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Works (50 of 71)

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Page 1 of 2

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

European Archives of Oto-Rhino-Laryngology
2024-07 | Journal article
DOI: 10.1007/s00405-024-08492-5
Contributors: Alexandra Frohne; Sybille Vrabel; Franco Laccone; Juergen Neesen; Sebastian Roesch; Silvia Dossena; Christian Schoefer; Klemens Frei; Thomas Parzefall
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Crossref

Senescence-associated ß-galactosidase staining over the lifespan differs in a short- and a long-lived fish species

European Journal of Histochemistry
2024-02-29 | Journal article
DOI: 10.4081/ejh.2024.3977
Contributors: Simon Schöfer; Sylvia Laffer; Stefanie Kirchberger; Michael Kothmayer; Renate Löhnert; Elmar E. Ebner; Klara Weipoltshammer; Martin Distel; Oliver Pusch; Christian Schöfer
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Crossref

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Human Genetics
2023-08 | Journal article
DOI: 10.1007/s00439-022-02506-0
Contributors: Alexandra Frohne; Martin Koenighofer; Hakan Cetin; Michael Nieratschker; David T. Liu; Franco Laccone; Juergen Neesen; Stefan F. Nemec; Ursula Schwarz-Nemec; Christian Schoefer et al.
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Crossref

CX-5461 causes nucleolar compaction, alteration of peri- and intranucleolar chromatin arrangement, an increase in both heterochromatin and DNA damage response

Scientific Reports
2022-08-17 | Journal article
DOI: 10.1038/s41598-022-17923-4
Contributors: Luc Snyers; Sylvia Laffer; Renate Löhnert; Klara Weipoltshammer; Christian Schöfer
Source: check_circle
Crossref

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

Clinical Otolaryngology
2021-09 | Journal article
DOI: 10.1111/coa.13782
Contributors: Martin Koenighofer; Thomas Parzefall; Alexandra Frohne; Elisabeth Frei; Christian Schoefer; Franco Laccone; Patricia Feil; Klemens Frei; Trevor Lucas
Source: check_circle
Crossref

Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

Clinical and Experimental Otorhinolaryngology
2019-11-01 | Journal article
DOI: 10.21053/ceo.2019.00304
Contributors: Martin Koenighofer; Thomas Parzefall; Alexandra Frohne; Matthew Allen; Ursula Unterberger; Franco Laccone; Christian Schoefer; Klemens Frei; Trevor Lucas
Source: check_circle
Crossref

Nucleolus and chromatin.

Histochemistry and cell biology
2018-07 | Journal article
DOI: 10.1007/s00418-018-1696-3
PMID: 30046888
Contributors: Schöfer C; Weipoltshammer K
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central
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Histone deacetylase 1 expression is inversely correlated with age in the short-lived fish Nothobranchius furzeri.

Histochemistry and cell biology
2018-06 | Journal article
DOI: 10.1007/s00418-018-1687-4
PMID: 29951776
Contributors: Zupkovitz G; Lagger S; Martin D; Steiner M; Hagelkruys A; Seiser C; Schöfer C; Pusch O
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

Hepatocyte specific expression of an oncogenic variant of β-catenin results in lethal metabolic dysfunction in mice.

Oncotarget
2018-01 | Journal article
DOI: 10.18632/oncotarget.24346
PMID: 29541410
PMC: PMC5834276
Contributors: Lemberger UJ; Fuchs CD; Schöfer C; Bileck A; Gerner C; Stojakovic T; Taketo MM; Trauner M; Egger G; Österreicher CH
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

LEM4/ANKLE-2 deficiency impairs post-mitotic re-localization of BAF, LAP2α and LaminA to the nucleus, causes nuclear envelope instability in telophase and leads to hyperploidy in HeLa cells.

European journal of cell biology
2017-12 | Journal article
DOI: 10.1016/j.ejcb.2017.12.001
PMID: 29254732
Contributors: Snyers L; Erhart R; Laffer S; Pusch O; Weipoltshammer K; Schöfer C
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2017-08 | Journal article
DOI: 10.1007/s00405-017-4699-0
PMID: 28821934
PMC: PMC5591807
Contributors: Parzefall T; Frohne A; Koenighofer M; Kirchnawy A; Streubel B; Schoefer C; Frei K; Lucas T
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Wiener klinische Wochenschrift
2017-07 | Journal article
DOI: 10.1007/s00508-017-1230-y
PMID: 28733840
PMC: PMC5966484
Contributors: Parzefall T; Frohne A; Koenighofer M; Kirchnawy A; Streubel B; Schoefer C; Gstoettner W; Frei K; Lucas T
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2017-02 | Journal article
DOI: 10.1097/mao.0000000000001286
PMID: 27861301
Contributors: Wolf A; Frohne A; Allen M; Parzefall T; Koenighofer M; Schreiner MM; Schoefer C; Frei K; Lucas T
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

In focus in Vienna: the cell nucleus

Histochemistry and Cell Biology
2016 | Journal article
DOI: 10.1007/s00418-016-1420-0
EID:

2-s2.0-84958746338
Contributors: Weipoltshammer, K.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Morphology of nuclear transcription

Histochemistry and Cell Biology
2016 | Journal article
DOI: 10.1007/s00418-016-1412-0
EID:

2-s2.0-84957552727
Contributors: Weipoltshammer, K.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Hepatocyte specific expression of an oncogenic variant of β-catenin results in cholestatic liver disease.

Oncotarget
2016-12 | Journal article
DOI: 10.18632/oncotarget.13521
PMID: 27895309
PMC: PMC5349966
Contributors: Lemberger UJ; Fuchs CD; Karer M; Haas S; Stojakovic T; Schöfer C; Marschall HU; Wrba F; Taketo MM; Egger G et al.
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.

Acta oto-laryngologica
2016-11 | Journal article
DOI: 10.1080/00016489.2016.1249946
PMID: 27827000
Contributors: Parzefall T; Lucas T; Koenighofer M; Ramsebner R; Frohne A; Czeiger S; Baumgartner WD; Schoefer C; Gstoettner W; Frei K
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

The promoter mutation c.−259C>T (−3438C>T) is not a common cause of non-syndromic hearing impairment in Austria

European Archives of Oto-Rhino-Laryngology
2015 | Journal article
DOI: 10.1007/s00405-014-3223-z
EID:

2-s2.0-84940037280
Contributors: Koenighofer, M.; Lucas, T.; Parzefall, T.; Ramsebner, R.; Schoefer, C.; Frei, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

A novel missense ndp mutation [p.(Cys93Arg)] with a manifesting carrier in an Austrian family with norrie disease

Audiology and Neurotology
2014 | Journal article
DOI: 10.1159/000358866
EID:

2-s2.0-84899616258
Contributors: Parzefall, T.; Lucas, T.; Ritter, M.; Ludwig, M.; Ramsebner, R.; Frohne, A.; Schöfer, C.; Hengstschläger, M.; Frei, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

A single allele of Hdac2 but not Hdac1 is sufficient for normal mouse brain development in the absence of its paralog

Development (Cambridge)
2014 | Journal article
DOI: 10.1242/dev.100487
EID:

2-s2.0-84892696315
Contributors: Hagelkruys, A.; Lagger, S.; Krahmer, J.; Leopoldi, A.; Artaker, M.; Pusch, O.; Zezula, J.; Weissmann, S.; Xie, Y.; Schöfer, C. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family

International Journal of Pediatric Otorhinolaryngology
2014 | Journal article
DOI: 10.1016/j.ijporl.2014.02.025
EID:

2-s2.0-84898543121
Contributors: Ramsebner, R.; Koenighofer, M.; Parzefall, T.; Lucas, T.; Schoefer, C.; Frei, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Distinct chromatin signature of histone H3 variant H3.3 in human cells

Nucleus
2014 | Journal article
DOI: 10.4161/nucl.36229
EID:

2-s2.0-84908216904
Contributors: Snyers, L.; Zupkovitz, G.; Almeder, M.; Fliesser, M.; Stoisser, A.; Weipoltshammer, K.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube

Differentiation
2013 | Journal article
DOI: 10.1016/j.diff.2012.12.001
EID:

2-s2.0-84872370840
Contributors: Murko, C.; Lagger, S.; Steiner, M.; Seiser, C.; Schoefer, C.; Pusch, O.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

Otology and Neurotology
2013 | Journal article
DOI: 10.1097/MAO.0b013e31828d6501
EID:

2-s2.0-84876832194
Contributors: Ramsebner, R.; Ludwig, M.; Lucas, T.; de Jong, D.; Hamader, G.; del Castillo, I.; Parzefall, T.; Baumgartner, W.-D.; Schoefer, C.; Szuhai, K. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2013 | Journal article
EID:

2-s2.0-84891604713
Contributors: Ramsebner, R.; Ludwig, M.; Lucas, T.; de Jong, D.; Hamader, G.; del Castillo, I.; Parzefall, T.; Baumgartner, W.D.; Schoefer, C.; Szuhai, K. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Chromosomal dynamics of cell cycle regulator gene p21 during transcriptional activation

Journal of Structural Biology
2011 | Journal article
DOI: 10.1016/j.jsb.2010.10.010
EID:

2-s2.0-78751575919
Contributors: Philimonenko, A.A.; Janacek, J.; Snyers, L.; Almeder, M.; Berger, W.; Schmidt, W.; Schöfer, C.; Hozák, P.; Weipoltshammer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

HVps37A status affects prognosis and cetuximab sensitivity in ovarian cancer

Clinical Cancer Research
2011 | Journal article
DOI: 10.1158/1078-0432.CCR-11-0408
EID:

2-s2.0-84055211758
Contributors: Wittinger, M.; Vanhara, P.; El-Gazzar, A.; Savarese-Brenner, B.; Pils, D.; Anees, M.; Grunt, T.W.; Sibilia, M.; Holcmann, M.; Horvat, R. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Immunohistochemical expression analysis of Cx43, Cx26, c-KIT and PlAP in contralateral testis biopsies of patients with non-seminomatous testicular germ cell tumor

Histochemistry and Cell Biology
2011 | Journal article
DOI: 10.1007/s00418-010-0769-8
EID:

2-s2.0-78651508494
Contributors: Steiner, M.; Weipoltshammer, K.; Viehberger, G.; Meixner, E.-M.; Lunglmayr, G.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Laryngoscope
2010 | Journal article
DOI: 10.1002/lary.20689
EID:

2-s2.0-76249133937
Contributors: Ramsebner, R.; Ludwig, M.; Parzefall, T.; Lucas, T.; Baumgartner, W.-D.; Bodamer, O.; Cengiz, F.B.; Schoefer, C.; Tekin, M.; Frei, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Expression of class i histone deacetylases during chick and mouse development

International Journal of Developmental Biology
2010 | Journal article
DOI: 10.1387/ijdb.092971cm
EID:

2-s2.0-79751480417
Contributors: Murko, C.; Lagger, S.; Steiner, M.; Seiser, C.; Schoefer, C.; Pusch, O.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Expression of class I histone deacetylases during chick and mouse development.

The International journal of developmental biology
2010 | Journal article
EID:

2-s2.0-79960989156
Contributors: Murko, C.; Lagger, S.; Steiner, M.; Seiser, C.; Schoefer, C.; Pusch, O.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Expression patterns of protein C inhibitor in mouse development

Journal of Molecular Histology
2010 | Journal article
DOI: 10.1007/s10735-010-9259-5
EID:

2-s2.0-77951090656
Contributors: Wagenaar, G.T.M.; Uhrin, P.; Weipoltshammer, K.; Almeder, M.; Hiemstra, P.S.; Geiger, M.; Meijers, J.C.M.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Somatic cell reprogramming by transfection with liposomal agents.

Journal of stem cells & regenerative medicine
2010-10 | Journal article
PMID: 24693078
Contributors: Samorapoompichit P; Lucas T; Schöfer C; Kriwanek S; Krugluger W; Hopmeier P
Source: Self-asserted source
Christian Schöfer via Europe PubMed Central

Characterization of NKIP: A novel, Na+/K+-ATPase interacting protein mediates neural differentiation and apoptosis

Experimental Cell Research
2008 | Journal article
DOI: 10.1016/j.yexcr.2007.11.013
EID:

2-s2.0-38349023174
Contributors: Pratscher, B.; Friedrich, C.; Goger, W.; Allen, M.; Fink, D.; Thallinger, C.; Wolschek, M.; Frei, K.; Schöfer, C.; Pehamberger, H. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Gene dynamics and nuclear architecture during differentiation

Differentiation
2008 | Journal article
DOI: 10.1111/j.1432-0436.2007.00218.x
EID:

2-s2.0-38149053614
Contributors: Schöfer, C.; Weipoltshammer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

In Situ Hybridization at the Electron Microscopic Level

In Situ Hybridization: Laboratory Companion
2008 | Book
DOI: 10.1002/9783527615070.ch6
EID:

2-s2.0-84953380038
Contributors: Wachtler, F.; Schöfer, C.; Weipoltshammer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Lamina-associated polypeptide 2α forms complexes with heat shock proteins Hsp70 and Hsc70 in vivo

Biochemical and Biophysical Research Communications
2008 | Journal article
DOI: 10.1016/j.bbrc.2008.01.139
EID:

2-s2.0-39749093029
Contributors: Snyers, L.; Schöfer, C.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Special issue on nuclear structure, chromatin, and differentiation

Differentiation
2008 | Journal article
DOI: 10.1111/j.1432-0436.2007.00253.x
EID:

2-s2.0-38149016099
Contributors: Schöfer, C.; Weipoltshammer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Lamina-associated polypeptide 2-α forms homo-trimers via its C terminus, and oligomerization is unaffected by a disease-causing mutation

Journal of Biological Chemistry
2007 | Journal article
DOI: 10.1074/jbc.M605782200
EID:

2-s2.0-34249864306
Contributors: Snyers, L.; Vlcek, S.; Dechat, T.; Skegro, D.; Korbei, B.; Gajewski, A.; Mayans, O.; Schöfer, C.; Foisner, R.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Male fertility and protein C inhibitor/plasminogen activator inhibitor-3 (PCI): localization of PCI in mouse testis and failure of single plasminogen activator knockout to restore spermatogenesis in PCI-deficient mice

Fertility and Sterility
2007 | Journal article
DOI: 10.1016/j.fertnstert.2006.11.193
EID:

2-s2.0-34848885727
Contributors: Uhrin, P.; Schöfer, C.; Zaujec, J.; Ryban, L.; Hilpert, M.; Weipoltshammer, K.; Jerabek, I.; Pirtzkall, I.; Furtmüller, M.; Dewerchin, M. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria

Otology and Neurotology
2007 | Journal article
DOI: 10.1097/MAO.0b013e3181461b26
EID:

2-s2.0-34848918896
Contributors: Ramsebner, R.; Lucas, T.; Schoefer, C.; Ludwig, M.; Baumgartner, W.-D.; Wachtler, F.J.; Kirschhofer, K.; Frei, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

The human orthologue of a novel apoptosis response gene induced during rat myelomonocytic stem cell apoptosis maps to 20q13.12

Stem Cells and Development
2005 | Journal article
DOI: 10.1089/scd.2005.14.556
EID:

2-s2.0-28844445178
Contributors: Lucas, T.; Pratscher, B.; Fink, D.; Wolschek, M.; Samorapoompichit, P.; Schöfer, C.; Pehamberger, H.; Müller, M.; Sorensen, P.; Jansen, B.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness

Audiology and Neuro-Otology
2004 | Journal article
DOI: 10.1159/000074186
EID:

2-s2.0-0348010573
Contributors: Frei, K.; Lucas, T.; Ramsebner, R.; Schöfer, C.; Baumgartner, W.-D.; Weipoltshammer, K.; Erginel-Unaltuna, N.; Wachtler, F.J.; Kirschhofer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria

Hearing Research
2004 | Journal article
DOI: 10.1016/j.heares.2004.03.007
EID:

2-s2.0-3342971366
Contributors: Frei, K.; Ramsebner, R.; Hamader, G.; Lucas, T.; Schoefer, C.; Baumgartner, W.-D.; Wachtler, F.J.; Kirschhofer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Loss of novel mda-7 splice variant (mda-7s) expression is associated with metastatic melanoma

Journal of Investigative Dermatology
2004 | Journal article
DOI: 10.1111/j.0022-202X.2004.23321.x
EID:

2-s2.0-4143091627
Contributors: Allen, M.; Pratscher, B.; Roka, F.; Krepler, C.; Wacheck, V.; Schöfer, C.; Pehamberger, H.; Müller, M.; Lucas, T.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Mapping of cellular compartments based on ultrastructural immunogold labeling

Journal of Structural Biology
2004 | Journal article
DOI: 10.1016/j.jsb.2004.01.014
EID:

2-s2.0-2942576593
Contributors: Schöfer, C.; Janáček, J.; Weipoltshammer, K.; Pourani, J.; Hozák, P.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria

Hearing Research
2004 | Journal article
DOI: 10.1016/j.heares.2004.07.001
EID:

2-s2.0-4644370177
Contributors: Frei, K.; Ramsebner, R.; Lucas, T.; Baumgartner, W.-D.; Schoefer, C.; Wachtler, F.J.; Kirschhofer, K.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Muscle spindles and Golgi tendon organs in bovine calf extraocular muscle studied by means of double-fluorescent labeling, electron microscopy, and three-dimensional reconstruction

Experimental Eye Research
2003 | Journal article
DOI: 10.1016/S0014-4835(03)00157-X
EID:

2-s2.0-0041883490
Contributors: Blumer, R.; Konakci, K.Z.; Brugger, P.C.; Blumer, M.J.F.; Moser, D.; Schoefer, C.; Lukas, J.-R.; Streicher, J.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

C-erbB-3: A nuclear protein in mammary epithelial cells

Journal of Cell Biology
2002 | Journal article
DOI: 10.1083/jcb.200109033
EID:

2-s2.0-0037054551
Contributors: Offterdinger, M.; Schöfer, C.; Weipoltshammer, K.; Grunt, T.W.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

European Journal of Human Genetics
2002 | Journal article
DOI: 10.1038/sj.ejhg.5200826
EID:

2-s2.0-18544388829
Contributors: Frei, K.; Szuhai, K.; Lucas, T.; Weipoltshammer, K.; Schöfer, C.; Ramsebner, R.; Baumgartner, W.-D.; Raap, A.K.; Bittner, R.; Wachtler, F.J. et al.
Source: Self-asserted source
Christian Schöfer via Scopus - Elsevier
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