41. JN 2003; Vol.16 N°2: 286-292 Renal disease and mitochondrial genetics. Agnès Rötig INSERM Unit 393, Necker Hospital, Paris - France. Genetic heterogeneity of mitochondrial disorders. http://www.sin-italia.org/jnonline/vol16n2/286.html

Table of Contents Meeting Proceeding J NEPHROL 2003; 16: 286-292 Renal disease and mitochondrial genetics Agnès Rötig - INSERM Unit 393, Necker Hospital, Paris - France Key words: Mitochondria, Respiratory chain, Tubulopathy The mitochondrial respiratory chain The mitochondrial respiratory chain (RC) catalyzes the oxidation of fuel molecules by oxygen and the concomitant energy transduction into adenosine triphosphate (ATP) via five complexes, embedded in the inner mitochondrial membrane (1) (Fig. 1). Complex I (NADH-coenzyme Q reductase) carries reducing equivalents from NADH to coenzyme Q (CoQ, ubiquinone) and consists of more than 40 different polypeptides, seven of which are encoded by mitochondrial DNA (mtDNA). Complex II (succinate-CoQ reductase) carries reducing equivalents from FADH to CoQ and contains four polypeptides, including the FAD-dependent succinate dehydrogenase and three iron-sulfur centers. This is the only complex that does not contain any mtDNA-encoded protein. Complex III (reduced CoQ-cytochrome c reductase) carries electrons from CoQ to cytochrome c . It contains 11 subunits, one of which (cytochrome

42. Oxford University Press - Genetics This international, edited book summarises the advances in human mitochondrial genetics made over the past decade and a half. In http://www.oup.com.au/content/General.asp?ContentID=249&MasterID=216

43. MDA / Quest 6-4 / Mitochondrial Myopathy -- An Energy Crisis In The Cells THE mitochondrial genetics MAZE. The inheritance patterns of the mitochondrial encephalomyopathies can be quite complicated. The http://www.mitoresearch.org/Quest_6_4a.htm

" MITOCHONDRIAL MYOPATHY: AN ENERGY CRISIS IN THE CELLS by Sharon Hesterlee THE MITOCHONDRIAL GENETICS MAZE The inheritance patterns of the mitochondrial encephalomyopathies can be quite complicated. The mutations that cause these diseases can be in the chromosomes; this is what's usually meant when people talk about a genetic or inherited disease. But mitochondrial encephalomyopathies have a unique situation. People can also inherit one of these diseases through mutations in the mitochondrial DNA (mtDNA), which comes from the mother only. Mitochondria are the only parts of the cells that have their own DNA, separate from that of the chromosomes in the cell's nucleus, called nuclear DNA. This situation occurs because the mitochondrial respiratory chain, which is the final step in the energy-making process, is made up of proteins that come from both nuclear and mtDNA (see illustration). Although only 13 of roughly 100 respiratory chain proteins come from the mtDNA, these 13 proteins contribute to every part of the respiratory chain except complex II, and 24 other mitochondrial genes are required just to manufacture those 13 proteins. Thus, a defect in either a nuclear gene or one of the 37 mitochondrial genes can cause the respiratory chain to break down. (This respiratory chain has nothing to do with breathing.) When mitochondrial disease is caused by defects in the nuclear DNA, the inheritance follows a "Mendelian" pattern, just as other inherited disorders do (named for Gregor Mendel, the 19th-century scientist who first explained inheritance). These inheritance patterns include autosomal dominant, autosomal recessive and X-linked. Leigh syndrome (caused by defects in complexes I and IV) is one of the most common forms of mitochondrial encephalomyopathy inherited in this fashion. It's usually autosomal recessive, meaning that two copies of the defective gene, one from each parent, are required to produce the disease.

44. Molecular Biology & Genetics At Cornell University, Ithaca, New York. plants. She also has a significant research involvement in the mitochondrial genetics of higher plants, notably Petunia. Charles http://www.mbg.cornell.edu/grad/gradhistG.html

HISTORY OF GENETICS AND DEVELOPMENT AT CORNELL UNIVERSITY Antonie Blackler The geneticists of the new Section were drawn, for the most part, from the Department of Plant Breeding. This Department had a distinguished history that could be traced back to the era of Rollins A. Emerson and his "school" of maize geneticists of the 1920s and '30s. Emerson's group carried out research that established maize as one of the best known 'genetic' organisms and worked out many extensions of Mendelian principles. Some of Emerson's students and others associated with his group went on to be the most influential geneticists of their generation the Nobel laureates George W. Beadle and Barbara McClintock, and the distinguished geneticists Milislav Demerec, Marcus Rhoades, George Sprague, Charles Burnham, and E.G. Anderson In 1964 the geneticists of the new Section were Bruce Wallace, a population geneticist who did his experimental work with Drosophila ; Harry Stinson, an Oenothera geneticist; and Adrian Srb, a fungal geneticist working primarily with Neurospora . The need for strength in the biochemical aspects of genetics was met by a new faculty appointment

45. NEJM -- Another Surprise From The Mitochondrial Genome Advances in the field of mitochondrial genetics have challenged the general principles of molecular biology on several occasions. http://content.nejm.org/cgi/content/short/347/8/609

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 347:609-612 August 22, 2002 Number 8 Next Another Surprise from the Mitochondrial Genome Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... PubMed Citation Advances in the field of mitochondrial genetics have challenged the general principles of molecular biology on several occasions. The universality of the genetic code that relates triplet-nucleotide sequences in DNA to specific amino acids in proteins was overturned by the discovery that the translation of mitochondrial proteins involves different coding rules. Studies of mitochondria led to the surprising discoveries of autocatalytic RNA (RNA with enzymatic activity in the absence of proteins), RNA editing (post-transcriptional modification of the nucleotide sequence in messenger RNA [mRNA]), and trans-splicing (the joining of two separate primary RNA transcripts to form a single mRNA molecule).

46. National Academy Of Sciences - Members Levings, CS North Carolina State University. Levings opened up the field and emerged as the major world figure in higher plant mitochondrial genetics. http://www4.nationalacademies.org/nas/naspub.nsf/(urllinks)/NAS-58N334?opendocum

47. OUP USA: Genetics Of Mitochondrial Diseases: Ian James Holt book is a new addition to the successful Oxford Monographs on Medical Genetics series, providing a comprehensive review of the area of mitochondrial genetics. http://www.oup.com/us/catalog/general/subject/Medicine/Genetics/?ci=0198508654&v

48. Modelling Mitochondrial Genetics Modelling mitochondrial genetics Mitochondria are the parts of the cell that generate energy. These cellular organelles contain http://www.math.umn.edu/~yjkim/biogroup/01sep1.html

Modelling Mitochondrial Genetics Mitochondria are the parts of the cell that generate energy. These cellular organelles contain their own DNA molecules, called mtDNA, with thousands of copies of these DNA molecules per cell. Mutations in the mtDNA cause many diseases, and are one possible cause of ageing at the cellular level. Our research models the changing levels of mutations in mtDNA in individual cells over a human lifetime. We use both analytic differential equations methods describing the system at the population level, and simulation methods at the individual molecule level.

49. Advanced Human Genetics MBG 7600 3/1/2002, F, Journal Club Multifactorial inheritance/ Linkage analysis, Tromp, 3/6/2002, W, mitochondrial genetics and human mitochondrial diseases, Grossman, http://www.genetics.wayne.edu/mbg7600/mbg7600_w2002.html

C ENTER for M OLECULAR M G ENETICS Wayne State University School of Medicine Advanced Human Genetics MBG 7600 (4 credits) Winter Term - 2002 Wednesdays and Fridays at 3:00-4:50 p.m., in 2268 Scott Hall Course coordinator: John Tomkiel , Ph.D., Assistant Professor 5117 Biological Sciences Building Tel. (313) 577-1976 Fax: (313) 577-6200 e-mail: jtomkiel@geneitcs.wayne.edu date day topic Lecturer W Course Introduction Tomkiel F Human Chromosomes I Feldman W Human Chromosomes II/Karyotype analysis Heng F Chromosome Structure/Organization Tomkiel W Imprinting Tomkiel F X inactivation Tomkiel W Journal club - chromosomes/epigenetic phenomena Tomkiel F Mutational Analysis I - mutagens Kuivaniemi W Mutational Analysis II - types Kuivaniemi F Journal Club - disease gene identification Kuivaniemi W DNA Linkage Analysis Barnholtz-Sloan F DNA Linkage Analysis Barnholtz-Sloan W Exam I lectures 1/9-2/8 F Multifactorial inheritance Tromp W Multifactorial inheritance Tromp F Journal Club - Multifactorial inheritance/ Linkage analysis Tromp W Mitochondrial Genetics and human mitochondrial diseases Grossman F Developmental Genetics - animal models/stem cells/trangeni cs Li W SPRING BREAK F SPRING BREAK W Journal club- animal models for human disease Li F Exam II lectures 2/13 -3/13 W Genetic Testing and risk assessment Greb F Preimplantation diagnoses/mutation detection Hughes W Neurogenetics Kamholz F Genome Analysis Finley W Gene Therapy Kuivaniemi F Human viruses Lancaster W Cancer genetics Tainsky F Cancer Genetics Tainsky W Final exam lectures 3/17 -4/19 CMMG Home Calendar Directory Facilities ... Wayne State University For more information, please send inquiries to:

50. Press Release mitochondrial genetics is improving our understanding of human evolution and prehistoric migratory patterns. In addition, mitochondrial http://www.mitokor.com/news/release/20020409

Home About MitoKor Science News ... Press Releases Full Text Careers Contact Us Search Press Release MitoKor Publishes Extensive Human Mitochondrial Genome Sequencing Study in The American Journal of Human Genetics Establishes publicly available database of human mitochondrial genome sequences SAN DIEGO, CA (April 9, 2002) - MitoKor today announced the publication of a large, wide ranging study analyzing the mitochondrial DNA sequences of more than 500 individuals of different ethnic origins in The American Journal of Human Genetics. The study succeeded in identifying novel patterns arising from geographically distinct subpopulations, and will form the basis of ongoing investigations aimed at uncovering the association of variations in mitochondrial DNA with diseases of aging such as Alzheimer's and type 2 diabetes mellitus. The data may be accessed at http://www.mitokor.com/science/560mtdnas.php The paper entitled: 'Reduced-median-network analysis of complete mitochondrial DNA coding region sequences for the major African, Asian, and European haplogroups,' outlines a large DNA sequencing study undertaken at MitoKor in collaboration with scientists from the University of Newcastle upon Tyne, England, the VA Medical Center and University of California, San Diego, and Massachusetts General Hospital, Harvard Medical School. The study analyzed mitochondrial DNA sequence variations between ethnically diverse populations providing important information concerning human molecular evolution and population genetics. This data will also form the basis from which to understand how changes in mitochondrial DNA sequence can affect susceptibility to disease.

51. Mitochondrial Research Interest Group, URMC Ph.D. Assistant Professor in Human Genetics and Director of mitochondrial genetics Laboratory, Cincinnati Children s Hospital Medical Center Nuclear Modifier http://www.urmc.rochester.edu/mrig/seminars2002.html

Home Faculty Profiles and Research Pages Seminars Courses ... Useful Links Seminars for 2002 June 5, 2002 Paul T. Schumacker, Ph.D. Professor, Department of Medicine, The University of Chicago "Role of Mitochondrial Oxidant Signaling in Endothelial Responses to Mechanical Strain" June 19, 2002 Keshav Singh, Ph.D. Assistant Professor of Oncology, Johns Hopkins University School of Medicine "Mitochondria, Oxidative Stress and Genetic Instability" June 26, 2002 Jahar Bhattacharya, M.D., D. Phil. Professor of Clinical Physiological Medicine, Columbia University "Mitochondrial Transduction of Proinflammatory Signaling in Lung Capillary" July 15, 2002 Min-Xin Guan, Ph.D. Assistant Professor in Human Genetics and Director of Mitochondrial Genetics Laboratory, Cincinnati Children's Hospital Medical Center "Nuclear Modifier Genes and Aminoglycosides Modulate the Phenotypic Expression of the Deafness-Linked Mitochondrial 12S rRNA Mutation"

52. UCI Ecology And Evolutionary Biology Life Foundation Award for Medical Research in Alzheimer s Disease 2000 Passano Award 2000 for mitochondrial genetics, with Guiseppi Attardi 2000 Docteur http://ecoevo.bio.uci.edu/Faculty/Wallace/wallace.html

