Search Results - (Author, Cooperation:C. Disteche)
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1F. Yue ; Y. Cheng ; A. Breschi ; J. Vierstra ; W. Wu ; T. Ryba ; R. Sandstrom ; Z. Ma ; C. Davis ; B. D. Pope ; Y. Shen ; D. D. Pervouchine ; S. Djebali ; R. E. Thurman ; R. Kaul ; E. Rynes ; A. Kirilusha ; G. K. Marinov ; B. A. Williams ; D. Trout ; H. Amrhein ; K. Fisher-Aylor ; I. Antoshechkin ; G. DeSalvo ; L. H. See ; M. Fastuca ; J. Drenkow ; C. Zaleski ; A. Dobin ; P. Prieto ; J. Lagarde ; G. Bussotti ; A. Tanzer ; O. Denas ; K. Li ; M. A. Bender ; M. Zhang ; R. Byron ; M. T. Groudine ; D. McCleary ; L. Pham ; Z. Ye ; S. Kuan ; L. Edsall ; Y. C. Wu ; M. D. Rasmussen ; M. S. Bansal ; M. Kellis ; C. A. Keller ; C. S. Morrissey ; T. Mishra ; D. Jain ; N. Dogan ; R. S. Harris ; P. Cayting ; T. Kawli ; A. P. Boyle ; G. Euskirchen ; A. Kundaje ; S. Lin ; Y. Lin ; C. Jansen ; V. S. Malladi ; M. S. Cline ; D. T. Erickson ; V. M. Kirkup ; K. Learned ; C. A. Sloan ; K. R. Rosenbloom ; B. Lacerda de Sousa ; K. Beal ; M. Pignatelli ; P. Flicek ; J. Lian ; T. Kahveci ; D. Lee ; W. J. Kent ; M. Ramalho Santos ; J. Herrero ; C. Notredame ; A. Johnson ; S. Vong ; K. Lee ; D. Bates ; F. Neri ; M. Diegel ; T. Canfield ; P. J. Sabo ; M. S. Wilken ; T. A. Reh ; E. Giste ; A. Shafer ; T. Kutyavin ; E. Haugen ; D. Dunn ; A. P. Reynolds ; S. Neph ; R. Humbert ; R. S. Hansen ; M. De Bruijn ; L. Selleri ; A. Rudensky ; S. Josefowicz ; R. Samstein ; E. E. Eichler ; S. H. Orkin ; D. Levasseur ; T. Papayannopoulou ; K. H. Chang ; A. Skoultchi ; S. Gosh ; C. Disteche ; P. Treuting ; Y. Wang ; M. J. Weiss ; G. A. Blobel ; X. Cao ; S. Zhong ; T. Wang ; P. J. Good ; R. F. Lowdon ; L. B. Adams ; X. Q. Zhou ; M. J. Pazin ; E. A. Feingold ; B. Wold ; J. Taylor ; A. Mortazavi ; S. M. Weissman ; J. A. Stamatoyannopoulos ; M. P. Snyder ; R. Guigo ; T. R. Gingeras ; D. M. Gilbert ; R. C. Hardison ; M. A. Beer ; B. Ren
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-11-21Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Cell Lineage/genetics ; Chromatin/genetics/metabolism ; Conserved Sequence/genetics ; DNA Replication/genetics ; Deoxyribonuclease I/metabolism ; Gene Expression Regulation/genetics ; Gene Regulatory Networks/genetics ; Genome/*genetics ; Genome-Wide Association Study ; *Genomics ; Humans ; Mice/*genetics ; *Molecular Sequence Annotation ; RNA/genetics ; Regulatory Sequences, Nucleic Acid/genetics ; Species Specificity ; Transcription Factors/metabolism ; Transcriptome/geneticsPublished by: -
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ISSN: 0014-4827Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
3Chapman, V.M. ; Stephenson, D.A. ; Mullins, L.J. ; Keitz, B.T. ; Disteche, C. ; Orkin, S.H.
