AG - Prof. Dr. rer. nat. Michael Ludwig

M.Ludwig PassbildProf. Dr. rer. nat. Michael Ludwig
Institut für Klinische Chemie und Klinische Pharmakologie
LIFE & BRAIN Center, Dept. of Genomics
Universitätsklinikum Bonn
Biomedizinisches Zentrum
Sigmund-Freud-Str. 25
53127 Bonn


Tel: 0228-6885-418
Fax: 0228-6885-401

E-mail: mludwig@uni-bonn.de
Lebenslauf: m_ludwig.pdf

 

Forschungsthemen

1.) Humane Tubulopathien
Einen aktuellen Forschungsschwerpunkt stellen humane Tubulopathien dar. Hier stehen neben dem Pseudohypoaldosteronismus und den Gitelman-, Liddle- und Bartter-Syndromen die Krankheitsbilder des Morbus Dent 1 und Morbus Dent 2 im Vordergrund. Morbus Dent, eine seltene, X-chromosomal vererbte, proximale Tubulopathie, ist charakterisiert durch eine Proteinurie niedermolekularer Proteine, Nephrokalzinose/ Nephrolithiasis und terminalem Nierenversagen. Weitere Symptome sind Hyperkalziurie, Glukosurie, Aminoazidurie und Phosphaturie [1]. Verantwortlich für diesen Phänotyp sind bei ca. 55% der Patienten (= Morbus Dent 1) Defekte im CLCN5-Gen, welches für einen spannungsabhängigen Chloridkanal und Cl-/H+-Antiporter (ClC-5) codiert. ClC-5 wird hauptsächlich im proximalen Tubulus und α-interkalierenden Zellen im distalen Nephron exprimiert und findet sich in intrazellulären subapikalen Endosomen der Epithelzellen wo er an deren Azidifizierung und gerichtetem Transport beteiligt ist. Bislang konnten wir durch weltweite Kooperationen bei über 50 Dent-Patienten einen CLCN5-bedingten Phänotyp nachweisen. Auf der Suche nach weiteren genetischen Grundlagen gelang die Identifizierung von zwei weiteren CLCN5-mRNAs, die durch vier zusätzliche Exons reali-siert werden; diese weisen ein weniger breites Expressionsmuster auf, verändern aber, abgesehen von 70 zusätzlichen N-terminalen Aminosäuren, nicht das resultierende Protein [2]. Patienten mit Dent-ähnlichem Phänotyp zeigten bisher jedoch keine Mutation in diesen Exons. Bei der Untersuchung weiterer Kandidatengene konnten wir ausschließen, daß die ebenfalls X-chromosomal lokalisierten Gene CLCN4 [3], ein homologes zu CLCN5, sowie der (Na+,K+)/H+-Antiporter 7 (NHE7) nicht (frequent) in die Ätiologie des Morbus Dent involviert sind. 
In Zusammenarbeit mit Marburger Kollegen wurden 9 verschiedene mutierte Kanalproteine in Xenopus laevis Oozyten auf ihre Funktionalität hin untersucht [4]: Nahezu alle rekombinanten ClC-5-Mutanten (trunkiert oder mit Aminosäureaustausch) zeigten einen kompletten Funktionsausfall und gelangten auch nicht an die Membran. Hingegen zeigte die Variante R648X nicht nur eine Restaktivität sondern auch eine signifikant erhöhte Expression an der Zelloberfläche; der Verlust eines Internalisierungs-Motivs (P670Y671-Motiv) sollte hier zu einer reduzierten Ubiquitinierung und damit verlängerten Halbwertszeit an der Oberfläche führen.
Studien amerikanischer Kollegen zeigten, daß Mutationen im X-lokalisierten OCRL1-Gen ebenfalls einen Dent-Phänotyp (Morbus Dent 2) verursachen können [5]. OCRL1 codiert für eine Phosphatidylinositol 4,5-bisphosphat 5-Phosphatase und Defek-te in diesem Gen führen in den meisten Fällen zum Lowe-Syndrom. Diese schwerere Form eines Fanconi-Syndroms ist assoziiert mit kognitiven Behinderungen, Verhaltensauf-fälligkeiten und Katarakten. OCRL1-Mutationen fanden sich auch in 23% unserer Patienten mit Dent-Phänotyp [6]. Eine Hyperkalziurie wurde bei Dent-Patienten bislang immer als ein charakteristisches Leitsymptom angesehen. Unsere Analysen ergaben jedoch, dass nicht >95% der Patienten diesen Phänotyp zeigen, sondern ca. nur 2/3 [7]. Diese Beobachtung dürfte zu einer steigenden Zahl von weiteren, bislang nicht als Dent-Patienten klassifizierter Fälle führen. Noch nicht abgeschlossene Untersuchungen belegen signifikant, daß Serum CK-und LDH-Werte geeignete Parameter für die Differenzierung der beiden Morbus Dent-Formen darstellen.

Literatur
[1] Ludwig M, Utsch B, Monnens L (2006) Nephrol Dial Transplant 21: 2708-17
[2] Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B (2003) Kidney Blood Press Res 26: 176-84
[3] Ludwig M, Utsch B (2004) Am J Med Genet A 128A: 434-5
[4] Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S (2005) Hum Genet 117: 228-37
[5] Hoopes et al. (2005) Am J Hum Genet 76: 260-7
[6] Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W,  Ring T, Tasic V, van Wijk JAE, Ludwig M (2006) Am J Kidney Dis 48: 942-54
[7] Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A (2006) Pediatr Nephrol 21: 1241-50


