Publikationen 2016 der Forschungsverbünde für … · Publikationen 2016 der Forschungsverbünde für seltene Erkrankungen ... Liehr T, Mackay DJ, ... William Motley, Mary M. Reilly,

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Publikationen 2016 der Forschungsverbünde für seltene Erkrankungen

28. Dezember 2016 (Geramy)

Aggregation of Full Length Immunoglobulin Light Chains from AL Amyloidosis Patients Is Remodeled by

Epigallocatechin-3-gallate

J Biol Chem. 2016 Dec 28. pii: jbc.M116.750323

Andrich K, Hegenbart U, Kimmich C, Kedia N, Bergen HR 3rd, Schönland S, Wanker EE, Bieschke J.

19. Dezember 2016 (AID-Net)

In neonates S100A8/S100A9 alarmins prevent the expansion of a specific inflammatory monocyte population

promoting septic shock

FASEB J. 2016 Dec 19. pii: fj.201601083R. [Epub ahead of print]

Heinemann AS, Pirr S, Fehlhaber B, Mellinger L, Burgmann J, Busse M, Ginzel M, Friesenhagen J, von Köckritz-

Blickwede M, Ulas T, von Kaisenberg CS, Roth J, Vogl T, Viemann D.

14. Dezember 2016 (PID-Net)

Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy

Mol Ther. 2016 Dec 14;24(4):678-84. doi: 10.1038/mt.2016.38. Review.

Papapetrou EP, Schambach A.

8. Dezember 2016 (AID-Net)

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis

J Invest Dermatol. 2016 Dec 8. pii: S0022-202X(16)32496-4

Plaza-Sirvent, C, Schuster M, Neumann Y, Pils M, Schulze-Osthoff K, Schmitz I

1. Dezember 2016 (Imprinting)

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Epigenetics. 2016 Dec 2:0. [Epub ahead of print] Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D,

Eggermann T, Beygo J, Buiting K, Tümer Z.

30. November 2016 (CHROMATIN-Net)

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Eur J Hum Genet. 2016 Nov 30. doi: 10.1038/ejhg.2016.165. [Epub ahead of print]

Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I,

Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ,

Wieczorek D.

28. November 2016 (STOP-FSGS)

Investigations of Glucocorticoid Action in GN

J Am Soc Nephrol. 2016 Nov 28. [Epub ahead of print]

Christoph Kuppe, Claudia van Roeyen, Katja Leuchtle, Nazanin Kabgani,Michael Vogt, Marc Van Zandvoort, Bart

Smeets, Jürgen Floege, Hermann-Josef Gröne and Marcus J. Moeller

28. November 2016 (CMT-net)

Towards a functional pathology of hereditary neuropathies

Acta Neuropathol. 2016 Nov 28. [Epub ahead of print] Review.

Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J.


MDM2 prevents spontaneous tubular epithelial cell death and acute kidney injury

Cell Death Dis. 2016 Nov 24

Thomasova D, Ebrahim M, Fleckinger K, Li M, Molnar J, Popper B, Liapis H, Kotb AM, Siegerist F, Endlich N,

Anders HJ.

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23. November 2016 (CMT-net)

Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer

Sci Rep. 2016 Nov 23;6:37393.

Bernhart SH, Kretzmer H, Holdt LM, Jühling F, Ammerpohl O, Bergmann AK, Northoff BH, Doose G, Siebert R,

Stadler PF, Hoffmann S.

15. November 2016 (MND-net)

The concept and diagnostic criteria of primary lateral sclerosis

Acta Neurol Scand. 2016 Nov 15. doi: 10.1111/ane.12713. [Epub ahead of print]

Wais V, Rosenbohm A, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Nagel G, Kassubek J, Weydt

P, Brettschneider J, Weishaupt JH, Ludolph AC, Dorst J.


A Novel Assay to Assess the Effect of Pharmaceutical Compounds on the Differentiation of Podocytes

Br J Pharmacol. 2016 Nov 14. doi: 10.1111/bph.13667. [Epub ahead of print]

Kindt F, Hammer E, Kemnitz S, Blumenthal A, Klemm P, Schlüter R, Quaggin SE, van den Brandt J, Fuellen G,

Völker U, Endlich K, Endlich N.