Amsterdam : ElsevierStaff ViewISSN: 0888-7543Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
4Staff View
ISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineDescription / Table of Contents: Résumé Le cas d'un enfant porteur de malformations multiples est décrit. L'étude des chromosomes par les techniques du Q-, G-, C- et Giemsa-11 banding a révélé que les lymphocytes du proposant présentaient une formule caryologique 47XY,t(9p,h+,9p) alors que les fibroblastes provenant d'une biopsie de peau étaient normaux (46XY).Abstract: Zusammenfassung Es wird über ein Kind, das mannigfaltige Mißbildungen zeigt, berichtet. Die Chromosomenuntersuchung mit Hilfe der Q-, G-, C- und Giemsa-11 Banding-Methoden hat an Lymphocyten den Karyotyp 47,XY,t(9p,h+,9p) ergeben, während Fibroblasten von einer Hautbiopsie einen normalen Karyotyp (46,XY) haben.Notes: Summary The case of a child showing multiple malformations is reported. Chromosome studies by Q, G, C and Giemsa 11 banding methods revealed that lymphocytes of the propositus had a 47XY,t(9p,h+,9p) karyotype though fibroblasts from a skin biopsy were normal (46XY).Type of Medium: Electronic ResourceURL: -
5Disteche, C. M. ; Brown, L. ; Saal, H. ; Friedman, C. ; Thuline, H. C. ; Hoar, D. I. ; Pagon, R. A. ; Page, D. C.
Springer
Published 1986Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes.Type of Medium: Electronic ResourceURL: -
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ISSN: 1432-0886Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract An idic(Xp-) in which the two X chromosomes are attached short arm to short arm, and which thus has two b regions (the Q-dark segment next to the centromere on Xp) between the inactivation centers, assumed to be situated on the Q-dark region next to the centromere on Xq, showed 63.8% bipartite Barr bodies as compared with 22.2% formed by idic(Xq-). In addition, the mean distance of the two parts of the Barr bodies in the fibroblasts of a patient with idic(Xp-) is significantly greater than in the cases with one or no b region. Contrary to the other patients with abnormal X chromosomes, the buccal cells of a woman idic(Xp-) showed a number of bipartite Barr bodies. — To explain these observations we have put forward the hypothesis that the b region on the Xp always remains active and thus, when the rest of the chromosome forms a Barr body, this segment is extended, allowing the two parts of the X chromatin to get farther apart and at the same time increasing the percentage of bipartite bodies.Type of Medium: Electronic ResourceURL: -
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ISSN: 1432-0886Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract After staining by a new proflavine derivative (2,7-di-t-butyl proflavine, DBP), which specifically binds to the A-T base pairs of DNA by an external process, the constrictions of the human chromosomes 1, 16 and to a lesser extent 9 and the centromeric regions of the chromosomes (except the Y) of Mus musculus are brightly fluorescent. These chromosome regions are known to contain repetitive DNAs rich in A-T. On the contrary, the centromeric regions of the autosomes of Bos taurus, which contain a G-C rich DNA, are faintly fluorescent. The arms of the chromosomes of the three species display a banding similar to, but fainter than, the Q-banding. These results are discussed in correlation with physico-chemical studies on the binding and fluorescence processes of the dye bound to DNA and to nucleohistone. The staining properties of DBP are compared to those of quinacrine, quinacrine mustard and proflavine, three intercalative dyes which are also supposed to reveal the A-T base pairs along the chromosomes, but are faintly fluorescent on the human and murine A-T rich regions. This comparison leads us to discuss the mechanisms responsible for the chromosomal banding in relation to DNA base composition and repetitiveness, protein distribution and packing of the chromatin fibers, along the chromosomes.Type of Medium: Electronic ResourceURL: -
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ISSN: 1432-0886Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract When comparing the densitometric profiles of corresponding chromosomes registered from different metaphases or homologous pairs, one is always faced with the variability of their length and overall height. This makes difficult the quantitative comparison of a given chromosome treated by various staining procedures. — A simple and rapid method has been developed for normalizing the densitometric profiles and averaging them in order to obtain a “mean density pattern” of each chromosome. The analysis involves: photographic images, digitalization of the densitometric profiles and processing of the data by a mini-computer. — The method, based on a linear relationship between the area of the densitometric profiles and their length, has been applied to five human chromosomes (1, 2, 6, 12 and 16) stained by ethidium bromide, quinacrine mustard (with or without acidic hydrolysis), pararosaniline and bisaminophenyl-oxadiazole (Feulgen reaction).Type of Medium: Electronic ResourceURL: -
9Staff View
ISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary A very small sex chromosome was identified prenatally as a Y chromosome by using molecular hybridization in conjunction with conventional cytogenetics techniques. The combination of R-banding, Q-banding, distamycin-DAPI staining suggested that the chromosome might be a de novo deletion of the Y chromosome as the father's Y chromosome was normal. Restriction enzyme analysis of amniotic fluid cell DNA using a Y chromosome repetitive probe confirmed the origin of this chromosome.Type of Medium: Electronic ResourceURL: -
10Gronwald, R. G. K. ; Adler, D. A. ; Kelly, J. D. ; Disteche, C. M. ; Bowen-Pope, D. F.