2.) Ätiologie des Blasen-Ekstrophie-Epispadie-Komplexes
Ein zweiter aktueller Forschungsschwerpunkt liegt in der Aufklärung der Ätiologie des Blasen-Ekstrophie-Epispadie-Komplexes (BEEK). Der BEEK zählt zu den schwerwiegendsten angeborenen urogenitalen Fehlbildungen, und beschreibt ein über die Epispadie und die Ekstrophie der Harnblase bis hin zur kloakalen Ekstrophie reichendes Spektrum mit einer Prävalenz von etwa 1:10.000 in Europa [1, 2]. Unsere eigenen epidemiologischen Informationen von 151 Patienten, sowie eine weitere Studie, lassen auf eine multi-faktorielle Genese schließen [3]. Dabei weisen ein gegenüber der Allgemeinbevölkerung 400-fach (λs) erhöhtes Wiederholungs-risiko für Geschwister [4] als auch die durch unsere Arbeitsgruppe an mono- und dizygoten Zwillingen durchgeführten Vergleichsanalysen auf eine nicht unerhebliche genetische Komponente in der Genese des BEEK hin [2]. Im Rahmen verschiedener Vorarbeiten wurden mögliche Kandidatengene hinsichtlich ihres Einflusses auf die Entstehung des BEEK mittels Sequenzierung [5,6] bzw. durch die Anwendung von Assoziationsstudien und genomweiter Matrix-CGH Arrays untersucht [7,8]. Analysen weiterer, von murinen Knockout-Modellen abgeleiteter, Kandidatengene, wie das erst kürzlich für eine Isoform des p63–Gens beschriebene Knockout-Model ΔNp63 [9], befinden sich derzeit in Arbeit. In Zusammenarbeit mit Prof. Boyadjiev (Section of Genetics, Department of Pediatrics, University of California Davis) wurden DNA/RNA Analysen an genomischer DNA aus ekstrophischem Blasengewebe im Hinblick auf ΔNp63 begonnen. An drei sog. Multiplex-Familien wurden in Zusammenarbeit mit dem Max-Delbrück-Zentrum in Berlin genomweite Kopplungsanalysen durchgeführt [10]. Anhand dieser Untersuchungen konnten erstmalig beim Menschen genomische Regionen identifiziert werden, in denen mit hoher Wahrscheinlichkeit Gene liegen, die an der Entstehung des BEEK beteiligt sind. Hier haben wir begonnen, die in diesen Regionen kartierten Gene systematisch bei betroffenen Familienmitgliedern zu sequenzieren.

Literatur
[1] Ludwig M, Utsch B, Reutter H (2005) Urologe A 44:1037-1044
[2] Reutter H, Qi L, Gearhart JP, Boemers T, Ebert AK, Rösch W, Ludwig M, Boyadjev, SA (2007) Am J Med Genet A 143A: 2751-2756
[3] Boyadjiev et al. (2004) BJU Int 94:1337-1343
[4] Shapiro et al. (1984) J Urol 132:308-310
[5] Reutter H, Thauvin-Robinet C, Boemers TM, Rösch W, Ludwig M (2006) Scand J Urol Nephrol 40:221-224
[6] Krüger V, Khoshvaghti M, Reutter H, Vogt H, Boemers TM, Ludwig M (2008) Pediatr Surg Int 24: 893-897
[7] Reutter H, Becker T, Ludwig M, Schäfer N, Detlefsen B, Beaudoin S, Fisch M, Ebert AK, Rösch W, Nöthen MM, Boemers TM, Betz RC (2006) Am J Med Genet A 140A:2506-2509
[8] Reutter H,  Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel K, Weber RG (2007) BJU Int 100:646-650
[9] Cheng et al. (2006) Development 133: 4783-4792
[10] Ludwig M, Rüschendorf F, Hübner N, Saar K, Siekmann L, Boyadjiev SA, Reutter H (2009) Birth Defects Res A Clin Mol Teratol 85: 174-178

Ein weiteres Arbeitsfeld ist im Rahmen der Routineversorgung die Abklärung verschiedener seltener Krankheitsbilder wie die Spondyloepiphysäre Dysplasie - nephrotisches Syndrom (Schimke-Syndrom), Osteopetrose oder angeborene Störungen der Hämoglobin-Biosynthese (s. HbBonn, Clin Chem 2008, 54:594-6).

 

Mitarbeiter

Die Vorwahl für das Institut ist +49 (0) 228 - 287 -, dann wählen Sie bitte die Nummer des gewünschten Mitarbeiters.

Name Vorname Titel Funktion Durchwahl e-Mail
Uerdingen Pia   Technische Assistentin 16513  pia.uerdingen@ukb.uni-bonn.de

 

Publikationen

1. Ludwig, M., Beck, A., Wickert, L., Bolkenius, U., Tittel, B., Hinkel, K., and Bidlingmaier, F. Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. J Pediatr Endocrinol Metab 1998; 11: 657-664.

2. Ludwig, M., Bolkenius, U., Wickert, L., and Bidlingmaier, F. Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel. J Steroid Biochem Mol Biol 1998; 64: 227-230.

3. Ludwig, M., Bolkenius, U., Wickert, L., Marynen, P., and Bidlingmaier, F. Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel. Hum Genet 1998; 102: 576-581.

4. Wickert, L., Watzka, M., Bolkenius, U., Bidlingmaier, F., and Ludwig, M. Mineralocorticoid receptor splice variants in different human tissues. Eur J Endocrinol 1998; 138: 702-704.

5. Ludwig, M., and Klingmuller, D. Internist (Berl) 1999; 40: M312-M314.

6. Papassotiropoulos, A., Bagli, M., Feder, O., Jessen, F., Maier, W., Rao, M.L., Ludwig, M., Schwab, S.G., and Heun, R. Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease. Neurosci Lett 1999; 262: 171-174.

7. Rao, M.L., Lutjohann, D., Ludwig, M., and Kolsch, H. Induction of apoptosis and necrosis in human neuroblastoma cells by cholesterol oxides. Ann N Y Acad Sci 1999; 893: 379-381.

8. Wichers, M., Kohler, W., Brennemann, W., Boese, V., Sokolowski, P., Bidlingmaier, F., and Ludwig, M. X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. Hum Genet 1999; 105: 116-119.

9. Kolsch, H., Ludwig, M., Lutjohann, D., Prange, W., and Rao, M.L. 7alpha-Hydroperoxycholesterol causes CNS neuronal cell death. Neurochem Int 2000; 36: 507-512.

10. Papassotiropoulos, A., Bagli, M., Becker, K., Jessen, F., Maier, W., Rao, M.L., Ludwig, M., and Heun, R. No association between an intronic biallelic polymorphism of the FE65 gene and Alzheimer's disease. Int J Mol Med 2000; 6: 587-589.

11. Wickert, L., Selbig, J., Watzka, M., Stoffel-Wagner, B., Schramm, J., Bidlingmaier, F., and Ludwig, M. Differential mRNA expression of the two mineralocorticoid receptor splice variants within the human brain: structure analysis of their different DNA binding domains. J Neuroendocrinol 2000; 12: 867-873.

12. Kolsch, H., Ludwig, M., Lutjohann, D., and Rao, M.L. Neurotoxicity of 24-hydroxycholesterol, an important cholesterol elimination product of the brain, may be prevented by vitamin E and estradiol-17beta. J Neural Transm 2001; 108: 475-488.

13. Leuer, M., Oldenburg, J., Lavergne, J.M., Ludwig, M., Fregin, A., Eigel, A., Ljung, R., Goodeve, A., Peake, I., and Olek, K. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.

14. Lohmann, P.L., Rao, M.L., Ludwig, M., Griese, E.U., Zanger, U.M., Morike, K., Maier, W., and Bagli, M. Influence of CYP2D6 genotype and medication on the sparteine metabolic ratio of psychiatric patients. Eur J Clin Pharmacol 2001; 57: 289-295.

15. Simon, M., Koster, G., Ludwig, M., Mahlberg, R., Rho, S., Watzka, M., and Schramm, J. Alternative splicing of the p15 cdk inhibitor in glioblastoma multiforme. Acta Neuropathol 2001; 102: 167-174.

16. Utsch, B., Albers, N., Dame, C., Bartmann, P., Lentze, M.J., and Ludwig, M. Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the straight theta1-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10. Am J Med Genet 2001; 101: 286-287.

17. Kolsch, H., Lutjohann, D., Ludwig, M., Schulte, A., Ptok, U., Jessen, F., von Bergmann, K., Rao, M.L., Maier, W., and Heun, R. Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease. Mol Psychiatry 2002; 7: 899-902.

18. Ludwig, M., Johannes, S., Bergmann, M., Failing, K., Schiefer, H.G., and Weidner, W. Experimental Escherichia coli epididymitis in rats: a model to assess the outcome of antibiotic treatment. BJU Int 2002; 90: 933-938.

19. Reissinger, A., Ludwig, M., Utsch, B., Promse, A., Baulmann, J., Weisser, B., Vetter, H., Kramer, H.J., and Bokemeyer, D. Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 2002; 25: 354-362.

20. Steckelbroeck, S., Watzka, M., Lutjohann, D., Makiola, P., Nassen, A., Hans, V.H., Clusmann, H., Reissinger, A., Ludwig, M., Siekmann, L., and Klingmuller, D. Characterization of the dehydroepiandrosterone (DHEA) metabolism via oxysterol 7alpha-hydroxylase and 17-ketosteroid reductase activity in the human brain. J Neurochem 2002; 83: 713-726.

21. Utsch, B., Becker, K., Brock, D., Lentze, M.J., Bidlingmaier, F., and Ludwig, M. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? Hum Genet 2002; 110: 488-494.

22. Utsch, B., Hansmann, M., Albers, N., Lentze, M.J., Bidlingmaier, F., and Ludwig, M. Association of homozygous alpha-thalassaemia of the Southeast Asian type with hypospadias: still an intriguing enigma. Fetal Diagn Ther 2002; 17: 127-128.

23. Lohmann, P.L., Bagli, M., Krauss, H., Muller, D.J., Schulze, T.G., Fangerau, H., Ludwig, M., Barkow, K., Held, T., Heun, R., Maier, W., Rietschel, M., and Rao, M.L. CYP2D6 polymorphism and tardive dyskinesia in schizophrenic patients. Pharmacopsychiatry 2003; 36: 73-78.

24. Ludwig, M., Waldegger, S., Nuutinen, M., Bokenkamp, A., Reissinger, A., Steckelbroeck, S., and Utsch, B. Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. Kidney Blood Press Res 2003; 26: 176-184.

25. Riepe, F.G., Krone, N., Morlot, M., Ludwig, M., Sippell, W.G., and Partsch, C.J. Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab 2003; 88: 1683-1686.

26. Steckelbroeck, S., Watzka, M., Reissinger, A., Wegener-Toper, P., Bidlingmaier, F., Bliesener, N., Hans, V.H., Clusmann, H., Ludwig, M., Siekmann, L., and Klingmuller, D. Characterisation of estrogenic 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in the human brain. J Steroid Biochem Mol Biol 2003; 86: 79-92.

27. Stoffel-Wagner, B., Watzka, M., Steckelbroeck, S., Ludwig, M., Clusmann, H., Bidlingmaier, F., Casarosa, E., Luisi, S., Elger, C.E., and Beyenburg, S. Allopregnanolone serum levels and expression of 5 alpha-reductase and 3 alpha-hydroxysteroid dehydrogenase isoforms in hippocampal and temporal cortex of patients with epilepsy. Epilepsy Res 2003; 54: 11-19.

28. Utsch, B., Kaya, A., Ozburun, A., Lentze, M.J., Albers, N., and Ludwig, M. Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. Scand J Urol Nephrol 2003; 37: 498-501.

29. Holder, M., Bald, M., Leichter, H.E., and Ludwig, M. Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient. Pediatr Nephrol 2004; 19: 122; author reply 123.

30. Innis, J.W., Mortlock, D., Chen, Z., Ludwig, M., Williams, M.E., Williams, T.M., Doyle, C.D., Shao, Z., Glynn, M., Mikulic, D., Lehmann, K., Mundlos, S., and Utsch, B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet 2004; 13: 2841-2851.

31. Ludwig, M., Bidlingmaier, F., and Reissinger, A. Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. Int J Mol Med 2004; 14: 1101-1104.

32. Ludwig, M., and Utsch, B. Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. Am J Med Genet A 2004; 128A: 434-435.

33. Steckelbroeck, S., Nassen, A., Ugele, B., Ludwig, M., Watzka, M., Reissinger, A., Clusmann, H., Lutjohann, D., Siekmann, L., Klingmuller, D., and Hans, V.H. Steroid sulfatase (STS) expression in the human temporal lobe: enzyme activity, mRNA expression and immunohistochemistry study. J Neurochem 2004; 89: 403-417.

34. Utsch, B., Albers, N., and Ludwig, M. Genetic and molecular aspects of hypospadias. Eur J Pediatr Surg 2004; 14: 297-302.

35. Besbas, N., Ozaltin, F., Jeck, N., Seyberth, H., and Ludwig, M. CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. Nephrol Dial Transplant 2005; 20: 1476-1479.

36. Bokenkamp, A., deJong, M., van Wijk, J.A., Block, D., van Hagen, J.M., and Ludwig, M. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatr Nephrol 2005; 20: 1724-1728.

37. de Jong, M., van Wijk, J.A., van der Hulst, J.P., Ludwig, M., and Bokenkamp, A. Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome. Ned Tijdschr Geneeskd 2005; 149: 2178-2182.

38. Freundlich, M., and Ludwig, M. A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. Pediatr Nephrol 2005; 20: 512-515.

39. Ludwig, M., Doroszewicz, J., Seyberth, H.W., Bokenkamp, A., Balluch, B., Nuutinen, M., Utsch, B., and Waldegger, S. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Hum Genet 2005; 117: 228-237.

40. Ludwig, M., Utsch, B., and Reutter, H. Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC). Urologe A 2005; 44: 1037-1038, 1040-1034.

41. Ludwig, M., Utsch, B., Balluch, B., Frund, S., Kuwertz-Broking, E., and Bokenkamp, A. Hypercalciuria in patients with CLCN5 mutations. Pediatr Nephrol 2006; 21: 1241-1250.

42. Ludwig, M., Utsch, B., and Monnens, L.A. Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. Nephrol Dial Transplant 2006; 21: 2708-2717.

43. Reutter, H., Becker, T., Ludwig, M., Schafer, N., Detlefsen, B., Beaudoin, S., Fisch, M., Ebert, A.K., Rosch, W., Nothen, M.M., Boemers, T.M., and Betz, R.C. Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. Am J Med Genet A 2006; 140: 2506-2509.

44. Reutter, H., Betz, R.C., Ludwig, M., and Boemers, T.M. MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? Eur J Pediatr 2006; 165: 566-568.

45. Reutter, H., Thauvin-Robinet, C., Boemers, T.M., Rosch, W.H., and Ludwig, M. Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients. Scand J Urol Nephrol 2006; 40: 221-224.

46. Simon, M., Franke, D., Ludwig, M., Aliashkevich, A.F., Koster, G., Oldenburg, J., Bostrom, A., Ziegler, A., and Schramm, J. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg 2006; 104: 945-949.

47. Simon, M., Ludwig, M., Fimmers, R., Mahlberg, R., Muller-Erkwoh, A., Koster, G., and Schramm, J. Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme. Neurosurgery 2006; 59: 1078-1085; discussion 1085.

48. Utsch, B., Bokenkamp, A., Benz, M.R., Besbas, N., Dotsch, J., Franke, I., Frund, S., Gok, F., Hoppe, B., Karle, S., Kuwertz-Broking, E., Laube, G., Neb, M., Nuutinen, M., Ozaltin, F., Rascher, W., Ring, T., Tasic, V., van Wijk, J.A., and Ludwig, M. Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 2006; 48: 942 e941-914.

49. Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J.A., Ludwig, M., and Trobs, R.B. Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Am J Med Genet A 2006; 140: 2251-2253.

50. Reutter, H., Hoischen, A., Ludwig, M., Stein, R., Radlwimmer, B., Engels, H., Wolffenbuttel, K.P., and Weber, R.G. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. BJU Int 2007; 100: 646-650.

51. Reutter, H., Qi, L., Gearhart, J.P., Boemers, T., Ebert, A.K., Rosch, W., Ludwig, M., and Boyadjiev, S.A. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A 2007; 143A: 2751-2756.

52. Utsch, B., McCabe, C.D., Galbraith, K., Gonzalez, R., Born, M., Dotsch, J., Ludwig, M., Reutter, H., and Innis, J.W. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. Am J Med Genet A 2007; 143A: 3161-3168.

53. Bockenhauer, D., Bokenkamp, A., van't Hoff, W., Levtchenko, E., Kist-van Holthe, J.E., Tasic, V., and Ludwig, M. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 2008; 3: 1430-1436.

54. Gambhir, L., Holler, T., Muller, M., Schott, G., Vogt, H., Detlefsen, B., Ebert, A.K., Fisch, M., Beaudoin, S., Stein, R., Boyadjiev, S.A., Gearhart, J.P., Rosch, W., Utsch, B., Boemers, T.M., Reutter, H., and Ludwig, M. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol 2008; 179: 1539-1543.

55. Gambhir, L., Reutter, H., and Ludwig, M. Successful assisted reproduction in adult males with bladder extrophy-epispadias complex. Eur J Obstet Gynecol Reprod Biol 2008; 139: 259-260.

56. Kruger, V., Khoshvaghti, M., Reutter, H., Vogt, H., Boemers, T.M., and Ludwig, M. Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. Pediatr Surg Int 2008; 24: 893-897.

57. Zur, B., Hornung, A., Breuer, J., Doll, U., Bernhardt, C., Ludwig, M., and Stoffel-Wagner, B. A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry. Clin Chem 2008; 54: 594-596.

58. Pavicevic S, Bogdanovic R, Ludwig M, Samardzic M (2008) Dent disease. Srp Arh Celok Lek 136 (Suppl. 4): 312-315.

59. Besbas, N., Draaken, M., Ludwig, M., Deren, O., Orhan, D., Bilginer, Y., and Ozaltin, F. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. Eur J Pediatr 2009; 168: 1449-1454.

60. Bokenkamp, A., Bockenhauer, D., Cheong, H.I., Hoppe, B., Tasic, V., Unwin, R., and Ludwig, M. Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 2009; 155: 94-99.

61. Ludwig, M., Ching, B., Reutter, H., and Boyadjiev, S.A. Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol 2009; 85: 509-522.

62. Ludwig, M., Ruschendorf, F., Saar, K., Hubner, N., Siekmann, L., Boyadjiev, S.A., and Reutter, H. Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol 2009; 85: 174-178.

63. Reutter, H., Bokenkamp, A., Ebert, A.K., Rosch, W., Boemers, T.M., Nothen, M.M., and Ludwig, M. Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature. Eur J Pediatr 2009; 168: 881-883.

64. Roth, C.L., Ludwig, M., Woelfle, J., Fan, Z.C., Brumm, H., Biebermann, H., and Tao, Y.X. A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. Endocrine 2009; 36: 52-59.

65. Sethi, S.K., Ludwig, M., Kabra, M., Hari, P., and Bagga, A. Vitamin A responsive night blindness in Dent's disease. Pediatr Nephrol 2009; 24: 1765-1770.

66. Utsch, B., Brun-Heath, I., Staatz, G., Gravou-Apostolatou, C., Karle, S., Jacobs, U., Ludwig, M., Zenker, M., Dorr, H.G., Rascher, W., Mornet, E., and Dotsch, J. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? Exp Clin Endocrinol Diabetes 2009; 117: 28-33.

67. Ebert, A.K., Reutter, H., Ludwig, M., and Rösch, W., The Exstrophy-Epispadias-Complex. Orphanet J Rare Dis 2010; 4: 23 (1-17) 68. Draaken, M., Reutter, H., Schramm, C., Bartels, E., Boemers, T.M., Ebert, A.K., Rösch, W., Schröder, A., Stein, R., Moebus, S., Stienen, D., Hoffmann, P., Nöthen, M.M., and Ludwig, M. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur J Med Genet, 2010; 53: 55-60.

68. Draaken, M., Proske, J., Schramm, C., Wittler, L., Bartels, E., Nöthen, M.M., Reutter, H., and Ludwig, M. Embryonic expression of the cysteine rich protein 61 gene (CYR61), a candidate for the development of human epispadias. Birth Defects Res A Clin Mol Teratol 2010; 88: 546-50.

69. Reutter, H., Rüschendorf, F., Mattheisen, M., Draaken, M., Bartels, E., Hübner, N., Hoffmann, P., Payabvash, S., Saar, K., Nöthen, M.M., Kajbafzadeh, A.M., and Ludwig, M. Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.33-41 from a consanguineous Iranian family. Birth Defects Res A Clin Mol Teratol 2010; 88: 757-761.

70. Steckelbroeck, S., Lütjohann, D., Bauman, D.R., Ludwig, M., Friedl, A., Hans, V.H., Penning, T.M., and Klingmüller, D. Non-stereo-selective cytosolic brain tissue 3-ketosteroid reductase is refractory to inhibition by AKR1C inhibitors. Biochim Biophys Acta Mol Cell Biol L 2010; 1801: 1221-1231.

71. Bogdanović, R., Draaken, M., Toromanović, A., Đjorđjević, M., Stajić, N., and Ludwig, M. A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 2010; 25: 2363-2368.

72. Ching, B., Wittler, L., Proske, J., Yagnik, G., Qi, L., Draaken, M., Reutter, H., Gearhart, J.P., Ludwig, M., and Boyadjiev, S.A. p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. Int J Mol Med 2010; 25: 861-867.

73. Schramm, C., Draaken, M., Bartels, E., Boemers, T.M., Aretz, S., Brockschmidt, F.F., Nöthen, M.M., Ludwig, M., and Reutter, H. De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet 2011; 54: 9-13.

74. Schramm, C., Draaken, M., Tewes, G., Bartels, E., Schmiedeke, E., Märzheuser, S., Grasshoff-Derr, S., Hosie, S., Holland-Cunz, S., Priebe, L., Kreiß-Nachtsheim, M., Hoffmann, P., Aretz, S., Nöthen, M.M., Ludwig, M., and Reutter, H. Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping and review of the literature. Eur J Pediatr 2011; 170: 741-746.

75. Bökenkamp, A., and Ludwig, M. Disorders of the renal proximal tubule. Nephron Physiol 2011; 118: p1-p6.

76. Draaken, M., Giesen, C.A., Kesselheim, A.L., Jabs, R., Aretz, S., Kugaudo, M., Chrzanowska, K.H., Krajewska-Walasek, and M., Ludwig, M. Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet 2011; 129: 513-519.

77. Schramm, C., Draaken, M., Bartels, E., Boemers, T.M., Schmiedeke, E., Grasshoff-Derr, S., Märzheuser, S., Hosie, S., Holland-Cunz, S., Baudisch, F., Priebe, L., Hoffmann, P., Zink, A., Engels, H., Brockschmidt, F.F., Aretz, S., Nöthen, M.M., Ludwig, M., Reutter, H. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A 2011; 445-449.

78. Tasic, V., Lozanovski, V.J., Korneti, P., Ristoska-Bojkovska, N., Sabolic-Avramovska, V., Gucev, Z., and Ludwig, M. Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol 2011; 557-562.

79. Mühleisen, T.W., Basmanav, F.B., Forstner, A.J., Mattheisen, M., Priebe, L., Herms, S., Breuer, R., Moebus, S., Nenadic, I., Sauer, H., Mössner, R., Maier, W., Rujescu, D., Ludwig, M., Rietschel, M., Nöthen, M.M., and Cichon, S. Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophr Res 2011; 127: 35-40.

80. Ludwig, M., Sethi, S.K. Novel techniques and newer markers for the evaluation of "Proximal tubular dysfunction“. Int Urol Nephrol 2011; 43: 1107-1115.

81. Qi, L., Chen, K., Hur, D.J., Yagnik, G., Lakshmanan, Y., Kotch, L.E., Ashrafi, G.H., Martinez-Murillo, F., Kowalski, J., Naidenov, C., Wittler, L., Gearhart, J.P., Draaken, M., Reutter, H., Ludwig, M., Boyadjiev, S.A. Genome-wide expression profiling of urinary bladder implicates cytoskeletal and desmosomal dysregulation in bladder exstrophy-epispadias complex. Int J Mol Med 2011; 27: 755-765.

82. Zur, B., Hildesheim, A., Ludwig, M., and Stoffel-Wagner, B. Spinal ischemia caused by a new combination of Hb-Q-Iran in association with alpha-thalassemia? Clin Lab 2011; 57: 221-224.

83. Reutter, H., Boyadjiev, S.A., Gambhir, L., Ebert, A.K., Rösch, W., Stein, R., Schröder, A., Boemers, T.M., Bartels, E., Vogt, H., Utsch, B., Müller, M., Detlefsen, B., Zwink, N., Rogenhofer, S., Gobet, R., Beckers, G.M.A., Bökenkamp, A., Kajbafzadeh, A.M., Jaureguizar, E., Draaken, M., Lakshmanan, Y., Gearhart, J.P., Ludwig, M., Nöthen, M.M., Jenetzky, E. Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and non-genetic contributing factors in 441 families from North America and Europe. J Pediatr 2011; 159: 825-831.e1.

84. Bartels, E., Draaken, M., Kazmierczak, B., Spranger, S., Schramm, C., Baudisch, F., Nöthen, M.M., Schmiedeke, E., Ludwig, M., Reutter, H. De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. Cytogenet Genome Res 2011; 134: 243-248.

