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Bart Janssen

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Verena Peters; Erwin E W Jansen; Cornelis Jakobs; Eva Riedl; Bart Janssen; Benito A Yard; Johannes Wedel; Georg F Hoffmann; Johannes Zschocke; Daniel Gotthardt; Christine Fischer; Hannes Köppel
Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration.
Eva Riedl; Hannes Koeppel; Frederick Pfister; Verena Peters; Sibylle Sauerhoefer; Paula Sternik; Paul Brinkkoetter; Hanswalter Zentgraf; gerjan navis; Robert H Henning; Jacob Van Den Born; Stephan J L Bakker; Bart Janssen; Fokko J van der Woude; Benito A Yard
N-glycosylation of carnosinase influences protein secretion and enzyme activity: implications for hyperglycemia.
Antien L Mooyaart; Ana Zutinic; Stephan J L Bakker; Diana C Grootendorst; Nanne Kleefstra; Irene G M van Valkengoed; Stefan Boehringer; Henk J G Bilo; Friedo W Dekker; Jan Anthonie Bruijn; gerjan navis; Bart Janssen; Hans J Baelde; Emile De Heer
Association between CNDP1 genotype and diabetic nephropathy is sex specific.

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All Publications

2011: Verena Peters; Erwin E W Jansen; Cornelis Jakobs; Eva Riedl; Bart Janssen; Benito A Yard; Johannes Wedel; Georg F Hoffmann; Johannes Zschocke; Daniel Gotthardt; Christine Fischer; Hannes Köppel
Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration.
Clinica chimica acta; international journal of clinical chemistry 2011;412(3-4):263-7.
2010: Eva Riedl; Hannes Koeppel; Frederick Pfister; Verena Peters; Sibylle Sauerhoefer; Paula Sternik; Paul Brinkkoetter; Hanswalter Zentgraf; gerjan navis; Robert H Henning; Jacob Van Den Born; Stephan J L Bakker; Bart Janssen; Fokko J van der Woude; Benito A Yard
N-glycosylation of carnosinase influences protein secretion and enzyme activity: implications for hyperglycemia.
Diabetes 2010;59(8):1984-90.
2010: Antien L Mooyaart; Ana Zutinic; Stephan J L Bakker; Diana C Grootendorst; Nanne Kleefstra; Irene G M van Valkengoed; Stefan Boehringer; Henk J G Bilo; Friedo W Dekker; Jan Anthonie Bruijn; gerjan navis; Bart Janssen; Hans J Baelde; Emile De Heer
Association between CNDP1 genotype and diabetic nephropathy is sex specific.
Diabetes 2010;59(6):1555-9.
2010: Verena Peters; Moustafa Kebbewar; Erwin W Jansen; Cornelis Jakobs; Eva Riedl; Hannes Koeppel; Dirk Frey; Katja Adelmann; Kristina Klingbeil; Matthias Mack; Georg F Hoffmann; Bart Janssen; Johannes Zschocke; Benito A Yard
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity.
Amino acids 2010;38(5):1607-15.
2010: Silvia Ulrich; Justyna Szamalek-Hoegel; Martin Hersberger; Manuel Fischler; Jesus Solera Garcia; Lars C Huber; Ekkehard Grünig; Bart Janssen; Rudolf Speich
Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease.
Respiration; international review of thoracic diseases 2010;79(4):279-87.
2009: Inga Harting; Angelika Seitz; Dietz Rating; Klaus Sartor; Johannes Zschocke; Bart Janssen; Friedrich Ebinger; Nicole I Wolf
Abnormal myelination in Angelman syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(3):271-6.
2009: Ekkehard Grünig; Sylvia Weissmann; Nicola Ehlken; Anna Fijalkowska; Christine Fischer; Thierry Fourme; Nazzareno Galié; Ardeschir Ghofrani; Rachel E Harrison; Sandrine Huez; Marc Humbert; Bart Janssen; Jaroslaw Kober; Rolf Koehler; Rajiv D Machado; Derliz Mereles; Robert Naeije; Horst Olschewski; Steeve Provencher; Frank Reichenberger; Kathleen Retailleau; Guido Rocchi; Gérald Simonneau; Adam Torbicki; Richard Trembath; Werner Seeger
Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia.
Circulation 2009;119(13):1747-57.
2007: Eva Riedl; Hannes Koeppel; Paul T Brinkkoetter; Paula Sternik; Herbert Steinbeisser; Sibylle Sauerhoefer; Bart Janssen; Fokko J van der Woude; Benito A Yard
A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells.
Diabetes 2007;56(9):2410-3.
2007: Nicola Dikow; Anders O H Nygren; Jan P Schouten; Carolin Hartmann; Nikola Krämer; Bart Janssen; Johannes Zschocke
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
Molecular and cellular probes 2007;21(3):208-15.
2007: Barry I Freedman; Pamela J Hicks; Michèle M Sale; Eric D Pierson; Carl D Langefeld; Stephen S Rich; Jianzhao Xu; Caitrin McDonough; Bart Janssen; Benito A Yard; Fokko J van der Woude; Donald W Bowden
A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(4):1131-5.
2006: Johannes Zschocke; Almut Nebel; Kate Wicks; Verena Peters; Nour Eddine El Mokhtari; Michael Krawczak; Fokko J van der Woude; Bart Janssen; Stefan Schreiber
Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease.
Mechanisms of ageing and development 2006;127(11):817-20.
2006: Rajiv D Machado; Rolf Koehler; Eric Glissmeyer; Colin Veal; Jay Suntharalingam; Miryoung Kim; John F Carlquist; Margaret Town; C Gregory Elliott; Marius M Hoeper; Anna Fijalkowska; Marcin Kurzyna; Jennifer R Thomson; Simon R Gibbs; Martin R Wilkins; Werner Seeger; Nicholas W Morrell; Ekkehard Gruenig; Richard C Trembath; Bart Janssen
Genetic association of the serotonin transporter in pulmonary arterial hypertension.
American journal of respiratory and critical care medicine 2006;173(7):793-7.
2006: Rajiv D Machado; Micheala A Aldred; Victoria James; Rachel E Harrison; Bhakti Patel; Edward C Schwalbe; Ekkehard Gruenig; Bart Janssen; Rolf Koehler; Werner Seeger; Oliver Eickelberg; Horst Olschewski; C Gregory Elliott; Eric Glissmeyer; John Carlquist; Miryoung Kim; Adam Torbicki; Anna Fijalkowska; Grzegorz Szewczyk; Jasmine Parma; Marc J Abramowicz; Nazzareno Galie; Hiroko Morisaki; Shingo Kyotani; Norifumi Nakanishi; Takayuki Morisaki; Marc Humbert; Gerald Simonneau; Olivier Sitbon; Florent Soubrier; Florence Coulet; Nicholas W Morrell; Richard C Trembath
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Human mutation 2006;27(2):121-32.
2006: Josef Finsterer; Claudia Stöllberger; Kurt Gaismayer; Bart Janssen
Acquired noncompaction in Duchenne muscular dystrophy.
International journal of cardiology 2006;106(3):420-1.
2005: Ekkehard Grünig; Christoph Dehnert; Derliz Mereles; Rolf Koehler; Horst Olschewski; Peter Bärtsch; Bart Janssen
Enhanced hypoxic pulmonary vasoconstriction in families of adults or children with idiopathic pulmonary arterial hypertension.
Chest 2005;128(6 Suppl):630S-633S.
2005: Rolf Koehler; Horst Olschewski; Marius M Hoeper; Bart Janssen; Ekkehard Grünig
Serotonin transporter gene polymorphism in a cohort of German patients with idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension.
Chest 2005;128(6 Suppl):619S.
2005: Bart Janssen; Daniela Hohenadel; Paul T Brinkkoetter; Verena Peters; Nina Rind; Christine Fischer; Ivan Rychlik; Marie Cerna; Marianna Romzova; Emile de Heer; Hans Baelde; Stephan J L Bakker; Mahmoud Zirie; Eric Rondeau; Peter Mathieson; Moin A Saleem; Jochen Meyer; Hannes Köppel; Sibylle Sauerhoefer; Claus R Bartram; Peter Nawroth; Hans-Peter Hammes; Benito A Yard; Johannes Zschocke; Fokko J van der Woude
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.
Diabetes 2005;54(8):2320-7.
2005: Bart Janssen; Carolin Hartmann; V Scholz; Anna Jauch; Johannes Zschocke
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.
Neurogenetics 2005;6(1):29-35.
2004: Rolf Koehler; Ekkehard Grünig; Michael W Pauciulo; Marius M Hoeper; Horst Olschewski; Heinrike Wilkens; Michael Halank; Jörg Winkler; Ralf Ewert; Hinrich C Bremer; S Kreuscher; Bart Janssen; William C Nichols
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.
Journal of medical genetics 2004;41(12):e127.
2004: Carolin Hartmann; Anika L John; Rüdiger Klaes; Wera Hofmann; Rainer Bielen; Rolf Koehler; Bart Janssen; Claus R Bartram; Norbert Arnold; Johannes Zschocke
Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.
Human mutation 2004;24(6):534.
2004: Ekkehard Grünig; Rolf Koehler; Gabriel Miltenberger-Miltenyi; Rainer Zimmermann; Matthias Gorenflo; Derliz Mereles; Karlin Arnold; Barbara Naust; Heinrike Wilkens; Andreas Benz; Albrecht von Hippel; Herbert E Ulmer; Wolfgang Kübler; Hugo A Katus; Claus R Bartram; Dietmar Schranz; Bart Janssen
Primary pulmonary hypertension in children may have a different genetic background than in adults.
Pediatric research 2004;56(4):571-8.
2004: John H Newman; Richard C Trembath; Jane A Morse; Ekkehard Grunig; James E Loyd; Serge Adnot; Fabio Coccolo; Carlo Ventura; John A Phillips; James A Knowles; Bart Janssen; Oliver Eickelberg; Saadia Eddahibi; Phillipe Herve; William C Nichols; Gregory Elliott
Genetic basis of pulmonary arterial hypertension: current understanding and future directions.
Journal of the American College of Cardiology 2004;43(12 Suppl S):33S-39S.
2003: Bernhard Horsthemke; Christina Lich; Karin Buiting; Roland Achmann; Christa Aulehla-Scholz; Alessandra Baumer; Joachim Bürger; Bernd Dworniczak; Dieter Gläser; Elke Holinski-Feder; Bart Janssen; Stephanie Kleinle; Lothar Kochhan; Ernst Krasemann; Cornelia Kraus; Peter M Kroisel; Hansjörg Plendl; Sabine Purmann; Gabriele Sander; Heyko Skladny; Eva Spitzer; Barbara Thamm-Mücke; Raymonda Varon-Mateeva; Andreas Weinhaeusel; Helga Weirich
Problems in detecting mosaic DNA methylation in Angelman syndrome.
European journal of human genetics : EJHG 2003;11(12):913-5.
2003: Niels Halama; Annette Yard-Breedijk; Irfan Vardarli; Imren Akkoyun; Benito A Yard; Bart Janssen; Fokko J van der Woude
The Kruppel-like zinc-finger gene ZNF236 is alternatively spliced and excluded as susceptibility gene for diabetic nephropathy.
Genomics 2003;82(3):406-11.
2003: Matthias Rindermann; Ekkehard Grünig; Albrecht von Hippel; Rolf Koehler; Gabriel Miltenberger-Miltenyi; Derliz Mereles; Karlin Arnold; Michael W Pauciulo; William Nichols; Horst Olschewski; Marius M Hoeper; Jörg Winkler; Hugo A Katus; Wolfgang Kübler; Claus R Bartram; Bart Janssen
Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.
Journal of the American College of Cardiology 2003;41(12):2237-44.
2003: N Martin; K Zügge; R Brandt; D Friebel; Bart Janssen; Lothar B Zimmerhackl
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.
Clinical genetics 2003;63(5):427-30.
2002: Irfan Vardarli; Leslie J Baier; Robert L Hanson; Imren Akkoyun; Christine Fischer; Peter Rohmeiss; Ali Basci; Claus R Bartram; Fokko J van der Woude; Bart Janssen
Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23.
Kidney international 2002;62(6):2176-83.
2002: Nicola Langkau; Nicola Martin; Regine Brandt; Karin Zügge; Stefanie Quast; Gerd Wiegele; Anna Jauch; Marion Rehm; Andrea Kuhl; Monika Mack-Vetter; Lothar B Zimmerhackl; Bart Janssen
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
European journal of pediatrics 2002;161(7):393-402.
2002: Ekkehard Grünig; Derliz Mereles; Karlin Arnold; Andreas Benz; Horst Olschewski; Gabriel Miltenberger-Miltenyi; Mathias M Borst; Adel Abushi; W Seeger; Jörg Winkler; M M Höper; Claus R Bartram; Wolfgang Kübler; Bart Janssen
Primary pulmonary hypertension is predominantly a hereditary disease.
Chest 2002;121(3 Suppl):81S-82S.
2002: Bart Janssen; Matthias Rindermann; Ulrike Barth; Gabriel Miltenberger-Miltenyi; Derliz Mereles; Adel Abushi; Werner Seeger; Wolfgang Kübler; Claus R Bartram; Ekkehard Grünig
Linkage analysis in a large family with primary pulmonary hypertension: genetic heterogeneity and a second primary pulmonary hypertension locus on 2q31-32.
Chest 2002;121(3 Suppl):54S-56S.
2002: Beate Gleissner; Nicola Gökbuget; Claus R Bartram; Bart Janssen; Harald Rieder; Johannes W G Janssen; Christa Fonatsch; Axel Heyll; Dimitris Voliotis; Joachim Beck; Thomas Lipp; Gerd Munzert; Jürgen Maurer; Dieter Hoelzer; Eckhard Thiel
Leading prognostic relevance of the BCR-ABL translocation in adult acute B-lineage lymphoblastic leukemia: a prospective study of the German Multicenter Trial Group and confirmed polymerase chain reaction analysis.
Blood 2002;99(5):1536-43.
2001: J Finsterer; C Stöllberger; R Wegmann; C Jarius; Bart Janssen
Left ventricular hypertrabeculation in myotonic dystrophy type 1.
Herz 2001;26(4):287-90.
2000: Ekkehard Grünig; Bart Janssen; Derliz Mereles; U Barth; Mathias M Borst; I R Vogt; C Fischer; Horst Olschewski; Helmut Kuecherer; Wolfgang Kübler
Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene.
Circulation 2000;102(10):1145-50.
2000: Markus Sperandio; L Weber; Anna Jauch; Bart Janssen; Otto Mehls; Franz Schaefer
Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(6):909-12.
2000: Carsten Bergmann; Jan Senderek; B Hermanns; A Jauch; Bart Janssen; J Michael Schröder; D Karch
Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.
Muscle & nerve 2000;23(5):818-23.
2000: Juergen Kohlhase; Bart Janssen; K Weidenauer; K Harms; Iris Bartels
First confirmed case with paternal uniparental disomy of chromosome 16.
American journal of medical genetics 2000;91(3):190-1.
1999: AR Janecke; Nils U Bosshard; Ertan Mayatepek; A Schulze; Richard Gitzelmann; A Burchell; C R Bartram; Bart Janssen
Molecular diagnosis of type 1c glycogen storage disease.
Human genetics 1999;104(3):275-7.
1999: Matthias Spranger; Bart Janssen; D Rating; Stephanie Spranger
[Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion].
Der Nervenarzt 1999;70(2):131-5.
1998: K Buiting; B Dittrich; S Gross; C Lich; C Färber; T Buchholz; E Smith; A Reis; J Bürger; M M Nöthen; U Barth-Witte; Bart Janssen; D Abeliovich; I Lerer; A M van den Ouweland; D J Halley; C Schrander-Stumpel; H Smeets; P Meinecke; S Malcolm; A Gardner; M Lalande; R D Nicholls; K Friend; A Schulze; G Matthijs; H Kokkonen; P Hilbert; L Van Maldergem; G Glover; P Carbonell; P Willems; G Gillessen-Kaesbach; B Horsthemke
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
American journal of human genetics 1998;63(1):170-80.
1997: M van Slegtenhorst; R de Hoogt; C Hermans; M Nellist; Bart Janssen; S Verhoef; Dick Lindhout; A van den Ouweland; D Halley; J Young; M Burley; S Jeremiah; K Woodward; J Nahmias; M Fox; R Ekong; J Osborne; J Wolfe; S Povey; R G Snell; J P Cheadle; A C Jones; M Tachataki; D Ravine; J R Sampson; Mary Reeve; P Richardson; F Wilmer; C Munro; T L Hawkins; T Sepp; J B Ali; S Ward; A J Green; J R Yates; J Kwiatkowska; E P Henske; M P Short; J H Haines; S Jozwiak; D J Kwiatkowski
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science (New York, N.Y.) 1997;277(5327):805-8.
1997: Bart Janssen; D J J Halley; L Sandkuijl
Linkage analysis under locus heterogeneity: behaviour of the A-test in complex analyses.
Human heredity 1997;47(4):223-33.
1995: Marjon van Slegtenhorst; Bart Janssen; Mark Nellist; S Ramlakhan; C Hermans; A Hesseling; Ans M W van den Ouweland; D Kwiatkowski; Bert H J Eussen; J Sampson
Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.
European journal of human genetics : EJHG 1995;3(2):78-86.
1994: Peter Heutink; T Haitjema; G J Breedveld; Bart Janssen; Lodewijk A Sandkuijl; Carola J M Bontekoe; C J Westerman; Ben A Oostra
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Journal of medical genetics 1994;31(12):933-6.
1994: Bart Janssen; J Sampson; M van der Est; Wout Deelen; Senno Verhoef; I Daniels; A Hesseling; P Brook-Carter; Mark Nellist; Dick Lindhout
Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.
Human genetics 1994;94(4):437-40.
1993: Anne Hagemeijer; Arjan Buijs; E Smit; Bart Janssen; G J Creemers; D Van der Plas; Gerard C Grosveld
Translocation of BCR to chromosome 9: a new cytogenetic variant detected by FISH in two Ph-negative, BCR-positive patients with chronic myeloid leukemia.
Genes, chromosomes & cancer 1993;8(4):237-45.
1989: D Halley; Bart Janssen; anneke maat-kievit; P Fleury; G Grosveld; E D Lindhout
[Localization of the gene defect in tuberous sclerosis].
Tijdschrift voor kindergeneeskunde 1989;57(5):168-71.