Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

Authors: Winterbottom, Jean, Simms, Roslyn J., Caroli, Anna, Demoulin, Nathalie, Furlano, Monica, Pybus, Marc, Gansevoort, Ron, Meijer, Esther, Grall, A., Moal, M.C., Tanquerel, T., Hanrotel, C., Segalen, I., Lanfranco, L., C, Mesguen, A, Kersale, A, Capdeville, V, Huynh, Hourmant, M., Dantal, J., Giral, M., Meurette, A., Lino, M., Garandeau, C., Hodemon-Corne, B., Allain-Launay, E., Cantarovich, D., Blancho, G., Hristea, D., Couvrat, G., Fakhouri, F., Lavainne, F., Vercel, C., Chapal, M., Le Fur, A., Gourraud, C., Deltombe, C., Vigneau, C., Morin, M.P., Le Pogamp, P., Frouget, T., Gie, S., Rivalan, J., Laruelle, E., Richer, C., Lorcy, N., Golbin, L., Terrasse, M., Morice, S., Brenier, H., Michel, A., Tomkiewicz, E., Nguyen, Q.L., Vabret, E., Lavergne, A., Pierre, E., Chemouny, J., Halimi, J.M., Longuet, H., Gatault, P., Merieau, E., Barbet, C., Buchler, M., Golea, G., Ghouti, L., Gautard, D., Sautenet, B., François, M., Fournier, A., Baron, C., Salmon, C., Rabot, N., Prat, L., Valentin, J.F., Chevallier, E., Birmele, B., Genest, C., Goin, N., Goumard, A., Bridoux, F., Desport, E., Thierry, A., Ecotiere, L., Touchard, G., Belmouaz, M., Javaugue, V., Bauwens, M., Fride-Leroy, F., Goussard, G., Bouteau, I., Jacquemont, L., Subra, J.F., Augusto, J.F., Duveau, A., Besson, V., Cousin, M., Sayegh, J., Onno, C., Maghakian, M.N., Demiselle, J., Deschamps, C., Garnier, A.S., Guibert, F., Planchais, M., Charasse, C., Stanescu, C., Le Cacheux, P., Baluta, S., Leonetti, F., Boulahrouz, R., Ferrier, M.L., Freguin, C., Simon, A., Potier, J., Coulibaly, J.M., Colombo, A., Delezire, A., Renaudineau, E., Dolley-Hitze, T., Perrichot, R., Michez, E., Mandart, L., Menoyo, V., Pincon, E., Muresan, C., Durand, P.Y., Corlu, L., Wegner, I., Siohan, P., Metes, I., Guyon-Roger, T., Wehbe, B., Gueguen, L., Drouet, C., Loheac, C., Sawadogo, T., Le Guillou, A., Le Jeune, M., Beillard, G., Lefevre, S., Chamontin, C., Georgescu, S., Jousset, P., Latif, R., Massad, M., Jaulin, J.P., Querard, A.H., Ottavioli, J.N., Target, N., Chapal, A., Charpy, V., Besnier, D., Regnier-Le Coz, S., Blanpain, A., Durault, S., Larmet, D., Le Clech, A., Pouteau, L.M., Labatut, D., Coindre, J.P., Sigogne, M., Piccoli, G., Bachelet-Rousseau, C., Delbes, S., Fritz, O., Pourreau, F., Mzoughi, S., Guillodo, M.P., Gosselin, M., Depraetre, P., Strullu, B., Chaffara, E., Le Mee, M., Terki, N., Goulesque, K., Benarbia, S., Dimulescu, M., Rifaat, M., Duneau, G., Legrand, D., Georges, E., Seret, G., Babinet, F., Lanoiselee, S., Savoiu, C., Testa, A., Oancea, I., Coupel, I., Parahy, S., Lefrancois, G., Briand, E., Bugnon, D., Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Hubbard, Tim J.P., Jackson, Rob, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Murugaesu, Nirupa, O’Donovan, Peter, Odhams, Chris A., Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thompson, Simon R., Welland, Matthew J., Williams, Eleanor, Boardman-Pretty, Freya, Moutsianas, Loukas, Mueller, Michael, Caulfield, Mark J., Elgar, Greg, Henderson, Shirley, Jones, Louise J., Kasperaviciute, Dalia, Need, Anna C., Patch, Christine, Sosinsky, Alona, Thomas, Ellen R.A., Tucci, Arianna, Witkowska, Katarzyna, Wood, Suzanne M., Zagorec, Nikola ^{1, 11, 12, ∗}, Calamel, Alizée ^{1, ∗}, Delaporte, Margaux ¹, Olinger, Eric ¹³, Orr, Sarah ¹⁵, Sayer, John A. ^{15, 16, 17}, Pillay, Vignesh-Guru ^{4, 6}, Denommé-Pichon, Anne-Sophie ^{4, 6}, Tran Mau-Them, Frederic ^{4, 6}, Nambot, Sophie ^{6, 7}, Faivre, Laurence ^{5, 6, 7}, Ars, Elisabet ²⁰, Torra, Roser ²¹, Ong, Albert C.M. ^{18, 19}, Devuyst, Olivier ^{14, 22}, Perico, Noberto ²³, Després, Aurore Michel ², Lemoine, Hugo ³, de Fallois, Jonathan ²⁴, Brousse, Romain ⁸, Hummel, Aurélie ⁹, Knebelmann, Bertrand ⁹, Maisonneuve, Nathalie ¹⁰, Halbritter, Jan ²⁵, Le Meur, Yannick ^{1, 26}, Audrézet, Marie-Pierre ^{2, 3}, Cornec-Le Gall, Emilie ^{1, 3, ∗}

Source: In American Journal of Kidney Diseases April 2025 85(4):465-476

G.A.S. I: A prescription for turbulence-regulated star formation and its impact on galaxy properties

Authors: Cousin, M., Guillard, P., Lehnert, M. D.

Source: A&A 627, A131 (2019)

Subject Terms: Astrophysics - Astrophysics of Galaxies

Access URL: http://arxiv.org/abs/1901.01906

G.A.S. II: Dust extinction in galaxies; Luminosity functions and InfraRed eXcess

Authors: Cousin, M., Buat, V., Lagache, G., Bethermin, M.

Source: A&A 627, A132 (2019)

Subject Terms: Astrophysics - Astrophysics of Galaxies

Access URL: http://arxiv.org/abs/1901.01747

The [CII] 158 micron line emission in high-redshift galaxies

Authors: Lagache, G., Cousin, M., Chatzikos, M.

Source: A&A 609, A130 (2018)

Subject Terms: Astrophysics - Astrophysics of Galaxies

Access URL: http://arxiv.org/abs/1711.00798

Submillimeter Number Counts at 250, 350 and 500 microns in BLAST data

Authors: Béthermin, M., Dole, H., Cousin, M., Bavouzet, N.

Subject Terms: Astrophysics - Cosmology and Extragalactic Astrophysics

Access URL: http://arxiv.org/abs/1003.0833

Correction: Activity-dependent bulk endocytosis proteome reveals a key presynaptic role for the monomeric GTPase Rab11

Authors: Kokotos, A. C., Peltier, J., Davenport, E. C., Trost, M., Cousin, M. A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Feb 01. 116(6), 2386-2388.

Access URL: https://www.jstor.org/stable/26663828

Activity-dependent bulk endocytosis proteome reveals a key presynaptic role for the monomeric GTPase Rab11

Authors: Kokotos, A. C., Peltier, J., Davenport, E. C., Trost, M., Cousin, M. A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Oct . 115(43), E10177-E10186.

Access URL: https://www.jstor.org/stable/26532392

Effects of different mastitis support strategies on dairy farmers' motivation, prevention behaviour, and their herds' udder health status
Society for Veterinary Epidemiology and Preventive Medicine; Society for Veterinary Epidemiology and Preventive Medicine; proceedings of a meeting held in Dublin, Ireland 26th-28th March 2014; edited by K. Mintiens and T.D.H. Parkin and the SVEPM Executive Committee

Authors: Cousin, M.-E.

Source: PROCEEDINGS SOCIETY FOR VETERINARY EPIDEMIOLOGY AND PREVENTIVE MEDICINE. Conf 2014:20-34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN088917090&indx=1&recIds=ETOCCN088917090

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype

Authors: Boczek, N. J., Kruisselbrink, T., Cousin, M. A., Blackburn, P. R., Klee, E. W., Gavrilova, R. H., Lanpher, B. C.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 173(5):1328-1333

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN383835859&indx=1&recIds=ETOCRN383835859

A Multilevel, Statewide Investigation of School District Anti-Bullying Policy Quality and Student Bullying Involvement

Authors: Gower, A. L., Cousin, M., Borowsky, I. W.

Source: JOURNAL OF SCHOOL HEALTH. 87(3):174-181

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN383131015&indx=1&recIds=ETOCRN383131015

Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants

Authors: Gerlai, R., Poshusta, T. L., Rampersad, M., Fernandes, Y., Greenwood, T. M., Cousin, M. A., Klee, E. W., Clark, K. J.

Source: BEHAVIOR GENETICS. 47(1):125-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN381612983&indx=1&recIds=ETOCRN381612983

A multiarm randomized field trial evaluating strategies for udder health improvement in Swiss dairy herds

Authors: Tschopp, A. ^*, Reist, M. ^*, Kaufmann, T. ^†, Bodmer, M. ^‡, Kretzschmar, L. ^‡, Heiniger, D. ^‡, Berchtold, B. ^‡, Wohlfender, F. ^*, Harisberger, M. ^*, Boss, R. ^§, Strabel, D. ^†, Cousin, M.-E. ^#, Graber, H.U. ^§, Steiner, A. ^‡, van den Borne, B.H.P. ^*

Source: In Journal of Dairy Science February 2015 98(2):840-860

Role of Angiotensin II in the Remodeling Induced by a Chronic Increase in Flow in Rat Mesenteric Resistance Arteries
Inter-American Society of Hypertension : IASH

Authors: Cousin, M., Custaud, M.-A., Baron-Menguy, C., Toutain, B., Dumont, O., Guihot, A.-L., Vessieres, E., Subra, J.-F., Henrion, D., Loufrani, L.

Source: HYPERTENSION -DALLAS-. 55(1):109-115

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN074596070&indx=1&recIds=ETOCCN074596070

Activity-dependent control of bulk endocytosis by protein dephosphorylation in central nerve terminals
Elementary properties of exocytosis and endocytosis

Authors: Clayton, E. L., Evans, G. J., Cousin, M. A.

Source: THE JOURNAL OF PHYSIOLOGY. 585(3):687-691

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN067037313&indx=1&recIds=ETOCCN067037313

Dynamin I phosphorylation and the control of synaptic vesicle endocytosis
Biochemical Society; Lipids, rafts and traffic

Authors: Smillie, K. J., Cousin, M. A.

Source: BIOCHEMICAL SOCIETY SYMPOSIA. (72):87-98

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN059342230&indx=1&recIds=ETOCCN059342230

Tyrosine phosphorylation of synaptophysin in synaptic vesicle recycling
Cellular information processing

Authors: Evans, G. J. O., Cousin, M. A.

Source: BIOCHEMICAL SOCIETY TRANSACTIONS. 33(6):1350-1353

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN057816568&indx=1&recIds=ETOCCN057816568

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Authors: Lazaridis, K. N., Schahl, K. A., Cousin, M. A., Babovic-Vuksanovic, D., Riegert-Johnson, D. L., Gavrilova, R. H., McAllister, T. M., Lindor, N. M., Abraham, R. S., Ackerman, M. J.

Source: MAYO CLINIC PROCEEDINGS. 91(3):297-307

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN381634824&indx=1&recIds=ETOCRN381634824

Monitoring activity-dependent bulk endocytosis with the genetically-encoded reporter VAMP4-pHluorin

Authors: Nicholson-Fish, J. C., Smillie, K. J., Cousin, M. A.

Source: JOURNAL OF NEUROSCIENCE METHODS. 266:1-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN379525633&indx=1&recIds=ETOCRN379525633

Phosphatidylinositol 3-Kinase Couples Localised Calcium Influx to Activation of Akt in Central Nerve Terminals

Authors: Nicholson-Fish, J. C., Cousin, M. A., Smillie, K. J.

Source: NEUROCHEMICAL RESEARCH. 41(3):534-543

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN376999796&indx=1&recIds=ETOCRN376999796

-The Dose Makes the Poison-: Informing Consumers About the Scientific Risk Assessment of Food Additives

Authors: Bearth, A., Cousin, M. E., Siegrist, M.

Source: RISK ANALYSIS. 36(1):130-144

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN374784869&indx=1&recIds=ETOCRN374784869