repeat markers (D5S479 and D5S178) flanking the myotilin gene ( fig. 1) .  ... 
doi:10.1086/344532 pmid:12428213 pmcid:PMC378586 fatcat:cuzu5hu3f5avrmmvhnzaai2j4e

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

Jacob L McCauley, Daniel W Hahs, Lan Jiang, William K Scott, Kathleen A Welsh-Bohmer, Charles E Jackson, Jeffery M Vance, Margaret A Pericak-Vance, Jonathan L Haines
2006 BMC Medical Genetics  
0.015 0.557 0.022 4 130 130.7 D4S2394 2.12 Hahs et al. 4 1 4 6 1 4 3 . 9 D4S1625 0.032 0.013 0.038 0.020 4 154 152.5 D4S1548 3.01 Hahs et al. 4 158 158.7 D4S1629 1.32 Pericak-Vance  ... 
doi:10.1186/1471-2350-7-19 pmid:16515697 pmcid:PMC1448207 fatcat:qqcv44mkdrdd7dgneegpt5klkm

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

Brooke A. DeRosa, Kinsley C. Belle, Blake J. Thomas, Holly N. Cukier, Margaret A. Pericak-Vance, Jeffery M. Vance, Derek M. Dykxhoorn
2015 Molecular and Cellular Neuroscience  
Y2 6 2, 10 μM SB4 1542 (STEMGENT®), 1 μM dorsomorphin (STEMGENT®), and 1 μM thiazovivin.  ...  CHIR99021 (STEMGENT®), 1 μM PD325901 (STEMGENT®), 1 μM thiazovivin (STEMGENT®), and 10 μM Y27632 (STEMGENT®).  ... 
doi:10.1016/j.mcn.2015.08.007 pmid:26284979 pmcid:PMC4593758 fatcat:rvajx6xltfa3zntfqp4pmuek3e

2016 in Review and Message from the Editors to our Reviewers

Stefan M. Pulst, Nicholas Elwood Johnson, Alexandra Durr, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
2017 Neurology: Genetics  
M.  ...  Vance has received funding for travel or speaker honoraria from NETPR, Department of Defense, and NIH; serves on the editorial boards of American Journal of Neurodegenerative Diseases and as Associate  ... 
doi:10.1212/nxg.0000000000000132 pmid:28251178 pmcid:PMC5314733 fatcat:3g2chsmmdze4je7njcffr4xlwq

2017 Year in Review and Message from the Editors to Our Reviewers

Stefan M. Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P. Roos, Jeffery M. Vance
2018 Neurology: Genetics  
M.  ...  M.  ... 
doi:10.1212/nxg.0000000000000221 pmid:29552636 pmcid:PMC5852863 fatcat:ajjjzhe2jngt5acdnmpllj5vg4

Analysis of Association at Single Nucleotide Polymorphisms in the APOE Region

Eden R. Martin, John R. Gilbert, Eric H. Lai, John Riley, Allison R. Rogala, Brandon D. Slotterbeck, Catherine A. Sipe, Janet M. Grubber, Liling L. Warren, P.Michael Conneally, Ann M. Saunders, Donald E. Schmechel (+4 others)
2000 Genomics  
These associations have been replicated in many studies and in many different populations (reviewed by Roses and Pericak-Vance (1997) ).  ...  Chromosome 19q was first identified as harboring an AD susceptibility gene through linkage analysis in a series of multiplex AD families (Pericak-Vance et al., 1991) .  ... 
doi:10.1006/geno.1999.6057 pmid:10662539 fatcat:ve36b5cdd5fy3kgnt2skbh2yua

Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7

Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia Lennon Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison Rogala, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Tim, Margaret A. Pericak-Vance
1999 American Journal of Human Genetics  
DNA was extracted from the lymphocytes in the DNA bank of the Center for Human Genetics (CHG), by use of standard protocols (Vance 1998) .  ... 
doi:10.1086/302252 pmid:9973293 pmcid:PMC1377765 fatcat:gnwotfovv5dblljxsvgpeq2oc4

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, Margaret A. Pericak-Vance
2006 American Journal of Human Genetics  
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to
more » ... a, which underlines the importance of mitochondrial function in neurodegenerative disease. From the Center for Human Genetics (S.Z.; G.W.; K.-N.T.-V.; P.C.G.; J.M.V.; A.E.A.-K.; M.A.P.-
doi:10.1086/505361 pmid:16826527 pmcid:PMC1559498 fatcat:5hev2tp525blrbmmx33ajetohi

Haplotype Analysis in Icelandic Families Defines a Minimal Interval for the Macular Corneal Dystrophy Type I Gene

Ning-Pu Liu, Jennifer Baldwin, Fridbert Jonasson, Susan Dew-Knight, Jeffrey M. Stajich, Felicia Lennon, Margaret A. Pericak-Vance, Gordon K. Klintworth, Jeffery M. Vance
1998 American Journal of Human Genetics  
Given the known homogeneity of the Icelandic population Vance et al. 1996) , the multiple haplotypes for each type were unexpected.  ...  Constitutional DNA from each individual was extracted as described elsewhere (Pericak-Vance et al. 1988 ) and was genotyped with 16 polymorphic makers in the MCD region.  ... 
doi:10.1086/302001 pmid:9718332 pmcid:PMC1377390 fatcat:cs4twnlyuzenljhtxigu643hp4
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