List of works - Kerstin Kutsche

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

scientific article

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

scientific article published on 30 January 2018

A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region

scientific article

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn

scientific article published in April 2010

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

scientific article published on 28 December 2016

AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling

scientific article published on 31 March 2008

AlphaPIX and betaPIX and their role in focal adhesion formation

scientific article

AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading

scientific article

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

scientific article

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

scientific article

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

scientific article published on January 2014

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation

scientific article published in October 2005

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome

scientific article published in May 2004

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

scientific article published on 8 December 2009

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits ⬇️

scientific article published on October 11, 2011

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

scientific article published on 22 December 2017

Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

scholarly article published in Nature Genetics

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.

scientific article published on 6 August 2012

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

scientific article

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

scientific article published on 20 October 2006

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome

scientific article

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

scientific article

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

scientific article published on 31 March 2017

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

scientific article

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

scientific article published on 31 January 2018

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

scientific article

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

scientific article (publication date: 15 January 2003)

Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

scientific article published on 30 July 2015

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

scientific article

Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts

scientific article published in October 2004

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

scientific article published on 6 August 2007

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

scientific article published on 28 October 2013

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

scientific article

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

scientific article

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

scientific article published on 3 October 2010

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

scientific article

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

scientific article published on September 2008

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

scientific article

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

article

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

scientific article published on 20 January 2018

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

scientific article

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

scientific article published on March 2009

PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation

scientific article

Phenotypic and molecular insights into CASK-related disorders in males

scientific article published on 12 April 2015

Phenotypic spectrum associated with CASK loss-of-function mutations

scientific article published on 27 September 2011

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

scientific article published on 18 May 2016

Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations ⬇️

scientific article published on April 3, 2013

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

scientific article

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

article by Juliette Piard et al published 1 June 2018 in Brain

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

scientific article published on 23 June 2007

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

scientific article

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

scientific article

The face of Noonan syndrome: Does phenotype predict genotype

scientific article published in August 2010

The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody

scientific article

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

scientific article

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

scientific article published on 7 August 2012

Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

scientific article published in March 2003

List of works by Kerstin Kutsche

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region

A restricted spectrum of NRAS mutations causes Noonan syndrome

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling

AlphaPIX and betaPIX and their role in focal adhesion formation

AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation

Disruption of neurexin 1 associated with autism spectrum disorder

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits ⬇️

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation

Phenotypic and molecular insights into CASK-related disorders in males

Phenotypic spectrum associated with CASK loss-of-function mutations

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations ⬇️

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

The face of Noonan syndrome: Does phenotype predict genotype

The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions