The smallest of the small: determining size through cell number

Informazioni relative al progetto

GrowCELL

ID dell’accordo di sovvenzione: 788093

DOI

10.3030/788093

Data della firma CE 18 Giugno 2018

Data di avvio 1 Agosto 2018

Data di completamento 31 Gennaio 2026

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 2 500 000,00

Contributo UE

€ 2 500 000,00

Coordinato da

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (14)

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

Autori: 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
Pubblicato in: Nature Cancer, Numero 1/8, 2020, Pagina/e 840-854, ISSN 2662-1347
Editore: 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

Autori: 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
Pubblicato in: Nature Cancer, Numero 2, 2022, Pagina/e 575-575, ISSN 2662-1347
Editore: Springer Nature
DOI: 10.1038/s43018-021-00205-9

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Autori: 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
Pubblicato in: Human Mutation, Numero 40 (8), 2019, Pagina/e 1063-1070, ISSN 1059-7794
Editore: John Wiley & Sons Inc.
DOI: 10.1002/humu.23776

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Autori: 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
Pubblicato in: Hormone Research in Paediatrics, 2024, Pagina/e 1-11, ISSN 1663-2818
Editore: Karger AG
DOI: 10.1159/000539696

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Autori: 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
Pubblicato in: Genes & Development, Numero 34/21-22, 2020, Pagina/e 1520-1533, ISSN 0890-9369
Editore: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gad.340190.120

Growth in individuals with Saul–Wilson syndrome

Autori: Carlos R. Ferreira, Timothy Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober
Pubblicato in: American Journal of Medical Genetics Part A, Numero 182/9, 2020, Pagina/e 2110-2116, ISSN 1552-4825
Editore: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.61754

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

Autori: 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
Pubblicato in: Genetics in Medicine, Numero 23/2, 2021, Pagina/e 408-414, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-020-00980-3

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

Autori: 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
Pubblicato in: Nature Communications, Numero 13(1), 2022, Pagina/e 6664, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-022-34349-8

Defining the clinical phenotype of Saul–Wilson syndrome

Autori: 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
Pubblicato in: Genetics in Medicine, Numero 22/5, 2020, Pagina/e 857-866, ISSN 1098-3600
Editore: 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

Autori: 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
Pubblicato in: Nature Genetics, Numero 51/1, 2019, Pagina/e 96-105, ISSN 1061-4036
Editore: 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

Autori: 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
Pubblicato in: The American Journal of Human Genetics, Numero 104/3, 2019, Pagina/e 422-438, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.01.007

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Autori: 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
Pubblicato in: The American Journal of Human Genetics, Numero 103/6, 2018, Pagina/e 1038-1044, ISSN 0002-9297
Editore: 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

Autori: 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
Pubblicato in: Journal of Medical Genetics, Numero 57/3, 2020, Pagina/e 195-202, ISSN 0022-2593
Editore: British Medical Association
DOI: 10.1136/jmedgenet-2019-106396

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

Autori: 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
Pubblicato in: Science, Numero 381, 2024, ISSN 0036-8075
Editore: American Association for the Advancement of Science
DOI: 10.1126/science.adi3448

Book chapters (2)

RNU4atac-opathy

Autori: Duker A, Velasco D, Robertson N, Jackson AP, DeFelice M, Bober M
Pubblicato in: GeneReviews, Numero 16 February 2023, 2023
Editore: University of Washington, Seattle

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Autori: Duker A, Jackson A, Bober M.
Pubblicato in: GeneReviews, Numero 2021 Dec 30, 2021
Editore: University of Washington, Seattle