المؤلفون: Lindstrand, A, Frangakis, S, Carvalho, CMB, Richardson, EB, McFadden, KA, Willer, JR, Pehlivan, D, Liu, PF, Pediaditakis, IL, Sabo, A, Lewis, RA, Banin, E, Lupski, JR, Davis, EE, Katsanis, N

المصدر: American journal of human genetics. 99(2):318-336

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134044336

المؤلفون: Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R

المصدر: Cilia; December 2015, Vol. 4 Issue: Supplement 1 p1-1, 1p

المؤلفون: Maria Kousi, Jason R. Willer, Vincenzo La Bella, Guy A. Rouleau, Jay P. Ross, Patrick A. Dion, Sali M.K. Farhan, Mark J. Daly, Nicholas Katsanis, Benjamin M. Neale, Rossella Spataro

المساهمون: Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N, Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-10 (2019)
Human Genomics

مصطلحات موضوعية: Male, Amyotrophic lateral sclerosis, ATP13A2, parkinsonism, lcsh:Medicine, 0302 clinical medicine, C9orf72, Drug Discovery, Amyotrophic lateral sclerosis, Index case, Zebrafish, Exome sequencing, Motor Neurons, Genetics, 0303 health sciences, DEMENTIA, 1184 Genetics, developmental biology, physiology, Middle Aged, Pedigree, 3. Good health, Proton-Translocating ATPases, Phenotype, Molecular Medicine, Female, Settore MED/26 - Neurologia, Primary Research, Adult, lcsh:QH426-470, SOD1, Biology, TARDBP, 03 medical and health sciences, Parkinsonian Disorders, Neuronal Ceroid-Lipofuscinoses, Exome Sequencing, medicine, Animals, Humans, Genetic Predisposition to Disease, Molecular Biology, 030304 developmental biology, Genetic heterogeneity, Amyotrophic Lateral Sclerosis, lcsh:R, medicine.disease, Disease Models, Animal, lcsh:Genetics, Mutation, Neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, PARKINSONISM

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ec9a3c43eeb50ac77081fa9cadb97
http://hdl.handle.net/10447/436117

المؤلفون: Boldt, Karsten, van Reeuwijk, Jeroen, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Lu, Qianhao, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Koutroumpas, Konstantinos, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Nguyen, Thanh-Minh T, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Texier, Yves, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald, Group, UK10K Rare Diseases, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, van Beersum, Sylvia E C, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Horn, Nicola, Reghan Foley, A., Franklin, Chris, Futema, Marta, Humphries, Steve E, Hurles, Matt, Joyce, Chris, McCarthy, Shane, Mitchison, Hannah M, Muddyman, Dawn, Muntoni, Francesco, Willer, Jason R, O'Rahilly, Stephen, Onoufriadis, Alexandros, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B, Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Mans, Dorus A, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ros, Williamson, Kathy

المساهمون: Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, Tmt, Texier, Y, van Beersum, Sec, Horn, N, Willer, Jr, Mans, Da, Dougherty, G, Lamers, Ijc, Coene, Klm, Arts, Hh, Betts, Mj, Beyer, T, Bolat, E, Gloeckner, Cj, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, Sjf, Marcelis, Cl, Mitic, D, Morleo, M, Oud, Mm, Riemersma, M, Rix, S, Terhal, Pa, Toedt, G, van Dam, Tjp, de Vrieze, E, Wissinger, Y, Wu, Km, Apic, G, Beales, Pl, Blacque, Oe, Gibson, Tj, Huynen, Ma, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, Ee, Franco, B, Giles, Rh, Ueffing, M, Russell, Rb, Roepman, R, Boldt, Karsten, Van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantino, Nguyen, Thanh Minh T., Texier, Yve, Van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johanne, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, Van Dam, Teunis J. P., De Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Al Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inê, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chri, Futema, Marta, Humphries, Steve E., Hurles, Matt, Joyce, Chri, Mccarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, O'Rahilly, Stephen, Onoufriadis, Alexandro, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Serra, Eva, Stalker, Jim, Van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ro, Williamson, Kathy, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nichola, Kremer, Hannie, Omran, Heymut, Van Wijk, Erwin, Wolfrum, Uwe, Kepes, Françoi, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Mariu, Russell, Robert B., Roepman, Ronald

المصدر: Nature Communications 7(1), 11491 (2016). doi:10.1038/ncomms11491
Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T M T, Texier, Y, Van Beersum, S E C, Horn, N, Willer, J R, Mans, D A, Dougherty, G, Lamers, I J C, Coene, K L M, Arts, H H, Betts, M J, Beyer, T, Bolat, E, Gloeckner, C J, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, S J F, Marcelis, C L, Mitic, D, Morleo, M, Oud, M M, Riemersma, M, Rix, S, Terhal, P A, Toedt, G, Van Dam, T J P, De Vrieze, E, Wissinger, Y, Wu, K M, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A R, Franklin, C, Futema, M, Humphries, S E, Hurles, M, Joyce, C, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, Van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K, Apic, G, Beales, P L, Blacque, O E, Gibson, T J, Huynen, M A, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, E E, Franco, B, Giles, R H, Ueffing, M, Russell, R B & Roepman, R 2016, ' An organelle-specific protein landscape identifies novel diseases and molecular mechanisms ', Nature Communications, vol. 7, 11491 . https://doi.org/10.1038/ncomms11491
Nat. Commun. 7:11491 (2016)
Nature Communications
Nature Communications, 7, 11491-11491
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications, 7, pp. 11491-11491

مصطلحات موضوعية: Proteomics, 0301 basic medicine, Systems Analysis, DNA Mutational Analysis, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], General Physics and Astronomy, Datasets as Topic, methods [Chromatography, Affinity], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Chromatography, Affinity, Mass Spectrometry, Protein Interaction Mapping, therapy [Ciliopathies], genetics [Ciliopathies], methods [Molecular Targeted Therapy], Molecular Targeted Therapy, Protein Interaction Maps, Multidisciplinary, Cilium, Chemistry (all), abnormalities [Spine], pathology [Ciliopathies], genetics [Muscle Hypotonia], therapy [Muscle Hypotonia], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], metabolism [Proteins], isolation & purification [Proteins], physiology [Biological Transport], 3. Good health, Cell biology, Vesicular transport protein, pathology [Dwarfism], metabolism [Cilia], Muscle Hypotonia, ddc:500, pathology [Muscle Hypotonia], pathology [Spine], genetics [Dwarfism], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Science, Dwarfism, Exocyst, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Physics and Astronomy (all), 03 medical and health sciences, Intraflagellar transport, Ciliogenesis, Organelle, Humans, Cilia, Biochemistry, Genetics and Molecular Biology (all), Proteins, Biological Transport, General Chemistry, therapy [Dwarfism], Fibroblasts, genetics [Proteins], Ciliopathies, Spine, methods [Protein Interaction Mapping], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Proteostasis, HEK293 Cells, methods [Proteomics]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed822a01064aab67a40c84234dc2fc74
https://pub.dzne.de/record/138561

المؤلفون: Fellmann F; The ColLaboratory, University of Lausanne, Lausanne, Switzerland., Saunders C; School of Medicine, University of Missouri Kansas City, Kansas City, United States of America., O'Donohue MF; Center for Integrative Biology, University of Toulouse, Toulouse, France., Reid DW; Department of Biochemistry, Duke University Medical Center, Durham, United States of America., McFadden KA; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Montel-Lehry N; Center for Integrative Biology, University of Toulouse, Toulouse, France., Yu C; BGI-Shenzhen, Shenzhen, China., Fang M; BGI-Shenzhen, Shenzhen, China., Zhang J; BGI-Shenzhen, Shenzhen, China., Royer-Bertrand B; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Farinelli P; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Karboul N; UMR 1149 INSERM, Faculté de Médecine Site Bichat, Paris, France., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Bhuiyan ZA; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Kleinhenz AL; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Jadeau J; Center for Integrative Biology, University of Toulouse, Toulouse, France., Fulbright J; Division of Hematology/Oncology, Children's Mercy Hospital and Clinics, Kansas City, United States of America., Rivolta C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Renella R; Division of Pediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Beckmann JS; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Nicchitta CV; Department of Biochemistry, Duke University Medical Center, Durham, United States of America., Da Costa L; Service d'Hématologie Biologique, Hôpital Robert Debré, AP-HP, Paris, France., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, United States of America., Gleizes PE; Center for Integrative Biology, University of Toulouse, Toulouse, France.

المصدر: JCI insight [JCI Insight] 2024 Aug 01. Date of Electronic Publication: 2024 Aug 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

المؤلفون: Levic DS; Department of Cell Biology, Duke University, Durham, NC, USA., Niedzwiecki D; Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC, USA., Kandakatla A; Division of Gastroenterology, Department of Medicine, Duke University, Durham, NC, USA., Karlovich NS; Division of Gastroenterology, Department of Medicine, Duke University, Durham, NC, USA., Juneja A; Department of Cell Biology, Duke University, Durham, NC, USA., Park J; Department of Cell Biology, Duke University, Durham, NC, USA., Stolarchuk C; Division of Gastroenterology, Department of Medicine, Duke University, Durham, NC, USA., Adams S; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA., Schaner MR; Center for Gastrointestinal Biology and Disease, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Lian G; Center for Gastrointestinal Biology and Disease, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Beasley C; Center for Gastrointestinal Biology and Disease, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Marjoram L; Department of Cell Biology, Duke University, Durham, NC, USA., Flynn AD; Division of Gastroenterology, Hepatology and Nutrition, University of Utah Health, Salt Lake City, Utah., Valentine JF; Division of Gastroenterology, Hepatology and Nutrition, University of Utah Health, Salt Lake City, Utah., Onken JE; Division of Gastroenterology, Department of Medicine, Duke University, Durham, NC, USA., Sheikh SZ; Center for Gastrointestinal Biology and Disease, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Davis EE; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Evason KJ; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Garman KS; Division of Gastroenterology, Department of Medicine, Duke University, Durham, NC, USA., Bagnat M; Department of Cell Biology, Duke University, Durham, NC, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 06. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Truong HM; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, MI, USA., Cruz-Colón KO; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA., Martínez-Márquez JY; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA., Willer JR; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA., Travis AM; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA., Biswas SK; Department of Neurobiology, Morehouse School of Medicine, Atlanta, GA, USA., Lo WK; Department of Neurobiology, Morehouse School of Medicine, Atlanta, GA, USA., Bolz HJ; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany., Pearring JN; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA. pearring@umich.edu.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA. pearring@umich.edu.

المصدر: Nature communications [Nat Commun] 2023 Sep 13; Vol. 14 (1), pp. 5671. Date of Electronic Publication: 2023 Sep 13.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Proteins*/genetics , Cilia*, Animals ; Mice ; Rhodopsin/genetics ; Neurites ; Coloring Agents ; Mice, Knockout

المؤلفون: Nuzhat N; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA., Van Schil K; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Liakopoulos S; Cologne Image Reading Center, Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.; Department of Ophthalmology, Goethe University, Frankfurt, Germany., Bauwens M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Rey AD; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Käseberg S; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Jäger M; Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany.; Augenarztpraxis Bad Brückenau, Bad Brückenau, Germany., Willer JR; Department of Ophthalmology and., Winter J; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Truong HM; Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA., Gruartmoner N; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Van Heetvelde M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Wolf J; Department of Radiology and., Merget R; Department of Radiology and., Grasshoff-Derr S; Department of Pediatric Surgery, Bürgerhospital, Frankfurt am Main, Germany., Van Dorpe J; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Hoorens A; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Mansard L; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France., Roux AF; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France., Langmann T; Laboratory for Experimental Immunology of the Eye, Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Dannhausen K; Laboratory for Experimental Immunology of the Eye, Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Rosenkranz D; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany., Wissing KM; Department of Nephrology and., Van Lint M; Department of Ophthalmology, Brussels University Hospital, Jette, Belgium., Rossmann H; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Häuser F; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Zechner U; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany., Pearring JN; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA.; Department of Ophthalmology and.; Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Bolz HJ; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

المصدر: The Journal of clinical investigation [J Clin Invest] 2023 Apr 17; Vol. 133 (8). Date of Electronic Publication: 2023 Apr 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Degeneration*/metabolism, Animals ; Humans ; Mice ; Centrosome/metabolism ; Cilia/metabolism ; Microtubule-Associated Proteins/genetics ; Neurogenesis/genetics ; Retina/metabolism

المؤلفون: Travis AM; Department of Ophthalmology and Visual Science, University of Michigan-Ann Arbor, Ann Arbor, United States., Manocha S; Department of Ophthalmology and Visual Science, University of Michigan-Ann Arbor, Ann Arbor, United States., Willer JR; Department of Ophthalmology and Visual Science, University of Michigan-Ann Arbor, Ann Arbor, United States., Wessler TS; Department of Mathematics, University of North Carolina at Chapel Hill, Chapel Hill, United States., Skiba NP; Department of Ophthalmology, Duke University, Durham, United States., Pearring JN; Department of Ophthalmology and Visual Science, University of Michigan-Ann Arbor, Ann Arbor, United States.; Department of Cell and Developmental Biology, University of Michigan-Ann Arbor, Ann Arbor, United States.

المصدر: ELife [Elife] 2023 Jan 04; Vol. 12. Date of Electronic Publication: 2023 Jan 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: ADP-Ribosylation Factors*/genetics , ADP-Ribosylation Factors*/metabolism , Membrane Proteins*/metabolism , Retinal Rod Photoreceptor Cells*/metabolism, Animals ; Humans ; Mice ; Cilia/metabolism ; Guanosine Triphosphate/metabolism ; Protein Transport

المؤلفون: Pearring JN; Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105 pearring@umich.edu.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48105., Martínez-Márquez J; Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48105., Willer JR; Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48105., Lieu EC; Albert Eye Research Institute, Duke University, Durham, North Carolina 27710., Salinas RY; Albert Eye Research Institute, Duke University, Durham, North Carolina 27710., Arshavsky VY; Albert Eye Research Institute, Duke University, Durham, North Carolina 27710.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2021 Apr 07; Vol. 41 (14), pp. 3094-3104. Date of Electronic Publication: 2021 Feb 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Cyclic Nucleotide-Gated Cation Channels/*genetics , Cyclic Nucleotide-Gated Cation Channels/*metabolism , Membrane Proteins/*genetics , Membrane Proteins/*metabolism , Nerve Tissue Proteins/*genetics , Nerve Tissue Proteins/*metabolism , Protein Domains/*physiology , Rod Cell Outer Segment/*metabolism, Animals ; Animals, Genetically Modified ; Animals, Newborn ; Binding Sites/physiology ; Cyclic Nucleotide-Gated Cation Channels/chemistry ; Female ; Male ; Membrane Proteins/chemistry ; Mice ; Mice, Knockout ; Mice, Transgenic ; Nerve Tissue Proteins/chemistry ; Rod Cell Outer Segment/chemistry ; Xenopus