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Article: Electroencephalogram findings in patients with posterior cortical atrophy.

Goldstein, E D / Ertekin-Taner, N / Stephens, A / Carrasquillo, M M / Boeve, B / Tatum, W O / Feyissa, A M

2018 Volume 52, Issue 6, Page(s) 690–694

Abstract: Aim of the study: The aim of this study is to evaluate standard scalp EEG findings in patients with posterior cortical atrophy (PCA), an atypical variant of Alzheimer's disease (AD).: Clinical rationale: PCA is a topographically selective variant of ... ...

Abstract	Aim of the study: The aim of this study is to evaluate standard scalp EEG findings in patients with posterior cortical atrophy (PCA), an atypical variant of Alzheimer's disease (AD). Clinical rationale: PCA is a topographically selective variant of AD. Patients with typical AD have an increased likelihood of seizures, which may negatively impact overall functional performance and cognition. It is currently unknown what the typical EEG findings are for patients with PCA. Materials and methods: A retrospective chart review was performed on patients identified either with autopsy confirmed (n=13) or clinically (n=126) as PCA. Results: 139 patients were included though only 23 (16.5%) had undergone EEG recording. The EEG was normal in 6 (26%), while an abnormal EEG was present in 17 (74%). Interictal epileptic discharges (IEDs) were found in 2 of the 23 patients (9%). Conclusions: This study of limited sample size suggests that there may be an increased predilection to find IEDs within PCA when compared to typical AD. Larger cohorts are required to determine frequency of abnormal EEGs in PCA, roles of AEDs in therapy, and in the selection of preferred AED. Clinical implications: Patients with PCA would potentially benefit from an EEG for assessment of IEDs which may provide the clinician with a therapeutic opportunity.
MeSH term(s)	Atrophy ; Electroencephalography ; Humans ; Retrospective Studies
Language	English
Publishing date	2018-10-01
Publishing country	Poland
Document type	Journal Article
ZDB-ID	415519-1
ISSN	1897-4260 ; 0028-3843
ISSN (online)	1897-4260
ISSN	0028-3843
DOI	10.1016/j.pjnns.2018.09.008
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Article: Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids.

Harte, P J / Wu, W / Carrasquillo, M M / Matera, A G

Cytogenetics and cell genetics

1999 Volume 84, Issue 1-2, Page(s) 83–86

Abstract: We have identified a human gene encoding an unusual bifurcated SET domain protein containing a large "insertion" between the most highly conserved parts of the SET domain. The existence of an evolutionarily related C. elegans gene encoding a similarly ... ...

Abstract	We have identified a human gene encoding an unusual bifurcated SET domain protein containing a large "insertion" between the most highly conserved parts of the SET domain. The existence of an evolutionarily related C. elegans gene encoding a similarly bifurcated SET domain suggests that SET domains may generally be composed of two functionally distinct subdomains. We mapped this gene, called SETDB1, to human chromosome 1q21. This region is targeted by a large number of recurrent translocations, suggesting that like the SET domain protein MLL, mutant forms of SETDB1 may be associated with human neoplasias.
MeSH term(s)	Amino Acid Sequence ; Animals ; Base Sequence ; Caenorhabditis elegans/genetics ; Chromosome Banding ; Chromosome Mapping ; Chromosomes, Human, Pair 1/genetics ; DNA Primers/genetics ; DNA-Binding Proteins/genetics ; Genes, Helminth ; Histone-Lysine N-Methyltransferase ; Humans ; Hybrid Cells ; In Situ Hybridization, Fluorescence ; Molecular Sequence Data ; Mutation ; Myeloid-Lymphoid Leukemia Protein ; Oncogenes ; Proteins/genetics ; Proto-Oncogenes ; Sequence Homology, Amino Acid ; Transcription Factors
Chemical Substances	DNA Primers ; DNA-Binding Proteins ; KMT2A protein, human ; Proteins ; Transcription Factors ; Myeloid-Lymphoid Leukemia Protein (149025-06-9) ; Histone-Lysine N-Methyltransferase (EC 2.1.1.43)
Language	English
Publishing date	1999
Publishing country	Switzerland
Document type	Comparative Study ; Journal Article ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	186001-x
ISSN	1421-9816 ; 0301-0171
ISSN (online)	1421-9816
ISSN	0301-0171
DOI	10.1159/000015220
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Article ; Online: Genome-wide association analysis of age-at-onset in Alzheimer's disease.

