Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Polona Le Quesne-Stabej"'
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
Autor:
Sinéad M. McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, GOSgene, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
Publikováno v:
JCI Insight, Vol 7, Iss 5 (2022)
Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fet
Externí odkaz:
https://doaj.org/article/8de8a399e8464d42b747b0aa3003ebbc
Autor:
Tamsin J. Robb, Peter Tsai, Sandra Fitzgerald, Paula Shields, Pascalene S. Houseman, Rachna Patel, Vicky Fan, Ben Curran, Rexson Tse, Jacklyn Ting, Nicole Kramer, Braden J. Woodhouse, Esther Coats, Polona Le Quesne Stabej, Jane Reeve, Kate Parker, Ben Lawrence, Cherie Blenkiron, Cristin G. Print
Publikováno v:
Cancer Research Communications. 3:31-42
Tumor evolution underlies many challenges facing precision oncology, and improving our understanding has the potential to improve clinical care. This study represents a rare opportunity to study tumor heterogeneity and evolution in a patient with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72854f2fa12f80e460664767013f8fbd
https://doi.org/10.1158/2767-9764.crc-22-0101
https://doi.org/10.1158/2767-9764.crc-22-0101
Autor:
Cristin G. Print, Cherie Blenkiron, Ben Lawrence, Kate Parker, Jane Reeve, Polona Le Quesne Stabej, Esther Coats, Braden J. Woodhouse, Nicole Kramer, Jacklyn Ting, Rexson Tse, Ben Curran, Vicky Fan, Rachna Patel, Pascalene S. Houseman, Paula Shields, Sandra Fitzgerald, Peter Tsai, Tamsin J. Robb
Supplementary Figure S2: Breakpoints in 10x Loupe software linked-reads view.Each bar represents a sequencing read, and those joined with a horizontal line share the same barcode.Reads are grouped by haplotype (green and purple), with unphased reads
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d84f12ed5f22174454d0b0190754bd
https://doi.org/10.1158/2767-9764.22546077
https://doi.org/10.1158/2767-9764.22546077
Autor:
Cristin G. Print, Cherie Blenkiron, Ben Lawrence, Kate Parker, Jane Reeve, Polona Le Quesne Stabej, Esther Coats, Braden J. Woodhouse, Nicole Kramer, Jacklyn Ting, Rexson Tse, Ben Curran, Vicky Fan, Rachna Patel, Pascalene S. Houseman, Paula Shields, Sandra Fitzgerald, Peter Tsai, Tamsin J. Robb
Supplementary Table S1 includes a description of the tumour samples analysed.Supplementary Table S2 includes DNA WES summary statistics.Supplementary Table S3 includes RNA-Seq summary statistics.Supplementary Table S4 includes WGS linked-read summary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df6a8d627b5b3b3f2fa7c963e172c56
https://doi.org/10.1158/2767-9764.22546062
https://doi.org/10.1158/2767-9764.22546062
Autor:
Cristin G. Print, Cherie Blenkiron, Ben Lawrence, Kate Parker, Jane Reeve, Polona Le Quesne Stabej, Esther Coats, Braden J. Woodhouse, Nicole Kramer, Jacklyn Ting, Rexson Tse, Ben Curran, Vicky Fan, Rachna Patel, Pascalene S. Houseman, Paula Shields, Sandra Fitzgerald, Peter Tsai, Tamsin J. Robb
Tumor evolution underlies many challenges facing precision oncology, and improving our understanding has the potential to improve clinical care. This study represents a rare opportunity to study tumor heterogeneity and evolution in a patient with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22815d967dc13e6fe7e7a304f59c9b7d
https://doi.org/10.1158/2767-9764.c.6551082.v1
https://doi.org/10.1158/2767-9764.c.6551082.v1
Autor:
Polona Le Quesne Stabej, Beatriz Corredor, Robin Lovell Badge, Selim Kurtoglu, Karine Rizzoti, Louise C. Gregory, Andrea Accogli, Gabriel Á. Martos-Moreno, Hywel T. P. Williams, Luis A. Pérez-Jurado, John C. Achermann, Mehul T. Dattani, Zeynep Burçin Gönen, Sinead M. McGlacken-Byrne, Leyla Akin, Valeria Capra, Jenifer P. Suntharalingham, Stephane Mouilleron, Mohamad Maghnie, Velibor Tasic, Stefano Gustincich, Aleksandra Filipovska, Dimitar N. Azmanov, Christophe Galichet, Zoran Gucev, Iain C.A.F. Robinson, Mustafa Kendirci, Anatoly Tuilpakov, Jesús Argente, Federica Buonocore
Publikováno v:
Yearbook of Paediatric Endocrinology.
© 2021 American College of Medical Genetics and GenomicsPurpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. Methods: We used next-generation seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd1715ee8af88c72803ed53f509850
https://doi.org/10.1530/ey.19.1.7
https://doi.org/10.1530/ey.19.1.7
Autor:
Iain C.A.F. Robinson, Roberto Oleari, Sakina Rajabali, Hywel Williams, Takahisa Furukawa, Mario J. Cachia, Kimberley L. H. Riegman, Mehul T. Dattani, Daniel Field, Alyssa Paganoni, Louise C. Gregory, M. Albert Basson, Lisa Benedetta De Martini, Anna Cariboni, Antonella Lettieri, Polona Le Quesne Stabej, John Torpiano, Taro Chaya, Nancy Formosa, Danielle E. Whittaker, Louise Ocaka
Publikováno v:
The Journal of Clinical Investigation
The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::970d0170320a2e6e4d7c50418ff635ef
https://doi.org/10.1172/jci141587
https://doi.org/10.1172/jci141587
Autor:
Roberto Oleari, Nancy Formosa, Alyssa Paganoni, Polona Le Quesne-Stabej, GOSgene, Hywel Williams, Anna Cariboni, Iain C.A.F. Robinson, Takahisa Furukawa, Mario J. Cachia, Taro Chaya, M. Albert Basson, Louise Ocaka, Daniel Field, Danielle E. Whittaker, Louise C. Gregory, Kimberley L. H. Riegman, John Torpiano, Lisa Benedetta De Martini, Antonella Lettieri, Sakina Rajabali, Mehul T. Dattani
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00d535062d7dfccc6fad2c0166248ce0
https://doi.org/10.1101/2021.07.28.21260126
https://doi.org/10.1101/2021.07.28.21260126
Autor:
Nadjeda Moreno, Ignacio Del Valle Torres, Daniel Kelberman, Louise Ocaka, Chela James, Polona Le Quesne Stabej, Sinéad M. McGlacken-Byrne, Mehul T. Dattani, Gerard S. Conway, Andrey Gagunashvili, John C. Achermann, Berta Crespo, Chiara Bacchelli, Hywel Williams
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
BackgroundPrimary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc91e3e3fd7b129e88b5a0fc1edf6ef2
https://pubmed.ncbi.nlm.nih.gov/34402903
https://pubmed.ncbi.nlm.nih.gov/34402903
Autor:
Talia Hartley, Machteld M. Oud, Paul Tuijnenburg, Chela James, Hywel Williams, Taco W. Kuijpers, Machiel H. Jansen, Hans G. Brunner, Maja Hempel, Rui Li, Louise Ocaka, Polona Le Quesne Stabej, PL Beales, Catherine M. Cale, Steven T. Pals, Ronald J.A. Wanders, Zemin Ren, Naomi van Vlies, Davor Lessel, Heleen H. Arts, Rosalind Jane Davies, Christine Hall, Patricia Dias, Lucie Dupuis, Sacha Ferdinandusse, Tim M. Strom, E. Graham Davies, Chiara Bacchelli, Hartmut Engels, Jan-Maarten Cobben, René Santer, Jessika Johannsen, Marielle Alders, Sérgio B. Sousa, Ronald Roepman, Roberto Mendoza-Londono, Ingo Müller, Kai Lehmberg
Publikováno v:
American journal of human genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)
Contains fulltext : 169755.pdf (Publisher’s version ) (Open Access) EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b8b33f3e0c38cbbf870985c97c9fed
https://doi.org/10.1016/j.ajhg.2017.01.013
https://doi.org/10.1016/j.ajhg.2017.01.013