5. November 2016 (MND-net)

Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in

the course of amyotrophic lateral sclerosis: Data from the German MND-net

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Nov 5:1-8. [Epub ahead of print] Steinacker P, Huss A,

Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC,

Otto M.

1. November 2016 (AID-Net)

The danger from within: alarmins in arthritis

Nat Rev Rheumatol. 2016 Nov;12(11):669-68

Nefla M, Holzinger D, Berenbaum F, Jacques C.


Loss of Kynurenine 3-Mono-oxygenase Causes Proteinuria

J Am Soc Nephrol. 2016 Nov;27(11):3271-3277

Korstanje R, Deutsch K, Bolanos-Palmieri P, Hanke N, Schroder P, Staggs L, Bräsen JH, Roberts IS, Sheehan S,

Savage H, Haller H, Schiffer M.


CD103+ Kidney Dendritic Cells Protect against Crescentic GN by Maintaining IL-10-Producing Regulatory T

Cells

J Am Soc Nephrol. 2016 Nov;27(11):3368-3382

Evers BD, Engel DR, Böhner AM, Tittel AP, Krause TA, Heuser C, Garbi N, Kastenmüller W, Mack M, Tiegs G,

Panzer U, Boor P, Ludwig-Portugall I, Kurts C.

14. Oktober 2016 (MD-Net)

The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell

biological analysis

Proteomics Clin Appl. 2016 Oct 14. doi: 10.1002/prca.201600007. [Epub ahead of print]

Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W,

Senderek J, Weis J.

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6. Oktober 2016 (MitoNet)

Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON

mutations m.11778G>A and m.14484T>C of the mitochondrial DNA

Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. doi: 10.1016/j.mito.2016.10.002. [Epub ahead of

print]

Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.

3. Oktober 2016 (DysTract)

Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by

peripheral nerve injury.

Acta Neuropathol Commun. 2016 Oct 3;4(1):108

Ip CW, Isaias IU, Kusche-Tekin BB, Klein D, Groh J, O’Leary A, Knorr S, Higuchi T, Koprich JB, Brotchie JM, Toyka

KV, Reif A, Volkmann J.

1. Oktober 2016 (AID-Net)

Serum cell death biomarker mirrors liver cancer regression after transarterial chemoembolisation

Aliment Pharmacol Ther. 2016; 44(7):747-54

Bock B, Hasdemir D, Wandrer F, Rodt T, Manns MP, Schulze-Osthoff K, Bantel H.

28. September 2016 (AID-Net)

Alarming consequences – autoinflammatory disease spectrum due to mutations in proline-serine-threonine

phosphatase-interacting protein 1

Curr Opin Rheumatol. 2016 Sep;28(5):550-9

Holzinger D, Roth J.

28. September 2016 (PID-Net)

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.

BMJ Case Rep. 2016 Sep 28;2016. pii: bcr2016216922. doi: 10.1136/bcr-2016-216922

Christiansen M, Ammann S, Speckmann C, Mogensen TH

21. September 2016 (Imprinting)

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome

provides insight into distal enhancer regulation and tumorigenesis

Pediatr Blood Cancer. 2016 Sep 21

Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C


Alarmins firing arthritis: Helpful diagnostic tools and promising therapeutic targets

Joint Bone Spine. 2016 Sep 19. pii: S1297-319X(16)30127-0

Lavric M, Miranda-García MA, Holzinger D, Foell D, Wittkowski H.

1. September 2016 (MitoNet)

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia,

Dystonia, and Gaze Palsy

The American Journal of Human Genetics 99, 16 Sept 01

Tobias B. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula

Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti,

Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan

A. Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder,

Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll,

and Thomas Klopstock


Alarmin consequences – autoinflammatory disease spectrum due to mutations in proline-serine-threonine

phosphatase-interacting protein 1

Curr Opin Rheumatol. 2016 Sept; 28(5):550-9

Holzinger D, Roth J.

