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Wyświetlanie 1-8 z 8
Tytuł :
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.
Autorzy :
Ding F; Department of Genetics, Stanford University, Stanford, California, USA.
Li HH
Zhang S
Solomon NM
Camper SA
Cohen P
Francke U
Pokaż więcej
Źródło :
PloS one [PLoS One] 2008 Mar 05; Vol. 3 (3), pp. e1709. Date of Electronic Publication: 2008 Mar 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
Growth Disorders/*genetics
Hyperphagia/*genetics
Prader-Willi Syndrome/*genetics
RNA, Small Nucleolar/*genetics
Animals ; Animals, Newborn ; Behavior, Animal ; Blotting, Southern ; Disease Models, Animal ; Energy Metabolism ; Enzyme-Linked Immunosorbent Assay ; Female ; Ghrelin/blood ; Growth Disorders/pathology ; Hyperphagia/pathology ; Immunoenzyme Techniques ; Insulin-Like Growth Factor I/metabolism ; Integrases/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Oxygen Consumption ; Prader-Willi Syndrome/pathology ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Reverse Transcriptase Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.
Autorzy :
Ding F; Department of Genetics, Stanford University, Stanford, California 94305, USA.
Prints Y
Dhar MS
Johnson DK
Garnacho-Montero C
Nicholls RD
Francke U
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Źródło :
Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2005 Jun; Vol. 16 (6), pp. 424-31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Disease Models, Animal*
Prader-Willi Syndrome/*genetics
Prader-Willi Syndrome/*physiopathology
RNA, Small Nucleolar/*genetics
RNA, Small Nucleolar/*metabolism
Animals ; Animals, Newborn ; Base Sequence ; Brain/metabolism ; Chromosome Deletion ; Gene Expression Regulation ; Humans ; Male ; Mice ; Molecular Sequence Data ; Prader-Willi Syndrome/complications ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sequence Alignment ; Survival Rate
Czasopismo naukowe
Tytuł :
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
Autorzy :
Schüle B; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. />Albalwi M
Northrop E
Francis DI
Rowell M
Slater HR
Gardner RJ
Francke U
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Źródło :
BMC medical genetics [BMC Med Genet] 2005 May 06; Vol. 6, pp. 18. Date of Electronic Publication: 2005 May 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Chromosome Breakage/*genetics
Chromosomes, Human, Pair 15/*genetics
Chromosomes, Human, Pair 4/*genetics
Cloning, Molecular/*methods
Gene Expression Regulation/*genetics
Prader-Willi Syndrome/*genetics
Translocation, Genetic/*genetics
Adult ; Antigens, Neoplasm ; Autoantigens ; Blotting, Southern/methods ; Chromosome Mapping/methods ; Cytogenetic Analysis/methods ; DNA Methylation ; Expressed Sequence Tags ; Humans ; Introns/genetics ; Male ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Nucleotides/genetics ; Phenotype ; Proteins/genetics ; RNA, Small Nucleolar/genetics ; Ribonucleoproteins/genetics ; Ribonucleoproteins, Small Nuclear/genetics ; Ubiquitin-Protein Ligases ; snRNP Core Proteins
Czasopismo naukowe
Tytuł :
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
Autorzy :
Gallagher RC; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Pils B
Albalwi M
Francke U
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Źródło :
American journal of human genetics [Am J Hum Genet] 2002 Sep; Vol. 71 (3), pp. 669-78. Date of Electronic Publication: 2002 Jul 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Chromosome Deletion*
Gene Expression Regulation*
Chromosome Breakage/*genetics
Multigene Family/*genetics
Prader-Willi Syndrome/*genetics
RNA, Small Nucleolar/*genetics
Adult ; Angelman Syndrome/genetics ; Child ; Female ; Fibroblasts/metabolism ; Humans ; Hybrid Cells/metabolism ; In Situ Hybridization, Fluorescence ; Lymphocytes/metabolism ; Male ; Organ Specificity ; Phenotype ; RNA, Small Nucleolar/analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Transcription, Genetic/genetics ; Translocation, Genetic/genetics
Czasopismo naukowe
Tytuł :
Neonatal Maternal Deprivation Response and Developmental Changes in Gene Expression Revealed by Hypothalamic Gene Expression Profiling in Mice.
Autorzy :
Feng Ding
Hong Hua Li
Jun Li
Myers, Richard M.
Francke, Uta
Pokaż więcej
Temat :
GENETIC regulation
GENE expression
MENTAL disabilities
METABOLIC disorders
BODY weight
PRADER-Willi syndrome
FAILURE to thrive syndrome
LIMBIC system
GENETIC disorders
Źródło :
PLoS ONE; 2010, Vol. 5 Issue 2, p1-11, 11p, 1 Diagram, 1 Chart, 2 Graphs
Czasopismo naukowe
Tytuł :
SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice.
Autorzy :
Feng Ding
Hong Hua Li
Shengwen Zhang
Solomon, Nicola M.
Camper, Sally A.
Cohen, Pinchas
Francke, Uta
Pokaż więcej
Temat :
PRADER-Willi syndrome
OBESITY
MUSCLE hypotonia
INBORN errors of metabolism
HYPOGONADISM
GENE expression
HUMAN growth hormone
SOMATOTROPIN
HYPERPHAGIA
LABORATORY mice
Źródło :
PLoS ONE; 2008, Vol. 3 Issue 3, p1-18, 18p, 1 Chart, 6 Graphs
Czasopismo naukowe
Tytuł :
Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain.
Autorzy :
de los Santos, Tala
Schweizer, Johannes
Rees, Christian A.
Francke, Uta
Pokaż więcej
Temat :
GENOMIC imprinting
PRADER-Willi syndrome
Źródło :
American Journal of Human Genetics. Nov2000, Vol. 67 Issue 5. 11 Diagrams, 2 Charts.
Czasopismo naukowe
    Wyświetlanie 1-8 z 8

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