Works by Schweiger, Susann

Results: 40

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association.

Published in:

2022

By:

Stingl, Julia V.;
Diederich, Stefan;
Diel, Heidi;
Schuster, Alexander K.;
Wagner, Felix M.;
Chronopoulos, Panagiotis;
Aghayeva, Fidan;
Grehn, Franz;
Winter, Jennifer;
Schweiger, Susann;
Hoffmann, Esther M.

Publication type:

Case Study

Absence of the RING domain in MID1 results in patterning defects in the developing human brain.

Published in:

Life Science Alliance, 2024, v. 7, n. 4, p. 1, doi. 10.26508/lsa.202302288

By:

Frank, Sarah;
Gabassi, Elisa;
Käseberg, Stephan;
Bertin, Marco;
Zografidou, Lea;
Pfeiffer, Daniela;
Brennenstuhl, Heiko;
Falk, Sven;
Karow, Marisa;
Schweiger, Susann

Publication type:

Article

A Resilience Related Glial-Neurovascular Network Is Transcriptionally Activated after Chronic Social Defeat in Male Mice.

Published in:

Cells (2073-4409), 2022, v. 11, n. 21, p. 3405, doi. 10.3390/cells11213405

By:

Vennin, Constance;
Hewel, Charlotte;
Todorov, Hristo;
Wendelmuth, Marlon;
Radyushkin, Konstantin;
Heimbach, André;
Horenko, Illia;
Ayash, Sarah;
Müller, Marianne B.;
Schweiger, Susann;
Gerber, Susanne;
Lutz, Beat

Publication type:

Article

Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics Scale.

Published in:

Cells (2073-4409), 2020, v. 9, n. 12, p. 2642, doi. 10.3390/cells9122642

By:

Ruffini, Nicolas;
Klingenberg, Susanne;
Schweiger, Susann;
Gerber, Susanne

Publication type:

Article

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Published in:

2003

By:

Musante, Luciana;
Kehl, Hans G;
Majewski, Frank;
Meinecke, Peter;
Schweiger, Susann;
Gillessen-Kaesbach, Gabriele;
Wieczorek, Dagmar;
Hinkel, Georg K;
Tinschert, Sigrid;
Hoeltzenbein, Maria;
Ropers, Hans-Hilger;
Kalscheurer, Vera M

Publication type:

Correction Notice

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 201, doi. 10.1038/sj.ejhg.5200935

By:

Musante, Luciana;
Kehl, Hans G;
Majewski, Frank;
Meinecke, Peter;
Schweiger, Susann;
Gillessen-Kaesbach, Gabriele;
Wieczorek, Dagmar;
Hinkel, Georg K;
Tinschert, Sigrid;
Hoeltzenbein, Maria;
Ropers, Hans-Hilger;
Kalscheuer, Vera M

Publication type:

Article

Results of childhood glaucoma surgery over a long‐term period.

Published in:

Acta Ophthalmologica (1755375X), 2022, v. 100, n. 2, p. e448, doi. 10.1111/aos.14985

By:

Hoffmann, Esther M.;
Aghayeva, Fidan;
Schuster, Alexander K.;
Pfeiffer, Norbert;
Karsten, Mona;
Schweiger, Susann;
Pirlich, Nina;
Wagner, Felix M.;
Chronopoulos, Panagiotis;
Grehn, Franz

Publication type:

Article

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 287, doi. 10.1038/ng762

By:

Trockenbacher, Alexander;
Suckow, Vanessa;
Foerster, John;
Winter, Jennifer;
Krauß, Sybille;
Ropers, Hans-Hilger;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6034, doi. 10.3390/ijms22116034

By:

Schüle, Martin;
Butto, Tamer;
Dewi, Sri;
Schlichtholz, Laura;
Strand, Susanne;
Gerber, Susanne;
Endres, Kristina;
Schweiger, Susann;
Winter, Jennifer

Publication type:

Article

Mitochondrial function and energy metabolism in neuronal HT22 cells resistant to oxidative stress.

Published in:

British Journal of Pharmacology, 2014, v. 171, n. 8, p. 2147, doi. 10.1111/bph.12549

By:

Pfeiffer, Annika;
Jaeckel, Martin;
Lewerenz, Jan;
Noack, Rebecca;
Pouya, Alireza;
Schacht, Teresa;
Hoffmann, Christina;
Winter, Jennifer;
Schweiger, Susann;
Schäfer, Michael K E;
Methner, Axel

Publication type:

Article

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 277, doi. 10.1093/hmg/8.2.277

By:

Rinderle, Cornelia;
Christensen, Hoang-My;
Schweiger, Susann;
Lehrach, Hans;
Yaspo, Marie-Laure

Publication type:

Article

A hormone-dependent feedback-loop controls androgen receptor levels by limiting MID1, a novel translation enhancer and promoter of oncogenic signaling.

Published in:

Molecular Cancer, 2014, v. 13, n. 1, p. 1, doi. 10.1186/1476-4598-13-146

By:

Köhler, Andrea;
Demir, Ümmühan;
Kickstein, Eva;
Krauss, Sybille;
Aigner, Johanna;
Aranda-Orgillés, Beatriz;
Karagiannidis, Antonios I.;
Achmüller, Clemens;
Bu, Huajie;
Wunderlich, Andrea;
Schweiger, Michal-Ruth;
Schaefer, Georg;
Schweiger, Susann;
Klocker, Helmut;
Schneider, Rainer

Publication type:

Article

The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.

Published in:

BioEssays, 2003, v. 25, n. 4, p. 356, doi. 10.1002/bies.10256

By:

Schweiger, Susann;
Schneider, Rainer

Publication type:

Article

PPARδ Is a Type 1 IFN Target Gene and Inhibits Apoptosis in T Cells.

Published in:

Journal of Investigative Dermatology, 2008, v. 128, n. 8, p. 1940, doi. 10.1038/jid.2008.32

By:

Al Yacoub, Nadya;
Romanowska, Malgorzata;
Krauss, Sybille;
Schweiger, Susann;
Foerster, John

Publication type:

Article

PPARδ Enhances Keratinocyte Proliferation in Psoriasis and Induces Heparin-Binding EGF-Like Growth Factor.

Published in:

Journal of Investigative Dermatology, 2008, v. 128, n. 1, p. 110, doi. 10.1038/sj.jid.5700943

By:

Romanowska, Malgorzata;
al Yacoub, Nadya;
Seidel, Henrik;
Donandt, Susanne;
Gerken, Hannah;
Phillip, Sandra;
Haritonova, Nathalie;
Artuc, Metin;
Schweiger, Susann;
Sterry, Wolfram;
Foerster, John

Publication type:

Article

Haplotype Sharing Analysis Identifies a Retroviral dUTPase as Candidate Susceptibility Gene for Psoriasis.

Published in:

Journal of Investigative Dermatology, 2005, v. 124, n. 1, p. 99, doi. 10.1111/j.0022-202X.2004.23504.x

By:

Foerster, John;
Nolte, Ilja;
Junge, Judith;
Bruinenberg, Marcel;
Schweiger, Susann;
Spaar, Katja;
van der Steege, Gerrit;
Ehlert, Claudia;
Mulder, Marcel;
Kalscheuer, Vera;
Blumenthal-Barby, Elisa;
Winter, Jennifer;
Seeman, Petra;
Ständer, Markward;
Sterry, Wolfram;
te Meerman, Gerard

Publication type:

Article

Evaluation of the IRF-2 Gene as a Candidate for PSORS3.

Published in:

Journal of Investigative Dermatology, 2004, v. 122, n. 1, p. 61, doi. 10.1046/j.0022-202X.2003.22104.x

By:

Foerster, John;
Nolte, Ilja;
Schweiger, Susann;
Ehlert, Claudia;
Bruinenberg, Marcel;
Spaar, Katja;
van der Steege, Gerrit;
Mulder, Marcel;
Kalscheuer, Vera;
Moser, Bettina;
Kijas, Zofia;
Seeman, Petra;
Ständer, Markward;
Sterry, Wolfram;
te Meerman, Gerard

Publication type:

Article

18F-FDG PET/CT: an unexpected case of Huntington's disease.

Published in:

2019

By:

Michels, Sebastian;
Buchholz, Hans-Georg;
Rosar, Florian;
Heinrich, Isabel;
Hoffmann, Manuela A.;
Schweiger, Susann;
Tüscher, Oliver;
Schreckenberger, Mathias

Publication type:

journal article

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Published in:

Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193

By:

Wieland, Ilse;
Reardon, William;
Jakubiczka, Sibylle;
Franco, Brunella;
Kress, Wolfram;
Vincent-Delorme, Catherine;
Thierry, Patrick;
Edwards, Matt;
König, Rainer;
Rusu, Cristina;
Schweiger, Susann;
Thompson, Elizabeth;
Tinschert, Sigrid;
Stewart, Fiona;
Wieacker, Peter

Publication type:

Article

Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.

