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Items: 1 to 50 of 53

1.

Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

Golas MM, Auber B, Ripperger T, Pabst B, Schmidt G, Morlot M, Diebold U, Steinemann D, Schlegelberger B, Morlot S.

Am J Med Genet A. 2019 Jul;179(7):1383-1389. doi: 10.1002/ajmg.a.61166. Epub 2019 May 6.

PMID:
31062505
2.

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.

Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G.

Clin Genet. 2019 Jul;96(1):85-90. doi: 10.1111/cge.13557. Epub 2019 May 16.

PMID:
31044419
3.

Mechanistic Characterization of Long Residence Time Inhibitors of Diacylglycerol Acyltransferase 2 (DGAT2).

Pabst B, Futatsugi K, Li Q, Ahn K.

Biochemistry. 2018 Dec 26;57(51):6997-7010. doi: 10.1021/acs.biochem.8b01096. Epub 2018 Dec 7.

PMID:
30422629
4.

A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.

Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.

Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.

PMID:
30191368
5.

Potent GH20 N-Acetyl-β-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols.

Weber P, Nasseri SA, Pabst BM, Torvisco A, Müller P, Paschke E, Tschernutter M, Windischhofer W, Withers SG, Wrodnigg TM, Stütz AE.

Molecules. 2018 Mar 20;23(3). pii: E708. doi: 10.3390/molecules23030708.

6.

A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.

Schalli M, Weber P, Tysoe C, Pabst BM, Thonhofer M, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2017 Aug 1;27(15):3431-3435. doi: 10.1016/j.bmcl.2017.05.086. Epub 2017 May 30.

PMID:
28600215
7.

N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.

Schalli M, Tysoe C, Fischer R, Pabst BM, Thonhofer M, Paschke E, Rappitsch T, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 18;443-444:15-22. doi: 10.1016/j.carres.2017.03.009. Epub 2017 Mar 11.

PMID:
28319682
8.

A Morita-Baylis-Hillman based route to C-5a-chain-extended 4-epi-isofagomine type glycosidase inhibitors.

Lebl R, Thonhofer M, Tysoe C, Pabst BM, Schalli M, Weber P, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 10;442:31-40. doi: 10.1016/j.carres.2017.03.003. Epub 2017 Mar 6.

PMID:
28288345
9.

Gel-Entrapped Staphylococcus aureus Bacteria as Models of Biofilm Infection Exhibit Growth in Dense Aggregates, Oxygen Limitation, Antibiotic Tolerance, and Heterogeneous Gene Expression.

Pabst B, Pitts B, Lauchnor E, Stewart PS.

Antimicrob Agents Chemother. 2016 Sep 23;60(10):6294-301. doi: 10.1128/AAC.01336-16. Print 2016 Oct.

10.

Discovery of a Selective Covalent Inhibitor of Lysophospholipase-like 1 (LYPLAL1) as a Tool to Evaluate the Role of this Serine Hydrolase in Metabolism.

Ahn K, Boehm M, Brown MF, Calloway J, Che Y, Chen J, Fennell KF, Geoghegan KF, Gilbert AM, Gutierrez JA, Kalgutkar AS, Lanba A, Limberakis C, Magee TV, O'Doherty I, Oliver R, Pabst B, Pandit J, Parris K, Pfefferkorn JA, Rolph TP, Patel R, Schuff B, Shanmugasundaram V, Starr JT, Varghese AH, Vera NB, Vernochet C, Yan J.

ACS Chem Biol. 2016 Sep 16;11(9):2529-40. doi: 10.1021/acschembio.6b00266. Epub 2016 Jul 19.

PMID:
27391855
11.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Vogt J, Wernstedt A, Ripperger T, Pabst B, Zschocke J, Kratz C, Wimmer K.

Eur J Hum Genet. 2016 Nov;24(11):1598-1604. doi: 10.1038/ejhg.2016.75. Epub 2016 Jun 22.

12.

Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.

Thonhofer M, Weber P, Gonzalez Santana A, Tysoe C, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2016 Jun 24;429:71-80. doi: 10.1016/j.carres.2016.03.020. Epub 2016 Mar 31.

PMID:
27063389
13.

Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.

Thonhofer M, Weber P, Santana AG, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2016 Mar 1;26(5):1438-42. doi: 10.1016/j.bmcl.2016.01.059. Epub 2016 Jan 22.

PMID:
26838810
14.

Diffusive transport through a model host-biofilm system.

Aristotelous AC, Klapper I, Grabovsky Y, Pabst B, Pitts B, Stewart PS.

Phys Rev E Stat Nonlin Soft Matter Phys. 2015 Aug;92(2):022703. Epub 2015 Aug 10.

15.

Discovery and Optimization of Imidazopyridine-Based Inhibitors of Diacylglycerol Acyltransferase 2 (DGAT2).

Futatsugi K, Kung DW, Orr ST, Cabral S, Hepworth D, Aspnes G, Bader S, Bian J, Boehm M, Carpino PA, Coffey SB, Dowling MS, Herr M, Jiao W, Lavergne SY, Li Q, Clark RW, Erion DM, Kou K, Lee K, Pabst BA, Perez SM, Purkal J, Jorgensen CC, Goosen TC, Gosset JR, Niosi M, Pettersen JC, Pfefferkorn JA, Ahn K, Goodwin B.

J Med Chem. 2015 Sep 24;58(18):7173-85. doi: 10.1021/acs.jmedchem.5b01006.

PMID:
26349027
16.

Discovery of Selective Small Molecule Inhibitors of Monoacylglycerol Acyltransferase 3.

Huard K, Londregan AT, Tesz G, Bahnck KB, Magee TV, Hepworth D, Polivkova J, Coffey SB, Pabst BA, Gosset JR, Nigam A, Kou K, Sun H, Lee K, Herr M, Boehm M, Carpino PA, Goodwin B, Perreault C, Li Q, Jorgensen CC, Tkalcevic GT, Subashi TA, Ahn K.

J Med Chem. 2015 Sep 24;58(18):7164-72. doi: 10.1021/acs.jmedchem.5b01008. Epub 2015 Sep 8.

PMID:
26258602
17.

New insights into the lifestyle of Allosaurus (Dinosauria: Theropoda) based on another specimen with multiple pathologies.

Foth C, Evers SW, Pabst B, Mateus O, Flisch A, Patthey M, Rauhut OW.

PeerJ. 2015 May 12;3:e940. doi: 10.7717/peerj.940. eCollection 2015.

18.

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Koehler U, Pabst B, Pober B, Kozel B.

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26. No abstract available.

19.

General theory for integrated analysis of growth, gene, and protein expression in biofilms.

Zhang T, Pabst B, Klapper I, Stewart PS.

PLoS One. 2013 Dec 23;8(12):e83626. doi: 10.1371/journal.pone.0083626. eCollection 2013.

20.

Mechanistic characterization of a 2-thioxanthine myeloperoxidase inhibitor and selectivity assessment utilizing click chemistry--activity-based protein profiling.

Ward J, Spath SN, Pabst B, Carpino PA, Ruggeri RB, Xing G, Speers AE, Cravatt BF, Ahn K.

Biochemistry. 2013 Dec 23;52(51):9187-201. doi: 10.1021/bi401354d. Epub 2013 Dec 9.

PMID:
24320749
21.

Expansion of recipient-derived antiviral T cells may influence donor chimerism after allogeneic stem cell transplantation.

Borchers S, Weissinger EM, Pabst B, Ganzenmueller T, Dammann E, Luther S, Diedrich H, Ganser A, Stadler M.

Transpl Infect Dis. 2013 Dec;15(6):627-33. doi: 10.1111/tid.12101. Epub 2013 Jun 19.

PMID:
23782397
22.

Sequential anti-cytomegalovirus response monitoring may allow prediction of cytomegalovirus reactivation after allogeneic stem cell transplantation.

Borchers S, Bremm M, Lehrnbecher T, Dammann E, Pabst B, Wölk B, Esser R, Yildiz M, Eder M, Stadler M, Bader P, Martin H, Jarisch A, Schneider G, Klingebiel T, Ganser A, Weissinger EM, Koehl U.

PLoS One. 2012;7(12):e50248. doi: 10.1371/journal.pone.0050248. Epub 2012 Dec 13. Erratum in: PLoS One. 2013;8(4). doi: 10.1371/annotation/43e9b84c-fbe3-4b39-88c8-1cde34b0afea.

23.

[Tetrasomy 18p syndrome and hearing loss. An unusual case].

Schwemmle C, Arslan-Kirchner M, Pabst B, Ptok M.

HNO. 2012 Oct;60(10):901-5. doi: 10.1007/s00106-011-2459-9. German.

PMID:
22733277
24.

Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation.

Ehmer U, Kalthoff S, Fakundiny B, Pabst B, Freiberg N, Naumann R, Manns MP, Strassburg CP.

Hepatology. 2012 Jun;55(6):1912-21. doi: 10.1002/hep.25561. Epub 2012 Apr 23.

PMID:
22213127
25.

Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.

Fantur KM, Wrodnigg TM, Stütz AE, Pabst BM, Paschke E.

J Inherit Metab Dis. 2012 May;35(3):495-503. doi: 10.1007/s10545-011-9409-2. Epub 2011 Oct 28.

PMID:
22033734
26.

Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia.

Ripperger T, Tauscher M, Praulich I, Pabst B, Teigler-Schlegel A, Yeoh A, Göhring G, Schlegelberger B, Flotho C, Niemeyer CM, Steinemann D.

Br J Haematol. 2011 Oct;155(2):209-17. doi: 10.1111/j.1365-2141.2011.08817.x. Epub 2011 Aug 18. Review.

PMID:
21848520
27.

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B.

Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30.

PMID:
20624498
28.

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.

Fantur K, Hofer D, Schitter G, Steiner AJ, Pabst BM, Wrodnigg TM, Stütz AE, Paschke E.

Mol Genet Metab. 2010 Jul;100(3):262-8. doi: 10.1016/j.ymgme.2010.03.019. Epub 2010 Mar 28.

PMID:
20409738
29.

SRT1720, SRT2183, SRT1460, and resveratrol are not direct activators of SIRT1.

Pacholec M, Bleasdale JE, Chrunyk B, Cunningham D, Flynn D, Garofalo RS, Griffith D, Griffor M, Loulakis P, Pabst B, Qiu X, Stockman B, Thanabal V, Varghese A, Ward J, Withka J, Ahn K.

J Biol Chem. 2010 Mar 12;285(11):8340-51. doi: 10.1074/jbc.M109.088682. Epub 2010 Jan 8.

30.

Correlation of donor leukocyte chimerism with pulmonary allograft survival after immunosuppressive drug withdrawal in a porcine model.

Kruse B, Thissen S, Warnecke G, Avsar M, Gottlieb J, Hohlfeld JM, Karstens JH, Kaever V, Länger F, Pabst B, Ungefroren H, Haverich A, Strüber M.

Transplantation. 2009 May 27;87(10):1468-77. doi: 10.1097/TP.0b013e3181a3c4cb.

PMID:
19461483
31.

Structure-guided inhibitor design for human FAAH by interspecies active site conversion.

Mileni M, Johnson DS, Wang Z, Everdeen DS, Liimatta M, Pabst B, Bhattacharya K, Nugent RA, Kamtekar S, Cravatt BF, Ahn K, Stevens RC.

Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):12820-4. doi: 10.1073/pnas.0806121105. Epub 2008 Aug 27.

32.

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.

Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J.

J Mol Cell Cardiol. 2007 Feb;42(2):352-6. Epub 2006 Dec 26.

PMID:
17189636
33.

[Spectrum of neuropsychiatric features associated with velocardiofacial syndrome (Deletion 22q11.2)].

Sieberer M, Runte I, Wilkening A, Pabst B, Ziegenbein M, Haltenhof H.

Fortschr Neurol Psychiatr. 2006 May;74(5):263-74. Review. German.

PMID:
16758538
34.

Infantile postural asymmetry and osteopathic treatment: a randomized therapeutic trial.

Philippi H, Faldum A, Schleupen A, Pabst B, Jung T, Bergmann H, Bieber I, Kaemmerer C, Dijs P, Reitter B.

Dev Med Child Neurol. 2006 Jan;48(1):5-9; discussion 4.

35.

Basal ganglia calcification and psychosis in 22q11.2 deletion syndrome.

Sieberer M, Haltenhof H, Haubitz B, Pabst B, Miller K, Garlipp P.

Eur Psychiatry. 2005 Dec;20(8):567-9. Epub 2005 Jun 20.

PMID:
15967641
36.

Evaluation of online extraction/mass spectrometry for in vivo cassette analysis.

Sadagopan N, Pabst B, Cohen L.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jun 5;820(1):59-67. Epub 2005 Apr 18.

PMID:
15866493
38.

Idiopathic infantile asymmetry, proposal of a measurement scale.

Philippi H, Faldum A, Bergmann H, Jung T, Pabst B, Schleupen A.

Early Hum Dev. 2004 Nov;80(2):79-90.

PMID:
15500989
39.

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature.

Pabst B, Arslan-Kirchner M, Schmidtke J, Miller K.

Cytogenet Genome Res. 2003;103(1-2):3-7. Review.

PMID:
15004455
40.

Randomized controlled evaluation of the effects of cognitive-behavioral stress management on cortisol responses to acute stress in healthy subjects.

Gaab J, Blättler N, Menzi T, Pabst B, Stoyer S, Ehlert U.

Psychoneuroendocrinology. 2003 Aug;28(6):767-79.

PMID:
12812863
41.

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach.

Shouman N, Pabst B, Arslan-Kirchner M, Eckardt A, Schönweiler R, Ptok M, Mehraein Y, Schmidtke J, Miller K.

Int J Oral Maxillofac Surg. 2003 Apr;32(2):198-200.

PMID:
12729782
42.

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, Arslan-Kirchner M.

Hum Genet. 2003 Apr;112(4):343-7. Epub 2003 Feb 6.

PMID:
12574939
43.

Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1.

Pabst B, Glaubitz R, Schalk T, Schneider U, Schulze W, Miller K.

Ann Genet. 2002 Jan-Mar;45(1):5-8.

PMID:
11934382
44.

Role of CtBP in transcriptional repression by the Drosophila giant protein.

Strunk B, Struffi P, Wright K, Pabst B, Thomas J, Qin L, Arnosti DN.

Dev Biol. 2001 Nov 15;239(2):229-40.

45.

Analysis of K-ras mutations in pancreatic tissue after fine needle aspirates.

Pabst B, Arps S, Binmoeller K, Thul R, Walsemann G, Fenner C, Klapdor R.

Anticancer Res. 1999 Jul-Aug;19(4A):2481-3.

PMID:
10470178
46.

Transcriptional repression by the Drosophila giant protein: cis element positioning provides an alternative means of interpreting an effector gradient.

Hewitt GF, Strunk BS, Margulies C, Priputin T, Wang XD, Amey R, Pabst BA, Kosman D, Reinitz J, Arnosti DN.

Development. 1999 Mar;126(6):1201-10.

47.

Loss of alleles in brain tumours: distribution and correlations with clinical course.

Diedrich U, Lucius J, Bittermann HJ, Schlösser M, Eckert B, Behnke J, Pabst B.

J Neurol. 1995 Oct;242(10):707-11.

PMID:
8568535
48.

Distribution of epidermal growth factor receptor gene amplification in brain tumours and correlation to prognosis.

Diedrich U, Lucius J, Baron E, Behnke J, Pabst B, Zoll B.

J Neurol. 1995 Oct;242(10):683-8.

PMID:
8568531
49.

Nondisjunction by failures in the molecular control of oocyte maturation.

Hansmann I, Pabst B.

Ann Anat. 1992 Dec;174(6):485-90. No abstract available.

PMID:
1476248
50.

Haematological and biochemical findings in cattle with dilatation and torsion of the caecum.

Braun U, Hermann M, Pabst B.

Vet Rec. 1989 Oct 7;125(15):396-8.

PMID:
2815522

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