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1. September 2016 (Imprinting)

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the

Human Genome

Am J Hum Genet. 2016 Sep 1;99(3):555-66.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting

K, Cheung SW, Coffee B, Eggermann T10, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de

Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp

C20, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ

1. September 2016 (PID-Net)

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

Pediatr Allergy Immunol. 2016 Sep;27(6):640-4

Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon

M, Schwarz K, Neth O, Speckmann C

1. September 2016 (CMT-net)

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant

Axonal Polyneuropathies

The American Journal of Human Genetics 99, Sept 16

Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann, Catharina Chiari, David L.H.

Bennett, Christian Beetz, Dennis Klein, Peter M. Andersen, Ilka Böhme, Regina Fink-Puches, Michael Gonzalez,

Matthew B. Harms, William Motley, Mary M. Reilly, Wilfried Renner, Sabine Rudnik-Schöneborn, Beate

Schlotter-Weigel, Andreas C. Themistocleous, Jochen H. Weishaupt, Albert C. Ludolph, Thomas Wieland, Feifei

Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M. Strom, Thomas Walther, Steven S.

Scherer, Stephan Zu¨chner, Rudolf Martini, and Jan Senderek

10. August 2016 (AID-Net)

Inflammation and cancer: tissue regeneration gone awry

Curr Opin Cell Biol. 2016 Aug 10;43:55-61. doi: 10.1016/j.ceb.2016.07.010

Pesic M, Greten FR.

1. August 2016 (GALENUS)

Targeted Integration of a Super-Exon into the CFTR Locus Leads to Functional Correction of a Cystic Fibrosis

Cell Line Model

PLoS ONE 11(8), 2016 Aug 15

Christien Bednarski, Katja Tomczak, Beate vom Hövel, Wolf-Michael Weber, Toni Cathomen

29. Juli 2016 (CHROMATIN-Net)

Epigenetic dynamics of monocyte-to-macrophage differentiation

Epigenetics Chromatin 9:33.

Wallner S, Schröder C, Leitão E, Berulava T, Haak C, Beißer D, Rahmann S, Richter AS, Manke T, Bönisch U,

Arrigoni L, Fröhler S, Klironomos F, Chen W, Rajewsky N, Müller F, Ebert P, Lengauer T, Barann M, Rosenstiel P,

Gasparoni G, Nordström K, Walter J, Brors B, Zipprich G, Felder B, Klein-Hitpass L, Attenberger C, Schmitz G,

Horsthemke B

16. Juli 2016 (STOP-FSGS)

4D in vivo imaging of glomerular barrier function in a zebrafish podocyte injury model

Acta Physiologica (Oxf), 2016 Jul 16

Florian Siegerist, Weibin Zhou, Karlhans Endlich, Nicole Endlich

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16. Juli 2016 (PID-Net)

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort

study.

J Allergy Clin Immunol. 2016 Jul 16. pii: S0091-6749(16)30623-6. doi: 10.1016/j.jaci.2016.06.021

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR,

Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A,

Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R,

Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G,

Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S,

Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM,

Cant AJ

13. Juli 2016 (AID-Net)

Review of biomarkers in systemic juvenile idiopathic arthritis: helpful tools or just playing tricks?

Arthritis Res Ther. 2016 Jul 13;18:163

Gohar F, Kessel C, Lavric M, Holzinger D, Foell D.

5. Juli 2016 (AID-Net)

Small Molecule Inhibitors Targeting Tec Kinase Block Unconventional Secretion of Fibroblast Growth Factor 2

JBC Papers in Press, July 5, 2016

Giuseppe La Venuta, Sabine Wegehingel, Peter Sehr, Hans-Michael Müller, Eleni Dimou, Julia P. Steringer,

Mareike Grotwinkel, Nikolai Hentze, Matthias P. Mayer, David W. Will§, Ulrike Uhrig, Joe D. Lewis, and Walter

Nickel

5. Juli 2016 (PID-Net)

Viral and synthetic RNA vector technologies and applications

Mol Ther. 2016 Jul 5. doi: 10.1038/mt.2016.143. [Epub ahead of print]

Wilhelmine Schott J, Morgan M, Galla M, Schambach A.

22. Juni 2016 (AID-Net)

Secretory Activity of Neutrophils Correlates With Genotype in Familial Mediterranean Fever

Arthritis Rheumatol. 2016 Jun 22.

Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas JP, Dressler

F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D,

Wittkowski H.


Nuclear delivery of recombinant OCT4 by chitosan nanoparticles for transgene-free generation of protein-

induced pluripotent stem cells

Oncotarget. 2016; 7(25):37728-37739

Tammam S, Malak P, Correa D, Rothfuss O, Azzazy HM, Lamprecht A, Schulze-Osthoff K.

13. Juni 2016 (CMT-net)

Zeb2 is essential for Schwann cell differentiation, myelination and nerve repair

Nature Neuroscience, Epub 2016 Jun 13

Susanne Quintes, Bastian G Brinkmann, Madlen Ebert, Franziska Fröb, Theresa Kungl, Friederike A Arlt, Victor

Tarabykin, Danny Huylebroeck, Dies Meijer, Ueli Suter, Michael Wegner, Michael W Sereda & Klaus-Armin Nave


Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak

J Cell Sci. 2016;129(11):2213-23

Einsele-Scholz S, Malmsheimer S, Bertram K, Stehle D, Johänning J, Manz M, Daniel PT, Gillissen BF, Schulze-

Osthoff K, Essmann F.

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1. Juni 2016 (Imprinting)

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting

disturbances

Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20

Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz

S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B,

Ammerpohl O, Siebert R

11. Mai 2016 (Imprinting)

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15

imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

European Journal of Human Genetics advance online publication 11 May 2016; doi: 10.1038/ejhg.2016.45

Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David

Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner,

Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg,

Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay, and Thomas Eggermann,

1. Mai 2016 (Imprinting)

Correction of aberrant imprinting by allele-specific epigenome editing

Clin Pharmacol Ther. 2016 May;99(5):482-4.

Bashtrykov P, Kungulovski G, Jeltsch A

26. April 2016 (PID-Net)

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation and review of the literature

Pediatr Allergy Immunol. 2016 Apr 26. doi: 10.1111/pai.12585. [Epub ahead of print]

Olbrich P, Lorenz M, Cura Daball P, Lucenas JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon

M, Schwarz K, Neth O, Speckmann C.


Alpharetroviral self-inactivating vectors produced by a superinfection-resistant stable packaging cell line

allow genetic modification of primary human T lymphocytes

Biomaterials. 2016 Aug;97:97-109. doi: 10.1016/j.biomaterials.2016.04.019. Epub 2016 Apr 26.

Labenski V, Suerth JD, Barczak E, Heckl D, Levy C, Bernadin O, Charpentier E, Williams DA, Fehse B, Verhoeyen

E, Schambach A.


Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked

Chronic Granulomatous Disease iPSCs

Mol Ther 2015;24(4): 812-22.

Laugsch M, Rostovskaya M, Velychko S, Richter C, Zimmer A, Klink B, Schröck E, Haase M, Neumann K, Thieme

S, Roesler J, Brenner S, Anastassiadis K.

19. April 2016 (AID-Net)

The antihypertensive drug hydralazine activates the intrinsic pathway of apoptosis and causes DNA damage

in leukemic T cells

Oncotarget. 2016;7(16):21875-86

Ruiz-Magaña MJ, Martínez-Aguilar R, Lucendo E, Campillo-Davo D, Schulze-Osthoff K, Ruiz-Ruiz C.


The atypical inhibitor of NF-κB, IκBζ, controls macrophage interleukin-10 expression

J Biol Chem. 2016 Jun 10;291(24):12851-61. Epub 2016 Apr 18.

Hörber S, Hildebrand DG, Lieb WS, Lorscheid S, Hailfinger S, Schulze-Osthoff K, Essmann F.

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Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune

lymphoproliferative syndrome

Blood. 2016 Apr 20. pii: blood-2015-11-685024. [Epub ahead of print]

Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren

AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel

KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A.


Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy.

Mol Ther. 2016 Apr 12;24(4):678-84. doi: 10.1038/mt.2016.38. Epub 2016 Feb 12.

Papapetrou EP, Schambach A

4. April 2016 (Imprinting)

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Clin Epigenetics. 2016 May 4;8:47.

Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U,

Pelletier J, Zabel BU, Enklaar T, Prawitt D.

