Research

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Valerie Schumacher, PhD

Valerie Schumacher, PhD
Department:
Urology Research
Hospital Title:
Research Associate
Academic Title:
Assistant Professor of Pediatrics, Harvard Medical School
Research Focus Area:
Glomerular diseaseKidney failure
Contact:
617-919-2086
Contact Via Email
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Publications

Publications powered by Harvard Catalyst Profiles
  1. Nettersheim D, Jostes S, Fabry M, Honecker F, Schumacher V, Kirfel J, Kristiansen G, Schorle H. A signaling cascade including ARID1A, GADD45B and DUSP1 induces apoptosis and affects the cell cycle of germ cell cancers after romidepsin treatment. Oncotarget. 2016 Aug 27.
  2. Kann M, Bae E, Lenz MO, Li L, Trannguyen B, Schumacher VA, Taglienti ME, Bordeianou L, Hartwig S, Rinschen MM, Schermer B, Benzing T, Fan CM, Kreidberg JA. WT1 targets Gas1 to maintain nephron progenitor cells by modulating FGF signals. Development. 2015 Apr 1; 142(7):1254-66.
  3. De Spiegelaere W, Dern-Wieloch J, Weigel R, Schumacher V, Schorle H, Nettersheim D, Bergmann M, Brehm R, Kliesch S, Vandekerckhove L, Fink C. Reference gene validation for RT-qPCR, a note on different available software packages. PLoS One. 2015; 10(3):e0122515.
  4. Fiorina P, Vergani A, Bassi R, Niewczas MA, Altintas MM, Pezzolesi MG, D'Addio F, Chin M, Tezza S, Ben Nasr M, Mattinzoli D, Ikehata M, Corradi D, Schumacher V, Buvall L, Yu CC, Chang JM, La Rosa S, Finzi G, Solini A, Vincenti F, Rastaldi MP, Reiser J, Krolewski AS, Mundel PH, Sayegh MH. Role of podocyte B7-1 in diabetic nephropathy. J Am Soc Nephrol. 2014 Jul; 25(7):1415-29.
  5. Schumacher VA, Schlötzer-Schrehardt U, Karumanchi SA, Shi X, Zaia J, Jeruschke S, Zhang D, Pavenstädt H, Pavenstaedt H, Drenckhan A, Amann K, Ng C, Hartwig S, Ng KH, Ho J, Kreidberg JA, Taglienti M, Royer-Pokora B, Ai X. WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier. J Am Soc Nephrol. 2011 Jul; 22(7):1286-96.
  6. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793.
  7. Langsdorf A, Schumacher V, Shi X, Tran T, Zaia J, Jain S, Taglienti M, Kreidberg JA, Fine A, Ai X. Expression regulation and function of heparan sulfate 6-O-endosulfatases in the spermatogonial stem cell niche. Glycobiology. 2011 Feb; 21(2):152-61.
  8. Schumacher V, Gueler B, Looijenga LH, Becker JU, Amann K, Engers R, Dotsch J, Stoop H, Schulz W, Royer-Pokora B. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. Mol Reprod Dev. 2008 Sep; 75(9):1484-94.
  9. Royer-Pokora B, Weirich A, Schumacher V, Uschkereit C, Beier M, Leuschner I, Graf N, Autschbach F, Schneider D, von Harrach M. Clinical relevance of mutations in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: results of long-term surveillance of 71 patients from International Society of Pediatric Oncology Study 9/Society for Pediatric Oncology. Cancer. 2008 Sep 1; 113(5):1080-9.
  10. Schumacher VA, Jeruschke S, Eitner F, Becker JU, Pitschke G, Ince Y, Miner JH, Leuschner I, Engers R, Everding AS, Bulla M, Royer-Pokora B. Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. J Am Soc Nephrol. 2007 Mar; 18(3):719-29.
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  12. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006 Sep; 70(6):1008-12.
  13. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS. STK11 status and intussusception risk in Peutz-Jeghers syndrome. J Med Genet. 2006 Aug; 43(8):e41.
  14. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15; 12(10):3209-15.
  15. Schumacher V, Thumfart J, Drechsler M, Essayie M, Royer-Pokora B, Querfeld U, Müller D. A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. Nephrol Dial Transplant. 2006 Feb; 21(2):518-21.
  16. Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Möslein G, Royer-Pokora B. STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet. 2005 May; 42(5):428-35.
  17. Trappe RU, Riess H, Lippek F, Plotkin M, Schumacher V, Royer-Pokora B, Hildebrandt B, Zuber J, Mapara MY, Oertel S, Dörken B. Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms' tumor and a novel alteration in intron 1 of the WT1 gene. J Pediatr Hematol Oncol. 2004 Dec; 26(12):820-3.
  18. Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet. 2004 Nov 1; 13(21):2625-32.
  19. Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V. Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. Am J Med Genet A. 2004 Jun 15; 127A(3):249-57.
  20. Kaltenis P, Schumacher V, Jankauskiene A, Laurinavicius A, Royer-Pokora B. Slow progressive FSGS associated with an F392L WT1 mutation. Pediatr Nephrol. 2004 Mar; 19(3):353-6.
  21. Carpenter B, Hill KJ, Charalambous M, Wagner KJ, Lahiri D, James DI, Andersen JS, Schumacher V, Royer-Pokora B, Mann M, Ward A, Roberts SG. BASP1 is a transcriptional cosuppressor for the Wilms' tumor suppressor protein WT1. Mol Cell Biol. 2004 Jan; 24(2):537-49.
  22. Schumacher V, Schuhen S, Sonner S, Weirich A, Leuschner I, Harms D, Licht J, Roberts S, Royer-Pokora B. Two molecular subgroups of Wilms' tumors with or without WT1 mutations. Clin Cancer Res. 2003 Jun; 9(6):2005-14.
  23. Köhler B, Schumacher V, l'Allemand D, Royer-Pokora B, Grüters A. Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy. J Pediatr. 2001 Mar; 138(3):421-4.
  24. Richard DJ, Schumacher V, Royer-Pokora B, Roberts SG. Par4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1. Genes Dev. 2001 Feb 1; 15(3):328-39.
  25. Rapley EA, Barfoot R, Bonaïti-Pellié C, Chompret A, Foulkes W, Perusinghe N, Reeve A, Royer-Pokora B, Schumacher V, Shelling A, Skeen J, de Tourreil S, Weirich A, Pritchard-Jones K, Stratton MR, Rahman N. Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. Br J Cancer. 2000 Jul; 83(2):177-83.
  26. Vogel T, Schumacher V, Saleh A, Trojan J, Möslein G. Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature. Deutsche Peutz-Jeghers-Studiengruppe. Int J Colorectal Dis. 2000 Apr; 15(2):118-23.
  27. Köhler B, Schumacher V, Schulte-Overberg U, Biewald W, Lennert T, l'Allemand D, Royer-Pokora B, Grüters A. Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Pediatr Res. 1999 Feb; 45(2):187-90.
  28. Drechsler M, Schumacher V, Friedrich S, Wildhardt G, Giesler S, Schroth A, Bodem J, Royer-Pokora B. Genomic structure, alternative transcripts and chromosome location of the human LIM domain binding protein 1 gene LDB1. Cytogenet Cell Genet. 1999; 87(1-2):119-24.
  29. Dong J, Chang-Claude J, Wu Y, Schumacher V, Debatin I, Tonin P, Royer-Pokora B. A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. Hum Genet. 1998 Aug; 103(2):154-61.
  30. Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Bröking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int. 1998 Jun; 53(6):1594-600.
  31. Schumacher V, Schneider S, Figge A, Wildhardt G, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B. Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci U S A. 1997 Apr 15; 94(8):3972-7.
  32. Amin EM, Oltean S, Hua J, Gammons MV, Hamdollah-Zadeh M, Welsh GI, Cheung MK, Ni L, Kase S, Rennel ES, Symonds KE, Nowak DG, Royer-Pokora B, Saleem MA, Hagiwara M, Schumacher VA, Harper SJ, Hinton DR, Bates DO, Ladomery MR. WT1 mutants reveal SRPK1 to be a downstream angiogenesis target by altering VEGF splicing. Cancer Cell. 2011 Dec 13; 20(6):768-80.
  33. Wolf MT, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G. Ten novel mutations found in Aniridia. Hum Mutat. 1998; 12(5):304-13.
  34. Chiluiza D, Krishna S, Schumacher VA, Schlöndorff J. Gain-of-function mutations in transient receptor potential C6 (TRPC6) activate extracellular signal-regulated kinases 1/2 (ERK1/2). J Biol Chem. 2013 Jun 21; 288(25):18407-20.
  35. Haas ME, Levenson AE, Sun X, Liao WH, Rutkowski JM, de Ferranti SD, Schumacher VA, Scherer PE, Salant DJ, Biddinger SB. The Role of Proprotein Convertase Subtilisin/Kexin Type 9 in Nephrotic Syndrome-Associated Hypercholesterolemia. Circulation. 2016 Jul 05; 134(1):61-72.
  36. Hartmann K, Bennien J, Wapelhorst B, Bakhaus K, Schumacher V, Kliesch S, Weidner W, Bergmann M, Geyer J, Fietz D. Current insights into the sulfatase pathway in human testis and cultured Sertoli cells. Histochem Cell Biol. 2016 Dec; 146(6):737-748.
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