Publications by authors named "Kerstin Kutsche"

99Publications

Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization.

J Neurochem 2020 Oct 14. Epub 2020 Oct 14.

Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse, 52. 20246, Hamburg, Germany.

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http://dx.doi.org/10.1111/jnc.15215DOI Listing
October 2020

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Am J Med Genet A 2020 Aug 11. Epub 2020 Aug 11.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61826DOI Listing
August 2020

Genotype-Phenotype Correlation in Children: The Impact of Variants on Pediatric Marfan Care.

Genes (Basel) 2020 Jul 15;11(7). Epub 2020 Jul 15.

Pediatric Cardiology, University Heart and Vascular Center Hamburg, Martinistrasse 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.3390/genes11070799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397236PMC
July 2020

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.

Int J Dermatol 2020 Jul 9;59(7):864-866. Epub 2020 May 9.

Department of Dermatology, Greys Hospital, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.

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http://dx.doi.org/10.1111/ijd.14905DOI Listing
July 2020

Single-channel properties of skeletal muscle ryanodine receptor pore ΔFF in two brothers with a lethal form of fetal akinesia.

Cell Calcium 2020 05 17;87:102182. Epub 2020 Feb 17.

Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ceca.2020.102182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216825PMC
May 2020

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02011-xDOI Listing
June 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

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

PLoS Genet 2018 05 7;14(5):e1007370. Epub 2018 May 7.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1007370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937737PMC
May 2018

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

Am J Med Genet A 2018 04;176(4):992-996

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38635DOI Listing
April 2018

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Indian J Pediatr 2018 Dec 31;85(12):1067-1072. Epub 2018 Jan 31.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India.

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http://link.springer.com/10.1007/s12098-018-2632-1
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http://dx.doi.org/10.1007/s12098-018-2632-1DOI Listing
December 2018

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

Eur J Med Genet 2018 Jun 7;61(6):329-334. Epub 2018 May 7.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.010DOI Listing
June 2018

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

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38568DOI Listing
February 2018

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Genet Med 2017 07 1;19(7):772-777. Epub 2016 Dec 1.

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1038/gim.2016.181DOI Listing
July 2017

Response to Calgani et al.

Genet Med 2016 12 29;18(12):1321. Epub 2016 Sep 29.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://www.nature.com/articles/gim2016138
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http://dx.doi.org/10.1038/gim.2016.138DOI Listing
December 2016

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

Am J Med Genet A 2016 11 18;170(11):2998-3003. Epub 2016 May 18.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37759DOI Listing
November 2016

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

Am J Med Genet A 2016 07 4;170(7):1813-9. Epub 2016 May 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37682DOI Listing
July 2016

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Eur J Hum Genet 2016 08 16;24(8):1206-10. Epub 2015 Dec 16.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970677PMC
August 2016

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.

J Hum Genet 2015 Sep 30;60(9):465-6. Epub 2015 Jul 30.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/jhg.2015.95DOI Listing
September 2015

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

Mol Syndromol 2014 Aug 1;5(5):251-6. Epub 2014 Aug 1.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1159/000365768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188163PMC
August 2014

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

An Bras Dermatol 2014 Jan-Feb;89(1):180-1

University Medical Center Hamburg-Eppendorf, Institute of Human Genetics, Hamburg, Germany, Professor, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1590/abd1806-4841.20142240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938380PMC
September 2014

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Am J Med Genet A 2014 Apr 23;164A(4):1035-40. Epub 2014 Jan 23.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.36381DOI Listing
April 2014

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

Eur J Hum Genet 2014 Jul 6;22(7):944-8. Epub 2013 Nov 6.

Department of Human Genetics, Center for Obstetrics and Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://www.nature.com/articles/ejhg2013252
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http://dx.doi.org/10.1038/ejhg.2013.252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060107PMC
July 2014

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

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Eur J Med Genet 2013 Jun 3;56(6):325-30. Epub 2013 Apr 3.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130008
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http://dx.doi.org/10.1016/j.ejmg.2013.03.009DOI Listing
June 2013

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.