University of California, Irvine Ecology and Evolutionary Biology Mail to: Ecology and Evolution 321 Steinhaus Hall University of California Irvine,CA 92697 USA 949 824-2181 (fax) Douglas Wallace Donald Bren Professor of Molecular Medicine Director of the Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG) Evolutionary Biology, Genetics, Mitochondrial Medicine, Anthropology email: dwallace@uci.edu Research Interests Evolutionary Biology, Genetics, Mitochondrial Medicine, Anthropology Degrees Honors and Awards 1994 William Allan Award, American Society of Human Genetics 1995 Member of National Academy of Sciences 2000 Metropolitan Life Foundation Award for Medical Research in Alzheimer's Disease 2000 Passano Award 2000 for mitochondrial genetics, with Guiseppi Attardi 2000 Docteur Honoris Causa, Universite Victor Segalen Bordeaux 2

53. CMGS-Mitochondrial Diseases (2)/28.11.00 Nature Genetics 14 p146150. Lightowlers et al., (1997) Mammalian mitochondrial genetics hereditary, heteroplasmy and disease. TIG vol 13, p450-454. http://www.ich.ucl.ac.uk/cmgs/mt2inh00.htm

Complex Inheritance - MRCPath course 2000-2001 Mitochondrial diseases (2) Segregation of mitochondria/ mitochondrial bottlenecks There is no strict definition for mitochondrial bottleneck. It has been described as an event, a series of events, at one or several stages of oogenesis. mtDNA molecules are selectively sampled from a large population for transmission and amplification. Recent reports indicate that recombination does not occur in mtDNA, therefore a different mechanism must account for genetic variation. A possible mechanism is a "bottleneck", ie. reduction in the number of mtDNA molecules during oogenesis. Followed by a rapid increase in mature oocytes (>100,000 copies). At some point the number of mtDNA molecules must decrease again to approx. 200 copies per cells in the oogonium. 1982- Study using Holstein cows. Using 2 neutral mtDNA genotypes cotransmitted through successive generations, it was reported that mtDNA could switch to homoplasmy for one of the genotypes within 2 generations. Estimated that there were 20-100 segregating units per cell, which is a dramatic reduction in mtDNA molecules compared with normal cells, therefore, during oogenesis there is a reduction in the number of mtDNA molecules = the bottleneck.

54. European Science Foundation Workshop On "Trends In Mitochondrial Pharmacology An attention will be put to mitochondria as a target for various therapeutically applied substances and achievements in mitochondrial genetics and mitochondrially http://www.nencki.gov.pl/iiclab/esf.html

Invitation Scientific/Organizing Committee Participants Updated Programme ... First announcement Second announcement Fellowship info (in Polish) Practical information Accomodation ... Weather in Warsaw Number of visits on the site: Last modified: Webmaster: Wojciech Wojtowicz wwojtowi@ibb.waw.pl European Science Foundation workshop on Trends in Mitochondrial Pharmacology and Genetics 9-12 May 2003, Warsaw-M±dralin, POLAND Organizer: Nencki Institute of Experimental Biology Invitation The purpose of the Workshop will be to sum up recent state of our knowledge on mitochondrial functions within the cell with the numerous aspects of cell energetics, development and transformation. Special attention will be put to mitochondria as a target for various therapeutically applied substances and achievements in mitochondrial genetics and mitochondrially based diseases. This exchange of information, ideas and experience will form a basis for European scientific collaboration.

55. Obsah JAB The chromosome end replication lessons from mitochondrial genetics Jozef Nosek, Lubomir Tomaska and Blanka Kucejova Address Jozef Nosek, Department of http://www.zsf.jcu.cz/vyzkum/jab/2_2/nosek.htm

Journal of APPLIED BIOMEDICINE ISSN 1214-0287 (on-line) ISSN 1214-021X (printed) Volume 2, No. 2 (2004) The chromosome end replication: lessons from mitochondrial genetics Jozef Nosek, Lubomir Tomaska and Blanka Kucejova Address: Jozef Nosek, Department of Biochemistry, Faculty of Natural Sciences, Comenius University, Mlynská dolina CH-1, 842 15 Bratislava, Slovak Republic nosek@fns.uniba.sk Full paper (pdf) Received 30th May 2003. Published online 16th July 2003. Summary Keywords: end-replication problem – linear mitochondrial DNA – telomere – replication – evolution BACK

56. Mitochondrial Biogenesis And Genetics, Part B Features This volume covers methodology used in Mitochondrial gene expression mitochondrial genetics and gene manipulation Mitochondrial diseases and aging. http://www.harcourt-international.com/catalogue/title.cfm?ISBN=012182165X

