The smallest of the small: determining size through cell number

Información del proyecto

GrowCELL

Identificador del acuerdo de subvención: 788093

DOI

10.3030/788093

Fecha de la firma de la CE 18 Junio 2018

Fecha de inicio 1 Agosto 2018

Fecha de finalización 31 Enero 2026

Financiado con arreglo a

• EXCELLENT SCIENCE - European Research Council (ERC)

Coste total

€ 2 500 000,00

Aportación de la UE

€ 2 500 000,00

Coordinado por

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

Peer reviewed articles (14)

Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Autores: Lukas Tamayo-Orrego, David Gallo, Frédéric Racicot, Amandine Bemmo, Sushmetha Mohan, Brandon Ho, Samer Salameh, Trang Hoang, Andrew P. Jackson, Grant W. Brown, Frédéric Charron
Publicado en: Nature Cancer, Edición 1/8, 2020, Página(s) 840-854, ISSN 2662-1347
Editor: Springer Nature
DOI: 10.1038/s43018-020-0094-7

Author Correction: Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Autores: Lukas Tamayo-Orrego, David Gallo, Frédéric Racicot, Amandine Bemmo, Sushmetha Mohan, Brandon Ho, Samer Salameh, Trang Hoang, Andrew P. Jackson, Grant W. Brown, Frédéric Charron
Publicado en: Nature Cancer, Edición 2, 2022, Página(s) 575-575, ISSN 2662-1347
Editor: Springer Nature
DOI: 10.1038/s43018-021-00205-9

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Autores: Žygimantė Tarnauskaitė, Louise S. Bicknell, Joseph A. Marsh, Jennie E. Murray, David A. Parry, Clare V. Logan, Michael B. Bober, Deepthi C. Silva, Angela L. Duker, David Sillence, Carol Wise, Andrew P. Jackson, Olga Murina, Martin A.M. Reijns
Publicado en: Human Mutation, Edición 40 (8), 2019, Página(s) 1063-1070, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23776

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Autores: Sjoerd D. Joustra, Emregul Isik, Jan M. Wit, Gonul Catli, Ahmet Anik, Belma Haliloglu, Nurgun Kandemir, Elif Ozsu, Yvonne M.C. Hendriks, Christiaan de Bruin, Sarina G. Kant, Angel Campos-Barros, Rachel C. Challis, David Parry, Margaret E. Harley, Andrew Jackson, Monique Losekoot, Hermine A. van Duyvenvoorde
Publicado en: Hormone Research in Paediatrics, 2024, Página(s) 1-11, ISSN 1663-2818
Editor: Karger AG
DOI: 10.1159/000539696

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Autores: David A. Parry, Lukas Tamayo-Orrego, Paula Carroll, Joseph A. Marsh, Philip Greene, Olga Murina, Carolina Uggenti, Andrea Leitch, Rita Káposzta, Gabriella Merő, Andrea Nagy, Brigitta Orlik, Balázs Kovács-Pászthy, Alan J. Quigley, Magdolna Riszter, Julia Rankin, Martin A.M. Reijns, Katalin Szakszon, Andrew P. Jackson
Publicado en: Genes & Development, Edición 34/21-22, 2020, Página(s) 1520-1533, ISSN 0890-9369
Editor: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gad.340190.120

Growth in individuals with Saul–Wilson syndrome

Autores: Carlos R. Ferreira, Timothy Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober
Publicado en: American Journal of Medical Genetics Part A, Edición 182/9, 2020, Página(s) 2110-2116, ISSN 1552-4825
Editor: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.61754

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Autores: David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson
Publicado en: Genetics in Medicine, Edición 23/2, 2021, Página(s) 408-414, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-020-00980-3

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Autores: Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimo
Publicado en: Nature Communications, Edición 13(1), 2022, Página(s) 6664, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-022-34349-8

Defining the clinical phenotype of Saul–Wilson syndrome

Autores: Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth I. Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte Gjøl Haug, Luis Rohena, Hanne B. Hove, Zhi-Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn L. Earl, Emma Tham, Gen Nis
Publicado en: Genetics in Medicine, Edición 22/5, 2020, Página(s) 857-866, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-019-0737-1

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Autores: Patricia Heyn, Clare V. Logan, Adeline Fluteau, Rachel C. Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A. Marsh, Francesca Taglini, Fiona Kilanowski, David A. Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P. Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C. Allshire, Martin A. M. Reijns, Andrew Dauber, Duncan Sproul, Andrew P. Ja
Publicado en: Nature Genetics, Edición 51/1, 2019, Página(s) 96-105, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0274-x

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Autores: Lindsay C. Burrage, John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, Audrey E. Christiansen, Denise G. Lanza, John R. Seavitt, Mahim Jain, Xiaohui Li, David A. Parry, Vandana Raman, David Chitayat, Ivan K. Chinn, Alison A. Bertuch, Lefkothea Karaviti, Alan E. Schlesinger, Dawn Earl, Michael Bamshad, Ravi Savarirayan, Harsha Doddapanen
Publicado en: The American Journal of Human Genetics, Edición 104/3, 2019, Página(s) 422-438, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.01.007

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Autores: Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McC
Publicado en: The American Journal of Human Genetics, Edición 103/6, 2018, Página(s) 1038-1044, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.024

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Autores: Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell
Publicado en: Journal of Medical Genetics, Edición 57/3, 2020, Página(s) 195-202, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2019-106396

In silico protein interaction screening uncovers DONSON’s role in replication initiation

Autores: Yang Lim, Lukas Tamayo-Orrego, Ernst Schmid, Zygimante Tarnauskaite, Olga V. Kochenova, Rhian Gruar, Sachiko Muramatsu, Luke Lynch, Aitana Verdu Schlie, Paula L. Carroll, Gheorghe Chistol, Martin A. M. Reijns, Masato T. Kanemaki, Andrew P. Jackson, Johannes C. Walter
Publicado en: Science, Edición 381, 2024, ISSN 0036-8075
Editor: American Association for the Advancement of Science
DOI: 10.1126/science.adi3448

Book chapters (2)

RNU4atac-opathy

Autores: Duker A, Velasco D, Robertson N, Jackson AP, DeFelice M, Bober M
Publicado en: GeneReviews, Edición 16 February 2023, 2023
Editor: University of Washington, Seattle

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Autores: Duker A, Jackson A, Bober M.
Publicado en: GeneReviews, Edición 2021 Dec 30, 2021
Editor: University of Washington, Seattle