4. April 2016 (Geramy)

Polymorphism of Amyloid Fibrils In Vivo

Angew Chem Int Ed Engl. 2016 Apr 4;55(15):4822-5

Annamalai K, Gührs KH, Koehler R, Schmidt M, Michel H, Loos C, Gaffney PM, Sigurdson CJ, Hegenbart U,

Schönland S, Fändrich M.


The challenge of trial design in paediatric rheumatology

Nat Rev Rheumatol. 2016 Apr;12(4):242

Niehues T.


MALT1 Protease Activity Controls the Expression of Inflammatory Genes in Keratinocytes upon Zymosan

Stimulation

J Invest Dermatol. 2016;136(4):788-97

Schmitt A, Grondona P, Maier T, Brändle M, Schönfeld C, Jäger G, Kosnopfel C, Eberle FC, Schittek B, Schulze-

Osthoff K, Yazdi AS, Hailfinger S.


Caspase-1 regulates autoinflammation in rheumatic diseases

Z Rheumatol. 2016; 75(3):265-75.

Winkler S, Hedrich CM, Rösen-Wolff A.

31. März 2016 (AID-Net)

Dysregulation of proinflammatory versus anti-inflammatory human TH17 cell functionalities in the

autoinflammatory Schnitzler syndrome

J Allergy Clin Immunol. 2016 Mar 31. pii: S0091-6749(16)00266-9

Noster R, de Koning HD, Maier E, Prelog M, Lainka E, Zielinski CE.

27. März 2016 (MD-NetSTOP-FSGS)

Loss of Kynurenine 3-Mono-oxygenase Causes Proteinuria

J Am Soc Nephrol 27: March 2016. doi: 10.1681/ASN.2015070835

Ron Korstanje, Konstantin Deutsch, Patricia Bolanos-Palmieri, Nils Hanke, Patricia Schroder, Lynne Staggs, Jan

H. Bräsen, Ian S.D. Roberts, Susan Sheehan, Holly Savage, Hermann Haller, and Mario Schiffer

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15. März 2016 (Geramy)

Polymorphism of Amyloid Fibrils In Vivo

Angew. Chem. Int. Ed. 2016, 55, 1 – 5

Karthikeyan Annamalai, Karl-Heinz Gührs, Rolf Koehler, Matthias Schmidt, Henri Michel, Cornelia Loos, Patricia

M. Gaffney, Christina J. Sigurdson, Ute Hegenbart, Stefan Schönland, and Marcus Fändrich

11. März 2016 (Imprinting)

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-

Russell syndrome-like phenotypes

BMC Med Genet. 2016 Mar 11;17:20

Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas

Soellner, Matthias Begemann, and Thomas Eggermann


TRAPS-Syndrom ohne Nachweis einer Mutation im TNFRSF1A-Gen mit gutem Ansprechen auf Anakinra

arthritis und Rheuma 2016, 3/16: 187-189

F. Hamsen; C. Müntjes; W. Kampmann; B. Schweiger; U. Neudorf; E. Lainka

1. März 2016 (Imprinting)

Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features

Am J Med Genet A. 2016 Mar;170(3):743-9. doi: 10.1002/ajmg.a.37492

Carrera IA, de Zaldívar MS, Martín R, Begemann M, Soellner L, Eggermann T.

1. März 2016 (MND-net)

Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD

J Neural Transm (Vienna). 2016 Mar;123(3):289-96.

Feneberg E, Steinacker P, Volk AE, Weishaupt JH, Wollmer MA, Boxer A, Tumani H, Ludolph AC, Otto M.

1. März 2016 (MitoNet)

Life span extension by targeting a link between metabolism and histone acetylation in Drosophila

EMBO Rep. 2016 Mar

Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt

Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG.


Interferon-Mediated Cytokine Induction Determines Sustained Virus Control in Chronic Hepatitis C Virus

Infection

J Infect Dis. 2016; 213(5):746-54.

Wandrer F, Falk CS, John K, Skawran B, Manns MP, Schulze-Osthoff K, Bantel H.