57. Highlight_archive2000_mf.html 84 . mitochondrial genetics A clever way to model defects . . . 84 . mitochondrial genetics . . . and a new way to rescue them. 85 . http://www.nature.com/nrg/archive/highlight_archive2000_mf.html

ARCHIVE December 2000 Vol 1 No 3 HIGHLIGHTS PDF EVOLUTION Same rates for neighbours IN BRIEF POPULATION GENETICS Founding populations: Colombian blend? BIOINFORMATICS Mining gene expression data WEB WATCH Homophila WEB WATCH Genetic testing 1, 2, 3 PLANT GENETICS If winter comes, will flowers follow? MALARIA Resisting drugs HUMAN GENETICS New light on night blindness DEVELOPMENTAL BIOLOGY Headless Hydra get Heady CANCER The trouble with smoking SEX DETERMINATION It's a guy thing IN BRIEF November 2000 Vol 1 No 2 HIGHLIGHTS PDF LINKAGE DISEQUILIBRIUM Highs and lows WEB WATCH MITOCHONDRIAL GENETICS A clever way to model defects . . . MITOCHONDRIAL GENETICS . . . and a new way to rescue them IN BRIEF DISEASE SUSCEPTIBILITY That damned elusive polygene VIRAL EVOLUTION Not such a variable clock? DEVELOPMENTAL BIOLOGY Nodal signalling gets foxy WEB WATCH Golden path to genome IN BRIEF AGEING Counting the calories to immortality SPERMATOGENESIS Give me a break EVO-DEVO A leg-up for crickets October 2000 Vol 1 No 1 HIGHLIGHTS PDF HUMAN GENETICS Tuning in to perfect pitch WEB WATCH Genetics policy HUMAN GENETICS Expanding insight into myotonic dystrophy GENOME EVOLUTION Arabidopsis 4, Tomato 1

58. SCU | Centre For Animal Conservation Genetics Susan Fuller Molecular phylogenetics of the world s goannas. Fiona Harriss - PhD mitochondrial genetics of island populations of the Australian bush rat. http://www.scu.edu.au/research/cacg/ppstudies.html

Past studies Nick Campbell - PhD: Mitochondrial Control Region variation in two genera of Australian rodents; Melomys and Uromys. Application to phylogenetics, phylogeography and conservation. Jenny Seddon - MSc: Molecular phylogeny of the Gondwanan turtles Tania Dow - BSc Hons: Maternal population genetic structure of the endangered Hastings River mouse Steve Garland - BSc Hons: Myoglobin intron variation in Australian Rattus Dean Jerry - PhD: Population ecology and genetics of the Australian bass, Macquaria novemaculeata. Toni Pacey - BSc Hons: Molecular evolutionary relationships of the marsupials: superfamily Peramelomorphia. Carol Todd - MSc: Population genetics of buffalo fly in Australia. Susan Fuller - Molecular phylogenetics of the world's goannas. Fiona Harriss - PhD: Mitochondrial genetics of island populations of the Australian bush rat. Jenny Seddon - PhD: Mhc variation in island populations of the Australian bush rat.

59. MU IPG Faculty: Kathleen J. Newton Biological Sciences 105 Tucker Hall University of MissouriColumbia Columbia, MO 65211. Website Plant molecular genetics and mitochondrial genetics. http://www.plantgroup.org/faculty-view.php?id=26

60. OUP: Genetics Of Mitochondrial Diseases: Holt Genetics of Mitochondrial diseases. This international edited book summarises the advances in human mitochondrial genetics made over the past decade and a half. http://www.oup.co.uk/isbn/0-19-850865-4

VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences World's Classics UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Genetics of Mitochondrial diseases Edited by Ian James Holt Publication date: 3 July 2003 374 pages, 2pp colour plates, numerous tables and figures, 240mm x 165mm Series: Oxford Monographs on Medical Genetics Search for titles in the same series Ordering Individual customers order by phone, post, or fax Teachers in UK and European schools (and FE colleges in the UK): order by phone, post, or fax Explains the genetic basis of mitochondrial diseases enabling the reader to understand why mitochondrial diseases often do not follow the pattern of transmission of other forms of disease Integrates clinical and molecular aspects of the diseases indicating why the diseases manifest in particular forms Summarises 15 years of work in a field for which there is little information in other books Description The publication of Genetics of Mitochondrial Diseases . . . is well timed to take account of recent advances in this specialty . . . I highly recommend this book . . . Basic scientists

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