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Mads Bak

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Lars Hansen; Taroh Kinoshita; Yusuke Maeda; Yuan Mang; Safia Muhammad; Yoshiko Murakami; Markus M Nöthen; André Reis; Stefanie Schaffer; Hasan Tawamie; Niels Tommerup; Shoaib ur Rehman; Michael Aigner; Shahid Mahmood Baig; Mads Bak; Eric P Bennett; Rebecca Buchert; Rami Abou Jamra
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Christina Halgren; Mikkel Wanting Myatt; Claire Marie Anderson; Iben Bache; Mads Bak; Karen Brøndum-Nielsen; Niels Tommerup
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
C Halgren; C Hansen; K F Henriksen; H Hjalgrim; B Isidor; Maria Kirchhoff; S Kjaergaard; Cédric Le Caignec; Francesca Mari; M Mucciolo; M Nielsen; Alessandra Renieri; Claudia Ruivenkamp; Niels Tommerup; R Zannolli; B-M Anderlid; C M Anderson; J Andrieux; Mads Bak; Emilia K Bijlsma; Nicolette S den Hollander; A Dieux; Z El-Schich; Iben Bache
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

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All Publications

2013: Lars Hansen; Taroh Kinoshita; Yusuke Maeda; Yuan Mang; Safia Muhammad; Yoshiko Murakami; Markus M Nöthen; André Reis; Stefanie Schaffer; Hasan Tawamie; Niels Tommerup; Shoaib ur Rehman; Michael Aigner; Shahid Mahmood Baig; Mads Bak; Eric P Bennett; Rebecca Buchert; Rami Abou Jamra
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
American journal of human genetics 2013;92(4):575-83.
2012: Christina Halgren; Mikkel Wanting Myatt; Claire Marie Anderson; Iben Bache; Mads Bak; Karen Brøndum-Nielsen; Niels Tommerup
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
European journal of human genetics : EJHG 2012;20(12):1315-9.
2012: C Halgren; C Hansen; K F Henriksen; H Hjalgrim; B Isidor; Maria Kirchhoff; S Kjaergaard; Cédric Le Caignec; Francesca Mari; M Mucciolo; M Nielsen; Alessandra Renieri; Claudia Ruivenkamp; Niels Tommerup; R Zannolli; B-M Anderlid; C M Anderson; J Andrieux; Mads Bak; Emilia K Bijlsma; Nicolette S den Hollander; A Dieux; Z El-Schich; Iben Bache
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Clinical genetics 2012;82(3):248-55.
2012: Sheroy Minocherhomji; Henrik Nielsen; Nickolas Papadopoulos; Stefan Seemann; Mads Bak; Zahra El-Schich; Jan Gorodkin; Claus Hansen; Knud Josefsen; Yuan Mang; Niels Tommerup; Asli N Silahtaroglu
Sequence and expression analysis of gaps in human chromosome 20.
Nucleic acids research 2012;40(14):6660-72.
2012: Christian B Brøchner; Anne Grete Byskov; Julia S Johansen; Lars A Larsen; Hanne B Mikkelsen; Claus Yding Andersen; Mads Bak; Kjeld Møllgård
YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2012;60(3):188-204.
2012: Mette Sloth Mogensen; Helle Friis Proschowsky; Karsten Scheibye-Alsing; Niels Tommerup; Mads Bak; Vibeke Frøkjær Jensen; Haja N Kadarmideen; Peter Karlskov-Mortensen; Merete Fredholm
Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus.
Frontiers in genetics 2012;3():225.
2012: Agnieszka Podolska; Kerstin Skovgaard; Niels Tommerup; Jan Gorodkin; Peter M H Heegaard; Christian Anthon; Mads Bak; Susanna Cirera; Merete Fredholm
Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae.
BMC genomics 2012;13():459.
2012: Nikolaj Dietrich; Shuchi Agrawal-Singh; Mads Bak; Eskild Landt; Mads Lerdrup; Juri Rappsilber; Erik Södersten; Niels Tommerup; Klaus Hansen
REST-mediated recruitment of polycomb repressor complexes in mammalian cells.
PLoS genetics 2012;8(3):e1002494.
2011: Mette Gilling; Karen Friis Henriksen; Vera M Kalscheuer; Ulf Kristoffersson; Allan Lind-Thomsen; Yuan Mang; Morten Møller; Mads Bak; Merete Bugge; Zeynep Tümer; Reinhard Ullmann; Niels Tommerup
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
European journal of medical genetics 2011;54(4):e383-8.
2010: Mette Boyd; Morten Hansen; Tine G K Jensen; Anna Perearnau; Anders K Olsen; Lotte L Bram; Mads Bak; Niels Tommerup; Jørgen Olsen; Jesper T Troelsen
Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2).
The Journal of biological chemistry 2010;285(33):25115-25.
2010: Daniela Kleine-Kohlbrecher; Jesper Christensen; Julien Vandamme; Iratxe Abarrategui; Mads Bak; Niels Tommerup; Xiaobing Shi; Or Gozani; Juri Rappsilber; Anna Elisabetta Salcini; Kristian Helin
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.
Molecular cell 2010;38(2):165-78.
2010: Xi Liu; Lorenzo F Sempere; Haoxu Ouyang; Vincent A Memoli; Angeline S Andrew; Yue Luo; Eugene Demidenko; Murray Korc; Wei Shi; Meir Preis; Konstantin H Dragnev; Hua Li; James Direnzo; Mads Bak; Sarah J Freemantle; Sakari Kauppinen; Ethan Dmitrovsky
MicroRNA-31 functions as an oncogenic microRNA in mouse and human lung cancer cells by repressing specific tumor suppressors.
The Journal of clinical investigation 2010;120(4):1298-309.
2010: Diego Pasini; Paul A C Cloos; Julian Walfridsson; Linda Olsson; John-Paul Bukowski; Jens V Johansen; Mads Bak; Niels Tommerup; Juri Rappsilber; Kristian Helin
JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells.
Nature 2010;464(7286):306-10.
2009: Xi Liu; Lorenzo F Sempere; Fabrizio Galimberti; Sarah J Freemantle; Candice Black; Konstantin H Dragnev; Yan Ma; Steven Fiering; Vincent A Memoli; Hua Li; James DiRenzo; Murray Korc; Charles N Cole; Mads Bak; Sakari Kauppinen; Ethan Dmitrovsky
Uncovering growth-suppressive MicroRNAs in lung cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2009;15(4):1177-83.
2008: Janni Vestergaard; Allan Lind-Thomsen; Mikkel W Pedersen; Hanne Ostergaard Jarmer; Mads Bak; Lis Hasholt; Niels Tommerup; Zeynep Tümer; Lars Larsen
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.
DNA and cell biology 2008;27(5):251-6.
2008: Mads Bak; Asli N Silahtaroglu; Morten Møller; Mette Christensen; Martin F Rath; Boris Skryabin; Niels Tommerup; Sakari Kauppinen
MicroRNA expression in the adult mouse central nervous system.
RNA (New York, N.Y.) 2008;14(3):432-44.
2008: Joacim Elmén; Morten Lindow; Asli N Silahtaroglu; Mads Bak; Mette Christensen; Allan Lind-Thomsen; Maj Hedtjärn; Jens Bo Hansen; Henrik Frydenlund Hansen; Ellen Marie Straarup; Keith McCullagh; Phil Kearney; Sakari Kauppinen
Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liver.
Nucleic acids research 2008;36(4):1153-62.
2007: Lorenzo F Sempere; Mette Christensen; Asli N Silahtaroglu; Mads Bak; Catherine V Heath; Gary Schwartz; Wendy Wells; Sakari Kauppinen; Charles N Cole
Altered MicroRNA expression confined to specific epithelial cell subpopulations in breast cancer.
Cancer research 2007;67(24):11612-20.
2007: Merete Bugge; ANDREW COLLINS; Jens Michael Hertz; Hans Eiberg; Claes Lundsteen; Carsten A Brandt; Mads Bak; Claus Hansen; Celia D Delozier; James Lespinasse; Lisbeth Tranebjaerg; Johanne M D Hahnemann; Kirsten Rasmussen; Gert Bruun-Petersen; Laurence Duprez; Niels Tommerup; Michael B Petersen
Non-disjunction of chromosome 13.
Human molecular genetics 2007;16(16):2004-10.
2006: Mads Bak; Lene Conley; Jakob Hedegaard; Lars Larsen; Peter Sørensen; Christian Bendixen; Niels Tommerup
Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.
Analytical biochemistry 2006;358(1):111-9.
2005: Merete Bugge; Celia Delozier-Blanchet; Mads Bak; Carsten A Brandt; Jens Michael Hertz; Jytte Bieber Nielsen; Laurance Duprez; Michael B Petersen
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.
American journal of medical genetics. Part A 2005;132A(3):310-3.
2005: Janni Vestergaard; Mads Bak; Lars Larsen
The hedgehog signaling pathway in cancer.
Progress in molecular and subcellular biology 2005;40():1-28.
2004: Mads Bak; Claus Hansen; Karen Friis Henriksen; Lars Hansen; Henning Pakkenberg; Hans Eiberg; Niels Tommerup
Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.
Brain research. Molecular brain research 2004;126(2):207-11.
2003: Mads Bak; Claus Hansen; Niels Tommerup; Lars Larsen
The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.
Pharmacogenomics 2003;4(4):411-29.
2001: Mads Bak; Claus Hansen; Karen Friis-Henriksen; Niels Tommerup
The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3.
Cytogenetics and cell genetics 2001;92(3-4):300-3.