Kamboh, M I / Barmada, M M / Demirci, F Y / Minster, R L / Carrasquillo, M M / Pankratz, V S / Younkin, S G / Saykin, A J / Sweet, R A / Feingold, E / DeKosky, S T / Lopez, O L

Molecular psychiatry

2011 Volume 17, Issue 12, Page(s) 1340–1346

Abstract: The risk of Alzheimer's disease (AD) is strongly determined by genetic factors and recent genome-wide association studies (GWAS) have identified several genes for the disease risk. In addition to the disease risk, age-at-onset (AAO) of AD has also strong ...

Abstract	The risk of Alzheimer's disease (AD) is strongly determined by genetic factors and recent genome-wide association studies (GWAS) have identified several genes for the disease risk. In addition to the disease risk, age-at-onset (AAO) of AD has also strong genetic component with an estimated heritability of 42%. Identification of AAO genes may help to understand the biological mechanisms that regulate the onset of the disease. Here we report the first GWAS focused on identifying genes for the AAO of AD. We performed a genome-wide meta-analysis on three samples comprising a total of 2222 AD cases. A total of ~2.5 million directly genotyped or imputed single-nucleotide polymorphisms (SNPs) were analyzed in relation to AAO of AD. As expected, the most significant associations were observed in the apolipoprotein E (APOE) region on chromosome 19 where several SNPs surpassed the conservative genome-wide significant threshold (P<5E-08). The most significant SNP outside the APOE region was located in the DCHS2 gene on chromosome 4q31.3 (rs1466662; P=4.95E-07). There were 19 additional significant SNPs in this region at P<1E-04 and the DCHS2 gene is expressed in the cerebral cortex and thus is a potential candidate for affecting AAO in AD. These findings need to be confirmed in additional well-powered samples.
MeSH term(s)	Age of Onset ; Aged ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Cadherins/genetics ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Genome-Wide Association Study/statistics & numerical data ; Humans ; Male ; Polymorphism, Single Nucleotide/genetics
Chemical Substances	Apolipoproteins E ; Cadherins
Language	English
Publishing date	2011-10-18
Publishing country	England
Document type	Journal Article ; Meta-Analysis ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/mp.2011.135
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Article: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

Carrasquillo, M M / Zlotogora, J / Barges, S / Chakravarti, A

Human molecular genetics

1997 Volume 6, Issue 12, Page(s) 2163–2172

Abstract: Non-syndromic recessive deafness (NSRD) is the most common form of prelingual hereditary hearing loss. To date, 10 autosomal NSRD loci (DFNBs) have been identified by genetic mapping; at least three times as many additional loci are expected to be ... ...

Abstract	Non-syndromic recessive deafness (NSRD) is the most common form of prelingual hereditary hearing loss. To date, 10 autosomal NSRD loci (DFNBs) have been identified by genetic mapping; at least three times as many additional loci are expected to be identified. We have performed linkage analyses in two inter-related inbred kindreds, comprised of >50 affecteds, from a single Israeli-Arab village segregating NSRD. Genetic mapping by two-point and multi-point linkage analysis in 10 candidate regions identified the segregating gene to be on human chromosome 13q11 (DFNB1). Haplotype analysis, using eight microsatellite markers spanning 15 cM in 13q11, suggested the segregation of two different mutations in this kindred: affected individuals were homozygotes for either haplotype or compound heterozygotes. The gene for the connexin 26 gap junction protein, recently shown to be mutant in both dominant and recessive deafness, maps to this locus. We identified two distinct mutations, W77R and Gdel35, both of which likely inactivate connexin 26. The Gdel35 change likely occurs at a mutational hotspot within the connexin 26 gene. The recombination of marker alleles at the polymorphisms studied in 13q11, at known map distances from the mutations, allowed us to estimate the age of the mutations to be 3-5 generations (75-125 years). This study independently confirms the identity of connexin 26 as an NSRD gene. Importantly, we demonstrate that in small populations with high rates of consanguinity, as compared with large outbred populations, recessive mutations may have very recent origin and show allelic diversity.
MeSH term(s)	Chromosomes, Human, Pair 13/genetics ; Connexin 26 ; Connexins/genetics ; Consanguinity ; Deafness/genetics ; Genetic Linkage ; Haplotypes ; Humans ; Mutation ; Pedigree
Chemical Substances	Connexins ; GJB2 protein, human ; Connexin 26 (127120-53-0)
Language	English
Publishing date	1997-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/6.12.2163
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Article: Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes.

Shaw, S H / Carrasquillo, M M / Kashuk, C / Puffenberger, E G / Chakravarti, A

Genome research

1996 Volume 8, Issue 2, Page(s) 111–123

Abstract: Genetic studies of complex hereditary disorders require for their mapping the determination of genotypes at several hundred polymorphic loci in several hundred families. Because only a minority of markers are expected to show linkage and association in ... ...

Abstract	Genetic studies of complex hereditary disorders require for their mapping the determination of genotypes at several hundred polymorphic loci in several hundred families. Because only a minority of markers are expected to show linkage and association in family data, a simple screen of genetic markers to identify those showing linkage in pooled DNA samples can greatly facilitate gene identification. All studies involving pooled DNA samples require the comparison of allele frequencies in appropriate family samples and subsamples. We have tested the accuracy of allele frequency estimates, in various DNA samples, by pooling DNA from multiple individuals prior to PCR amplification. We have used the ABI 377 automated DNA sequencer and GENESCAN software for quantifying total amplification using a 5' fluorescently labeled forward PCR primer and relative peak heights to estimate allele frequencies in pooled DNA samples. In these studies, we have genotyped 11 microsatellite markers in two separate DNA pools, and an additional four markers in a third DNA pool, and compared the estimated allele frequencies with those determined by direct genotyping. In addition, we have evaluated whether pooled DNA samples can be used to accurately assess allele frequencies on transmitted and untransmitted chromosomes, in a collection of families for fine-structure gene mapping using allelic association. Our studies show that accurate, quantitative data on allele frequencies, suitable for identifying markers for complex disorders, can be identified from pooled DNA samples. This approach, being independent of the number of samples comprising a pool, promises to drastically reduce the labor and cost of genotyping in the initial identification of disease loci. Additional applications of DNA pooling are discussed. These developments suggest that new statistical methods for analyzing pooled DNA data are required.
MeSH term(s)	Alleles ; Chromosome Mapping/methods ; DNA Primers ; Fluorescent Dyes ; Gene Frequency ; Genetic Diseases, Inborn/genetics ; Genetic Testing/methods ; Genotype ; Humans ; Linkage Disequilibrium ; Microsatellite Repeats ; Polymerase Chain Reaction ; Polymorphism, Genetic
Chemical Substances	DNA Primers ; Fluorescent Dyes
Language	English
Publishing date	1996-04-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1284872-4
ISSN	1549-5469 ; 1088-9051 ; 1054-9803
ISSN (online)	1549-5469
ISSN	1088-9051 ; 1054-9803
DOI	10.1101/gr.8.2.111
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Zs.A 3729: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Genome-wide association study of Alzheimer's disease.

Kamboh, M I / Demirci, F Y / Wang, X / Minster, R L / Carrasquillo, M M / Pankratz, V S / Younkin, S G / Saykin, A J / Jun, G / Baldwin, C / Logue, M W / Buros, J / Farrer, L / Pericak-Vance, M A / Haines, J L / Sweet, R A / Ganguli, M / Feingold, E / Dekosky, S T /

Lopez, O L / Barmada, M M

Translational psychiatry

2012 Volume 2, Page(s) e117

Abstract: In addition to apolipoprotein E (APOE), recent large genome-wide association studies (GWASs) have identified nine other genes/loci (CR1, BIN1, CLU, PICALM, MS4A4/MS4A6E, CD2AP, CD33, EPHA1 and ABCA7) for late-onset Alzheimer's disease (LOAD). However, ... ...

Abstract	In addition to apolipoprotein E (APOE), recent large genome-wide association studies (GWASs) have identified nine other genes/loci (CR1, BIN1, CLU, PICALM, MS4A4/MS4A6E, CD2AP, CD33, EPHA1 and ABCA7) for late-onset Alzheimer's disease (LOAD). However, the genetic effect attributable to known loci is about 50%, indicating that additional risk genes for LOAD remain to be identified. In this study, we have used a new GWAS data set from the University of Pittsburgh (1291 cases and 938 controls) to examine in detail the recently implicated nine new regions with Alzheimer's disease (AD) risk, and also performed a meta-analysis utilizing the top 1% GWAS single-nucleotide polymorphisms (SNPs) with P<0.01 along with four independent data sets (2727 cases and 3336 controls) for these SNPs in an effort to identify new AD loci. The new GWAS data were generated on the Illumina Omni1-Quad chip and imputed at ~2.5 million markers. As expected, several markers in the APOE regions showed genome-wide significant associations in the Pittsburg sample. While we observed nominal significant associations (P<0.05) either within or adjacent to five genes (PICALM, BIN1, ABCA7, MS4A4/MS4A6E and EPHA1), significant signals were observed 69-180 kb outside of the remaining four genes (CD33, CLU, CD2AP and CR1). Meta-analysis on the top 1% SNPs revealed a suggestive novel association in the PPP1R3B gene (top SNP rs3848140 with P = 3.05E-07). The association of this SNP with AD risk was consistent in all five samples with a meta-analysis odds ratio of 2.43. This is a potential candidate gene for AD as this is expressed in the brain and is involved in lipid metabolism. These findings need to be confirmed in additional samples.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Female ; Genetic Association Studies ; Genetic Loci ; Genetic Markers/genetics ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Risk Factors
Chemical Substances	Apolipoprotein E4 ; Genetic Markers
Language	English
Publishing date	2012-05-15
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/tp.2012.45
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Article: Genomic variation in multigenic traits: Hirschsprung disease.

McCallion, A S / Emison, E S / Kashuk, C S / Bush, R T / Kenton, M / Carrasquillo, M M / Jones, K W / Kennedy, G C / Portnoy, M E / Green, E D / Chakravarti, A

Cold Spring Harbor symposia on quantitative biology

2004 Volume 68, Page(s) 373–381

MeSH term(s)	Animals ; Genetic Linkage ; Genetic Variation ; Haplotypes ; Hirschsprung Disease ; Humans ; Mice ; Models, Genetic ; Mutation ; Oncogene Proteins/genetics ; Phenotype ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases/genetics ; Receptor, Endothelin B/genetics ; Species Specificity
Chemical Substances	Oncogene Proteins ; Receptor, Endothelin B ; Proto-Oncogene Proteins c-ret (EC 2.7.10.1) ; RET protein, human (EC 2.7.10.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
Language	English
Publishing date	2004-07-08
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, U.S. Gov't, P.H.S.
ISSN	0091-7451
ISSN	0091-7451
DOI	10.1101/sqb.2003.68.373
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Article ; Online: Gene expression levels as endophenotypes in genome-wide association studies of Alzheimer disease.

Neurology

2010 Volume 74, Issue 6, Page(s) 480–486

Abstract: Background: Late-onset Alzheimer disease (LOAD) is a common disorder with a substantial genetic component. We postulate that many disease susceptibility variants act by altering gene expression levels.: Methods: We measured messenger RNA (mRNA) ... ...

Abstract	Background: Late-onset Alzheimer disease (LOAD) is a common disorder with a substantial genetic component. We postulate that many disease susceptibility variants act by altering gene expression levels. Methods: We measured messenger RNA (mRNA) expression levels of 12 LOAD candidate genes in the cerebella of 200 subjects with LOAD. Using the genotypes from our LOAD genome-wide association study for the cis-single nucleotide polymorphisms (SNPs) (n = 619) of these 12 LOAD candidate genes, we tested for associations with expression levels as endophenotypes. The strongest expression cis-SNP was tested for AD association in 7 independent case-control series (2,280 AD and 2,396 controls). Results: We identified 3 SNPs that associated significantly with IDE (insulin degrading enzyme) expression levels. A single copy of the minor allele for each significant SNP was associated with approximately twofold higher IDE expression levels. The most significant SNP, rs7910977, is 4.2 kb beyond the 3' end of IDE. The association observed with this SNP was significant even at the genome-wide level (p = 2.7 x 10(-8)). Furthermore, the minor allele of rs7910977 associated significantly (p = 0.0046) with reduced LOAD risk (OR = 0.81 with a 95% CI of 0.70-0.94), as expected biologically from its association with elevated IDE expression. Conclusions: These results provide strong evidence that IDE is a late-onset Alzheimer disease (LOAD) gene with variants that modify risk of LOAD by influencing IDE expression. They also suggest that the use of expression levels as endophenotypes in genome-wide association studies may provide a powerful approach for the identification of disease susceptibility alleles.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Alzheimer Disease/physiopathology ; Autopsy/methods ; Confidence Intervals ; Female ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Insulysin/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide
Chemical Substances	Insulysin (EC 3.4.24.56)
Language	English
Publishing date	2010-02-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0b013e3181d07654
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Article ; Online: Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids

Harte, P. J. / Wu, W. / Carrasquillo, M. M. / Matera, and A. G.

Cytogenetics and Cell Genetics

1999 Volume 84, Issue 1-2, Page(s) 83–86

Abstract: We have identified a human gene encoding an unusual bifurcated SET domain protein containing a large “insertion” between the most highly conserved parts of the SET domain. The existence of an evolutionarily related C. elegans gene encoding a similarly ... ...

Abstract	We have identified a human gene encoding an unusual bifurcated SET domain protein containing a large “insertion” between the most highly conserved parts of the SET domain. The existence of an evolutionarily related C. elegans gene encoding a similarly bifurcated SET domain suggests that SET domains may generally be composed of two functionally distinct subdomains. We mapped this gene, called SETDB1, to human chromosome 1q21. This region is targeted by a large number of recurrent translocations, suggesting that like the SET domain protein MLL, mutant forms of SETDB1 may be associated with human neoplasias.
Language	English
Publisher	S. Karger AG
Publishing place	Basel
Publishing country	Switzerland
Document type	Article ; Online
ZDB-ID	186001-x
ISSN	1422-9816 ; 0301-0171 ; 0301-0171
ISSN (online)	1422-9816
ISSN	0301-0171
DOI	10.1159/000015220
Database	Karger publisher's database

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Zs.A 512: Show issues

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Article: Genetic studies of the mouse mutations mahogany and mahoganoid.

Miller, K A / Gunn, T M / Carrasquillo, M M / Lamoreux, M L / Galbraith, D B / Barsh, G S

Genetics

1997 Volume 146, Issue 4, Page(s) 1407–1415

Abstract: The mouse mutations mahogany (mg) and mahoganoid (md) are negative modifiers of the Agouti coat color gene, which encodes a paracrine signaling molecule that induces a swithc in melanin synthesis from eumelanin to pheomelanin. Animals mutant for md or mg ...

Abstract	The mouse mutations mahogany (mg) and mahoganoid (md) are negative modifiers of the Agouti coat color gene, which encodes a paracrine signaling molecule that induces a swithc in melanin synthesis from eumelanin to pheomelanin. Animals mutant for md or mg synthesize very little or no pheomelanin depending on Agouti gene background. The Agouti protein is normally expressed in the skin and acts as an antagonist of the melanocyte receptor for alpha-MSH (Mc1r); however, ectopic expression of Agouti causes obesity, possibly by antagonizing melanocortin receptors expressed in the brain. To investigate where md and mg lie in a genetic pathway with regard to Agouti and Mc1r signaling, we determined the effects of these mutations in animals that carried either a loss-of-function Mc1r mutation (recessive yellow, Mc1re) or a gain-of-function Agouti mutation (lethal yellow, Ay). We found that the Mc1re mutation suppressed the effects of md and mg, but that md and mg suppressed the effects of Ay on both coat color and obesity. Plasma levels of alpha-MSH and of ACTH were unaffected by md or mg. These results suggest that md and mg interfere directly with Agouti signaling, possibly at the level of protein production or receptor regulation.
MeSH term(s)	Adrenocorticotropic Hormone/blood ; Agouti Signaling Protein ; Animals ; Crosses, Genetic ; Female ; Hair Color/genetics ; Hair Color/physiology ; Intercellular Signaling Peptides and Proteins ; Male ; Melanins/biosynthesis ; Melanins/genetics ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Mutation ; Obesity/genetics ; Obesity/metabolism ; Phenotype ; Protein Biosynthesis ; Proteins/genetics ; Receptors, Corticotropin/antagonists & inhibitors ; Receptors, Melanocortin ; Signal Transduction ; alpha-MSH/blood
Chemical Substances	Agouti Signaling Protein ; Intercellular Signaling Peptides and Proteins ; Melanins ; Proteins ; Receptors, Corticotropin ; Receptors, Melanocortin ; a protein, mouse ; pheomelanin ; eumelanin (12627-86-0) ; alpha-MSH (581-05-5) ; Adrenocorticotropic Hormone (9002-60-2)
Language	English
Publishing date	1997-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2167-2
ISSN	1943-2631 ; 0016-6731
ISSN (online)	1943-2631
ISSN	0016-6731
DOI	10.1093/genetics/146.4.1407
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