No association between a candidate TCF7L2variant and risk of breast or ovarian cancer (2009)
Goode, Ellen L, Szabo, Csilla, Prokunina-Olsson, Ludmila, Vierkant, Robert A, Fredericksen, Zachary S, Collins, Francis S, ...
Abstract Background TCF7L2 is a transcription factor involved in Wnt/β-catenin signaling which has a variant known to be associated with risk of Type 2 diabetes and, in some studies, with risk of...
Tissue-specific alternative splicing of TCF7L2 (2009)
Prokunina-Olsson, Ludmila, Welch, Cullan, Hansson, Ola, Adhikari, Neeta, Scott, Laura J., Usher, Nicolle, ...
Common variants in the transcription factor 7-like 2 (TCF7L2) gene have been identified as the strongest genetic risk factors for type 2 diabetes (T2D). However, the mechanisms by which these...
Email Alerting, Joseph G Hacia, Francis S Collins, Branch National, Human Genome, ...
service
Cristen J. Willer, Lori L. Bonnycastle, Karen N. Conneely, William L. Duren, Anne U. Jackson, Laura J. Scott, ...
More than 120 published reports have described associations between single nucleotide polymorphisms (SNPs) and type 2 diabetes. However, multiple studies of the same variant have often been...
Tasha E. Fingerlin, Michael R. Erdos, Richard M. Watanabe, Kerry R Wiles, Heather M. Stringham, Karen L. Mohlke, ...
Variations in the calpain-10 gene have recently been reported to be associated with type 2 diabetes in a Mexican-American population. We typed three single nucleotide polymorphisms (SNPs) in the...
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008)
Loos, Ruth J.F., Lindgren, Cecilia M., Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, ...
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the...
Francis S. Collins, Victor A. Mckusick
and other health care professionals considered medical genetics as the province of specialists in tertiary care medical centers, who spent their time evaluating unusual cases of mendelian disorders,...
DOI: 10.1126/science.282.5389.682 (2008)
The following resources related to this article are available online at
Replicating genotype-phenotype associations (2007)
Chanock, Stephen J., Manolio, Teri, Boehnke, Michael, Boerwinkle, Eric, Hunter, David J., Thomas, Gilles, ...
Peer Reviewed
Genome-Wide Analysis of Menin Binding Provides Insights into MEN1 Tumorigenesis (2006)
Peter C. Scacheri, Sean Davis, Duncan T. Odom, Gregory E. Crawford, Stacie Perkins, Mohamad J. Halawi, ...
Multiple endocrine neoplasia type I (MEN1) is a familial cancer syndrome characterized primarily by tumors of multiple endocrine glands. The gene for MEN1 encodes a ubiquitously expressed tumor...
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database (2006)
Willer, Cristen J., Scott, Laura J., Bonnycastle, Lori L., Jackson, Anne U., Chines, Peter S., Pruim, Randall, ...
The pattern and nature of linkage disequilibrium in the human genome is being studied and catalogued as part of the International HapMap Project [:2003 Nature 426:789–796]. A key goal of the HapMap...
Genome-Wide Analysis of Menin Binding Provides Insights to MEN1 Tumorigenesis (2006)
Peter C Scacheri, Sean Davis, Duncan T Odom, Gregory E Crawford, Stacie Perkins, Mohamad J Halawi, ...
Multiple Endocrine Neoplasia, type I (MEN1) is a familial cancer syndrome characterized primarily by tumors of multiple endocrine glands. The gene for MEN1 encodes a ubiquitously expressed tumor...
Bernat, John A., Crawford, Gregory E., Ogurtsov, Aleksey Y., Collins, Francis S., Ginsburg, David, Kondrashov, Alexey S.
The transcriptional regulation of genes is a complex process, particularly for genes exhibiting a tissue-specific pattern of expression. We studied 28 genes that are expressed primarily in...
Bernat, John A., Crawford, Gregory E., Ogurtsov, Aleksey Y., Collins, Francis S., Ginsburg, David, Kondrashov, Alexey S.
The transcriptional regulation of genes is a complex process, particularly for genes exhibiting a tissue-specific pattern of expression. We studied 28 genes that are expressed primarily in...
Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, ...
A major goal in genomics is to understand how genes are regulated in different tissues, stages of development, diseases, and species. Mapping DNase I hypersensitive (HS) sites within nuclear...
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns (2005)
Chines, Peter S., Watanabe, Richard M., Boehnke, Michael, Buchanan, Thomas A., Conneely, Karen N., Narisu, Narisu, ...
Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the mitochondrial genome may contribute to...
Race and Ethnicity in the Genome Era: The Complexity of the Constructs (2005)
Bonham, Vence L, Warshauer-Baker, Esther, Collins, Francis S
The vast amount of biological information that is now available through the completion of the Human Genome Project presents opportunities and challenges. The genomic era has the potential to advance...
Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, ...
A major goal in genomics is to understand how genes are regulated in different tissues, stages of development, diseases, and species. Mapping DNase I hypersensitive (HS) sites within nuclear...
Collins, Francis S., Bergman, Richard N., Watanabe, Richard M., Buchanan, Thomas A., Tuomilehto, Jaakko, Lazaridis, K. N., ...
Resistin is a peptide hormone produced by adipocytes that is present at high levels in sera of obese mice and may be involved in glucose homeostasis through regulation of insulin sensitivity. Several...
Mohlke, Karen L., Lange, Ethan M., Valle, Timo T., Ghosh, Soumitra, Magnuson, Victoria L., Silander, Kaisa, ...
Nylund, S. J., Bergman, Richard N., Magnuson, V. L., Boehnke, Michael, Collins, Francis S., Valle, Timo T., ...
Recent studies have suggested an association between Type II (non-insulin-dependent) diabetes mellitus-related phenotypes and a cytosine-to-thymidine substitution that results in the replacement of...
Principles of medical genetics / Thomas D. Gelehrter, Francis S. Collins, David Ginsburg (1998)
Gelehrter, Thomas D., Collins, Francis S., Ginsburg, David
Incluye bibliografía e indice
Hacia, Joseph G., Sun, Bryan, Hunt, Nathaniel, Edgemon, Keith, Mosbrook, Deborah, Robbins, Christiane, ...
Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...
Russell, M.W., Du Manoir, S., Brody, Lawrence C., Collins, Francis S.
Peer Reviewed
Balow, James E., Shelton, David A., Orsborn, Annette, Mangelsdorf, Marie, Aksentijevich, Ivona, Blake, Trevor, ...
Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by mutations in a gene (designated MEFV) on chromosome 16p13.3, We have recently constructed a 1-Mb cosmid contig...
Guru, Siradanahalli C., Agarwal, Sunita K., Manickam, Pachiappan, Olufemi, Shodimu-Emmanuel, Crabtree, Judy S., Weisemann, Jane M., ...
Chromosomal localization of 15 ion channel genes (1996)
Russell, Mark W. W., Manoir, Stan, Munroe, David J., Collins, Francis S., Brody, Lawrence C.
Several human Mendelian diseases, including the long-QT syndrome, malignant hyperthermia, and episodic ataxia/myokymia syndrome, have recently been demonstrated to be due to mutations in ion channel...
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure (1996)
Nasr, Samya Z., Strong, Theresa V., Mansoura, Monique K., Dawson, David C., Collins, Francis S.
No abstract.
Collins, Francis S., Boehnke, Michael, Chandrasekharappa, Settara C., Shearon, Tempie H., Ho, Peggy P., Couch, Fergus J., ...
The human homolog of the Saccharomyces cerevisiae cell division control 27 gene (CDC27) was mapped to human chromosome 17q12-q21 using a panel of human/rodent somatic cell hybrids and localized...
Microdissection and microcloning of chromosomal alterations in human breast cancer (1995)
Collins, Francis S., Diamond, Austin, Guan, X. Y., Trent, Jeffrey M., Weber, Barbara L., Zhang, Ji, ...
The recognition of recurring sites of chromosome changes in malignancies has greatly facilitated the identification of genes implicated in the pathogenesis of human cancers. Based especially upon...
Transcript identification in the BRCA1 candidate region (1995)
Abel, Kenneth J., Couch, Fergus J., Merajver, Sofia D., Castilla, Lucio H., Brody, Lawrence C., Collins, Francis S., ...
Chromosome 17q12-21 is known to contain a gene (or genes) which confers susceptibility to early-onset breast cancer and ovarian cancer (BRCA1). Identification and isolation of BRCA1 will likely...
Smit, Lisa S., Strong, Theresa V., Wilkinson, Daniel J., Macek, Milan, Mansoura, Monique K., Wood, Deborah L., ...
We have identified a novel CFTR missense mutation associated with a protein trafficking defect in mammalian cells but normal chloride channel properties in a Xenopus oocyte assay. The mutation, a...
Savitsky, Kinneret, Sfez, Sharon, Tagle, Danilo A., Ziv, Yael, Sartiel, Adam, Collins, Francis S., ...
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity, and cancer predisposition. A-T heterozygotes are moderately...
Couch, Fergus J., Kiousis, Sam, Castilla, Lucio H., Xu, Junzhe, Chandrasekharappa, Settara C., Chamberlain, Jeffrey S., ...
A familial early onset breast cancer gene (BRCA1) has been localized to chromosome 17q21. To aid in the identification of this gene a number of new microsatellite markers from the D17S857 to D17S78...
Hajra, Amitav, Martin-Gallardo, Antonia, Tarle, Susan A., Freedman, Matthew L., Wilson-Gunn, Susan, Bernards, Andre, ...
The gene for type 1 neurofibromatosis (NF1) is most highly expressed in brain and spinal cord, although low levels of mRNA can be found in nearly all tissues. As a first step in investigating the...
Couch, Fergus J., Abel, Kenneth J., Brody, Lawrence C., Boehnke, Michael, Collins, Francis S., Weber, Barbara L.
The gene encoding ATP-citrate lyase, designated ACLY, was mapped to human chromosome 17q12-q21 by PCR on a panel of human/rodent somatic cell hybrids and localized to 17q21.1 by PCH on a panel of...
Chandrasekharappa, Settara C., Friedman, Lori, King, Stephanie E., Lee, Yoon-Hee, Welsch, Piri, Bowcock, Anne M., ...
Peer Reviewed
Gutman, D. H., Cole, Jeffrey L., Collins, Francis S.
Neurofibromin, the protein product of the neurofibromatiosis type 1 (NF1) gene, has two alternate isoforms which are generated by alternative splicing of two exons. One of these isoforms containing...
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese (1994)
Hatta, Nobuaki, Horiuchi, Takahiko, Ohtsuka, Hisashi, Matsumoto, Mitsuru, Kobayashi, Yuzuru, Collins, Francis S., ...
We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated,...
Ten base pair duplication in exon 38 of the NF1 gene (1994)
Legius, Eric, Hall, Bryan K., Wallace, Margareth R., Collins, Francis S., Glover, Thomas W.
The CA repeat marker D17S791 islocated within 40 kb of the WNT3 gene on chromosome 17q (1993)
Chandrasekharappa, Settara C., King, Stephanie E., Freedman, Matthew L., Hayes, Steve T., Bowcock, Anne M., Collins, Francis S.
Peer Reviewed
An Eco RI RFLP in the 5′ region of the human NF1 gene (1993)
Willems, P. J., Andersen, Lone B., Reyniers, E., Boulle, K., Collins, Francis S., Marchuk, Douglas A.
Von Recklinghausen neurofibromatosis or type l neurofibromatosis (NF1), is one of the most common autosomal dominant disorders. NF1 is characterized by neurofibromas, café-au-lait spots and Lisch...
Gutmann, D. H., Tennekoon, Gihan I., Cole, Jeffrey L., Collins, Francis S., Rutkowski, J. Lynn
Neurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a ∼250 kDa protein expressed predominantly in cortical neurons and oligodendrocytes in the central nervous system (CNS) and...
Deng, Zuoming, Liu, Pu, Marlton, Paula, Claxton, David F., Lane, Sharon, Callen, David F., ...
The human smooth myosin heavy chain locus (MYH11) was mapped by fluorescence in situ hybridization to the middle of the p arm of chromosome 16 using a genomic cosmid clone containing coding sequences...
Flejter, Wendy L., Barcroft, Christine L., Guo, Sun-Wei, Lynch, Eric D., Boehnke, Michael, Chandrasekharappa, Settara C., ...
A gene designated BRCA1, implicated in the susceptibility to early-onset familial breast cancer, has recently been localized to chromosome 17q12-q21. To date, the order of DNA markers mapped within...
A Radiation Hybrid Map of the BRCA1 Region of Chromosome 17q12-q21 (1993)
Abel, Kenneth J., Boehnke, Michael, Prahalad, Murali, Ho, Peggy P., Flejter, Wendy L., Watkins, Melanie, ...
The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed...
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules (1993)
Gregory, Paula E., Gutmann, David H., Mitchell, Anna L., Park, Soochul, Boguski, Mark, Jacks, Tyler, ...
The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating...
The neurofibromatosis type 1 gene and its protein product, neurofibromin (1993)
Gutmann, David H., Collins, Francis S.
Peer Reviewed
Smit, Lisa S., Nasr, Samya Z., Iannuzzi, Michael C., Collins, Francis S.
No Abstract.
Characterization of a single base-pair deletion in neurofibromatosis type 1 (1993)
Colman, Seven D., Collins, Francis S., Wallace, Margaret R.
The gene which is responsible for neurofibromatosis type 1 (NF1) is located on chromosome 17 (17q11.2). The NF1 gene is approximately 350 kilobases (kb) long and exhibits an extremely high mutation...
Strong, Theresa V., Wilkinson, Daniel J., Monsoura, Monique K., Devor, Daniel C., Henze, Karlin, Yang, Yiping, ...
The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride (Cl−) channel, and expression of the full length gene in vitro is sufficient to correct the...
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus (1993)
Tagle, Danilo A., Blanchard-McQuate, Kristina L., Valdes, John, Castilla, Lucio, MacDonald, Marcy E., Gusella, James F., ...
A simple non-radioactive method for diagnosis of Huntington's disease (1993)
Valdes, John M., Tagle, Danilo A., Elmer, Lawrence W., Collins, Francis S.
Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci (1993)
Tagle, Danilo A., Blanchard-McQuate, Kristina L., Valdes, John, Castilla, Lucio, Collins, Francis S.
A compound nucleotide repeat in the neurofibro-matosis (NF1) gene (1993)
Andersen, Lone B., Tarlé, Susan A., Marchuk, Douglas A., Legius, Eric, Collins, Francis S.
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR (1993)
Yang, Yiping, Devor, Daniel C., Engelhardt, John F., Ernst, Stephen A., Strong, Theresa V., Collins, Francis S., ...
Cystic fibrosis (CF) is caused by mutations in the gene encoding a chloride channel called the CF transmembrane conductance regulator (CFTR). A single mutation in this gene, deletion of three...
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene (1992)
Kayes, Lucille M., Schroeder, Wanda T., Marchuk, Douglas A., Collins, Francis S., Riccardi, Vincent M., Duvic, Madeleine, ...
Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic...
NF1-related locus on chromosome 15 (1992)
Legius, Eric, Marchuk, Douglas A., Hall, Bryan K., Andersen, Lone B., Wallace, Margaret R., Collins, Francis S., ...
