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Wyświetlanie 1-20 z 20
Tytuł:
Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
Autorzy:
Onoufriadis, A
Hjeij, R
Watson, CM
Slagle, CE
Klena, NT
Dougherty, GW
Kurkowiak, M
Loges, NT
Diggle, CP
Morante, NF
Gabriel, GC
Lemke, KL
Li, Y
Pennekamp, P
Menchen, T
Marthin, JK
Mans, D
Letteboer, SJ
Werner, C
Burgoyne, T
Westermann, C
Rutman, A
Carr, IM
O'Callaghan, C
Moya, E
Chung, EMK
Sheridan, E
Nielsen, KG
Roepman, R
Burdine, RD
Lo, CW
Omran, H
Mitchison, H
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Źródło:
Cilia; December 2015, Vol. 4 Issue: Supplement 1 p1-1, 1p
Periodyk
Tytuł:
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.
Autorzy:
Willgoss T; Roche Products Limited, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK. .
Cassater D; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Connor S; Roche Products Limited, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK.
Krishnan ML; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Miller MT; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Dias-Barbosa C; Evidera, Hammersmith, London, UK.
Phillips D; Division of Physical Therapy, School of Medicine, University of North Carolina, Chapel Hill, NC, USA.
McCormack J; Evidera, Patient-Centered Research, Bethesda, MD, USA.
Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.
Burdine RD; Department of Molecular Biology, Princeton University, Princeton, NJ, USA.
Claridge S; Foundation for Angelman Syndrome Research (FAST), Downers Grove, IL, USA.
Bichell TJ; Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, Nashville, TN, USA.
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Źródło:
Child psychiatry and human development [Child Psychiatry Hum Dev] 2021 Aug; Vol. 52 (4), pp. 654-668.
Typ publikacji:
Journal Article
MeSH Terms:
Angelman Syndrome*
Caregivers ; Humans ; Models, Theoretical ; Patient-Centered Care ; Qualitative Research
Czasopismo naukowe
Tytuł:
Guidelines for morpholino use in zebrafish.
Autorzy:
Stainier DYR; Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
Raz E; Institute of Cell Biology, ZBME, University of Münster, Münster, Germany.
Lawson ND; Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America.
Ekker SC; Mayo Clinic, Rochester, Minnesota, United States of America.
Burdine RD; Department of Molecular Biology, Princeton University, Princeton, New Jersey, United States of America.
Eisen JS; Institute of Neuroscience, University of Oregon, Eugene, Oregon, United States of America.
Ingham PW; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.; The Living Systems Institute, University of Exeter, Exeter, United Kingdom.
Schulte-Merker S; Institute of Cardiovascular Organogenesis and Regeneration, WWU Münster, Faculty of Medicine, Münster, Germany.
Yelon D; Division of Biological Sciences, University of California, San Diego, La Jolla, California, United States of America.
Weinstein BM; Division of Developmental Biology, NICHD, NIH, Bethesda, Maryland, United States of America.
Mullins MC; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Wilson SW; Department of Cell and Developmental Biology, University College London, London, United Kingdom.
Ramakrishnan L; Molecular Immunity Unit, Department of Medicine, University of Cambridge, MRC Laboratory of Molecular Biology, Cambridge, United Kingdom.
Amacher SL; Departments of Molecular Genetics and Biological Chemistry and Pharmacology, Ohio State University, Columbus, Ohio, United States of America.
Neuhauss SCF; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
Meng A; School of Life Sciences, Tsinghua University, Beijing, China.
Mochizuki N; National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
Panula P; Department of Anatomy and Neuroscience Center, University of Helsinki, Helsinki, Finland.
Moens CB; Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2017 Oct 19; Vol. 13 (10), pp. e1007000. Date of Electronic Publication: 2017 Oct 19 (Print Publication: 2017).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Techniques/*standards
Morpholinos/*genetics
Zebrafish/*genetics
Animals ; Female ; Male ; Morpholinos/adverse effects
Czasopismo naukowe
Tytuł:
Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature.
Autorzy:
Grimes DT; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
Boswell CW; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada. Department of Molecular Genetics, The University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Morante NF; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
Henkelman RM; Mouse Imaging Centre, The Hospital for Sick Children, 25 Orde Street, Toronto, Ontario M5T 3H7, Canada. Department of Medical Biophysics, The University of Toronto, Toronto, Ontario M5G 2M9, Canada.
Burdine RD; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
Ciruna B; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada. Department of Molecular Genetics, The University of Toronto, Toronto, Ontario M5S 1A8, Canada.
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Źródło:
Science (New York, N.Y.) [Science] 2016 Jun 10; Vol. 352 (6291), pp. 1341-4.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Models, Animal*
Cerebrospinal Fluid/*physiology
Scoliosis/*cerebrospinal fluid
Scoliosis/*physiopathology
Spine/*abnormalities
Zebrafish/*abnormalities
Animals ; Animals, Genetically Modified ; Cilia/physiology ; Ependyma/abnormalities ; Hydrocephalus/genetics ; Hydrocephalus/pathology ; Mutation ; Receptor Protein-Tyrosine Kinases/genetics ; Scoliosis/genetics ; Zebrafish/cerebrospinal fluid ; Zebrafish/genetics ; Zebrafish Proteins
Czasopismo naukowe
Tytuł:
Integration of nodal and BMP signals in the heart requires FoxH1 to create left-right differences in cell migration rates that direct cardiac asymmetry.
Autorzy:
Lenhart KF; Department of Molecular Biology, Princeton University, Princeton, New Jersey, USA.
Holtzman NG
Williams JR
Burdine RD
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Źródło:
PLoS genetics [PLoS Genet] 2013; Vol. 9 (1), pp. e1003109. Date of Electronic Publication: 2013 Jan 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Bone Morphogenetic Protein 4*/genetics
Bone Morphogenetic Protein 4*/metabolism
Forkhead Transcription Factors*/genetics
Forkhead Transcription Factors*/metabolism
Heterotaxy Syndrome*
Zebrafish Proteins*/genetics
Zebrafish Proteins*/metabolism
Body Patterning/*genetics
Heart/*growth & development
Animals ; Cell Movement ; Gene Expression Regulation, Developmental ; Heart Defects, Congenital ; Humans ; Left-Right Determination Factors ; Nodal Signaling Ligands/genetics ; Nodal Signaling Ligands/metabolism ; Signal Transduction/genetics ; Zebrafish/genetics ; Zebrafish/metabolism
SCR Disease Name:
Left-Right Axis Malformations
Czasopismo naukowe
Tytuł:
Functional knowledge transfer for high-accuracy prediction of under-studied biological processes.
Autorzy:
Park CY; Department of Computer Science, Princeton University, Princeton, New Jersey, USA.
Wong AK
Greene CS
Rowland J
Guan Y
Bongo LA
Burdine RD
Troyanskaya OG
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2013; Vol. 9 (3), pp. e1002957. Date of Electronic Publication: 2013 Mar 14.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Biological Phenomena*
Models, Biological*
Computational Biology/*methods
Animals ; Bayes Theorem ; Caenorhabditis elegans ; Drosophila melanogaster ; Embryo, Nonmammalian ; Embryonic Development ; Genes ; Humans ; Mice ; Models, Statistical ; Rats ; Sequence Analysis, DNA ; Support Vector Machine ; Zebrafish
Czasopismo naukowe
Tytuł:
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Autorzy:
Panizzi JR; Nephrology Division, Massachusetts General Hospital, Charlestown, Massachusetts, USA.
Becker-Heck A
Castleman VH
Al-Mutairi DA
Liu Y
Loges NT
Pathak N
Austin-Tse C
Sheridan E
Schmidts M
Olbrich H
Werner C
Häffner K
Hellman N
Chodhari R
Gupta A
Kramer-Zucker A
Olale F
Burdine RD
Schier AF
O'Callaghan C
Chung EM
Reinhardt R
Mitchison HM
King SM
Omran H
Drummond IA
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2012 May 13; Vol. 44 (6), pp. 714-9. Date of Electronic Publication: 2012 May 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Dyneins/*metabolism
Kartagener Syndrome/*genetics
Animals ; Cilia/metabolism ; Female ; Humans ; Male ; Mutation ; Pedigree ; Zebrafish
Czasopismo naukowe
Tytuł:
Nodal-dependent mesendoderm specification requires the combinatorial activities of FoxH1 and Eomesodermin.
Autorzy:
Slagle CE; Department of Molecular Biology, Princeton University, Princeton, New Jersey, United States of America.
Aoki T
Burdine RD
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Źródło:
PLoS genetics [PLoS Genet] 2011 May; Vol. 7 (5), pp. e1002072. Date of Electronic Publication: 2011 May 26.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Forkhead Transcription Factors/*metabolism
T-Box Domain Proteins/*metabolism
Zebrafish/*genetics
Zebrafish Proteins/*metabolism
Alleles ; Animals ; Body Patterning ; Chromosome Mapping ; Embryo, Nonmammalian/embryology ; Embryo, Nonmammalian/metabolism ; Epistasis, Genetic ; Forkhead Transcription Factors/genetics ; Gene Expression Regulation, Developmental ; Gene Knockdown Techniques ; Genotype ; Homeodomain Proteins/metabolism ; Mesoderm/embryology ; Mutation ; Notochord/embryology ; Notochord/metabolism ; Phenotype ; Signal Transduction ; Transcription Factors/metabolism ; Zebrafish/embryology ; Zebrafish/metabolism ; Zebrafish Proteins/genetics
Czasopismo naukowe
Tytuł:
The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes.
Autorzy:
Fogelgren B; Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Lin SY
Zuo X
Jaffe KM
Park KM
Reichert RJ
Bell PD
Burdine RD
Lipschutz JH
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2011 Apr; Vol. 7 (4), pp. e1001361. Date of Electronic Publication: 2011 Apr 07.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Polycystic Kidney Diseases/*genetics
Polycystic Kidney Diseases/*metabolism
TRPP Cation Channels/*metabolism
Vesicular Transport Proteins/*metabolism
Zebrafish Proteins/*metabolism
Animals ; Carrier Proteins/metabolism ; Cell Line ; Cilia/genetics ; Cilia/metabolism ; Dogs ; Enzyme Activation/genetics ; Gene Expression Regulation, Developmental ; Gene Knockdown Techniques ; HEK293 Cells ; Humans ; Kidney/embryology ; Kidney/pathology ; Mice ; Mitogen-Activated Protein Kinase Kinases/metabolism ; Models, Biological ; Polycystic Kidney Diseases/pathology ; Protein Binding ; TRPP Cation Channels/deficiency ; Tumor Suppressor Proteins/metabolism ; Vesicular Transport Proteins/genetics ; Zebrafish ; Zebrafish Proteins/genetics
Czasopismo naukowe
Tytuł:
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Autorzy:
Becker-Heck A; Department of Pediatrics, University Hospital Freiburg, Freiburg, Germany.
Zohn IE
Okabe N
Pollock A
Lenhart KB
Sullivan-Brown J
McSheene J
Loges NT
Olbrich H
Haeffner K
Fliegauf M
Horvath J
Reinhardt R
Nielsen KG
Marthin JK
Baktai G
Anderson KV
Geisler R
Niswander L
Omran H
Burdine RD
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2011 Jan; Vol. 43 (1), pp. 79-84. Date of Electronic Publication: 2010 Dec 05.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Ciliary Motility Disorders/*genetics
Proteins/*genetics
Animals ; Cilia/genetics ; Dyneins/genetics ; Humans ; Kartagener Syndrome/genetics ; Mice ; Mice, Inbred Strains ; Mutation ; Proteins/physiology ; Situs Inversus/genetics ; Zebrafish/embryology ; Zebrafish/genetics ; Zebrafish Proteins/genetics
Czasopismo naukowe
Tytuł:
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome.
Autorzy:
Daily JL; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida, United States of America.
Nash K
Jinwal U
Golde T
Rogers J
Peters MM
Burdine RD
Dickey C
Banko JL
Weeber EJ
Pokaż więcej
Źródło:
PloS one [PLoS One] 2011; Vol. 6 (12), pp. e27221. Date of Electronic Publication: 2011 Dec 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Angelman Syndrome/*complications
Cognition Disorders/*complications
Dependovirus/*metabolism
Angelman Syndrome/physiopathology ; Animals ; Anxiety/physiopathology ; Association Learning/physiology ; Cognition Disorders/physiopathology ; Disease Models, Animal ; HEK293 Cells ; Humans ; Long-Term Potentiation ; Maze Learning/physiology ; Mice ; Motor Activity/physiology ; Ubiquitin-Protein Ligases/metabolism
Czasopismo naukowe
    Wyświetlanie 1-20 z 20

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