Published in:

Nature Communications, 2013, v. 4, n. 2, p. 1511, doi. 10.1038/ncomms2514

By:

Krauß, Sybille;
Griesche, Nadine;
Jastrzebska, Ewa;
Chen, Changwei;
Rutschow, Désiree;
Achmüller, Clemens;
Dorn, Stephanie;
Boesch, Sylvia M.;
Lalowski, Maciej;
Wanker, Erich;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

The Big Picture of Neurodegeneration: A Meta Study to Extract the Essential Evidence on Neurodegenerative Diseases in a Network-Based Approach.

Published in:

Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.866886

By:

Ruffini, Nicolas;
Klingenberg, Susanne;
Heese, Raoul;
Schweiger, Susann;
Gerber, Susanne

Publication type:

Article

Nanopore adaptive sampling of a metagenomic sample derived from a human monkeypox case.

Published in:

Journal of Medical Virology, 2024, v. 96, n. 5, p. 1, doi. 10.1002/jmv.29610

By:

Hewel, Charlotte;
Schmidt, Hanno;
Runkel, Stefan;
Kohnen, Wolfgang;
Schweiger‐Seemann, Susann;
Michel, André;
Bikar, Sven‐Ernö;
Lieb, Bettina;
Plachter, Bodo;
Hankeln, Thomas;
Linke, Matthias;
Gerber, Susanne

Publication type:

Article

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.

Published in:

Human Genetics, 2008, v. 123, n. 2, p. 163, doi. 10.1007/s00439-007-0456-6

By:

Aranda-Orgillés, Beatriz;
Trockenbacher, Alexander;
Winter, Jennifer;
Aigner, Johanna;
Köhler, Andrea;
Jastrzebska, Ewa;
Stahl, Joachim;
Müller, Eva-Christina;
Otto, Albrecht;
Wanker, Erich F.;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 559, doi. 10.1007/s00439-005-0084-y

By:

Shoichet, Sarah A.;
Duprez, Laurence;
Hagens, Olivier;
Waetzig, Vicki;
Menzel, Corinna;
Herdegen, Thomas;
Schweiger, Susann;
Dan, Bernard;
Vamos, Esther;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.

Publication type:

Article

Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.

Published in:

Human Genetics, 2004, v. 114, n. 6, p. 541, doi. 10.1007/s00439-004-1114-x

By:

Winter, Jennifer;
Lehmann, Tanja;
Krauβ, Sybille;
Trockenbacher, Alexander;
Kijas, Zofia;
Foerster, John;
Suckow, Vanessa;
Yaspo, Marie-Laure;
Kulozik, Andreas;
Kalscheuer, Vera;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5

By:

Winter, Jennifer;
Lehmann, Tanja;
Suckow, Vanessa;
Kijas, Zofia;
Kulozik, Andreas;
Kalscheuer, Vera;
Hamel, Ben;
Devriendt, Koen;
Opitz, John;
Lenzner, Steffen;
Ropers, Hans-Hilger;
Schweiger, Susann

Publication type:

Article

A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01711-0

By:

Holthöfer, Laura;
Diederich, Stefan;
Haug, Verena;
Lehmann, Lioba;
Hewel, Charlotte;
Paul, Norbert W.;
Schweiger, Susann;
Gerber, Susanne;
Linke, Matthias

Publication type:

Article

Childhood glaucoma registry in Germany: initial database, clinical care and research (pilot study).

Published in:

BMC Research Notes, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13104-022-05921-8

By:

Aghayeva, Fidan A.;
Schuster, Alexander K.;
Diel, Heidi;
Chronopoulos, Panagiotis;
Wagner, Felix M.;
Grehn, Franz;
Pirlich, Nina;
Schweiger, Susann;
Pfeiffer, Norbert;
Hoffmann, Esther M.

Publication type:

Article

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1214, doi. 10.1002/ajmg.a.61172

By:

Kahrizi, Kimia;
Huber, Mareike;
Galetzka, Danuta;
Dewi, Sri;
Schröder, Julia;
Weis, Eva;
Kariminejad, Ariana;
Fattahi, Zoherh;
Ropers, Hans‐Hilger;
Schweiger, Susann;
Najmabadi, Hossein;
Winter, Jennifer

Publication type:

Article

NDST1 missense mutations in autosomal recessive intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723

By:

Reuter, Miriam S.;
Musante, Luciana;
Hu, Hao;
Diederich, Stefan;
Sticht, Heinrich;
Ekici, Arif B.;
Uebe, Steffen;
Wienker, Thomas F.;
Bartsch, Oliver;
Zechner, Ulrich;
Oppitz, Cornelia;
Keleman, Krystyna;
Jamra, Rami Abou;
Najmabadi, Hossein;
Schweiger, Susann;
Reis, André;
Kahrizi, Kimia

Publication type:

Article

Alternative polyadenylation signals and promoters act in concert tocontrol tissue-specific expression of the Opitz Syndrome gene MID1.

Published in:

BMC Molecular Biology, 2007, v. 8, p. 105, doi. 10.1186/1471-2199-8-105

By:

Winter, Jennifer;
Kunath, Melanie;
Roepcke, Stefan;
Krause, Sven;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.

Published in:

BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-020-07362-8

By:

Weißbach, Stephan;
Sys, Stanislav;
Hewel, Charlotte;
Todorov, Hristo;
Schweiger, Susann;
Winter, Jennifer;
Pfenninger, Markus;
Torkamani, Ali;
Evans, Doug;
Burger, Joachim;
Everschor-Sitte, Karin;
May-Simera, Helen Louise;
Gerber, Susanne

Publication type:

Article

Metformin anti-tumor effect via disruption of the MID1 translational regulator complex and AR downregulation in prostate cancer cells.

Published in:

BMC Cancer, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2407-14-52

By:

Demir, Ummuhan;
Koehler, Andrea;
Schneider, Rainer;
Schweiger, Susann;
Klocker, Helmut

Publication type:

Article

Metformin anti-tumor effect via disruption of the MID1 translational regulator complex and AR downregulation in prostate cancer cells.

Published in:

2014

By:

Demir, Ummuhan;
Koehler, Andrea;
Schneider, Rainer;
Schweiger, Susann;
Klocker, Helmut

Publication type:

journal article

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007471

By:

Krauß, Sybille;
So, Joyce;
Hambrock, Melanie;
hler, Andrea Kö;
Kunath, Melanie;
Scharff, Constance;
Wessling, Martina;
Grzeschik, Karl-Heinz;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

Active Transport of the Ubiquitin Ligase MID1 along the Microtubules Is Regulated by Protein Phosphatase 2A.

Published in:

PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003507

By:

Aranda-Orgillés, Beatriz;
Aigner, Johanna;
Kunath, Melanie;
Lurz, Rudi;
Schneider, Rainer;
Schweiger, Susann

Publication type:

Article

Comparative 3'UTR Analysis Allows Identification of Regulatory Clusters that Drive Eph/ephrin Expression in Cancer Cell Lines.

Published in:

2008

By:

Winter, Jennifer;
Roepcke, Stefan;
Krause, Sven;
Müller, Eva-Christina;
Otto, Albrecht;
Vingron, Martin;
Schweiger, Susann

Publication type:

Bibliography

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Published in:

2018

By:

Komlosi, Katalin;
Diederich, Stefan;
Fend-Guella, Desiree Lucia;
Bartsch, Oliver;
Winter, Jennifer;
Zechner, Ulrich;
Beck, Michael;
Meyer, Peter;
Schweiger, Susann

Publication type:

journal article

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-13918-4

By:

Cooper, Alexis;
Butto, Tamer;
Hammer, Niklas;
Jagannath, Somanath;
Fend-Guella, Desiree Lucia;
Akhtar, Junaid;
Radyushkin, Konstantin;
Lesage, Florian;
Winter, Jennifer;
Strand, Susanne;
Roeper, Jochen;
Zechner, Ulrich;
Schweiger, Susann

Publication type:

Article

CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue.

Published in:

Epigenetics, 2016, v. 11, n. 2, p. 120, doi. 10.1080/15592294.2016.1140295

By:

Etzold, Anna;
Galetzka, Danuta;
Weis, Eva;
Bartsch, Oliver;
Haaf, Thomas;
Spix, Claudia;
Itzel, Timo;
Schweiger, Susann;
Strand, Dennis;
Strand, Susanne;
Zechner, Ulrich

Publication type:

Article