A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes....
A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene (1992)
Marchuk, Douglas A., Tavakkol, Roxanne, Wallace, Margaret R., Brownstein, Bernard H., Taillon-Miller, Patricia, Fong, Chin-To, ...
The yeast artificial chromosome (YAC) system (Burke et al., 1987, Science 236: 806-812) allows the direct cloning of large regions of the genome. A YAC contig map of approximately 700 kb encompassing...
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region (1992)
Gusella, James F., Altherr, Michael R., McClatchey, Andrea I., Doucette-Stamm, Lynn A., Tagle, Dan, Plummer, Sarah, ...
The generation of sequence-tagged sites (STSs) has been proposed as a unifying approach to correlating the disparate results generated by genetic and various physical techniques being used to map the...
Gutmann, David H., Collins, Francis S.
The gene for von Recklinghausen neurofibromatosis (NF1) was recently identified by positional cloning and found to code for a large, ubiquitously expressed protein. This protein has both structural...
Strong, Theresa V., Smit, Lisa S., Nasr, Samya Z., Wood, Deborah L., Cole, Jeffrey L., Iannuzzi, Michael C., ...
Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a...
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus (1992)
Tagle, Danilo A., Blanchard-McQuate, Kristina L., Collins, Francis S.
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product (1991)
Marchuk, Douglas A., Saulino, Ann M., Tavakkol, Roxanne, Swaroop, Manju, Wallace, Margaret R., Andersen, Lone B., ...
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural...
Shukla, Hridayabhiranjan, Gillespie, Gerald A., Srivastava, Rakesh, Collins, Francis S., Chorney, Michael J.
By the combination of cosmid cloning, chromosomal jumping, and pulsed-field gel electrophoresis (PFGE), we have fine-mapped the HLA-A subregion of the human major histocompatibility complex (MHC)....
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins (1990)
Ballester, Roymarie, Marchuk, Douglas A., Boguski, Mark, Saulino, Ann M., Letcher, Roxanne, Wigler, Michael, ...
The von Recklinghausen neurofibromatosis locus, NF1, encodes a protein with homology restricted to the catalytic region of the RAS GTPase-activating protein, GAP, and with extensive homology to the...
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer (1990)
Drumm, Mitchell L., Pope, Heidi A., Cliff, William H., Rommens, Johanna M., Marvin, Sheila A., Tsui, Lap-Chee, ...
We have used retrovirus-mediated gene transfer to demonstrate complementation of the cystic fibrosis (CF) defect in vitro. Amphotropic retroviruses were used to transduce a functional cystic fibrosis...
Romeo, Giovanni, Dean, Michael, Lynch, Jennifer, Amos, Jean A., Ferrari, Maurizio, Halley, Dicky, ...
Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers correspond to the loci D7S424 and...
Ledbetter, Susan A., Wallace, Margaret R., Collins, Francis S., Ledbetter, David H.
A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in...
Merry, Diane E., Lesko, John G., Siu, Victoria, Funtoff, Wayne F., Collins, Francis S., Lewis, Richard A., ...
The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural...
Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12 (1990)
Donlon, T. A., Krensky, A. M., Wallace, Margaret R., Collins, Francis S., Lovett, M., Clayberger, C.
We report here the localization of the gene for a human T-cell-specific molecule, designated RANTES, to human chromosome region 17q11.2-q12 by in situ hybridization and analysis of somatic cell...
Principles of medical genetics / Thomas D. Gelehrter, Francis S. Collins (1990)
Gelehrter, Thomas D., Collins, Francis S.
Incluye índice
Approaches to localizing disease genes as applied to cystic fibrosis (1990)
Dean, Michael, Drumm, Mitchell L., Stewart, Claudia, Gerrard, Bernard, Perry, Anjanette, Hidaka, Noriko, ...
Using chromosome jumping and walking and restriction fragment length polymorphism (RFLP) analysis, we have defined the region which must contain the cystic fibrosis gene. DNA segments spanning...
Progress towards identifying the neurofibromatosis (NF1) gene (1989)
Collins, Francis S., O'Connell, Peter, Ponder, Bruce A. J., Seizinger, Bernd R.
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder of humans. Linkage analysis has recently mapped the NF1 gene to the proximal long arm of chromosome 17. The...
Wallace, Margaret R., Fountain, Jane W., Brereton, Anne M., Collins, Francis S.
A linking library consists of genomic DNA fragments which contain a specific rare restriction enzyme site; such clones are very useful as probes in pulsed field gel electrophoresis and in mapping and...
Transfection of primary human skin fibroblasts by electroporation (1988)
Fountain, Jane W., Lockwood, Wendy K., Collins, Francis S.
Primary human skin fibroblasts are an accessible source of phenotypically and karyotypically normal human cells, but are difficult to transfect with exogenous DNA. Here we demonstrate that both...
Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis (1988)
Drumm, Mitchell L., Smith, Cassandra L., Dean, Michael, Cole, Jeffery L., Iannuzzi, Michael C., Collins, Francis S.
The gene for cystic fibrosis (CF) is known to be flanked by the closely linked DNA markers met and J3.11 on chromosome 7. Using the technique of pulsed-field gel electrophoresis, we have constructed...
Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families (1987)
Stephens, Karen, Riccardi, Vincent M., Rising, Marcia, Ng, Siu, Green, Philip, Collins, Francis S., ...
A locus for von Recklinghausen neurofibromatosis (NF1) has recently been mapped near the chromosome 17 centromere. We have extended these linkage studies by genotyping 45 NF1 families with three DNA...
Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17 (1987)
Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Baxter, A. B., Bruce, M. A., Lieberman, J. L., ...
Several recent studies indicate that the von Recklinghausen neurofibromatosis (NF1) gene is located near the centromere of chromosome 17 in some families. However, variable expressivity and a very...
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors
Crabtree, Judy S., Scacheri, Peter C., Ward, Jerrold M., Garrett-Beal, Lisa, Emmert-Buck, Michael R., Edgemon, Keith A., ...
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome, characterized primarily by multiple tumors in the parathyroid glands, endocrine pancreas, and anterior pituitary....
Menin, the product of the MEN1 gene, is a nuclear protein
Guru, Siradanahalli C., Goldsmith, Paul K., Burns, A. Lee, Marx, Stephen J., Spiegel, Allen M., Collins, Francis S., ...
The MEN1 gene, mutations in which are responsible for multiple endocrine neoplasia type 1 (MEN1), encodes a 610-amino acid protein, denoted menin. The amino acid sequence of this putative tumor...
Brown, Kevin D., Ziv, Yael, Sadanandan, Sunanda N., Chessa, Luciana, Collins, Francis S., Shiloh, Yosef, ...
The product of the ataxia-telangiectasia gene (ATM) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid sequence. The ATM protein is a single,...
Human BRCA1 inhibits growth in yeast: Potential use in diagnostic testing
Humphrey, Jeffrey S., Salim, Ali, Erdos, Michael R., Collins, Francis S., Brody, Lawrence C., Klausner, Richard D.
Germline-inactivating mutations of BRCA1 result in a hereditary predisposition to breast and ovarian cancer. Truncating mutations of BRCA1 predispose to cancer and can be ascertained by protein...
Characterization of the CHD family of proteins
Woodage, Trevor, Basrai, Munira A., Baxevanis, Andreas D., Hieter, Philip, Collins, Francis S.
The murine gene CHD1 (MmCHD1) was previously isolated in a search for proteins that bound a DNA promoter element. The presence of chromo (chromatin organization modifier) domains and an SNF2-related...
Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
Ghosh, Soumitra, Watanabe, Richard M., Hauser, Elizabeth R., Valle, Timo, Magnuson, Victoria L., Erdos, Michael R., ...
We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best...
Mohlke, Karen L., Erdos, Michael R., Scott, Laura J., Fingerlin, Tasha E., Jackson, Anne U., Silander, Kaisa, ...
To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated alleles. We examined primer extension...
Sukhodolets, Karen E., Hickman, Alison B., Agarwal, Sunita K., Sukhodolets, Maxim V., Obungu, Victor H., Novotny, Elizabeth A., ...
Menin is a 70-kDa protein encoded by MEN1, the tumor suppressor gene disrupted in multiple endocrine neoplasia type 1. In a yeast two-hybrid system based on reconstitution of Ras signaling, menin was...
Fang, Nicole Y., Greiner, Timothy C., Weisenburger, Dennis D., Chan, Wing C., Vose, Julie M., Smith, Lynette M., ...
Mutations have been described in the ataxia telangiectasia mutated (ATM) gene in small numbers of cases of lymphoid neoplasia. However, surveys of the ATM mutation status in lymphoma have been...
Of Mice and MEN1: Insulinomas in a Conditional Mouse Knockout
Crabtree, Judy S., Scacheri, Peter C., Ward, Jerrold M., McNally, Sara R., Swain, Gary P., Montagna, Cristina, ...
Patients with multiple endocrine neoplasia type 1 (MEN1) develop multiple endocrine tumors, primarily affecting the parathyroid, pituitary, and endocrine pancreas, due to the inactivation of the MEN1...
Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter
Agarwal, Sunita K., Novotny, Elizabeth A., Crabtree, Judy S., Weitzman, Jonathan B., Yaniv, Moshe, Burns, A. Lee, ...
Different components of the AP1 transcription factor complex appear to have distinct effects on cell proliferation and transformation. In contrast to other AP1 components, JunD has been shown to...
A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus
Guru, Siradanahalli C., Agarwal, Sunita K., Manickam, Pachiappan, Olufemi, Shodimu-Emmanuel, Crabtree, Judy S., Weisemann, Jane M., ...
Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is...
Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...
We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial...
Linkage Disequilibrium Between Microsatellite Markers Extends Beyond 1 cM on Chromosome 20 in Finns
Mohlke, Karen L., Lange, Ethan M., Valle, Timo T., Ghosh, Soumitra, Magnuson, Victoria L., Silander, Kaisa, ...
Linkage disequilibrium (LD) is a proven tool for evaluating population structure and localizing genes for monogenic disorders. LD-based methods may also help localize genes for complex traits. We...
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites
Crawford, Gregory E., Holt, Ingeborg E., Mullikin, James C., Tai, Denise, Green, Eric D., Wolfsberg, Tyra G., ...
Analysis of the human genome sequence has identified ≈25,000–30,000 protein-coding genes, but little is known about how most of these are regulated. Mapping DNase I hypersensitive (HS) sites has...
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci
Weber, James L., Kwitek, Anne E., May, Paula E., Wallace, Margaret R., Collins, Francis S., Ledbetter, David H.
Scacheri, Peter C., Rozenblatt-Rosen, Orit, Caplen, Natasha J., Wolfsberg, Tyra G., Umayam, Lowell, Lee, Jeffrey C., ...
RNA interference (RNAi) mediated by short interfering RNAs (siRNAs) is a widely used method to analyze gene function. To use RNAi knockdown accurately to infer gene function, it is essential to...
Goldman, Robert D., Shumaker, Dale K., Erdos, Michael R., Eriksson, Maria, Goldman, Anne E., Gordon, Leslie B., ...
Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near the C terminus,...
Capell, Brian C., Erdos, Michael R., Madigan, James P., Fiordalisi, James J., Varga, Renee, Conneely, Karen N., ...
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease. HGPS is almost always caused by a de...
Ghosh, Soumitra, Watanabe, Richard M., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., Langefeld, Carl D., ...
We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score...
Watanabe, Richard M., Ghosh, Soumitra, Langefeld, Carl D., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., ...
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580...
Genome-Wide Analysis of Menin Binding Provides Insights into MEN1 Tumorigenesis
Scacheri, Peter C, Davis, Sean, Odom, Duncan T, Crawford, Gregory E, Perkins, Stacie, Halawi, Mohamad J, ...
Multiple endocrine neoplasia type I (MEN1) is a familial cancer syndrome characterized primarily by tumors of multiple endocrine glands. The gene for MEN1 encodes a ubiquitously expressed tumor...
Response to: “Rescuing the NIH before it is too late”
Alexander, Duane F., Alving, Barbara M., Battey, James F., Berg, Jeremy M., Collins, Francis S., Fauci, Anthony S., ...
We, the directors of the 27 NIH institutes and centers, wanted to respond to the points made by Andrew Marks in his recent editorial. While we appreciate that the scientific community has concerns,...
Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, ...
A major goal in genomics is to understand how genes are regulated in different tissues, stages of development, diseases, and species. Mapping DNase I hypersensitive (HS) sites within nuclear...
Varga, Renee, Eriksson, Maria, Erdos, Michael R., Olive, Michelle, Harten, Ingrid, Kolodgie, Frank, ...
Children with Hutchinson–Gilford progeria syndrome (HGPS) suffer from dramatic acceleration of some symptoms associated with normal aging, most notably cardiovascular disease that eventually leads...
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging
Shumaker, Dale K., Dechat, Thomas, Kohlmaier, Alexander, Adam, Stephen A., Bozovsky, Matthew R., Erdos, Michael R., ...
The premature aging disease Hutchinson–Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (LAΔ50). Nuclei in cells expressing LAΔ50 are abnormally shaped and display a loss of...
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Chamberlain, Jeffrey S., Boehnke, Michael, Frank, Thomas S., Kiousis, Sam, Xu, Junxhe, Guo, Sun-Wei, ...
Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which...
A recombination event that redefines the Huntington disease region
Snell, Russell G., Thompson, Leslie M., Tagle, Danilo A., Holloway, Tracey L., Barnes, Glenn, Harley, Helen G., ...
We report both a recombination event that places the Huntington disease gene proximal to the marker D4S98 and an extended linkage-disequilibrium study that uses this marker and confirms the existence...
Two frameshift mutations in the cystic fibrosis gene
Iannuzzi, Michael C., Stern, Robert C., Collins, Francis S., Hon, Catherine Tom, Hidaka, Noriko, Strong, Theresa, ...
Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a...
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors
Crabtree, Judy S., Scacheri, Peter C., Ward, Jerrold M., Garrett-Beal, Lisa, Emmert-Buck, Michael R., Edgemon, Keith A., ...
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome, characterized primarily by multiple tumors in the parathyroid glands, endocrine pancreas, and anterior pituitary....
Menin, the product of the MEN1 gene, is a nuclear protein
Guru, Siradanahalli C., Goldsmith, Paul K., Burns, A. Lee, Marx, Stephen J., Spiegel, Allen M., Collins, Francis S., ...
The MEN1 gene, mutations in which are responsible for multiple endocrine neoplasia type 1 (MEN1), encodes a 610-amino acid protein, denoted menin. The amino acid sequence of this putative tumor...
Brown, Kevin D., Ziv, Yael, Sadanandan, Sunanda N., Chessa, Luciana, Collins, Francis S., Shiloh, Yosef, ...
The product of the ataxia-telangiectasia gene (ATM) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid sequence. The ATM protein is a single,...
Human BRCA1 inhibits growth in yeast: Potential use in diagnostic testing
Humphrey, Jeffrey S., Salim, Ali, Erdos, Michael R., Collins, Francis S., Brody, Lawrence C., Klausner, Richard D.
Germline-inactivating mutations of BRCA1 result in a hereditary predisposition to breast and ovarian cancer. Truncating mutations of BRCA1 predispose to cancer and can be ascertained by protein...
Characterization of the CHD family of proteins
Woodage, Trevor, Basrai, Munira A., Baxevanis, Andreas D., Hieter, Philip, Collins, Francis S.
The murine gene CHD1 (MmCHD1) was previously isolated in a search for proteins that bound a DNA promoter element. The presence of chromo (chromatin organization modifier) domains and an SNF2-related...
Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
Ghosh, Soumitra, Watanabe, Richard M., Hauser, Elizabeth R., Valle, Timo, Magnuson, Victoria L., Erdos, Michael R., ...
We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best...
Mohlke, Karen L., Erdos, Michael R., Scott, Laura J., Fingerlin, Tasha E., Jackson, Anne U., Silander, Kaisa, ...
To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated alleles. We examined primer extension...
Sukhodolets, Karen E., Hickman, Alison B., Agarwal, Sunita K., Sukhodolets, Maxim V., Obungu, Victor H., Novotny, Elizabeth A., ...
Menin is a 70-kDa protein encoded by MEN1, the tumor suppressor gene disrupted in multiple endocrine neoplasia type 1. In a yeast two-hybrid system based on reconstitution of Ras signaling, menin was...
Fang, Nicole Y., Greiner, Timothy C., Weisenburger, Dennis D., Chan, Wing C., Vose, Julie M., Smith, Lynette M., ...
Mutations have been described in the ataxia telangiectasia mutated (ATM) gene in small numbers of cases of lymphoid neoplasia. However, surveys of the ATM mutation status in lymphoma have been...
Of Mice and MEN1: Insulinomas in a Conditional Mouse Knockout
Crabtree, Judy S., Scacheri, Peter C., Ward, Jerrold M., McNally, Sara R., Swain, Gary P., Montagna, Cristina, ...
Patients with multiple endocrine neoplasia type 1 (MEN1) develop multiple endocrine tumors, primarily affecting the parathyroid, pituitary, and endocrine pancreas, due to the inactivation of the MEN1...
Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter
Agarwal, Sunita K., Novotny, Elizabeth A., Crabtree, Judy S., Weitzman, Jonathan B., Yaniv, Moshe, Burns, A. Lee, ...
Different components of the AP1 transcription factor complex appear to have distinct effects on cell proliferation and transformation. In contrast to other AP1 components, JunD has been shown to...
A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus
Guru, Siradanahalli C., Agarwal, Sunita K., Manickam, Pachiappan, Olufemi, Shodimu-Emmanuel, Crabtree, Judy S., Weisemann, Jane M., ...
Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is...
Centola, Michael, Chen, Xiaoguang, Sood, Raman, Deng, Zuoming, Aksentijevich, Ivona, Blake, Trevor, ...
We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial...
Linkage Disequilibrium Between Microsatellite Markers Extends Beyond 1 cM on Chromosome 20 in Finns
Mohlke, Karen L., Lange, Ethan M., Valle, Timo T., Ghosh, Soumitra, Magnuson, Victoria L., Silander, Kaisa, ...
Linkage disequilibrium (LD) is a proven tool for evaluating population structure and localizing genes for monogenic disorders. LD-based methods may also help localize genes for complex traits. We...
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites
Crawford, Gregory E., Holt, Ingeborg E., Mullikin, James C., Tai, Denise, Green, Eric D., Wolfsberg, Tyra G., ...
Analysis of the human genome sequence has identified ≈25,000–30,000 protein-coding genes, but little is known about how most of these are regulated. Mapping DNase I hypersensitive (HS) sites has...
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci
Weber, James L., Kwitek, Anne E., May, Paula E., Wallace, Margaret R., Collins, Francis S., Ledbetter, David H.
Scacheri, Peter C., Rozenblatt-Rosen, Orit, Caplen, Natasha J., Wolfsberg, Tyra G., Umayam, Lowell, Lee, Jeffrey C., ...
RNA interference (RNAi) mediated by short interfering RNAs (siRNAs) is a widely used method to analyze gene function. To use RNAi knockdown accurately to infer gene function, it is essential to...
Goldman, Robert D., Shumaker, Dale K., Erdos, Michael R., Eriksson, Maria, Goldman, Anne E., Gordon, Leslie B., ...
Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near the C terminus,...
Capell, Brian C., Erdos, Michael R., Madigan, James P., Fiordalisi, James J., Varga, Renee, Conneely, Karen N., ...
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease. HGPS is almost always caused by a de...
Ghosh, Soumitra, Watanabe, Richard M., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., Langefeld, Carl D., ...
We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score...
Watanabe, Richard M., Ghosh, Soumitra, Langefeld, Carl D., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., ...
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580...
Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, ...
A major goal in genomics is to understand how genes are regulated in different tissues, stages of development, diseases, and species. Mapping DNase I hypersensitive (HS) sites within nuclear...
Varga, Renee, Eriksson, Maria, Erdos, Michael R., Olive, Michelle, Harten, Ingrid, Kolodgie, Frank, ...
Children with Hutchinson–Gilford progeria syndrome (HGPS) suffer from dramatic acceleration of some symptoms associated with normal aging, most notably cardiovascular disease that eventually leads...