1. März 2016 (PID-Net)

Letter to the Editor: Production of Mature Healthy Hematopoietic Cells from Induced Pluripotent Stem Cells

Derived from an AML Diagnostic Sample Containing the t(8;21) Translocation

Stem Cells. 2016 Mar;34(3):797-9. doi: 10.1002/stem.2207.

Hoffmann D, Göhring G, Heuser M, Ganser A, Schambach A, Morgan MA.

23. Februar 2016 (PID-Net)

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

Blood. 2016 Feb 23. pii: blood-2015-04-642488. [Epub ahead of print]

Ales Janda, Klaus Schwarz, Mirjam van der Burg, Werner Vach, Hanna Ijspeert, Myriam Ricarda Lorenz,

Magdeldin Elgizouli, Kathrin Pieper, Paul Fisch, Joachim Hagel, Raquel Lorenzetti, Maximilian Seidl, Joachim

Roesler, Fabian Hauck, Elisabetta Traggiai, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl, Hermann Eibel,

Marta Rizzi

9

18. Februar 2016 (Imprinting)

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

Epigenetics. 2016 Feb 18:0. [Epub ahead of print] PMID: 26890210

Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B.

12. Februar 2016 (AID-Net)

Inflammasome-dependent IL-1β release depends upon membrane permeabilisation

Cell Death and Differentiation (2016) 23, 1219–1231

F Martín-Sánchez, C Diamond, M Zeitler, AI Gomez, A Baroja-Mazo, J Bagnall, D Spiller, M White, MJD Daniels,

A Mortellaro, M Peñalver5, P Paszek, JP Steringer, W Nickel, D Brough, and P Pelegrín,


A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and

familial Beckwith-Wiedemann syndrome

Eur J Hum Genet. 2016 Feb 3. doi: 10.1038/ejhg.2016.3. [Epub ahead of print]

Beygo J, Joksic I, Strom TM, Lüdecke HJ, Kolarova J, Siebert R, Mikovic Z, Horsthemke B, Buiting K.


Epigenome Editing: State of the Art, Concepts, and Perspectives

Trends Genet. 2016 Feb;32(2):101-13.

Kungulovski G, Jeltsch A.


The paracaspase MALT1 dampens NF-κB signalling by cleaving the LUBAC subunit HOIL-1

FEBS J. 2016 Feb;283(3):400-2

Hailfinger S, Schmitt A, Schulze-Osthoff K.


Decrease of Store-Operated Ca2+ Entry and Increase of Na+/Ca2+ Exchange by Pharmacological JAK2

Inhibition

Cell Physiol Biochem. 2016;38(2):683-95

Yan J, Hosseinzadeh Z, Zhang B, Froeschl M, Schulze-Osthoff K, Stournaras C, Lang F.

18. Januar 2016 (AID-Net)

Interrogating Substrate Selectivity and Composition of Endogenous Histone Deacetylase Complexes with

Chemical Probes

Angew Chem Int Ed Engl. 2016;55(3):1192-5

Dose A, Sindlinger J, Bierlmeier J, Bakirbas A, Schulze-Osthoff K, Einsele-Scholz S, Hartl M, Essmann F,

Finkemeier I, Schwarzer D

1. Januar 2016 (Imprinting)

First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation

Eur J Med Genet. 2016 Jan;59(1):1-4. doi: 10.1016/j.ejmg.2015.12.003

Riess A, Binder G, Ziegler J, Begemann M, Soellner L, Eggermann T.

1. Januar 2016 (PID-Net)

Efficient generation of gene-modified human natural killer cells via alpharetroviral vectors

J Mol Med (Berl). 2016 Jan;94(1):83-93. doi: 10.1007/s00109-015-1327-6. Epub 2015 Aug 25.

Suerth JD, Morgan MA, Kloess S, Heckl D, Neudörfl C, Falk CS, Koehl U, Schambach A.

1. Januar 2016 (PID-Net)

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

J Allergy Clin Immunol. 2016 Jan;137(1):223-30. doi: 10.1016/j.jaci.2015.09.025

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de

Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH,

Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B

Documents

Publikationen 2016 der Forschungsverbünde für … · Publikationen 2016 der Forschungsverbünde für seltene Erkrankungen ... Liehr T, Mackay DJ, ... William Motley, Mary M. Reilly,