CaRLO — Cancer Research Library Online

1

Electronic Resource

Chemical modification of mitochondria - I. Specific labeling by 2,4-dinitro-5-(bromo-[2-^1^4C]acetoxyethoxy) phenol

Wang, J.H. ; Yamauchi, O. ; Tu, S.-I. ; [et al.]

Amsterdam : Elsevier

Archives of Biochemistry and Biophysics 159 (1973), S. 785-791

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ISSN: 0003-9861

Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Topics: Biology , Chemistry and Pharmacology , Physics

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1016/0003-9861(73)90519-5

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Paper (German National Licenses)

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2

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Evaluation of enzyme inhibitors in drug discovery : a guide for medicinal chemists and pharmacologists (2013)

Copeland, Robert Allen

Hoboken, N.J. : J. Wiley

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Call number: G404:10 ; L601:1

Keywords: Enzyme inhibitors / Therapeutic use ; Enzyme Inhibitors / chemistry ; Drug Design

Pages: xxx, 538 p. : ill. (some col.)

Edition: 2nd ed.

ISBN: 9781118488133

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3

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The breast : comprehensive management of benign and malignant diseases / Volume 2 (1998)

Bland, Kirby I ; Copeland, Edward M

Philadelphia : W.B. Saunders

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Call number: H0400:24

Keywords: Breast Diseases / therapy ; Breast Neoplasms / therapy

Pages: x p., p. 767 - 1631, xxxiv p. : ill. (some col.)

Edition: 2nd ed.

ISBN: 0721666566

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4

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Living with our genes : why they matter more than you think (1998)

Hamer, Dean H ; Copeland, Peter

New York : Doubleday

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Call number: H0600:82

Keywords: Temperament ; Temperament / Physiological aspects ; Personality / Genetic aspects ; Behavior genetics

Pages: 355 p.

Edition: 1st ed.

ISBN: 0385485832

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The breast : comprehensive management of benign and malignant diseases (2009)

Bland, K. I ; Copeland, Edward M

Philadelphia, PA : Saunders/Elsevier

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Call number: M100:404/1 ; M100:404/2

Keywords: Breast Diseases / therapy ; Breast Neoplasms / therapy

Pages: 2 v. (xxx, 1511, I-62 p.) : ill.

Edition: 4th ed.

ISBN: 9781416052210

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6

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The breast : comprehensive management of benign and malignant diseases / Volume 1 (1998)

Bland, Kirby I ; Copeland, Edward M

Philadelphia : W.B. Saunders

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Call number: H0400:23

Keywords: Breast Diseases / therapy ; Breast Neoplasms / therapy

Pages: xxxiv, 765, xxxiv p. : ill. (some col.)

Edition: 2nd ed.

ISBN: 0721666566

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7

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Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1

Ott,M.G. ; Schmidt,M. ; Schwarzwaelder,K. ; [et al.]

Nature Medicine 12 (4), 401-409

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Keywords: CELLS ; CELL ; COMBINATION ; Germany ; THERAPY ; DISEASE ; DISEASES ; GENE ; gene therapy ; gene transfer ; GENE-TRANSFER ; ACTIVATION ; BIOLOGY ; treatment ; bone marrow ; BONE-MARROW ; TRIAL ; NUMBER ; MUTATION ; MUTATIONS ; STEM-CELLS ; INDIVIDUALS ; CD34(+) CELLS ; HEMATOPOIETIC-CELLS ; GENE-THERAPY ; hematopoietic stem cells ; HOST-DEFENSE ; NEUTROPHILS ; cord blood ; INTEGRATION ; ADULT ; ADULTS ; RE ; HEMATOPOIESIS ; stem cells ; SEVERE COMBINED IMMUNODEFICIENCY ; analysis ; hematopoietic stem cell ; BONE ; DEFECT ; stem cell ; STEM-CELL ; RETROVIRAL INTEGRATION ; ASPERGILLUS-FUMIGATUS ; GP91(PHOX) ; LIPOSOMAL BUSULFAN ; NADPH OXIDASE ACTIVITY

Abstract: Gene transfer into hematopoietic stem cells has been used successfully for correcting lymphoid but not myeloid immunodeficiencies. Here we report on two adults who received gene therapy after nonmyeloablative bone marrow conditioning for the treatment of X-linked chronic granulomatous disease (X-CGD), a primary immunodeficiency caused by a defect in the oxidative antimicrobial activity of phagocytes resulting from mutations in gp91(phox). We detected substantial gene transfer in both individuals' neutrophils that lead to a large number of functionally corrected phagocytes and notable clinical improvement. Large-scale retroviral integration site-distribution analysis showed activating insertions in MDS1-EVI1, PRDM16 or SETBP1 that had influenced regulation of long-term hematopoiesis by expanding gene-corrected myelopoiesis three- to four-fold in both individuals. Although insertional influences have probably reinforced the therapeutic efficacy in this trial, our results suggest that gene therapy in combination with bone marrow conditioning can be successfully used to treat inherited diseases affecting the myeloid compartment such as CGD

