Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Louise Hopkinson"'
Autor:
Mychel RPT Morais, Pinyuan Tian, Craig Lawless, Syed Murtuza-Baker, Louise Hopkinson, Steven Woods, Aleksandr Mironov, David A Long, Daniel P Gale, Telma MT Zorn, Susan J Kimber, Roy Zent, Rachel Lennon
Publikováno v:
eLife, Vol 11 (2022)
Basement membranes (BMs) are complex macromolecular networks underlying all continuous layers of cells. Essential components include collagen IV and laminins, which are affected by human genetic variants leading to a range of debilitating conditions
Externí odkaz:
https://doaj.org/article/ca2c8946ee08447ca34fde80038066e9
Autor:
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
Publikováno v:
European Journal of Human Genetics.
Autor:
Pinyuan Tian, Mychel RPT Morais, Craig Lawless, Syed Murtuza-Baker, Louise Hopkinson, Steven Woods, Aleksandr Mironov, David A Long, Daniel P Gale, Telma MT Zorn, Susan J Kimber, Roy Zent, Rachel Lennon
Publikováno v:
Morais, M R, Tian, P, Lawless, C, Murtuza-baker, S, Hopkinson, L, Woods, S, Mironov, A, Long, D A, Gale, D P, Zorn, T M, Kimber, S J, Zent, R & Lennon, R 2022, ' Kidney organoids recapitulate human basement membrane assembly in health and disease ', eLife, vol. 11 . https://doi.org/10.7554/eLife.73486
eLife, Vol 11 (2022)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
eLife, Vol 11 (2022)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Basement membranes (BMs) are complex macromolecular networks underlying all continuous layers of cells. Essential components include collagen IV and laminins, which are affected by human genetic variants leading to a range of debilitating conditions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81dd941e3ad900b77dd588da9fbc9cb8
https://research.manchester.ac.uk/en/publications/1fe31140-ade2-442d-ba1f-4d83767f32dc
https://research.manchester.ac.uk/en/publications/1fe31140-ade2-442d-ba1f-4d83767f32dc
Autor:
Pinyuan Tian, Mychel RPT Morais, Craig Lawless, Syed Murtuza-Baker, Louise Hopkinson, Steven Woods, Aleksandr Mironov, David A Long, Daniel P Gale, Telma MT Zorn, Susan J Kimber, Roy Zent, Rachel Lennon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12b9ca5152af5ea2ca655b25289cee1f
https://doi.org/10.7554/elife.73486.sa2
https://doi.org/10.7554/elife.73486.sa2
Autor:
Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Publikováno v:
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0851184c2730de09da5d744112eb31e8
https://www.bib.irb.hr/1197195
https://www.bib.irb.hr/1197195
Autor:
Mychel Raony Paiva Teixeira Morais, Pinyuan Tian, Craig Lawless, Syed Murtuza-Baker, Louise Hopkinson, Steven Woods, Aleksandr Mironov, David Andrew Long, Daniel Gale, Telma Maria Tenorio Zorn, Susan Kimber, Roy Zent, Rachel Lennon
SUMMARYBasement membranes (BMs) are complex macromolecular networks underlying all continuous layers of cells. Essential components include type IV collagen and laminins, which are affected by human genetic defects leading to a range of debilitating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3d06ec35cf7e22fb0d3d3f5d729ed88
https://doi.org/10.1101/2021.06.27.450067
https://doi.org/10.1101/2021.06.27.450067
Autor:
Tamara Nikuševa Martić, Carmela Errichiello, Albertien M. van Eerde, Anniek Corveleyn, Pascale Hilbert, Rimante Cerkauskiene, Micheel van Geel, Samuela Landini, Concetta Gangemi, Miriam Zacchia, Emma Ashton, Evelien Van Hoof, Valeria Aiello, Martin C. Gregory, Elisabeth Ars, Viviana Palazzo, Constantinos Deltas, Asheeta Gupta, Laura Massella, Susie Gear, Laith Al-Rabadi, Danica Galešić Ljubanović, Louise Hopkinson, Julia Hoefele, Jens Michael Hertz, Peter H. Byers, Elizabeth Watson, Judy Savige, Agnieszka Bierzynska, Francesca Becherucci, Pavlina Plevova, Beata S. Lipska-Ziętkiewicz, Maggie Williams, Adrian Lungu, Ania Koziell, Kathleen Claes, Agne Cerkauskaite, Francesca Mari, Hendica Belge, Alessandra Renieri, Helen Storey, Hansjorg Martin Rothe, Rachel Lennon
Publikováno v:
European Journal of Human Genetics
European journal of human genetics, London : Nature Publishing Group, 2021, vol. 29, no. 8, p. 1186-1197
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1
European Journal of Human Genetics, 29(8), 1186-1197. Nature Publishing Group
European journal of human genetics, London : Nature Publishing Group, 2021, vol. 29, no. 8, p. 1186-1197
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1
European Journal of Human Genetics, 29(8), 1186-1197. Nature Publishing Group
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ba1d946479e3486070f5e6a820f420
https://lirias.kuleuven.be/handle/123456789/675238
https://lirias.kuleuven.be/handle/123456789/675238
Autor:
Mark Naven, Louise Hopkinson, Sarah A. Hibbert, Alexander Eckersley, Mike Bell, Victoria L. Newton, Matiss Ozols, Michael J. Sherratt, Qing-Jun Meng
Publikováno v:
Matrix biology : journal of the International Society for Matrix Biology. 84
Circadian rhythms are daily oscillations that, in mammals, are driven by both a master clock, located in the brain, and peripheral clocks in cells and tissues. Approximately 10% of the transcriptome, including extracellular matrix components, is esti
Autor:
Zahra Akbari, Luis Almeida, Thafar Almela, Parisa Amdjadi, Pouya Amrollahi, Sahar Ansari, Rizwan Bader, Mohamadreza Baghaban Eslaminejad, Katie Bardsley, Sompop Bencharit, Priyadarshni Bindal, Aldo R. Boccaccini, Dewi Borkent, Ian Brook, Wen L. Chai, Helen Colley, Aileen Crawford, Ali Dabbagh, Erfan Dashtimoghadarm, Shima Dehghani, Michael Del Monico, Andrew R. Dentino, Tarek El-Bialy, Noha A. El-Wassefy, Farahnaz Fahimipour, Mina D. Fahmy, Jasmine Faldu, Masomeh Farahani, Dina S. Farahat, Atena Fatehinya, Hossein Golzar, Jose Gonzalez, Ourania-Menti Goudouri, Vanessa Hearnden, Louise Hopkinson, Samaneh Hosseini, Mohamed S. Ibrahim, Saso Ivanovski, Maissa Jafari, Shahrbanoo Jahangir, Hossein E. Jazayeri, Noor H. Abu Kasim, Arash Khojasteh, Kimia Khoshroo, Zohaib Khurshid, Eleana Kontonasaki, Lisetta Lam, Ryan S.B. Lee, Masoud Mazafari, Farzaneh Moghadam, Keyvan Moharamzadeh, Alireza Moshaverinia, Craig Murdoch, Shariq Najeeb, Pantea Nazeman, Touraj Nejatian, Zach Nicholson, Maysam Omidi, Meisam Omidi, Zahrasadat Paknejad, Thamil Selvee Ramasamy, Morteza Rasoulianboroujeni, Maryam Rezai Rad, Nasim Salehi-Nik, Farshid Sefat, Massoud Seifi, Brinda Shah, Saleheh Shahmoradi, Mohammadreza Tahriri, Lobat Tayebi, Daryoosh Vashaee, Jonathan Wirth, Benjamin M. Wu, Amir Yadegari, Wiley Yao, Fatemeh Yazdian, Mostafa Yazdimamaghani, Muhammad S. Zafar, Ehsan Zahedi, Sana Zohaib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3c17697b57b01e772e082ed188aae12
https://doi.org/10.1016/b978-0-08-100961-1.00038-4
https://doi.org/10.1016/b978-0-08-100961-1.00038-4