Eur J Med Genet 2013 Apr 23;56(4):188-91. Epub 2013 Jan 23.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.004DOI Listing
April 2013

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Am J Med Genet A 2013 Feb 10;161A(2):352-9. Epub 2013 Jan 10.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.35730
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http://dx.doi.org/10.1002/ajmg.a.35730DOI Listing
February 2013

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

Eur J Med Genet 2012 Nov 7;55(11):615-9. Epub 2012 Aug 7.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.007DOI Listing
November 2012

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

Hum Mol Genet 2012 Dec 19;21(23):5019-38. Epub 2012 Aug 19.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1093/hmg/dds343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490508PMC
December 2012

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

Hippocampus 2013 Feb 6;23(2):117-21. Epub 2012 Aug 6.

Department of Systems Neuroscience, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/hipo.22059DOI Listing
February 2013

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Am J Med Genet A 2010 Nov;152A(11):2861-4

Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India.

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http://dx.doi.org/10.1002/ajmg.a.33687DOI Listing
November 2010

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

Eur J Med Genet 2010 Sep-Oct;53(5):322-4. Epub 2010 Jul 29.

SC Genetica Medica, Ospedale Materno Infantile IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.011DOI Listing
January 2011

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

Clin Dysmorphol 2010 Apr;19(2):82-4

Department of Pediatrics and Adolescent Medicine, Innsbruck Medical University, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e32833593b7DOI Listing
April 2010

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.

Genes Chromosomes Cancer 2010 Feb;49(2):171-5

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/gcc.20733DOI Listing
February 2010

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

Hum Mutat 2009 Mar;30(3):352-62

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/humu.20855
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http://dx.doi.org/10.1002/humu.20855DOI Listing
March 2009

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

Mol Cell Biol 2008 Jun 31;28(11):3776-89. Epub 2008 Mar 31.

Institute of Physiological Chemistry, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.

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http://dx.doi.org/10.1128/MCB.00507-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423308PMC
June 2008

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

Am J Med Genet A 2007 Nov;143A(22):2668-74

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32034DOI Listing
November 2007

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

Mol Vis 2007 Aug 27;13:1475-82. Epub 2007 Aug 27.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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August 2007

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.

Eur J Med Genet 2007 Nov-Dec;50(6):421-31. Epub 2007 Aug 6.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Campus Forschung, Gebäude 146, Martinistrasse 52, D-20246 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2007.07.004DOI Listing
March 2008

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

Am J Med Genet A 2007 Jan;143A(2):107-11

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital/Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31544DOI Listing
January 2007

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Eur J Hum Genet 2007 Jan 11;15(1):29-34. Epub 2006 Oct 11.

Unidad de Genética, Hospital Universitario La Fe, Departamento de Genética, Universidad de Valencia, Valencia, Spain.

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http://www.nature.com/articles/5201717
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http://dx.doi.org/10.1038/sj.ejhg.5201717DOI Listing
January 2007

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

J Cell Physiol 2006 Nov;209(2):568-79

Institut für Prophylaxe und Epidemiologie der Kreislaufkrankheiten, Pettenkoferstr, München, Germany.

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http://doi.wiley.com/10.1002/jcp.20777
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http://dx.doi.org/10.1002/jcp.20777DOI Listing
November 2006

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

Genomics 2006 Feb 10;87(2):243-53. Epub 2006 Jan 10.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2005.11.006DOI Listing
February 2006

AlphaPIX and betaPIX and their role in focal adhesion formation.

Eur J Cell Biol 2006 Apr 5;85(3-4):265-74. Epub 2005 Dec 5.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ejcb.2005.10.007DOI Listing
April 2006

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

J Biol Chem 2005 Feb 20;280(8):6879-89. Epub 2004 Dec 20.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, D-22529 Hamburg, Germany.

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http://dx.doi.org/10.1074/jbc.M412119200DOI Listing
February 2005

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

Eur J Endocrinol 2004 Oct;151(4):521-9

Children's Hospital, University of Hamburg 20246 Hamburg, Germany.

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http://dx.doi.org/10.1530/eje.0.1510521DOI Listing
October 2004

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

Genomics 2004 May;83(5):883-92

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2003.10.012DOI Listing
May 2004