Martin Zenker

Summary

Affiliation: Otto-von-Guericke University
Country: Germany

Publications

  1. doi request reprint Genetic and pathogenetic aspects of Noonan syndrome and related disorders
    Martin Zenker
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Germany
    Horm Res 72:57-63. 2009
  2. doi request reprint Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
    Martin Zenker
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
    Curr Opin Pediatr 23:443-51. 2011
  3. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
  4. doi request reprint Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome
    Christian T Thiel
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Schwabachanlage 10, D 91054 Erlangen, Germany
    Mol Genet Metab 94:356-62. 2008
  5. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
  6. ncbi request reprint A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
    Ulrike Huffmeier
    Institute of Human Genetics, University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2749-56. 2006
  7. ncbi request reprint Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:1069-73. 2006
  8. ncbi request reprint Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome
    Martin Zenker
    Institute of Human Genetics, University of Erlangen, 91054 Erlangen, Germany
    Am J Med Genet A 130:138-45. 2004
  9. ncbi request reprint Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Med Genet 50:43-7. 2007
  10. ncbi request reprint Genetic basis and pancreatic biology of Johanson-Blizzard syndrome
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Endocrinol Metab Clin North Am 35:243-53, vii-viii. 2006

Detail Information

Publications28

  1. doi request reprint Genetic and pathogenetic aspects of Noonan syndrome and related disorders
    Martin Zenker
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Germany
    Horm Res 72:57-63. 2009
    ..It discusses the relationship between a group of developmental disorders and oncogenes. Potential future treatment prospects are based on the possibility of inhibiting RAS-MAPK signaling by pharmaceuticals...
  2. doi request reprint Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
    Martin Zenker
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
    Curr Opin Pediatr 23:443-51. 2011
    ..This review summarizes the recent literature with a special focus on genotype-phenotype correlations...
  3. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
    ..However, data analysis is currently not standardised and little is known about its sensitivity and specificity...
  4. doi request reprint Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome
    Christian T Thiel
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Schwabachanlage 10, D 91054 Erlangen, Germany
    Mol Genet Metab 94:356-62. 2008
    ..Our data indicate that the quality of insulin binding activity is correlated with survival, not with the dysmorphic phenotype, and it is not always a valid parameter for predicting INSR mutations as proposed...
  5. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
    ..We therefore conclude that the phenotypic overlap of patients with MEF2C mutations and atypical Rett syndrome is due to the involvement of a common pathway...
  6. ncbi request reprint A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
    Ulrike Huffmeier
    Institute of Human Genetics, University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2749-56. 2006
    ....
  7. ncbi request reprint Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:1069-73. 2006
    ..We propose that X-inactivation is an important epigenetic modifier of the phenotype in females with the FLNA-related skeletal dysplasias...
  8. ncbi request reprint Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome
    Martin Zenker
    Institute of Human Genetics, University of Erlangen, 91054 Erlangen, Germany
    Am J Med Genet A 130:138-45. 2004
    ..We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway-Mowat syndrome and relations to other oculo-renal syndromes are discussed...
  9. ncbi request reprint Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Med Genet 50:43-7. 2007
    ....
  10. ncbi request reprint Genetic basis and pancreatic biology of Johanson-Blizzard syndrome
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Endocrinol Metab Clin North Am 35:243-53, vii-viii. 2006
    ..The UBR1 protein substrate, presumably impaired degradation of which causes JBS, is not yet known...
  11. ncbi request reprint A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2
    Verena Matejas
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Nephrol Dial Transplant 21:3283-6. 2006
    ..The condition is caused by mutations in the LAMB2 gene leading to complete loss of function of the gene product laminin beta2, an essential component of the glomerular and other basement membranes...
  12. ncbi request reprint Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
    ..If molecular karyotyping is not available, subtelomeric screening should be performed...
  13. pmc Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    J Med Genet 44:131-5. 2007
    ..Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC...
  14. doi request reprint No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Dysmorphol 17:181-5. 2008
  15. pmc Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
    Verena Matejas
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Germany
    Hum Mutat 31:992-1002. 2010
    ..Nevertheless, genotype alone does not appear to explain the full range of clinical variability, and therefore hitherto unidentified modifiers are likely to exist...
  16. doi request reprint Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome
    Andreas Dietrich
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054, Erlangen, Germany
    Pediatr Nephrol 23:1779-86. 2008
    ..We excluded LAMB2 as a candidate gene for GMS. Further studies are required, including linkage analysis in families with GMS to identify genes underlying this disease...
  17. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  18. pmc Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice
    Michael Kraft
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    J Clin Invest 121:3479-91. 2011
    ..This finding further elucidates the complex role of histone modifications in mammalian development and adds what we believe to be a new mechanism to the pathogenic phenotypes resulting from misregulation of the RAS signaling pathway...
  19. pmc NEK1 mutations cause short-rib polydactyly syndrome type majewski
    Christian Thiel
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 88:106-14. 2011
    ..Notably, these findings not only increase the broad spectrum of ciliar disorders, but suggest a correlation between the degree of defective microtubule or centriole elongation and organization and the severity of the resulting phenotype...
  20. doi request reprint Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    Sabine Endele
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Nat Genet 42:1021-6. 2010
    ..Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected...
  21. doi request reprint Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
    Sybille Lorenz
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg 20246, Germany
    Hum Mol Genet 22:1643-53. 2013
    ..We suggest that disrupted HRAS reagibility, as we demonstrate for the p.E63_D69dup mutation, is a previously unappreciated molecular pathomechanism underlying Costello syndrome...
  22. doi request reprint Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
    Jennifer Haensel
    Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany
    Am J Med Genet A 149:2236-40. 2009
    ..This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis...
  23. ncbi request reprint Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Nat Genet 37:1345-50. 2005
    ..Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway...
  24. doi request reprint Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
    Ina Schanze
    Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str 44, 39120 Magdeburg, Germany
    Eur J Med Genet 56:108-13. 2013
    ..Our findings indicate that haploinsufficiency of SOX5 is a cause of intellectual disability without any striking physical anomalies...
  25. doi request reprint Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier
    Martin Zenker
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Schwabachanlage 10, 91054, Erlangen, Germany
    J Mol Med (Berl) 87:849-57. 2009
    ..Elucidation of the molecular mechanisms involved will possibly open the way to new therapeutic approaches...
  26. ncbi request reprint Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
    Martin Zenker
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Germany
    Am J Med Genet A 132:185-8. 2005
    ..This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency...
  27. ncbi request reprint Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
    Martin Zenker
    Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany
    Hum Mol Genet 13:2625-32. 2004
    ..In addition, components of the molecular interface between GBM and podocyte foot processes come in the focus as potential candidates for isolated and syndromic CNS...
  28. ncbi request reprint Genotype-phenotype correlations in Noonan syndrome
    Martin Zenker
    Institute of Human Genetics, Departments of Pediatric Endocrinology and Pediatric Cardiology, University Children s Hospital, Erlangen, Germany
    J Pediatr 144:368-74. 2004
    ..Mutational analysis was performed by direct sequencing of the entire coding sequence of the PTPN11 gene...