85. Refke, M., Pasternack, S.M., Fiebig, B., Wenzel, S., Ishorst, N., Ludwig, M., Nöthen, M.M.,  Seyger, M.M., Hamel, B.C., Betz, R.C. Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. Brit J Dermatol 2011; 165: 1127-1132.

86. Samardzic, M., Pavicevic, S., Ludwig, M., Bogdanovic, R. Effect of growth hormone replacement therapy in a boy with Dent’s disease: a case report. J Med Case Reports 2011; 5: 400.

87. Vrljičak, K., Batinić, D., Milošević, D., Nižić-Stanč, L., Ludwig, M. A boy with Dent-2 disease. Coll Antropol 2011; 35: 925-928.

88. Weber, S., Thiele, H., Mir, S., Toliat, M.R., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmüller, J., Frommolt, P., Stuart, H.M., Ranjzad, P., Hanley, N.A., Jennings, R., Newman, W.G., Wilcox, D.T., Schlingmann, K.P., Beetz, R., Hoyer, P.F., Konrad, M., Schaefer, F., Nürnberg, P., Woolf, A.S. Muscarinic acetylcholine receptor M3 (CHRM3) mutation causes urinary bladder disease and a prune-belly like syndrome. Am J Hum Genet 2011; 89: 668-674.

89. Zur, B., Ludwig, M., Stoffel-Wagner, B. Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin. Biochem Med (Zagreb) 2011; 21: 321-325.

90. Levtchenko, E., Bökenkamp, A., Monnens, L., Ludwig, M. Dent’s disease. In: Diseases of renal parenchyme, Ed. Sahay M, InTech - Open Access Publisher, Croatia 2012; pp17-32.

91. Bökenhauer, D., Böckenkamp, A., Nuutinen, M., Unwin, R., van’t Hoff, W., Sirimanna, T., Vrljicak, K., Ludwig, M. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet 2012; 1: 15-23.

92. Bogdanović, R., Kuburović, V., Stajić, N., Mughal, S.S., Hilger, A., Ninić, S., Ludwig, M. Liddle syndrome in a Serbian family and a literature review of underlying mutations. Eur J Pediatr 2012; 171: 471-478.

93. Zur, B., Mayer-Hubner, B., Ludwig, M., Stoffel-Wagner, B. A 14 year old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress. Clin Chem 2012; 58: 332-335.

94. Schulz, A.C., Bartels, E., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheissen, M., Draaken, M., Ludwig, M., Bagci, S., Müller, A., Gembruch, U., Geipel, A., Berg, C., Heydweiller, A., Bachour, H., Schumacher, J., Bartmann, P., Nöthen, M.M., Reutter, H. Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. Birth Defects Res A Clin Mol Teratol 2012; 94: 182-186.

95. Hilger, H., Schramm, C., Draaken, M., Mughal, S.S., Dworschak, G., Bartels, E., Hoffmann, P., Nöthen, M.M., Reutter, H., Ludwig, M. Familial occurrence of the VATER/ VACTERL association. Pediatr Surg Int 2012; 28: 725-729.

96. Spier, I., Horpaopan, S., Vogt, S., Uhlhaas, S., Morak, M., Stienen, D., Draaken, M., Ludwig, M., Holinski-Feder, E., Nöthen, M.M., Hoffmann, P., Aretz, S. Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis. Hum Mutat 2012; 33: 1045-1050.

97. Bartels, E., Jenetzky, E., Solomon, B.D., Ludwig, M., Schmiedeke, E., Grasshoff-Derr, S., Schmidt, D., Märzheuser, S., Hosie, S., Weih, S., Holland-Cunz, S., Palta, M., Leonhardt, J., Schäfer, M., Kujath, C., Rißmann, A., Nöthen, M.M., Reutter, H., Zwink, N. Inheritance of the VATER/VACTERL association. Pediatr Surg Int 2012; 28: 681-685.

98. Mahmoudi, H., Tug, E., Parlak, A.H., Atasoy, H.I., Ludwig, M., Polat, M., Pasternack, S.M., Betz, R.C. Identification of an Alu-mediated 12.2 kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. Exp Dermatol 2012; 21: 469-471.

99. Ulrich-Merzenich, G., Kelber, O., Koptina, A., Freischmidt, A., Heilmann, J., Müller, J., Zeitler, H., Seidel, M.F., Ludwig, M., Heinrich, E.U., Winterhoff, H. Novel neurological and immunological targets for salicylate-based phytopharmaceuticals and for the anti-depressant imipramine. Phytomedicine 2012; 19: 930-939.

100. Wittler, L., Hilger, A., Proske, J., Pennimpede, T., Draaken, M., Ebert, A.K., Rösch, W., Nöthen, M.M., Reutter, H., and Ludwig, M. Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for  human epispadias. Gene 2012; 506: 392-395.

101. Zur, B., Bagci, S., Ludwig, M., Stoffel-Wagner, B. Oxygen saturation in pulse oximetry in hemoglobin anomalies. Klin Padiatr 2012; 224: 259-265.

102. Bartels, E., Schulz, A.C., Mora, N.W., Pineda-Alvarez, D.E,, Wijers, C.H.W., Marcelis, C.M., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheissen, M., Draaken, M., Hoffmann, P., Hilger, A., Dworschak, G., Baudisch, F., Ludwig, M., Bagci, S., Müller, A., Gembruch, U., Geipel, A., Berg, C., Bartmann, P., Nöthen, M.M., van Rooij, I.A.L.M., Solomon, B.D., Reutter, H. VATER/VACTERL association: identification of 7 new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol 2012; 21: 191-195.

103. Draaken, M., Prins, W., Zeidler, C., Hilger, A., Mughal, S.S., Latus, J., Boemers, T.M., Schmidt, D., Schmiedeke, E., Spychalski, N., Bartels, E., Nöthen, M.M., Reutter, H., Ludwig,M. Involvement of the WNT- and FGF-signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2, and the T gene. Int J Mol Med 2012; 30: 1459-1464.

104. Zur, B., Stoffel-Wagner, B., Ludwig, M. Hemoglobin Andrew-Minneapolis– Hemolytic erythrocytosis and severe iron overload in toxic liver cirrhosis. Ann Lab Med 2012; 32: 450-451.

105. Ludwig, M., Reutter, H., Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations. J Pediatr Genet 2012; 1: 209-216.

106. Pasternack, S.M., Hoyer, C., Böckenhauer, D., Refke, M., Tasic, V., Draaken, M., Conrad, C., Betz, R.C., Born, M., Reutter, H., Ludwig, M. Lowe syndrome without congenital cataracts and an OCRL termination mutation: Dropping the ‘O’ in OCRL. Klin Padiatr 2013; 225: 29-33.

107. Draaken, M., Mughal, S.S., Pennimpede, T., Wolter, S., Wittler, L., Ebert, A.K., Rösch, W., Stein, R., Bartels, E., Schmidt, D., Boemers, T.M., Schmiedeke, E., Hoffmann, P., Moebus, S., Herrmann, B., Nöthen, M.M., Reutter, H., Ludwig, M. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Res A Clin Mol Teratol 2013; 97: 133-139.

108. Reutter, H., Ludwig, M. VATER/VACTERL association: evidence for the role of genetic factors. Mol Syndromol 2013; 4: 16-19.

109. Zur, B., Ludwig, M., Stoffel-Wagner, B. Case control studies of novel hemoglobin anomalies as differential diagnosis in sleep apnea syndrome. Sleep Breath 2013; 17: 557-563.

110. Hilger, A., Schramm, C., Pennimpede, T., Wittler, L., Dworschak, G., Bartels, E., Engels, H., Zink, A., Degenhardt, F., Müller, A.M., Schmiedeke, E., Grasshoff-Derr, S., Märzheuser, S., Hosie, S., Holland-Cunz, S., Wijers, C.H.W., Mercelis, C.L.M., van Rooij, I.A.L.M., Hildebrandt, F., Herrmann, B.G., Nöthen, M.M., Ludwig, M., Reutter, H., Draaken, M. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet 2013; 21 (12): 1377-1382.

111. Baudisch, F., Draaken, M., Bartels, E., Schmiedeke, E., Bagci, S., Bartmann, P., Nöthen, M.M., Ludwig, M., Reutter, H. CNV analysis in monozygotic twin pairs discordant for urorectal malformations. Twin Res Hum Genet 2013; 16 (4): 802-807.

112. Dworschak, G.C., Draaken, M., Hilger, A., Born, M., Reutter, H., Ludwig, M. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant  multicentric carpotarsal osteolysis syndrome. Int J Mol Med 2013; 32: 174-178.

113. Recker, F., Reutter, H., Ludwig, M. Lowe syndrome: a comprehensive review of known and novel aspects. J Pediatr Genet 2013; 2: 53-68.

114. Dworschak, G.C., Draaken, M., Marcelis, C.M., de Blaauw, I., Pfundt, R., van Rooij, I.A.L.M., Bartels, E., Hilger, A., Jenetzky, E., Schmiedeke, E., Grasshoff-Derr, S., Schmidt, D., Märzheuser, S., Hosie, S., Weih, S., Holland-Cunz, S., Palta, M., Leonhardt, J., Schäfer, M., Kujath, C., Rißmann, A., Nöthen, M.M., Zwink. N., Ludwig, M., Reutter, H. De novo deletions of chromosome 13q in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2  in patients with anorectal malformations. Am J Med Genet 2013; 161 (12): 3035-3041.

115. Qi, L., Wang, M., Yagnick, G., Gearhart, J.P., Ebert, A.K., Rösch, W., Mattheisen, M., Ludwig, M., Draaken, M., Reutter, H., Boyadjiev, S.A. Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Terator 2013; 97 (12): 759-763.

116. TopaloÄŸlu, R., Ludwig, M., Çelebi-Tayfur, A. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. Turk J Pediatr 2013; 55: 331-334.

117. Zur, B., Stoffel-Wagner, B., Ludwig, M. Novel hemoglobin UKB demonstrates the importance of using different methods of detection. Clin Chim Acta 2014; 431C: 58-59.

119. Ludwig, M., Levtchenko, E., Bökenkamp, A. Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). Eur J Hum Genet 2014; 22 (11).

120. Reutter, H., Gurung, N., Ludwig, M. Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. Am J Med Genet A 2014; 164 (6): 1611-3.

121. Draaken, M., Baudisch, F., Timmermann, B., Kuhl, H., Kerick, M., Proske, J., Wittler, L., Pennimpede, T., Ebert, A.K., Rösch, W., Stein, R., Bartels, E., von Lowtzow, C., Boemers, T.M., Herms, S., Gearhart, J.P., Lakshmanan, Y., Kockum, C.C., Holmdahl, G., Läckgren, G., Nordenskjöld, A., Boyadjiev, S.A., Herrmann, B.G., Nöthen, M.M., Ludwig, M., Reutter, H. Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Res A Clin Mol Teratol. 2014 Jun; 100 (6): 512-7. 

122. Wijers, C.H., de Blaauw, I., Zwink, N., Draaken, M., van der Zanden, L.F., Brunner, H.G.,Brooks, A.S., Hofstra, R.M., Sloots, C.E., Broens, P.M., Wijnen, M.H., Ludwig, M., Jenetzky, E., Reutter, H., Marcelis, C.L., Roeleveld, N., van Rooij, I.A., No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol. 2014; 100 (6): 483-92.

123. Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F.F., Ebert, A.K., Bartels, E., Rösch, W., Boemers, T.M., Hirsch, K., Schmiedeke, E., Meesters, C., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjöld, A., Barker, G., Kockum, C.C., Zwink, N., Holmdahl, G., Läckgren, G., Jenetzky, E., Feitz, W.F., Marcelis, C., Wijers, C.H., Van Rooij, I.A., Gearhart, J.P., Herrmann, B.G., Ludwig, M., Boyadjiev, S.A., Nöthen, M.M., Mattheisen, M. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. Hum Mol Genet. 2014; 23 (20): 5536-44.

124. Saisawat, P., Kohl, S., Hilger A.C., Hwang, D.Y., Gee, H.Y., Dworschak, G.C., Tasic, V., Pennimpede, T., Natarajan, S., Sperry, E., Matassa, D.S., Stajić, N., Bogdanovic, R., de Blaauw, I., Marcelis, C.L.M., Wijers, C.H.W., Bartels, E., Schmiedeke, E., Schmidt, D., Märzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Ludwig, M., Nöthen, M.M., Draaken, M., Brosens, E., Heij, H., Tibboel, D., Herrmann, B.G., Solomon, B., de Klein, A., van Rooij, I.A.L.M., Esposito, F., Reutter, H.M., Hildebrandt, F. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 2014; 85 (6): 1310-7.

125. Zeidler, C., Woelfle, J., Draaken, M., Mughal, S.S., Große, G., Hilger, A.C., Dworschak, G.C., Boemers, T.M., Jenetzky, E., Zwink, N., Lacher, M., Schmidt, D., Schmiedeke, E., Grasshoff-Derr, S., Märzheuser, S., Holland-Cunz, S., Schäfer, M., Bartels, E., Keppler, K., Palta, M., Leonhardt, J., Kujath, C., Rißmann, A., Nöthen, M.M., Reutter, H., Ludwig, M. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth Defects Res A Clin Mol Teratol. 2014; 100 (10): 750-9. 

126. Bökenkamp, A., Levtchenko, E., Recker, F., Ludwig, M. Clinical utility gene card for: Lowe syndrome. Eur J Hum Genet. 2014. [Epub ahead of print] 

127. Zaniew, M., Moczulska, A., Szezepanska, M., Mizerska-wasiak, M., Rogowska-kalisz, A., Gadomskaprokop, K., Wasilewska, A., Zawadziki, J., Pawlaczyk, K., Kiryluk, K., Vargas-Poussou, R., Bichet, D., Beck, B., Ludwig, M., Konrad, M., Sikora, P. Genetic Registry Of Inherited Tubulopathies In Poland. PEDIATRIC NEPHROLOGY 2014; (29): 1672-1672.

128. Dworschak, G.C., Draaken, M., Hilger, A.C., Schramm, C., Bartels, E., Schmiedeke, E., Grasshoff-Derr, S., Märzheuser, S., Holland-Cunz, S., Lacher, M., Jenetzky, E., Zwink, N., Schmidt, D., Nöthen, M.M., Ludwig, M., Reutter, H. Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol. 2014. [Epub ahead of print]

129. Recker, F., Zaniew, M., Böckenhauer, D., Miglietti, N., Bökenkamp, A., Moczulska, A., Rogowska-Kalisz, A., Laube, G., Said-Conti, V., Kasap-Demir, B., Niemirska, A., Litwin, M., SiteÅ„, G., Chrzanowska, K.H., Krajewska-Walasek, M., Sethi, S.K., Tasic, V., Anglani, F., Addis, M., Wasilewska, A., SzczepaÅ„ska, M., Pawlaczyk, K., Sikora, P., Ludwig, M. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol. 2014. [Epub ahead of print]

130. Szczepanska, M., Zaniew, M., Recker, F., Mizerska-Wasiak, M., Zaluska-Lesniewska, I., Kilis-Pstrusinska, K., Adamczyk, P., Zawadzki, J., Pawlaczyk, K., Ludwig, M., Sikora, P. Dent Disease In Children - Data From Polish Registry Of Inherited Tubulopathies. PEDIATRIC NEPHROLOGY 2014; (29): 1833-1833.

131. SobieszczaÅ„ska-Droździel, A., Sikora, P., Majewski, M., Ludwig, M., Matera, A., ZajÄ…czkowska, M. Dent’s disease type 1 in a boy with severe hyperopia and mental dysfunction: a case report. Prog Health Sci. 2014; 4: 273-276.

132. Basmanav, F.B., Forstner, A.J., Fier, H., Herms, S., Meier, S., Degenhardt, F., Hoffmann, P., Barth, S., Fricker, N., Strohmaier, J., et al. (2015). Investigation of the role of TCF4 rare sequence variants in schizophrenia. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics 168, 354-362.

133. Bokenkamp, A., Levtchenko, E., Recker, F., and Ludwig, M. (2015). Clinical utility gene card for: Lowe syndrome. European Journal of Human Genetics 23.

134. Draaken, M., Knapp, M., Pennimpede, T., Schmidt, J.M., Ebert, A.-K., Roesch, W., Stein, R., Utsch, B., Hirsch, K., Boemers, T.M., et al. (2015). Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy. Plos Genetics 11.

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136. Gurung, N., Grosse, G., Draaken, M., Hilger, A.C., Nauman, N., Mueller, A., Gembruch, U., Merz, W.M., Reutter, H., and Ludwig, M. (2015). Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. Molecular Medicine Reports 12, 1579-1583.

137. Hilger, A.C., Halbritter, J., Pennimpede, T., van der Ven, A., Sarma, G., Braun, D.A., Porath, J.D., Kohl, S., Hwang, D.-Y., Dworschak, G.C., et al. (2015). Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Human Mutation 36, 1150-1154.

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139. Krutzke, S.K., Engels, H., Hofmann, A., Schumann, M.M., Cremer, K., Zink, A.M., Hilger, A., Ludwig, M., Gembruch, U., Reutter, H., and Merz, W.M. (2016). Array-Based Molecular Karyotyping in Fetal Brain Malformations: Identification of Novel Candidate Genes and Chromosomal Regions. Birth Defects Research Part a-Clinical and Molecular Teratology 106, 16-26.

140. Recker, F., Zaniew, M., Boeckenhauer, D., Miglietti, N., Bokenkamp, A., Moczulska, A., Rogowska-Kalisz, A., Laube, G., Said-Conti, V., Kasap-Demir, B., et al. (2015). Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatric Nephrology 30, 931-943.

141. Reutter, H., Keppler-Noreuil, K., Keegan, C.E., Thiele, H., Yamada, G., and Ludwig, M. (2015). Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Current Genomics 17, 4-13.

142. Szczepanska, M., Zaniew, M., Recker, F., Mizerska-Wasiak, M., Zaluska-Lesniewska, I., Kilis-Pstrusinska, K., Adamczyk, P., Zawadzki, J., Pawlaczyk, K., Ludwig, M., and Sikora, P. (2015). Dent disease in children: diagnostic and therapeutic considerations. Clinical Nephrology 84, 222-230.

143. Weber, S., Buescher, A.K., Hagmann, H., Liebau, M.C., Heberle, C., Ludwig, M., Rath, S., Alberer, M., Beissert, A., Zenker, M., et al. (2016). Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing. Pediatric Nephrology 31, 73-81.

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Stand: 18. März 2016