Springer
Published 1990Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The gene encoding the α-subunit of the human platelet-derived growth factor receptor (PDGFRA) maps to band q11–q12 of chromosome 4 by in situ hybridization, which was confirmed by Southern analysis of a Chinese hamster × human cell hybrid that retains only human chromosome 4.Type of Medium: Electronic ResourceURL: -
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ISSN: 1432-1777Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The adenylyl cyclases (AC) act as second messengers in regulatory processes in the central nervous system. They might be involved in the pathophysiology of diseases, but their biological function is unknown, except for AC type I, which has been implicated in learning and memory. We previously mapped the gene encoding AC I to human Chromosome (Chr) 7p12. In this study we report the mapping of the adenylyl cyclase genes type I–VI to mouse chromosomes by fluorescence in situ hybridization (FISH): Adcy1 to Chr 11A2, Adcy2 to 13C1, Adcy3 to 12A-B, Adcy4 to 14D3, Adcy5 to 16B5, and Adcy6 to 15F. We also confirmed previously reported mapping results of the corresponding human loci ADCY2, ADCY3, ADCY5, and ADCY6 to human chromosomes and, in addition, determined the chromosomal location of ADCY4 to human Chr 14q11.2. The mapping data confirm known areas of conservation between mouse and human chromosomes.Type of Medium: Electronic ResourceURL: -
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ISSN: 1432-1777Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract Two isoforms of the protein kinase A catalytic subunit, Cα and Cβ, have previously been described in the mouse. We now report the cloning and characterization of a novel C-related sequence, Cx, from a murine genomic library. Cx is 89.8% identical to part of the Cα coding region, but lacks all of the introns present in this gene, suggesting that is arose via retroposition. The existence of several frameshift mutations, premature termination codons, and missense mutations at critical sites confirms that it is a pseudogene. Furthermore, we are unable to detect any expression. Homology with functional protein kinase genes commences exactly at the first intron splice junction in Cα, downstream of the expected translational start codon. Cx is also truncated at its 3′ end by the interposition of two distinct, contiguous LINE-1 elements. By fluorescence in situ hybridization, we demonstrate that Cx is located on the X Chromosome (Chr), at band F3. This is displaced from its functional homologs, Cα and Cβ, which we map to mouse Chrs 8 (band C3) and 3 (band H3), respectively.Type of Medium: Electronic ResourceURL: -
13Adler, D. A. ; Quaderi, N. A. ; Brown, S. D. M. ; Chapman, V. M. ; Moore, J. ; Tate, P. ; Disteche, C. M.
Springer
Published 1995Staff ViewISSN: 1432-1777Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract DNA methylation at the promoter region of X-linked genes is associated with the maintenance of X inactivation in mammals. One of the methylated DNA binding proteins, MECP2, that binds to methylated bases in DNA is encoded by a gene (Mecp2) located on the mouse X Chromosome (Chr). To determine whether this gene was expressed from the inactive X Chr, and X-autosome translocation (T(X;16)16H) system in which expression from the Mecp2 allele on the inactive X Chr could be assayed was used. Results from these experiments indicate that Mecp2 is subject to X inactivation in mouse.Type of Medium: Electronic ResourceURL: