List of works - Christian Schöfer

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

scientific article published in February 2010

A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness

scientific article published on 01 January 2004

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment

scientific article published on 17 November 2016

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

scientific article published in 2022

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease

scientific article

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

scientific article published on February 2014

Arrangement of individual human ribosomal DNA fragments on stretched DNA fibers

scientific article published on 01 August 1998

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

scientific article published on 24 November 2007

Chromosomal dynamics of cell cycle regulator gene p21 during transcriptional activation ⬇️

scientific article published on October 23, 2010

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

scientific article published in July 2002

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

scientific article published on 26 February 2014

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

scientific article

Expression patterns of protein C inhibitor in mouse development.

scientific article

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

scientific article

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

scientific article published on 30 January 2018

Histone deacetylase 1 expression is inversely correlated with age in the short-lived fish Nothobranchius furzeri

scientific article published on 28 June 2018

Human ribosomal RNA gene repeats are localized in the dense fibrillar component of nucleoli: light and electron microscopic in situ hybridization in human Sertoli cells

scientific article published on 01 January 1992

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

scientific article published in June 2013

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

scientific article

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

scientific article

In focus in Vienna: the cell nucleus.

scientific article published on 18 February 2016

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.

scientific article published on 11 December 2017

Lamina-associated Polypeptide 2-α Forms Homo-trimers via Its C Terminus, and Oligomerization Is Unaffected by a Disease-causing Mutation

scientific article published in Journal of Biological Chemistry

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

scientific article published on 07 February 2008

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

scientific article published on September 2004

Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability

scientific article (publication date: 2 November 2001)

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

scientific article published on 16 April 2007

Mapping of cellular compartments based on ultrastructural immunogold labeling

scientific article published on 01 August 2004

Morphology of nuclear transcription

scientific article

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

scientific article published on 01 October 2003

Nucleoli, nucleolar chromosomes and ribosomal genes in the human spermatocyte

scientific article

Nucleolus and chromatin

scientific article published on 25 July 2018

Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice

scientific article published on 01 May 1999

Ribosomal gene transcription is organized in foci within nucleolar components

scientific article published on 01 February 1998

Signal amplification at the ultrastructural level using biotinylated tyramides and immunogold detection

scientific article published on 01 October 1997

Somatic cell reprogramming by transfection with liposomal agents

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

scientific article published on 2 August 2014

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

scientific article published on 9 November 2016

The transcription unit of ribosomal genes is attached to the nuclear skeleton

scientific article published on 01 September 1996

Transcribed and nontranscribed parts of the human ribosomal gene repeat show a similar pattern of distribution in nucleoli

scientific article published on 01 January 1991

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

scientific article published on 18 August 2017

c-erbB-3: a nuclear protein in mammary epithelial cells.

scientific article

hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer

scientific article published on 20 October 2011

List of works by Christian Schöfer

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

A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment

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

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease

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

Arrangement of individual human ribosomal DNA fragments on stretched DNA fibers

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

Chromosomal dynamics of cell cycle regulator gene p21 during transcriptional activation ⬇️

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

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

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

Expression patterns of protein C inhibitor in mouse development.

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

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

Histone deacetylase 1 expression is inversely correlated with age in the short-lived fish Nothobranchius furzeri

Human ribosomal RNA gene repeats are localized in the dense fibrillar component of nucleoli: light and electron microscopic in situ hybridization in human Sertoli cells

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

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

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

In focus in Vienna: the cell nucleus.

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.

Lamina-associated Polypeptide 2-α Forms Homo-trimers via Its C Terminus, and Oligomerization Is Unaffected by a Disease-causing Mutation

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

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

Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability

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

Mapping of cellular compartments based on ultrastructural immunogold labeling

Morphology of nuclear transcription

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

Nucleoli, nucleolar chromosomes and ribosomal genes in the human spermatocyte

Nucleolus and chromatin

Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice

Ribosomal gene transcription is organized in foci within nucleolar components

Signal amplification at the ultrastructural level using biotinylated tyramides and immunogold detection

Somatic cell reprogramming by transfection with liposomal agents

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

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

The transcription unit of ribosomal genes is attached to the nuclear skeleton

Transcribed and nontranscribed parts of the human ribosomal gene repeat show a similar pattern of distribution in nucleoli

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

c-erbB-3: a nuclear protein in mammary epithelial cells.

hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer