المؤلفون: Chandler, Jennifer C, Jafree, Daniyal J, Malik, Saif, Pomeranz, Gideon, Ball, Mary, Kolatsi‐Joannou, Maria, Piapi, Alice, Mason, William J, Benest, Andrew V, Bates, David O, Letunovska, Aleksandra, Al‐Saadi, Reem, Rabant, Marion, Boyer, Olivia, Pritchard‐Jones, Kathy, Winyard, Paul J, Mason, Andrew S, Woolf, Adrian S, Waters, Aoife M, Long, David A

المساهمون: LifeArc, Medical Research Centre, Kidney Research UK, British Heart Foundation, Diabetes UK, Wellcome Trust

المصدر: The Journal of Pathology ; volume 264, issue 2, page 212-227 ; ISSN 0022-3417 1096-9896

الاتاحة: http://dx.doi.org/10.1002/path.6339

المؤلفون: Xu, Xiaoguang, Khunsriraksakul, Chachrit, Eales, James M., Rubin, Sebastien, Scannali, David, Saluja, Sushant, Talavera, David, Markus, Havell, Wang, Lida, Drzal, Maciej, Maan, Akhlaq, Lay, Abigail C., Prestes, Priscilla R., Regan, Jeniece, Diwadkar, Avantika R., Denniff, Matthew, Rempega, Grzegorz, Ryszawy, Jakub, Król, Robert, Dormer, John P., Szulinska, Monika, Walczak, Marta, Antczak, Andrzej, Matías-García, Pamela R., Waldenberger, Melanie, Woolf, Adrian S., Keavney, Bernard, Zukowska-Szczechowska, Ewa, Wystrychowski, Wojciech, Zywiec, Joanna, Bogdanski, Pawel, Danser, A. H.Jan, Samani, Nilesh J., Guzik, Tomasz J., Morris, Andrew P., Liu, Dajiang J., Charchar, Fadi J., Tomaszewski, Maciej

المصدر: Xu , X , Khunsriraksakul , C , Eales , J M , Rubin , S , Scannali , D , Saluja , S , Talavera , D , Markus , H , Wang , L , Drzal , M , Maan , A , Lay , A C , Prestes , P R , Regan , J , Diwadkar , A R , Denniff , M , Rempega , G , Ryszawy , J , Król , R , Dormer , J P , Szulinska , M , Walczak , M , Antczak , A , Matías-García , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/3a255371-9b29-4e2b-82e7-c8131ba7d3b0
https://doi.org/10.1038/s41467-024-46132-y
https://pure.eur.nl/ws/files/140115946/Genetic_imputation_of_kidney_transcriptome_proteome_and_multi-omics_illuminates_new_blood_pressure_and_hypertension_targets.pdf
http://www.scopus.com/inward/record.url?scp=85188116760&partnerID=8YFLogxK

المؤلفون: Bantounas, Ioannis, Rooney, Kirsty, Lopes, Filipa, Hillman, Kate A, Woolf, Adrian S., Kimber, Susan

المصدر: Bantounas , I , Rooney , K , Lopes , F , Hillman , K A , Woolf , A S & Kimber , S 2024 , ' Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations ' , Stem Cell Reports , vol. 19 , no. 6 , pp. 859-876 . https://doi.org/10.1016/j.stemcr.2024.04.011

مصطلحات موضوعية: CRISPR, GRIK3, HNF1B, cAMP, glutamate receptors, kidney RNA-seq, kidney disease, organoid, pluripotent stem cells, proximal tubule

Relation: https://research.manchester.ac.uk/en/publications/1040e5aa-6088-46df-a05a-8a8668735846

الاتاحة: https://research.manchester.ac.uk/en/publications/1040e5aa-6088-46df-a05a-8a8668735846
https://doi.org/10.1016/j.stemcr.2024.04.011
http://www.scopus.com/inward/record.url?scp=85195081511&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/1ddef965-7c5a-32bb-978d-ff244c9eb295/

المؤلفون: Woolf, Adrian S., Saleem, Moin A., Platt, Caroline

المصدر: The UK Gene Panel Study Group , Woolf , A S , Saleem , M A & Platt , C 2024 , ' A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure ' , Journal of Nephrology . https://doi.org/10.1007/s40620-024-01964-1

مصطلحات موضوعية: R257, gene panel, unexplained paediatric kidney failure, next generation sequencing

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://research.manchester.ac.uk/en/publications/bebd8102-72f1-477e-9a5d-5dbf6bf41c56

الاتاحة: https://research.manchester.ac.uk/en/publications/bebd8102-72f1-477e-9a5d-5dbf6bf41c56
https://doi.org/10.1007/s40620-024-01964-1
https://pure.manchester.ac.uk/ws/files/300831936/Beal_et_al_J_Nephrol_March_accepted_26_April_2024.docx

المؤلفون: Lopes, Filipa, Woolf, Adrian S., Ho, Yee Mang, et, al

المصدر: Lopes , F , Woolf , A S , Ho , Y M & et , A 2024 , ' Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies ' , NPJ Genomic Medicine , vol. 9 , no. 18 . https://doi.org/10.1038/s41525-024-00398-9

مصطلحات موضوعية: CELSR3, Bi-allelic variants, Central nervous system (CNS) anomalies, Neurodevelopmental disorder, Seizures, Neural tube defects, Congenital anomalies of the kidneys and urinary tract (CAKUT), Kidney, Zebrafish (Danio rerio)

Relation: https://research.manchester.ac.uk/en/publications/39aaec05-5587-45e9-8970-a928e608a355

الاتاحة: https://research.manchester.ac.uk/en/publications/39aaec05-5587-45e9-8970-a928e608a355
https://doi.org/10.1038/s41525-024-00398-9

المؤلفون: Lopes, Filipa M., Grenier, Celine, Jarvis, Benjamin W., Al Mahdy, Sara, Lène-McKay, Adrian, Gurney, Alison M., Newman, William G., Waddington, Simon N., Woolf, Adrian S., Roberts, Neil A.

المصدر: Lopes , F M , Grenier , C , Jarvis , B W , Al Mahdy , S , Lène-McKay , A , Gurney , A M , Newman , W G , Waddington , S N , Woolf , A S & Roberts , N A 2024 , ' Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome. ' , eLife . https://doi.org/10.7554/eLife.91828.1

مصطلحات موضوعية: adeno-associated viral vector, gene therapy, HPSE2, heparanase-2, pelvic ganglia, lower urinary tract, smooth muscle, urinary bladder

Relation: https://research.manchester.ac.uk/en/publications/dc797ceb-7c37-4ba8-af11-16fae545c6f9

الاتاحة: https://research.manchester.ac.uk/en/publications/dc797ceb-7c37-4ba8-af11-16fae545c6f9
https://doi.org/10.7554/eLife.91828.1

المؤلفون: Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R, Flanagan, Cheryl, McKnight, Amy Jayne, Mone, Fionnuala

المصدر: Sonner , S , Reilly , K , Woolf , A S , Chandler , N , Kilby , M D , Maher , E R , Flanagan , C , McKnight , A J & Mone , F 2024 , ' When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis ' , Prenatal diagnosis , vol. 44 , no. 2 . https://doi.org/10.1002/pd.6479

مصطلحات موضوعية: Single gene disorders, Fetal genetic analysis, Whole exome sequencing, Fetal ultrasound, Fetal imaging, Prenatal diagnosis

Relation: https://research.manchester.ac.uk/en/publications/d56f3c6b-27aa-478e-9ae2-dd3f4483abe9

الاتاحة: https://research.manchester.ac.uk/en/publications/d56f3c6b-27aa-478e-9ae2-dd3f4483abe9
https://doi.org/10.1002/pd.6479

المؤلفون: Lopes, Filipa M, Grenier, Celine, Jarvis, Benjamin W, Al Mahdy, Sara, Lène-McKay, Adrian, Gurney, Alison M, Newman, William G, Waddington, Simon N, Woolf, Adrian S, Roberts, Neil A

المساهمون: Medical Research Council, Kidney Research UK, Newlife – The Charity for Disabled Children, Manchester Biomedical Research Centre, Kidneys for Life, LifeArc

المصدر: eLife ; volume 13 ; ISSN 2050-084X

الاتاحة: http://dx.doi.org/10.7554/elife.91828
https://cdn.elifesciences.org/articles/91828/elife-91828-v1.pdf
https://cdn.elifesciences.org/articles/91828/elife-91828-v1.xml
https://elifesciences.org/articles/91828

المؤلفون: Lopes, Filipa M., Grenier, Celine, Jarvis, Benjamin W., Mahdy, Sara Al, Lène-McKay, Adrian, Gurney, Alison M., Newman, William G., Waddington, Simon N., Woolf, Adrian S., Roberts, Neil A.

المصدر: Lopes , F M , Grenier , C , Jarvis , B W , Mahdy , S A , Lène-McKay , A , Gurney , A M , Newman , W G , Waddington , S N , Woolf , A S & Roberts , N A 2024 ' HumanHPSE2gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome ' bioRxiv , Cold Spring Harbor Laboratory Press . https://doi.org/10.1101/2023.07.03.547034

Relation: https://research.manchester.ac.uk/en/publications/14c7b457-01d7-437e-adcc-a72aecbfa0e3

الاتاحة: https://research.manchester.ac.uk/en/publications/14c7b457-01d7-437e-adcc-a72aecbfa0e3
https://doi.org/10.1101/2023.07.03.547034

المؤلفون: Newman, William, Woolf, Adrian S., Beaman, Glenda, Roberts, Neil

المساهمون: Adam , MP, Ardinger, HH, Pagon, RA, Wallis, Stephanie E., Bean, Lora J H., Stephens, Karen, Amemiya, Anne

المصدر: Newman , W , Woolf , A S , Beaman , G & Roberts , N 2023 , Urofacial Syndrome . in MP Adam , HH Ardinger , RA Pagon , S E Wallis , L J H Bean , K Stephens & A Amemiya (eds) , GeneReviews® [Internet]. . GeneReviews , National Institute for Health Research . < https://www.ncbi.nlm.nih.gov/books/NBK154138/ >

Relation: https://research.manchester.ac.uk/en/publications/8c820cc4-043f-4ea7-8804-48f01819e2e1

الاتاحة: https://research.manchester.ac.uk/en/publications/8c820cc4-043f-4ea7-8804-48f01819e2e1
https://www.ncbi.nlm.nih.gov/books/NBK154138/
https://ncbi.nlm.nih.gov/books/NBK1116/

المؤلفون: Soboh, Soaad, Vorontsova, Avital, Farhoud, Malik, Barash, Uri, Naroditsky, Inna, Gross-Cohen, Miriam, Weissmann, Marina, Yasuhiko, Nishioka, Woolf, Adrian S., Roberts, Neil A., Shaked, Yuval, Ilan, Neta, Vlodavsky, Israel

المصدر: Cell Death & Disease; Dec2024, Vol. 15 Issue 12, p1-16, 16p

المؤلفون: Kabir, Mitra, Stuart, Helen, Lopes, Filipa, Fotiou, Elisavet, Keavney, Bernard, Doig, Andrew, Woolf, Adrian S., Hentges, Kathryn

المصدر: Kabir , M , Stuart , H , Lopes , F , Fotiou , E , Keavney , B , Doig , A , Woolf , A S & Hentges , K 2023 , ' Predicting congenital renal tract malformation genes using machine learning ' , Scientific Reports , vol. 13 , 13204 . https://doi.org/10.1038/s41598-023-38110-z

Relation: https://research.manchester.ac.uk/en/publications/f0cee78c-7b37-4964-af57-27e0728644b5

الاتاحة: https://research.manchester.ac.uk/en/publications/f0cee78c-7b37-4964-af57-27e0728644b5
https://doi.org/10.1038/s41598-023-38110-z

المؤلفون: Kolvenbach, Caroline M., Dworschak, Gabriel C., Rieke, Johanna M., Woolf, Adrian S., Reutter, Heiko, Odermatt, Benjamin, Hilger, Alina C.

المصدر: Kolvenbach , C M , Dworschak , G C , Rieke , J M , Woolf , A S , Reutter , H , Odermatt , B & Hilger , A C 2023 , ' Modelling human lower urinary tract malformations in zebrafish ' , Molecular and Cellular Pediatrics . https://doi.org/10.1186/s40348-023-00156-4

Relation: https://research.manchester.ac.uk/en/publications/501d68ae-d16c-417f-9f0d-c2cecee20139

الاتاحة: https://research.manchester.ac.uk/en/publications/501d68ae-d16c-417f-9f0d-c2cecee20139
https://doi.org/10.1186/s40348-023-00156-4

المؤلفون: Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S, Chandler, Natalie, Kilby, Mark D, Maher, Eamonn R, Flanagan, Cheryl, McKnight, Amy Jayne, Mone, Fionnuala

مصطلحات موضوعية: Humans, Pregnancy, Female, Cohort Studies, Prospective Studies, Karyotyping, Kidney, Polycystic Kidney Diseases

وصف الملف: text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/362024

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/362024

المؤلفون: Grenier, Celine, Lopes, Filipa M., Cueto-González, Anna M., Rovira-Moreno, Eulàlia, Gander, Romy, Jarvis, Benjamin W., McCloskey, Karen D., Gurney, Alison M., Beaman, Glenda M., Newman, William G., Woolf, Adrian S., Roberts, Neil A.

المصدر: Grenier , C , Lopes , F M , Cueto-González , A M , Rovira-Moreno , E , Gander , R , Jarvis , B W , McCloskey , K D , Gurney , A M , Beaman , G M , Newman , W G , Woolf , A S & Roberts , N A 2023 , ' Neurogenic defects occur in LRIG2-associated urinary bladder disease ' , Kidney International Reports , vol. 8 , no. 7 , pp. 1417-1429 . https://doi.org/10.1016/j.ekir.2023.04.017

مصطلحات موضوعية: bladder, LRIG2, neurogenic, Ochoa, syndrome, urofacial, /dk/atira/pure/subjectarea/asjc/2700/2727, name=Nephrology

وصف الملف: application/pdf

الاتاحة: https://pure.qub.ac.uk/en/publications/a3330301-8374-4569-815e-24fbf6ee28a5
https://doi.org/10.1016/j.ekir.2023.04.017
https://pureadmin.qub.ac.uk/ws/files/559707213/1-s2.0-S2468024923012810-main.pdf

المؤلفون: Roberts, Neil A., Hilton, Emma N., Lopes, Filipa M., Singh, Subir, Randles, Michael J., Gardiner, Natalie J., Chopra, Karl, Coletta, Riccardo, Bajwa, Zunera, Ha, Robert J., Yue, Wyatt W., Schaefer, Franz, Weber, Stefanie, Henriksson, Roger, Stuart, Helen M., Hedman, Håkan, Newman, William G., Woolf, Adrian S.

المصدر: Kidney International. 95(5):1138-1152

مصطلحات موضوعية: autonomic, ganglia, gene, mouse, urination

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-158940
https://umu.diva-portal.org/smash/get/diva2:1318405/FULLTEXT01.pdf

المؤلفون: Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjöld, Agneta, Newman, William, Woolf, Adrian S, Eckstein, Markus, Hilger, Alina C, Dworschak, Gabriel C, Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M, Hernandez, Jose L, Erben, Philipp, Maj, Carlo, Olmos, Jose M, Riancho, Jose A, Valero, Carmen, Hostettler, Isabel C, Houlden, Henry, Werring, David J, Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C, Arkani, Samara, Åkesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M, Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M, van Rooij, Iris A L M, Feitz, Wouter F J, Marcelis, Carlo L M, Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P, Chan, Melanie M Y, Ludwig, Kerstin U, Nöthen, Markus M, Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael, Reutter, Heiko

المساهمون: Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjöld, Agneta, Newman, William, Woolf, Adrian S, Eckstein, Marku, Hilger, Alina C, Dworschak, Gabriel C, Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M, Hernandez, Jose L, Erben, Philipp, Maj, Carlo, Olmos, Jose M, Riancho, Jose A, Valero, Carmen, Hostettler, Isabel C, Houlden, Henry, Werring, David J, Schumacher, Johanne, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C, Arkani, Samara, Åkesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M, Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattia, Schmiedeke, Eberhard, Boemers, Thomas M, van Rooij, Iris A L M, Feitz, Wouter F J, Marcelis, Carlo L M, Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P, Chan, Melanie M Y, Ludwig, Kerstin U, Nöthen, Markus M, Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael, Reutter, Heiko

مصطلحات موضوعية: genome-wide association study, transcriptomics, bladder exstrophy, EFNA1, bladder cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/36352089; info:eu-repo/semantics/altIdentifier/wos/WOS:000885092400005; volume:5; issue:1; firstpage:1203; lastpage:1213; numberofpages:11; journal:COMMUNICATIONS BIOLOGY; https://hdl.handle.net/2318/1882361; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141504583; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646906/

الاتاحة: https://hdl.handle.net/2318/1882361
https://doi.org/10.1038/s42003-022-04092-3
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646906/

المؤلفون: Huang, Jennifer L, Woolf, Adrian S, Kolatsi-Joannou, Maria, Baluk, Peter, Sandford, Richard N, Peters, Dorien JM, McDonald, Donald M, Price, Karen L, Winyard, Paul JD, Long, David A

المصدر: Journal of the American Society of Nephrology. 27(1)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Kidney Disease, Pediatric, Polycystic Kidney Disease, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Renal and urogenital, Animals, Mice, Polycystic Kidney Diseases, Vascular Endothelial Growth Factor C, endothelium, polycystic kidney disease, vascular endothelial growth factor, Clinical Sciences, Urology & Nephrology, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2pm825x1
https://escholarship.org/content/qt2pm825x1/qt2pm825x1.pdf

المؤلفون: Kohl, Stefan, Avni, Fred E, Boor, Peter, Capone, Valentina, Clapp, William L, De Palma, Diego, Harris, Tess, Heidet, Laurence, Hilger, Alina C, Liapis, Helen, Lilien, Marc, Manzoni, Gianantonio, Montini, Giovanni, Negrisolo, Susanna, Pierrat, Marie-Jeanne, Raes, Ann, Reutter, Heiko, Schreuder, Michiel F, Weber, Stefanie, Winyard, Paul J D, Woolf, Adrian S, Schaefer, Franz, Liebau, Max C

المساهمون: Nefrologie, Child Health

مصطلحات موضوعية: chronic renal failure, chronic renal insufficiency, guidelines, pediatrics, ultrasonography, Nephrology, Transplantation

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447910

الاتاحة: https://dspace.library.uu.nl/handle/1874/447910

المؤلفون: Chan, Melanie Mai Yee, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Genomics England Research Consortium, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P

المصدر: eLife , 11 , Article e74777. (2022)

مصطلحات موضوعية: developmental biology, genetics, genomics, human

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10156363/1/Chan_Diverse%20ancestry%20whole-genome%20sequencing%20association%20study%20identifies%20TBX5%20and%20PTK7%20as%20susceptibility%20genes%20for%20posterior%20urethral%20valves_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10156363/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10156363/1/Chan_Diverse%20ancestry%20whole-genome%20sequencing%20association%20study%20identifies%20TBX5%20and%20PTK7%20as%20susceptibility%20genes%20for%20posterior%20urethral%20valves_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10156363/