Type of Publication: Journal article published

PubMed ID: 16582916

Deep Link: http://www.dkfz.de/cgi-bin/sel?http://www.dkfz.de/PublicationManager/Show/ShowJournal.aspx%3fpublishedId=3609

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8

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Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice

Burwinkel B ; Miglierini G ; Jenne DE ; [et al.]

Genomics 49 (3), 462-466

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Abstract: Paralemmin is a newly identified protein that is associated with the plasma membrane and with intracellular membranes through a lipid anchor. It is abundant in brain, is expressed at intermediate levels in the kidney and in endocrine cells, and occurs at low levels in many other tissues. As it is a candidate for genetic disorders that affect membrane functions, we have determined the structure of the human paralemmin gene, PALM, showing that it is organized into nine exons. Moreover, we have performed chromosomal assignments of the human and mouse paralemmin genes, localizing them to regions of homology at human 19p13.3 and the central mouse chromosome 10. Finally, mutation analysis using RNA from mice homozygous for the mutant genes grizzled (gr), mocha (mh), mocha 2J (mh2J), jittery (ji) and hesitant (ji(hes)), which map to this area, excluded mutations in their Palm coding sequences.

Type of Publication: Journal article published

PubMed ID: 9615234

Deep Link: http://www.dkfz.de/cgi-bin/sel?http://www.dkfz.de/PublicationManager/Show/ShowJournal.aspx%3fpublishedId=13948

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9

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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Peterlongo P ; Chang-Claude J ; Moysich KB ; [et al.]

Cancer Epidemiology Biomarkers and Prevention 24 (1), 308-316

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Keywords: ASSOCIATION

Abstract: Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and non-genetic modifying factors. In this study we evaluated the putative role of variants in many candidate modifier genes. Methods: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n=3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. Results: The observed p-values of association ranged between 0.005-1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.

DOI: 10.1158/1055-9965.EPI-14-0532

Type of Publication: Journal article published

PubMed ID: 25336561

Deep Link: http://www.dkfz.de/cgi-bin/sel?http://www.dkfz.de/PublicationManager/Show/ShowJournal.aspx%3fpublishedId=54162

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10

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Molecular cloning, analysis, and chromosomal localization of a mouse genomic sequence related to the human papillomavirus type 18 E5 region

Kahn T ; Friesl H ; Copeland NG ; [et al.]

Molecular Carcinogenesis 6 (2), 88-99

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Keywords: GENE ; PROTEIN ; transcription ; DNA ; TRANSFORMING ACTIVITY ; CERVICAL-CARCINOMA CELLS ; INSITU HYBRIDIZATION ; FACTOR-ALPHA ; EPIDERMAL GROWTH-FACTOR ; LINKAGE MAP

Abstract: The E5 open reading frame (ORF) from bovine papillomavirus type 1 (BPV 1) as well as the E5 ORFs from human papillomaviruses (HPV) type 6 and type 16 have been reported to transform immortalized rodent cells. In an analysis of murine and human tumors for the presence of putative papillomavirus-related sequences, we cloned amplified cellular sequences from the mouse cell line Eb that cross-hybridized with the E5 ORF of HPV 18. A 2.1-kb fragment termed HC1 was sequenced. In normal murine cells, it was present as a single-copy genomic sequence located on chromosome 8. A region of 213 nucleotides corresponded to the E5 gene (HC1 E5), based on the best alignments and on the presence of direct and inverted repeats bearing a central sequence motif. These structural elements are also present in the HPV 18 E5 ORF. HC1 E5 contained an ORF that was transcribed bidirectionally. The transcription in the E5 direction was enhanced in RNA obtained from organs and tumors from carcinogen-treated animals and C127 cells. The polypeptide deduced from the sequence was related to E5 proteins from genital papillomaviruses, to the putative product of the Q300 mouse gene, and to several viral and human growth factors. The data suggest that there may be several cellular counterparts to the viral E5 proteins.

Type of Publication: Journal article published

PubMed ID: 1326990

Deep Link: http://www.dkfz.de/cgi-bin/sel?http://www.dkfz.de/PublicationManager/Show/ShowJournal.aspx%3fpublishedId=22287

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