Altered expression and deletion of RMO1 in osteosarcoma (2005)
Eppert, K, Wunder, JS, Aneliunas, V, Tsui, L-C, Scherer, SW, Andrulis, IL
In order to increase our understanding of the molecular events underlying osteosarcoma progression, the expression of approximately 950 genes was examined in 24 primary and metastatic osteosarcoma...
Characterization of the segmental duplication LCR7-20 in the human genome (2004)
Liu, X, Li, X, Li, M, Acimovic, YJ, Scherer, SW, Estivill, X, ...
Our previous study described the amplification of a genomic sequence containing exon 9 of CFTR in the human genome. Here we report that this CFTR sequence is part of a large duplicated sequence unit,...
Cheung, J, Estivill, X, Khaja, R, MacDonald, JR, Lau, K, Tsui, LC, ...
Background Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human...
Human Chromosome 7: DNA sequence and biology (2003)
Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, ...
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description,...
Wilson, MD, Riemer, C, Martindale, DW, Schnupf, P, Boright, AP, Cheung, TL, ...
Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a...
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome (2001)
Osborne, LR, Li, M, Pober, B, Chitayat, D, Bodurtha, J, Mandel, A, ...
Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases,...
Cheung, J, Petek, E, Nakabayashi, K, Tsui, L-C, Vincent, JB, Scherer, SW
Human chromosome 7q31 contains putative susceptibility loci for autism (AUTS1) and speech and language disorder (SPCH1). We report here the identification and characterization of a novel gene...
Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome: Letters to the editor (2000)
Belloni, E, Martucciello, G, Verderio, D, Ponti, E, Seri, M, Jasonni, V, ...
Hellman, A, Rahat, A, Scherer, SW, Darvasi, A, Tsui, L-C, Kerem, B
Common fragile sites are specific chromosomal loci that show gaps, breaks, or rearrangements in metaphase chromosomes under conditions that interfere with DNA replication. The mechanism underlying...
Hwang, MY, Kang, YJ, Kim, YH, Scherer, SW, Tsui, LC, Sohn, U
In an effort to identify novel genes that are expressed differentially in an infant thymus, we constructed an oligo-d(T) primed cDNA library from a human infant thymus followed by single-run partial...
Crackower, MA, Sinasac, DS, Xia, J, Motoyama, J, Prochazka, M, Rommens, JM, ...
Cytoplasmic dynein is a large multisubunit microtubule-based motor protein, which mediates movement of numerous intracellular organelles. We report here the identification of the human homologue of...
Osborne, L-C, RL, L-C, Campbell, T, Daradich, A, Scherer, SW, Tsui, L-C
Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of the disorder are known to be caused...
De, Silva, Kantharidis, P, Scherer, SW, Rayeroux, K, Campbell, L, Tsui, L-C, ...
Both the expression of the multidrug transporter, P-glycoprotein (Pgp), and abnormalities of the long arm of chromosome 7 have been shown to be adverse prognostic indicators in acute leukemias. In...
Kobayashi, K, Sinasac, DS, Iijima, M, Boright, AP, Begum, L, Lee, JR, ...
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS...
Corcoran, MM, Mould, SJ, Orchard, JA, Ibbotson, RE, Chapman, RM, Boright, AP, ...
The increased or inappropriate expression of genes with oncogenic properties through specific chromosome translocations is an important event in the pathogenesis of B-cell lymphoproliferative...
Sinasac, DS, Crackower, MA, Lee, JR, Kobayashi, K, Saheki, T, Scherer, SW, ...
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined...
Mishmar, D, Rahat, A, Scherer, SW, Nyakatura, G, Hinzmann, B, Kohwi, Y, ...
Common fragile sites are chromosomal loci prone to breakage and rearrangement, hypothesized to provide targets for foreign DNA integration. We cloned a simian virus 40 integration site and showed by...
Vargas, FR, Roessler, E, Gaudenz, K, Belloni, E, Whitehead, AS, Kirke, PN, ...
The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb...
Torigoe, K, Harada, T, Kusaba, H, Uchiumi, T, Kohno, K, Green, ED, ...
A contig of 21 nonchimeric yeast artificial chromosomes (YACs) was previously assembled across 1.5 Mb of the multidrug resistance (MDR) gene (PGY1 and PGY3) region of human chromosome 7q21.1. This...
Molecular analysis of the PDS gene in Pendred syndrome (1998)
Coyle, B, Reardon, W, Herbrick, JA, Tsui, L-C, Gausden, E, Lee, J, ...
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of...
Boright, AP, Connelly, PW, Brunt, JH, Scherer, SW, Tsui, L-C, Hegele, RA
In a sample taken from the genetically isolated Alberta Hutterites, we previously found that PON1 variation was associated with variation in plasma lipoprotein traits, including LDL and HDL...
Minassian, BA, Lee, J, Herbrick, J, Huizenga, J, Soder, S, Mungall, A, ...
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late...
The BCL7 gene family: deletion of BCL7B in Williams syndrome (1998)
Jadayel, DM, Osborne, LR, Coignet, LJA, Zani, VJ, Tsui, L-C, Scherer, SW, ...
The BCL7A gene, which maps to human chromosome 12q24.13, was cloned through its direct involvement with MYC and IGH in a three-way translocation in a Burkitt lymphoma cell line. Here, we describe the...
Mochizuki, H, Scherer, SW, Xi, T, Nickle, DC, Majer, M, Huizenga, JJ, ...
We report the cloning and characterization of human PON2, a paraoxonase-related gene-2 that is physically linked with PON1 and PON3 on 7q2l.3. PON2 is ubiquitously expressed and we identified several...
Dohner, K, Brown, J, Hehmann, U, Hetzel, C, Stewart, J, Lowther, G, ...
Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurring chromosome abnormalities in myeloid leukemias. The association of -7/7q- with myeloid leukemia suggests that these regions...
Glockner, G, Scherer, SW, Schattevoy, R, Boright, A, Weber, J, Tsui, L-C, ...
We have sequenced and annotated two genomic regions located in the Giemsa negative band q22 of human chromosome 7. The first region defined by the erythropoietin (EPO) locus is 228 kb in length and...
Molecular analysis of the PDS gene in Pendred syndrome (1998)
Coyle, B, Reardon, W, Herbrick, JA, Tsui, LC, Gausden, E, Lee, J, ...
Ling, M, McEachern, G, Seyda, A, MacKay, N, Scherer, SW, Bratinova, S, ...
Osborne, LR, Soder, S, Shi, XM, Pober, B, Costa, T, Scherer, SW, ...
Fischer, K, Frohling, S, Scherer, SW, McAllister Brown, J, Scholl, C, Stilgenbauer, S, ...
Loss of chromosome 7 (-7) or deletion of its long arm (7q-) are recurring chromosome abnormalities in myeloid disorders, especially in therapy-related myelodysplastic syndrome (t-MDS) and acute...
The XRCC2 DNA repair gene: identification of a positional candidate (1997)
Tambini, CE, George, AM, Rommens, JM, Tsui, L-C, Scherer, SW, Thacker, J
The human XRCC2 gene, complementing a hamster cell line (irs1) hypersensitive to DNA-damaging agents, was previously mapped to chromosome 7q36.1. Following radiation reduction of human/hamster...
Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas (1997)
Zeng, WR, Scherer, SW, Koutsilieris, M, Huizenga, JJ, Filteau, F, Tsui, L-C, ...
Cytogenetic analyses has revealed deletions and/or rearrangments at several chromosomal positions in approximately half of uterine leiomyomas. The most frequent genetic alteration, deletion of 7q22,...
Scherer, SW, Soder, S, Duvoisin, RM, Huizenga, JJ, Tsui, L-C
Metabotropic glutamate receptors (GRMs), which constitute a family of genes, are neurotransmitter receptors that respond to glutamate stimulations by activating GTP-binding proteins and modulating...
Osborne, LR, Herbick, J-A, Greavette, T, Heng, HHQ, Tsui, L-C, Scherer, SW
The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously...
Krebs, I, Weis, I, Hudler, M, Rommens, JM, Roth, H, Scherer, SW, ...
Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry,...
Roessler, E, Ward, DE, Gaudenz, K, Belloni, E, Scherer, SW, Donnai, D, ...
Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface in humans. As a step toward identifying one of the HPE genes, we have...
Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes (1997)
Hegele, RA, Connelly, PW, Scherer, SW, Hanley, AJG, Harris, SB, Tsui, L-C, ...
Hegele et al determined that homozygosity for the G148 variant of PON2 was significantly associated with raised fasting plasma glucose in Oji-Cree with non-insulin dependent diabetes.
Gene structure of the human MET proto-oncogene (1997)
Duh, F-M, Scherer, SW, Tsui, L-C, Lerman, M, Zbar, B, Schmidt, L
By direct sequencing of cosmids using primers designed from the known cDNA sequence, we identified 19 exons in the human MET proto-oncogene, and sequenced the corresponding 5' and 3' exon-intron...
Alley, TL, Scherer, SW, Huizenga, JJ, Tsui, L-C, Wallace, MR
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis,...
Freund, CL, Gregory-Evans, CY, Furukawa, T, Papaioannou, M, Looser, J, Ploder, L, ...
Genes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that...
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly (1997)
Roessler, E, Belloni, E, Gaudenz, K, Vargas, F, Scherer, SW, Tsui, L-C, ...
Holoprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE,...
Mueller, H-W, Michel, A, Heckel, D, Fischer, U, T繹nnes, M, Tsui, L-C, ...
Gene amplification, which occurs in more than 50% of malignant gliomas, is considered to play a pivotal role in tumorigenesis. There are, however, few studies aimed toward the isolation of novel...
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly (1997)
Roessler, E, Belloni, E, Gaudenz, K, Vargas, F, Scherer, SW, Tsui, LC, ...
Krebs, I, Weis, I, Hudler, M, Rommens, JM, Roth, H, Scherer, SW, ...
Takahara, K, Osborne, L, Elliott, RW, Tsui, L-C, Scherer, SW, Greenspan, DS
The human gene (PCOLCE) for the C-proteinase enhancer, a glycoprotein that enhances the enzymatic activity that cleaves the type I procollagen C-propeptide, was previously mapped to the same...
Scherer, SW, Duvoisin, RM, Kuhn, R, Heng, HHQ, Belloni, E, Tsui, L-C
Metabotropic glutamate receptors (GRMs) are neurotransmitter receptors that respond to glutamate stimulations by activating GTP-binding proteins and modulating second-messenger cascades. Eight...
Hoglund, P, Haila, S, Scherer, SW, Tsui, L-C, Green, ED, Holmberg, C, ...
Congenital chloride diarrhea affects intestinal transportation of electrolytes, resulting in potentially fatal diarrhea. Linkage disequilibrium analyses have suggested the congenital chloride...
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia (1996)
Johnson, EJ, Scherer, SW, Osborne, L, Tsui, L-C, Oscier, D, Mould, S, ...
Chromosome 7 translocations, deletions, or monosomy are associated with myelodysplasia (MDS) and acute myeloid leukemia both in children and adults. These chromosomal anomalies represent one of the...
Crackower, MA, Scherer, SW, Rommens, JM, Hui, CC, Poorkaj, P, Soder, S, ...
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder...
Scherer, SW, Feinstein, D, Oliveira, L, Tsui, L-C, Pittler, SJ
The transducin gamma-subunit gene (GNGT1) encodes a member (gamma1) of the family of heterotrimeric G-protein gamma-subunits that is specific to rod photoreceptors. In this report we have determined...
Rowles, JC, Scherer, SW, Xi, T, Majer, M, Nickle, DC, Popov, K, ...
Different isoenzymes of pyruvate dehydrogenase kinase (PDK) inhibit the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1alpha subunit, thus contributing to the regulation of...
Osborne, LR, Martindale, D, Scherer, SW, Shi, X-M, Huizenga, J, Heng, HHQ, ...
Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and...
Eppert, K, Scherer, SW, Ozcelik, H, Pirone, R, Hoodless, P, Kim, H, ...
The MAD-related (MADR) family of proteins are essential components in the signaling pathways of serine/threonine kinase receptors for the transforming growth factor beta (TGFbeta) superfamily. We...
Lin, JC, Scherer, SW, Tougas, L, Tsui, L-C, Andrulis, I, Jothy, S, ...
In breast cancer, loss of heterozygosity (LOH) has been described on the long arm of chromosome 7 at band q31, suggesting the presence of a tumor suppressor gene in this region. To define the deleted...
Mackay, M, Fantes, J, Scherer, SW, Boyle, S, West, K, Tsui, L-C, ...
The neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase activating polypeptide (PACAP) have been shown to act on a wide range of tissue and cell types, both in the...
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996)
Belloni, E, Muenke, M, Roessler, E, Mitchell, HF, Siegel-Bartel, J, Frumkin, A, ...
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced...
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (1996)
Roessler, E, Belloni, E, Gaudenz, K, Jay, P, Berta, P, Scherer, SW, ...
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during...
Rozman, D, Stromsted, M, Tsui, L-C, Scherer, SW, Waterman, MR
Sterol 14alpha-demethylase (P45014DM) encoded by CYP51 is a member of the cytochrome P450 (CYP) gene superfamily involved in sterol biosynthesis in fungi, plants, and animals. Constraints imposed by...
A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7 (1996)
Nakabayashi, K, Ogata, T, Fujii, M, Takahashi, E, Tsui, L-C, Scherer, SW, ...
Mouse A9 cells containing human chromosome 7 tagged with pSV2neo were irradiated with X-rays and fused to A9 cells to isolate G418-resistant clones. From these clones, we selected radiation hybrids...
Crackower, MA, Scherer, SW, Rommens, JM, Hui, CC, Poorkaj, P, Soder, S, ...
Hoglund, P, Haila, S, Scherer, SW, Tsui, LC, Green, ED, Weissenbach, J, ...
Alley, TL, Gray, BA, Lee, SH, Scherer, SW, Tsui, LC, Tint, GS, ...
Smith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in...
Thacker, J, Tambini, CE, Simpson, PJ, Tsui, L-C, Scherer, SW
The identification of genes controlling cellular response to DNA damage is of considerable importance, and cell lines showing hypersensitivity to DNA-damaging agents can be used as vehicles to map...
Barron-Casella, EA, Torres, MA, Scherer, SW, Heng, HHQ, Tsui, L-C, And, Casella
From a human retinal cDNA library, we have isolated cDNAs that are homologs for the alpha 2 and beta subunits of chicken Cap Z. The derived human alpha subunit shares 95% amino acid identity with the...
Torigoe, K, Sato, S, Kusaba, H, Kohno, K, Kuwano, M, Okumura, K, ...
A contig of 21 nonchimeric yeast artificial chromosomes (YACs) has been assembled across 1.5 Mb of the multidrug resistance (MDR) gene region located at 7q21, and formatted with four previously...
Torigoe, K, Sato, S, Kusaba, H, Kohno, K, Kuwano, M, Okumura, K, ...
Scherer, SW, Poorkaj, P, Allen, T, Kim, J, Geshuri, D, Nunes, M, ...
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of...
Palmer, S, Scherer, SW, Kukolich, M, Wijsman, EM, Tsui, LC, Stephens, K, ...
Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and...
Heng, HHQ, Shi, XM, Scherer, SW, Andrulis, IL, Tsui, LC
We have mapped the asparagine synthetase gene (ASNS) to 7q21.3 by fluorescence in situ hybridization. While this study refined the localization of the gene, it also revealed a rearrangement in a...
Iles, DE, Lehmann-Horn, F, Scherer, SW, Tsui, L-C, Olde, Weghuis, Suijkerbuijk, RF, ...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a potentially fatal hypermetabolic crisis triggered by commonly used anaesthetic...
Kunz, J, Scherer, SW, Klawitz, I, Soder, S, Du, Y-Z, Speich, N, ...
Toward the construction of a complete physical map of human chromosome 7, we have localized 725 YAC clones to cytogenetically defined regions using fluorescence in situ hybridization (FISH) and by...
Scherer, SW, Poorkaj, P, Massa, H, Soder, S, Allen, T, Nunes, M, ...
Split hand/split foot (ectrodactyly; SHSF) is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped...
Scherer, SW, Rommens, JM, Soder, S, Plavsic, N, Tompkins, BJF, Beattie, A, ...
The chromosome localizations for 159 gene and DNA segments have been refined to one of five intervals in the 7q21-132 region through hybridization analysis with a panel of somatic cell hybrid lines....
Marsden, PA, Heng, HHQ, Scherer, SW, Stewart, RJ, Hall, AV, Shi, X-M, ...
Endothelial nitric oxide (NO) synthase is a unique NO synthase isoform that is expressed constitutively by vascular endothelium both in vivo and in vitro and is believed essential to local vascular...
Mapping themidkine family of developmentally regulated signaling molecules (1993)
Peichel, CL, Scherer, SW, Tsui, L-C, Beier, DR, Vogt, TF
Midkine (Mdk) and heparin-binding neurotrophic factor (Hbnf)/pleiotrophin (Ptn) comprise the Midkine family of developmentally regulated signaling molecules. We have determined the chromosomal...
Physical mapping of the holoprosencephaly critical region in 7q36 (1992)
Gurrieri, F, Trask, BJ, Van, Den, Krauss, CM, Schinzel, A, Pettenati, MJ, ...
Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We...
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31→q32 (1991)
Scherer, SW, Otulakowski, G, Robinson, BH, Tsui, LC
The gene for human dihydrolipoamide dehydrogenase (DLD) has been localized to the long arm of chromosome 7, within bands q31→q32, by gel-blot hybridization analysis with DNA from a panel of somatic...