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Hamish Scott

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Publications

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Vivian Kont; Bruno Kyewski; Alexander Marx; Astrid Murumägi; Maire Pihlap; Hamish Scott; Philipp Ströbel; Liina Tserel; Lars-Oliver Tykocinski; Kylie E Webster; Sarah A Kinkel; Kalle V Kisand; Pärt Peterson
DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues.
FX Hubert; Sarah A Kinkel; Adrian Liston; Scott N Mueller; Belinda Phipson; Anna I Proietto; Hamish Scott; Gordon K Smyth; Li Wu; Ping Z F Cannon; Francis R Carbone; Gayle M Davey; Simon Forehan; Christopher C Goodnow; William R Heath
Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance.
Lydie Fasquelle; Hamish Scott; Marc Lenoir; Jing Wang; Guy Rebillard; Sophie Gaboyard-Niay; Stéphanie Venteo; Florence François; Anne-Laure Mausset-Bonnefont; Stylianos E Antonarakis; Elizabeth Neidhart; Christian Chabbert; Jean-Luc Puel; Michel Guipponi; Benjamin Delprat
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

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All Publications

2011: Vivian Kont; Bruno Kyewski; Alexander Marx; Astrid Murumägi; Maire Pihlap; Hamish Scott; Philipp Ströbel; Liina Tserel; Lars-Oliver Tykocinski; Kylie E Webster; Sarah A Kinkel; Kalle V Kisand; Pärt Peterson
DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues.
Molecular immunology 2011;49(3):518-26.
2011: FX Hubert; Sarah A Kinkel; Adrian Liston; Scott N Mueller; Belinda Phipson; Anna I Proietto; Hamish Scott; Gordon K Smyth; Li Wu; Ping Z F Cannon; Francis R Carbone; Gayle M Davey; Simon Forehan; Christopher C Goodnow; William R Heath
Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance.
Blood 2011;118(9):2462-72.
2011: Lydie Fasquelle; Hamish Scott; Marc Lenoir; Jing Wang; Guy Rebillard; Sophie Gaboyard-Niay; Stéphanie Venteo; Florence François; Anne-Laure Mausset-Bonnefont; Stylianos E Antonarakis; Elizabeth Neidhart; Christian Chabbert; Jean-Luc Puel; Michel Guipponi; Benjamin Delprat
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
The Journal of biological chemistry 2011;286(19):17383-97.
2011: King-Hwa Ling; Peter J Brautigan; Christopher N Hahn; Tasman Daish; John R Rayner; Pike-See Cheah; Joy M Raison; Sandra Piltz; Jeffrey R Mann; Deidre M Mattiske; Paul Q Thomas; David L Adelson; Hamish Scott
Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.
BMC genomics 2011;12():176.
2010: Hyun-Ja Ko; Sarah A Kinkel; FX Hubert; Zeyad Nasa; James Chan; Christopher Siatskas; Premila Hirubalan; Ban-Hock Toh; Hamish Scott; Frank Alderuccio
Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis.
European journal of immunology 2010;40(12):3499-509.
2010: Katherine Kedzierska; Sophie A Valkenburg; Carole Guillonneau; FX Hubert; Tania Cukalac; Joan M Curtis; John Stambas; Hamish Scott; Lukasz Kedzierski; Vanessa Venturi; Miles P Davenport
Diversity and clonotypic composition of influenza-specific CD8+ TCR repertoires remain unaltered in the absence of Aire.
European journal of immunology 2010;40(3):849-58.
2010: Chelsee A Hewitt; King-Hwa Ling; Tobias D Merson; Ken M Simpson; Matthew E Ritchie; Sarah L King; Melanie A Pritchard; Gordon K Smyth; Tim Thomas; Hamish Scott; Anne K Voss
Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome.
PloS one 2010;5(7):e11561.
2009: Anne L Fletcher; Tamara E Lowen; Samy Sakkal; Jessica J Reiseger; Maree V Hammett; Natalie Seach; Hamish Scott; Richard L Boyd; Ann P Chidgey
Ablation and regeneration of tolerance-inducing medullary thymic epithelial cells after cyclosporine, cyclophosphamide, and dexamethasone treatment.
Journal of immunology (Baltimore, Md. : 1950) 2009;183(2):823-31.
2009: Ian K Campbell; Sarah A Kinkel; Sarah F Drake; Annemarie van Nieuwenhuijze; FX Hubert; David M Tarlinton; William R Heath; Hamish Scott; Ian P Wicks
Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis.
Arthritis and rheumatism 2009;60(6):1683-93.
2009: Lucia Gagliardi; Cheri Hotu; Graeme Casey; Wilton J Braund; King-Hwa Ling; Thomas Dodd; James Manavis; Peter G Devitt; Richard Cutfield; Zbigniew Rudzki; Hamish Scott; David Torpy
Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.
Clinical endocrinology 2009;70(6):883-91.
2009: Novica M Milićević; Zivana Milićević; Milos D Miljković; Milica Labudović-Borović; Martti Laan; Pärt Peterson; Kai Kisand; Hamish Scott; Ning Qu; Jürgen Westermann
Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice.
Histochemistry and cell biology 2009;131(5):643-9.
2009: FX Hubert; Sarah A Kinkel; Pauline E Crewther; Ping Z F Cannon; Kylie E Webster; Maire Link; Raivo Uibo; Moira K O'Bryan; Anthony Meager; Simon P Forehan; Gordon K Smyth; Lauréane Mittaz; Stylianos E Antonarakis; Pärt Peterson; William R Heath; Hamish Scott
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
Journal of immunology (Baltimore, Md. : 1950) 2009;182(6):3902-18.
2009: Anne L Fletcher; Natalie Seach; Jessica J Reiseger; Tamara E Lowen; Maree V Hammett; Hamish Scott; Richard L Boyd
Reduced thymic Aire expression and abnormal NF-kappa B2 signaling in a model of systemic autoimmunity.
Journal of immunology (Baltimore, Md. : 1950) 2009;182(5):2690-9.
2009: Catherine L Carmichael; Ian J Majewski; Warren S Alexander; Donald Metcalf; Douglas J Hilton; Chelsee A Hewitt; Hamish Scott
Hematopoietic defects in the Ts1Cje mouse model of Down syndrome.
Blood 2009;113(9):1929-37.
2009: King-Hwa Ling; Chelsee A Hewitt; Tim Beissbarth; Lavinia Hyde; Kakoli Banerjee; Pike-See Cheah; Ping Z Cannon; Christopher N Hahn; Paul Q Thomas; Gordon K Smyth; Seong-Seng Tan; Tim Thomas; Hamish Scott
Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.
Genome biology 2009;10(10):R104.
2008: Lauren A Pitt; FX Hubert; Hamish Scott; Dale I Godfrey; Stuart P Berzins
NKT cell development in the absence of the autoimmune regulator gene (Aire).
European journal of immunology 2008;38(10):2689-96.
2008: Kai Kisand; Maire Link; Anette S B Wolff; Anthony Meager; Liina Tserel; Tõnis Org; Astrid Murumägi; Raivo Uibo; Nick Willcox; Katarina Trebusak Podkrajsek; Tadej Battelino; Anna Lobell; Kämpe Olle; Kari Lima; Antonella Meloni; Berrin Ergun-Longmire; Noel K Maclaren; Jaakko Perheentupa; KJ Krohn; Hamish Scott; Eystein S Husebye; Pärt Peterson
Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes.
Blood 2008;112(7):2657-66.
2008: Magali Irla; Stéphanie Hugues; Jason Gill; Takeshi Nitta; Yu Hikosaka; Ifor Williams; FX Hubert; Hamish Scott; Yousuke Takahama; Georg A Holländer; Walter Reith
Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity.
Immunity 2008;29(3):451-63.
2008: Natalie Seach; Tomoo Ueno; Anne L Fletcher; Tamara Lowen; Monika Mattesich; Christian R Engwerda; Hamish Scott; Carl Ware; Ann P Chidgey; Daniel H D Gray; Richard L Boyd
The lymphotoxin pathway regulates Aire-independent expression of ectopic genes and chemokines in thymic stromal cells.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(8):5384-92.
2008: Andrea J White; David Withers; Sonia M Parnell; Hamish Scott; Daniela Finke; Peter J L Lane; Eric J Jenkinson; Graham Anderson
Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input.
European journal of immunology 2008;38(4):942-7.
2008: FX Hubert; Sarah A Kinkel; Kylie E Webster; Ping Cannon; Pauline E Crewther; Anna I Proeitto; Li Wu; William R Heath; Hamish Scott
A specific anti-Aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(6):3824-32.
2008: Mohammad Alimohammadi; Peyman Björklund; Asa Hallgren; Nora Pöntynen; Gabor Szinnai; Noriko Shikama; Marcel P Keller; Olov Ekwall; Sarah A Kinkel; Eystein S Husebye; Jan Gustafsson; Fredrik Rorsman; Leena Peltonen; Corrado Betterle; Jaakko Perheentupa; Göran Akerström; Gunnar Westin; Hamish Scott; Georg A Holländer; Kämpe Olle
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
The New England journal of medicine 2008;358(10):1018-28.
2008: Claudia E Schaller; Clifford L Wang; Gabriele Beck-Engeser; Lindsie Goss; Hamish Scott; Mark S Anderson; Matthias Wabl
Expression of Aire and the early wave of apoptosis in spermatogenesis.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(3):1338-43.
2008: Brian J Ferguson; Clare Alexander; Simona Rossi; Ingrid Liiv; Ana Rebane; Catherine L Worth; Joyce Wong; Martti Laan; Pärt Peterson; Eric J Jenkinson; Graham Anderson; Hamish Scott; Anne Cooke; Tina Rich
AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.
The Journal of biological chemistry 2008;283(3):1723-31.
2008: Joëlle Michaud; Ken M Simpson; Robert Escher; Karine Buchet-Poyau; Tim Beissbarth; Catherine Carmichael; Matthew Ritchie; Frédéric Schütz; Ping Cannon; Marjorie Liu; Xiaofeng Shen; Yoshiaki Ito; Wendy H Raskind; Marshall S Horwitz; Motomi Osato; David R Turner; Terence P Speed; Maria Kavallaris; Gordon K Smyth; Hamish Scott
Integrative analysis of RUNX1 downstream pathways and target genes.
BMC genomics 2008;9():363.
2008: Michel Guipponi; Stylianos Antonarakis; Hamish Scott
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
Frontiers in bioscience : a journal and virtual library 2008;13():1557-67.
2008: Michel Guipponi; Min-Yen Toh; Justin Tan; Daeho Park; Kelly Hanson; Ester Ballana; David Kwong; Ping Z F Cannon; Qingyu Wu; Alex Gout; Mauro Delorenzi; Terence P Speed; Richard J H Smith; Hans-Henrik M Dahl; Michael Petersen; Rohan Teasdale; Xavier Estivill; Woo Jin Park; Hamish Scott
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Human mutation 2008;29(1):130-41.
2008: Vivian Kont; Martti Laan; Kai Kisand; Andres Merits; Hamish Scott; Pärt Peterson
Modulation of Aire regulates the expression of tissue-restricted antigens.
Molecular immunology 2008;45(1):25-33.
2007: Simona Rossi; Ann P Chidgey; Sonia M Parnell; William E Jenkinson; Hamish Scott; Richard L Boyd; Eric J Jenkinson; Graham Anderson
Redefining epithelial progenitor potential in the developing thymus.
European journal of immunology 2007;37(9):2411-8.
2007: Michel Guipponi; Justin Tan; Ping Z F Cannon; Lauren Donley; Pauline Crewther; Maria Clarke; Qingyu Wu; Robert K Shepherd; Hamish Scott
Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.
The American journal of pathology 2007;171(2):608-16.
2007: Robert Escher; Peter Wilson; Catherine Carmichael; Ram Suppiah; Marjorie Liu; Maria Kavallaris; Ping Cannon; Joäelle Michaud; Hamish Scott
A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia.
Blood cells, molecules & diseases 2007;39(1):107-14.
2007: Simona Rossi; Mi-Yeon Kim; Andreas Leibbrandt; Sonia M Parnell; William E Jenkinson; Stephanie H Glanville; Fiona M McConnell; Hamish Scott; Josef M Penninger; Eric J Jenkinson; Peter J L Lane; Graham Anderson
RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla.
The Journal of experimental medicine 2007;204(6):1267-72.
2007: Suyinn Chong; Nicola K Vickaryous; Alyson Ashe; Natasha Zamudio; Neil Youngson; Sarah Hemley; Tomas Stopka; Arthur I Skoultchi; Jacqui Matthews; Hamish Scott; David M de Kretser; Moira K O'Bryan; Marnie Blewitt; Emma Whitelaw
Modifiers of epigenetic reprogramming show paternal effects in the mouse.
Nature genetics 2007;39(5):614-22.
2007: Yoko Hamazaki; Harumi Fujita; Takashi Kobayashi; Yongwon Choi; Hamish Scott; Mitsuru Matsumoto; Nagahiro Minato
Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin.
Nature immunology 2007;8(3):304-11.
2007: Chelsee Ann Hewitt; Catherine Carmichael; Ella Jane Wilkins; Ping Zhi Fang Cannon; Melanie April Pritchard; Hamish Scott
Multiplex ligation-dependent probe amplification (MLPA) genotyping assay for mouse models of down syndrome.
Frontiers in bioscience : a journal and virtual library 2007;12():3010-6.
2006: William S Stevenson; Rosemary Hoyt; Anthony Bell; Michel Guipponi; Surender Juneja; Andrew P Grigg; David J Curtis; Hamish Scott; Jeff Szer; Warren S Alexander; Annabel Tuckfield; Andrew W Roberts
Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood.
Pathology 2006;38(4):336-42.
2006: Anna L Brown; Christopher R Wilkinson; Scott R Waterman; Chung H Kok; Diana G Salerno; Sonya M Diakiw; Brenton Reynolds; Hamish Scott; Anna Tsykin; Gary F Glonek; Gregory J Goodall; Patty J Solomon; Thomas J Gonda; Richard J D'Andrea
Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling.
Journal of leukocyte biology 2006;80(2):433-47.
2006: Qian Sang; Mary H Kim; Sharad Kumar; Nicole Bye; Maria Cristina Morganti-Kossmann; Jenny M Gunnersen; Stephanie Fuller; Jason Howitt; Lavinia Hyde; Tim Beissbarth; Hamish Scott; John Silke; Seong-Seng Tan
Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(27):7234-44.
2006: Amee J George; R. M. Damian Holsinger; Catriona A McLean; Seong-Seng Tan; Hamish Scott; Tina Cardamone; Roberto Cappai; Colin L Masters; Qiao-Xin Li
Decreased phosphatidylethanolamine binding protein expression correlates with Abeta accumulation in the Tg2576 mouse model of Alzheimer's disease.
Neurobiology of aging 2006;27(4):614-23.
2005: Thomas C Brodnicki; Anne L Fletcher; Daniel G Pellicci; Stuart P Berzins; Peter J McClive; Fiona Quirk; Kylie E Webster; Hamish Scott; Richard L Boyd; Dale I Godfrey; Grant Morahan
Localization of Idd11 is not associated with thymus and nkt cell abnormalities in NOD mice.
Diabetes 2005;54(12):3453-7.
2005: Hamish Scott
Technophiles seek genomic imperfections with the Greek gods at Atlantis.
Nature genetics 2005;37(10):1019-21.
2005: Michel Guipponi; Shane Herbert; Min Yen Toh; Karl Poetter; Susan Forrest; Hamish Scott
Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.
BioTechniques 2005;39(1):34, 36, 38, 40.
2005: Gordon K Smyth; Joëlle Michaud; Hamish Scott
Use of within-array replicate spots for assessing differential expression in microarray experiments.
Bioinformatics (Oxford, England) 2005;21(9):2067-75.
2005: Kylie E Webster; Moira K O'Bryan; Stephen Fletcher; Pauline E Crewther; Ulla Aapola; Jeff Craig; Dion K Harrison; Hnin Aung; Nawapen Phutikanit; Robert Lyle; Sarah J Meachem; Stylianos E Antonarakis; David M de Kretser; Mark P Hedger; Pärt Peterson; Bernard J Carroll; Hamish Scott
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(11):4068-73.
2004: Robert Escher; Antonia Jones; Fitsum G Hagos; Catherine Carmichael; Marshall Horwitz; Olufunmilayo I Olopade; Hamish Scott
Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms.
Genes, chromosomes & cancer 2004;41(3):278-82.
2004: Adrian Liston; Daniel H D Gray; Sylvie Lesage; Anne L Fletcher; Judith Wilson; Kylie E Webster; Hamish Scott; Richard L Boyd; Leena Peltonen; Christopher C Goodnow
Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.
The Journal of experimental medicine 2004;200(8):1015-26.
2004: Tim Beissbarth; Lavinia Hyde; Gordon K Smyth; Chris Job; Wee-Ming Boon; Seong-Seng Tan; Hamish Scott; Terence P Speed
Statistical modeling of sequencing errors in SAGE libraries.
Bioinformatics (Oxford, England) 2004;20 Suppl 1():i31-9.
2004: Robert Escher; Dominique Mühlematter; Hamish Scott; Martine Jotterand; Andreas Tobler
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia.
Haematologica 2004;89(8):ECR26.
2004: Irene Koukoulas; Cheryl Augustine; Nina Silkenbeumer; Jenny M Gunnersen; Hamish Scott; Seong-Seng Tan
Genomic organisation and nervous system expression of radial spoke protein 3.
Gene 2004;336(1):15-23.
2004: Robert Escher; Fitsum G Hagos; Joäelle Michaud; Lise Sveen; Marshall Horwitz; Olufunmilayo I Olopade; Hamish Scott
No evidence for core-binding factor CBFbeta as a leukemia predisposing factor in chromosome 16q22-linked familial AML.
Leukemia 2004;18(4):881.
2004: Olivier Menzel; Reidunn C J Bekkeheien; Alexandre Reymond; Naomi Fukai; Eileen Boye; Gyorgy Kosztolanyi; Salim Aftimos; Samuel Deutsch; Hamish Scott; Bjorn R Olsen; Stylianos E Antonarakis; Michel Guipponi
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Human mutation 2004;23(1):77-84.
2003: Marc Friedli; Michel Guipponi; Sonia Bertrand; Daniel Bertrand; Marguerite Neerman-Arbez; Hamish Scott; Stylianos E Antonarakis; Alexandre Reymond
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Gene 2003;320():31-40.
2003: Cong-Yi Wang; Jing-Da Shi; Ping Yang; Pradeep G Kumar; Quan-Zhen Li; Qing-Guo Run; Yun-Chao Su; Hamish Scott; Kuo-Jang Kao; Jin-Xiong She
Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).
Gene 2003;306():37-44.
2003: Maria D Lalioti; Stylianos E Antonarakis; Hamish Scott
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
Cytogenetic and genome research 2003;100(1-4):213-23.
2003: Joäelle Michaud; Hamish Scott; Robert Escher
AML1 interconnected pathways of leukemogenesis.
Cancer investigation 2003;21(1):105-36.
2003: Seth Blackshaw; Winston Kuo; Peter J Park; Motokazu Tsujikawa; Jenny M Gunnersen; Hamish Scott; Wee-Ming Boon; Seong-Seng Tan; Constance L Cepko
MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues.
Genome biology 2003;4(3):R17.
2002: William R Heath; Hamish Scott
Immunology: education and promiscuity.
Nature 2002;420(6915):468-9.
2002: Michel Guipponi; Grégoire Vuagniaux; Marie Wattenhofer; Kazunori Shibuya; Maria Vazquez; Loretta Dougherty; Nathalie Scamuffa; Elizabeth Guida; Michiyo Okui; Colette Rossier; Manuela Hancock; Karine Buchet; Alexandre Reymond; Edith Hummler; Phillip L Marzella; Jun Kudoh; Nobuyoshi Shimizu; Hamish Scott; Stylianos E Antonarakis; Bernard C Rossier
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Human molecular genetics 2002;11(23):2829-36.
2002: Joäelle Michaud; Feng Wu; Motomi Osato; Gregory M Cottles; Masatoshi Yanagida; Norio Asou; Shigesada Katsuya; Yoshiaki Ito; Kathleen F Benson; Wendy H Raskind; Colette Rossier; Stylianos E Antonarakis; Sara J Israels; Archibald McNicol; Harvey Weiss; Marshall Horwitz; Hamish Scott
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Blood 2002;99(4):1364-72.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2001: Stylianos E Antonarakis; Robert Lyle; R Chrast; Hamish Scott
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome.
Brain research. Brain research reviews 2001;36(2-3):265-74.
2001: M Heino; Pärt Peterson; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott; Kai Krohn
APECED mutations in the autoimmune regulator (AIRE) gene.
Human mutation 2001;18(3):205-11.
2001: Saber Masmoudi; Stylianos E Antonarakis; Torsten Schwede; Ali Ghorbel; M Gratri; M P Pappasavas; Mohamed Drira; A Elgaied-Boulila; Marie Wattenhofer; Colette Rossier; Hamish Scott; Hammadi Ayadi; Michel Guipponi
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Human mutation 2001;18(2):101-8.
2001: Tamar Ben-Yosef; Marie Wattenhofer; S Riazuddin; Z M Ahmed; Hamish Scott; Jun Kudoh; Kazunori Shibuya; Stylianos E Antonarakis; Batsheva Bonne-Tamir; Uppala Radhakrishna; Sadaf Naz; Zubair M Ahmed; Sheikh Amer Riazuddin; Arti Pandya; Walter E Nance; Edward R Wilcox; Thomas B Friedman; Robert J Morell
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Journal of medical genetics 2001;38(6):396-400.
2001: Lucia Bartoloni; Jean-Louis Blouin; Amit K Maiti; AJ Sainsbury; Colette Rossier; Corinne Gehrig; Jin-Xiong She; M P Marron; E S Lander; Maggie Meeks; E Chung; Miguel Armengot; Mark Jorissen; Hamish Scott; Celia Delozier-Blanchet; R Mark Gardiner; Stylianos E Antonarakis
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
Genomics 2001;72(1):21-33.
2001: Marie Wattenhofer; Kazunori Shibuya; Jun Kudoh; Robert Lyle; Joäelle Michaud; Colette Rossier; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; A Berry; Batsheva Bonne-Tamir; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
Human genetics 2001;108(2):140-7.
2001: Samuel Deutsch; Christian Iseli; Philipp Bucher; Stylianos E Antonarakis; Hamish Scott
A cSNP map and database for human chromosome 21.
Genome research 2001;11(2):300-7.
2001: Hamish Scott; R Chrast
Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).
Genetic engineering 2001;23():201-19.
2001: Hamish Scott; Jun Kudoh; Marie Wattenhofer; Kazunori Shibuya; A Berry; R Chrast; Michel Guipponi; J Wang; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; F Younus; S Qasim Mehdi; Uppala Radhakrishna; MP Papasavvas; Corinne Gehrig; Colette Rossier; Michael Korostishevsky; A Gal; Nobuyoshi Shimizu; Batsheva Bonne-Tamir; Stylianos E Antonarakis
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Nature genetics 2001;27(1):59-63.
2000: R Chrast; Hamish Scott; MP Papasavvas; Colette Rossier; E S Antonarakis; C Barras; Muriel T Davisson; C Schmidt; Xavier Estivill; Mara Dierssen; M Pritchard; Stylianos E Antonarakis
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.
Genome research 2000;10(12):2006-21.
2000: Lucia Bartoloni; Marie Wattenhofer; Jun Kudoh; A Berry; Kazunori Shibuya; K Kawasaki; J Wang; Shuichi Asakawa; Ilana Talior; Batsheva Bonne-Tamir; Colette Rossier; Joäelle Michaud; Edward RB McCabe; Shinsei Minoshima; Nobuyoshi Shimizu; Hamish Scott; Stylianos E Antonarakis
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Genomics 2000;70(2):190-200.
2000: Joäelle Michaud; Jun Kudoh; A Berry; Batsheva Bonne-Tamir; Maria D Lalioti; Colette Rossier; Kazunori Shibuya; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.
Genomics 2000;68(1):71-9.
2000: Michel Guipponi; K Brunschwig; Z Chamoun; Hamish Scott; K Shibuya; Jun Kudoh; A L Delezoide; S El Samadi; Zoubida Chettouh; Colette Rossier; Nobuyoshi Shimizu; F Mueller; Jean-Maurice Delabar; Stylianos E Antonarakis
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.
Genomics 2000;68(1):30-40.
2000: A Berry; Hamish Scott; Jun Kudoh; Ilana Talior; Michael Korostishevsky; Marie Wattenhofer; Michel Guipponi; C Barras; Colette Rossier; Kazunori Shibuya; J Wang; K Kawasaki; Shuichi Asakawa; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis; B Bonné-Tamir
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
Genomics 2000;68(1):22-9.
2000: R Chrast; Hamish Scott; Rime MADANI; L Huber; David P Wolfer; M Prinz; A Aguzzi; Hans-Peter Lipp; Stylianos E Antonarakis
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.
Human molecular genetics 2000;9(12):1853-64.
2000: M Heino; Pärt Peterson; Niko Sillanpää; S Guérin; L Wu; G Anderson; Hamish Scott; Stylianos E Antonarakis; Jun Kudoh; Nobuyoshi Shimizu; E J Jenkinson; Philippe Naquet; KJ Krohn
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
European journal of immunology 2000;30(7):1884-93.
2000: Jukka Pitkänen; Vassilis Doucas; Thomas Sternsdorf; T Nakajima; S Aratani; Kirsten Jensen; Hans Will; Perttu Vähämurto; Juha Ollila; Mauno Vihinen; Hamish Scott; Stylianos E Antonarakis; Jun Kudoh; Nobuyoshi Shimizu; Kai Krohn; Pärt Peterson
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
The Journal of biological chemistry 2000;275(22):16802-9.
2000: Ulla Aapola; K Kawasaki; Hamish Scott; Juha Ollila; Mauno Vihinen; M Heino; A Shintani; K Kawasaki; Shinsei Minoshima; Kai Krohn; Stylianos E Antonarakis; Nobuyoshi Shimizu; Jun Kudoh; Pärt Peterson
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.
Genomics 2000;65(3):293-8.
2000: Hamish Scott; Stylianos E Antonarakis; L Mittaz; Maria D Lalioti; F Younus; Aisha Mohyuddin; S Qasim Mehdi; A Gal
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.
Advances in oto-rhino-laryngology 2000;56():158-63.
1999: Erich Roessler; L Mittaz; Y Du; Hamish Scott; J Chang; Colette Rossier; Michel Guipponi; S P Matsuda; Maximilian Muenke; Stylianos E Antonarakis
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).
Human genetics 1999;105(5):489-95.
1999: H Chen; Colette Rossier; Michael Morris; Hamish Scott; A Gos; Amos Bairoch; Stylianos E Antonarakis
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y.
Human genetics 1999;105(5):399-409.
1999: Uppala Radhakrishna; Dorothea Bornholdt; Hamish Scott; Uday C Patel; Colette Rossier; Hartmut Engel; Armand Bottani; D Chandal; Jean-Louis Blouin; Jitendra V Solanki; Karl-Heinz Grzeschik; Stylianos E Antonarakis
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics 1999;65(3):645-55.
1999: Maria D Lalioti; Hamish Scott; Stylianos E Antonarakis
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.
Human molecular genetics 1999;8(9):1791-8.
1999: M Heino; Pärt Peterson; Jun Kudoh; Kentaro Nagamine; Anssi Lagerstedt; Vladimir Ovod; Annamari Ranki; Immo Rantala; M Nieminen; J Tuukkanen; Hamish Scott; Stylianos E Antonarakis; Nobuyoshi Shimizu; Kai Krohn
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.
Biochemical and biophysical research communications 1999;257(3):821-5.
1999: R Chrast; Hamish Scott; Stylianos E Antonarakis
Linearization and purification of BAC DNA for the development of transgenic mice.
Transgenic research 1999;8(2):147-50.
1999: L Mittaz; Colette Rossier; M Heino; Pärt Peterson; KJ Krohn; A Gos; Michael Morris; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis; Hamish Scott
Isolation and characterization of the mouse Aire gene.
Biochemical and biophysical research communications 1999;255(2):483-90.
1999: M Heino; Hamish Scott; Q Chen; Pärt Peterson; U Mäebpää; MP Papasavvas; L Mittaz; C Barras; Colette Rossier; George Chrousos; Constantine Straturis; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; N Maclaren; Stylianos E Antonarakis; Kai Krohn
Mutation analyses of North American APS-1 patients.
Human mutation 1999;13(1):69-74.
1998: Hamid Mehenni; Corinne Gehrig; Jun-ichi Nezu; A Oku; Miyuki Shimane; Colette Rossier; N Guex; Jean-Louis Blouin; Hamish Scott; Stylianos E Antonarakis
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
American journal of human genetics 1998;63(6):1641-50.
1998: Michel Guipponi; Hamish Scott; H Chen; A Schebesta; Colette Rossier; Stylianos E Antonarakis
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.
Genomics 1998;53(3):369-76.
1998: Maria Cristina Rosatelli; meloni alessandra; A Meloni; M Devoto; Antonio Cao; Hamish Scott; Pärt Peterson; M Heino; KJ Krohn; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics 1998;103(4):428-34.
1998: Michel Guipponi; Hamish Scott; Jun Kudoh; K Kawasaki; Kazunori Shibuya; A Shintani; Shuichi Asakawa; H Chen; Maria D Lalioti; Colette Rossier; Shinsei Minoshima; Nobuyoshi Shimizu; Stylianos E Antonarakis
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.
Human genetics 1998;103(4):386-92.
1998: Hamish Scott; M Heino; Pärt Peterson; L Mittaz; Maria D Lalioti; C Betterle; A Cohen; M Seri; M Lerone; Giovanni Romeo; P Collin; M Salo; Russell A Metcalfe; Anthony P Weetman; MP Papasavvas; Colette Rossier; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; KJ Krohn; Stylianos E Antonarakis
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Molecular endocrinology (Baltimore, Md.) 1998;12(8):1112-9.
1998: Maria D Lalioti; Hamish Scott; Pierre Genton; Djamel Grid; Reda Ouazzani; A M'Rabet; S Ibrahim; Riadh Gouider; Charlotte Dravet; Taïeb Chkili; Armand Bottani; Catherine Buresi; Alain Malafosse; Stylianos E Antonarakis
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
American journal of human genetics 1998;62(4):842-7.
1998: Hamish Scott; Stylianos E Antonarakis; Maria D Lalioti; Colette Rossier; P A Silver; M F Henry
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2).
Genomics 1998;48(3):330-40.
1998: Michel Guipponi; Hamish Scott; M Hattori; K Ishii; Y Sakaki; Stylianos E Antonarakis
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.
Cytogenetics and cell genetics 1998;83(3-4):218-20.
1998: Hamish Scott; D S Kyriakou; Pärt Peterson; M Heino; M Tähtinen; Kai Krohn; H Chen; Colette Rossier; Maria D Lalioti; Stylianos E Antonarakis
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.
Genomics 1998;47(1):64-70.
1997: Kentaro Nagamine; Pärt Peterson; Hamish Scott; Jun Kudoh; Shinsei Minoshima; M Heino; KJ Krohn; Maria D Lalioti; P E Mullis; Stylianos E Antonarakis; K Kawasaki; Shuichi Asakawa; F Ito; Nobuyoshi Shimizu
Positional cloning of the APECED gene.
Nature genetics 1997;17(4):393-8.
1997: Maria D Lalioti; Hamish Scott; Stylianos Antonarakis
What is expanded in progressive myoclonus epilepsy?
Nature genetics 1997;17(1):17.
1997: L Mittaz; Stylianos E Antonarakis; M Higuchi; Hamish Scott
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.
Human genetics 1997;100(3-4):398-400.
1997: R Chrast; Hamish Scott; Haiming Chen; Jun Kudoh; Colette Rossier; Shinsei Minoshima; Y Wang; Nobuyoshi Shimizu; Stylianos E Antonarakis
Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.
Genome research 1997;7(6):615-24.
1997: Hamish Scott; H Chen; Colette Rossier; Maria D Lalioti; Stylianos E Antonarakis
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.
Human genetics 1997;99(5):616-23.
1997: Maria D Lalioti; Hamish Scott; Catherine Buresi; Colette Rossier; Armand Bottani; Michael Morris; Alain Malafosse; Stylianos E Antonarakis
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
Nature 1997;386(6627):847-51.
1997: L Mittaz; Hamish Scott; Colette Rossier; P H Seeburg; M Higuchi; Stylianos E Antonarakis
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.
Genomics 1997;41(2):210-7.