Genome-Wide Analysis of Menin Binding Provides Insights into MEN1 Tumorigenesis
Scacheri, Peter C, Davis, Sean, Odom, Duncan T, Crawford, Gregory E, Perkins, Stacie, Halawi, Mohamad J, ...
Multiple endocrine neoplasia type I (MEN1) is a familial cancer syndrome characterized primarily by tumors of multiple endocrine glands. The gene for MEN1 encodes a ubiquitously expressed tumor...
Response to: “Rescuing the NIH before it is too late”
Alexander, Duane F., Alving, Barbara M., Battey, James F., Berg, Jeremy M., Collins, Francis S., Fauci, Anthony S., ...
We, the directors of the 27 NIH institutes and centers, wanted to respond to the points made by Andrew Marks in his recent editorial. While we appreciate that the scientific community has concerns,...
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging
Shumaker, Dale K., Dechat, Thomas, Kohlmaier, Alexander, Adam, Stephen A., Bozovsky, Matthew R., Erdos, Michael R., ...
The premature aging disease Hutchinson–Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (LAΔ50). Nuclei in cells expressing LAΔ50 are abnormally shaped and display a loss of...
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Chamberlain, Jeffrey S., Boehnke, Michael, Frank, Thomas S., Kiousis, Sam, Xu, Junxhe, Guo, Sun-Wei, ...
Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which...
A recombination event that redefines the Huntington disease region
Snell, Russell G., Thompson, Leslie M., Tagle, Danilo A., Holloway, Tracey L., Barnes, Glenn, Harley, Helen G., ...
We report both a recombination event that places the Huntington disease gene proximal to the marker D4S98 and an extended linkage-disequilibrium study that uses this marker and confirms the existence...
Two frameshift mutations in the cystic fibrosis gene
Iannuzzi, Michael C., Stern, Robert C., Collins, Francis S., Hon, Catherine Tom, Hidaka, Noriko, Strong, Theresa, ...
Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a...
Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Ploughman, Lynn M., Seiler, Kathleen A., Lieberman, Janice L., ...
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this...
Genetic analysis of eight loci tightly linked to neurofibromatosis 1
Stephens, Karen, Green, Philip, Riccardi, Vincent M., Ng, Siu, Rising, Marcia, Barker, David, ...
The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families...
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17
Fountain, Jane W., Wallace, Margaret R., Brereton, Anne M., O'Connell, Peter, White, Raymond L., Rich, Donna C., ...
The von Recklinghausen neurofibromatosis (NF1) locus has been linked to chromosome 17, and recent linkage analyses (see accompanying papers in this issue) place the gene on the proximal long arm. NF1...
Agarwal, Sunita K, Impey, Soren, McWeeney, Shannon, Scacheri, Peter C, Collins, Francis S, Goodman, Richard H, ...
Menin is the protein product of the MEN1 tumor-suppressor gene; one allele of MEN1 is inactivated in the germ line of patients with “multiple endocrine neoplasia type 1” (MEN1) cancer syndrome....
Cao, Kan, Capell, Brian C., Erdos, Michael R., Djabali, Karima, Collins, Francis S.
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by dramatic premature aging. Classic HGPS is caused by a de novo point mutation in exon 11 (residue 1824, C →...
McClintock, Dayle, Ratner, Desiree, Lokuge, Meepa, Owens, David M., Gordon, Leslie B., Collins, Francis S., ...
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases...
A HapMap harvest of insights into the genetics of common disease
Manolio, Teri A., Brooks, Lisa D., Collins, Francis S.
The International HapMap Project was designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association...
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
Chen, Wei-Min, Erdos, Michael R., Jackson, Anne U., Saxena, Richa, Sanna, Serena, Silver, Kristi D., ...
Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore investigated the association of fasting...
Capell, Brian C., Olive, Michelle, Erdos, Michael R., Cao, Kan, Faddah, Dina A., Tavarez, Urraca L., ...
Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of human premature aging. Death occurs at a mean age of 13 years, usually from heart attack or stroke. Almost all cases of HGPS...
Hindorff, Lucia A., Sethupathy, Praveen, Junkins, Heather A., Ramos, Erin M., Mehta, Jayashri P., Collins, Francis S., ...
We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs)....
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer
Goode, Ellen L, Szabo, Csilla, Prokunina-Olsson, Ludmila, Vierkant, Robert A, Fredericksen, Zachary S, Collins, Francis S, ...
Tissue-specific alternative splicing of TCF7L2
Prokunina-Olsson, Ludmila, Welch, Cullan, Hansson, Ola, Adhikari, Neeta, Scott, Laura J., Usher, Nicolle, ...
Common variants in the transcription factor 7-like 2 (TCF7L2) gene have been identified as the strongest genetic risk factors for type 2 diabetes (T2D). However, the mechanisms by which these...
Gaulton, Kyle J., Willer, Cristen J., Li, Yun, Scott, Laura J., Conneely, Karen N., Jackson, Anne U., ...
OBJECTIVE—Type 2 diabetes is a common complex disorder with environmental and genetic components. We used a candidate gene–based approach to identify single nucleotide polymorphism (SNP) variants...