J. Kühnisch

发表

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing

M. Schuelke, P. Nürnberg, S. Tinschert, 2007, Electrophoresis.

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

S. Mundlos, V. Haucke, U. Kornak, 2016, Human molecular genetics.

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

E. Klopocki, J. Kühnisch, S. Störk, 2019, Human mutation.

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

D. Messroghli, T. Kuehne, J. Kühnisch, 2019, Journal of the American Heart Association.

The Skeletal Phenotype in Neurofibromatosis Type 1 - Structural Defects, Molecular Mechanisms and Therapeutic Approaches

J. Kühnisch, W. Seifert, M. Kolanczyk, 2016 .

Neurofibromin (Nf1) is required for skeletal muscle development.

P. Robinson, S. Mundlos, C. Rödelsperger, 2011, Human molecular genetics.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

S. Mundlos, L. Kluwe, T. Żemojtel, 2011, BMC medicine.

Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome

J. Kühnisch, S. Klaassen, A. Schultze-Berndt, 2022, Journal of cardiovascular development and disease.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation

S. Mundlos, C. Klein, U. Kornak, 2018, PloS one.

Neuro fi bromin inactivation impairs osteocyte development in Nf 1 Prx 1 and Nf 1 Col 1 mouse models

S. Mundlos, P. Fratzl, J. Kühnisch, 2014 .

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

D. Felsenberg, U. Kornak, J. Kühnisch, 2014, Bone.

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models.

S. Mundlos, P. Fratzl, J. Kühnisch, 2014, Bone.

Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy

D. Messroghli, J. Kühnisch, F. Berger, 2022, Frontiers in Cardiovascular Medicine.

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

K. Klingel, U. Landmesser, L. Monserrat, 2020, Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

D. Horn, K. Dahan, M. Holder-Espinasse, 2009, Human mutation.

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

S. Mundlos, U. Kornak, J. Kühnisch, 2008, BMC medicine.

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis—Further Impact of Heterozygous Immune Disorder Gene Variants?

M. Holtgrewe, D. Beule, K. Klingel, 2022, Journal of cardiovascular development and disease.

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

M. Holtgrewe, D. Beule, D. Messroghli, 2019, Clinical genetics.

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

J. Kühnisch, S. Bachmann, W. Seifert, 2022, Scientific Reports.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

P. Kaplan, S. Mundlos, J. Clayton-Smith, 2008, Nature Genetics.

Neuroﬁbromin (Nf1) is required for skeletal muscle development

T. Braun, P. Robinson, S. Mundlos, 2011 .

Multiple roles for neuroﬁbromin in skeletal development and growth

S. Mundlos, P. Fratzl, B. Herrmann, 2022 .

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014, European Journal of Human Genetics.

Molecular Markers Reveal Exclusively Clonal Reproduction in Trichophyton rubrum

J. Kühnisch, W. Presber, Y. Gräser, 1999, Journal of Clinical Microbiology.

Mouse models of cystathionine β‐synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

J. Kühnisch, M. Slifker, K. High, 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

S. Mundlos, P. Fratzl, G. Duda, 2014, PloS one.

Multiple roles for neurofibromin in skeletal development and growth.

S. Mundlos, P. Fratzl, B. Herrmann, 2007, Human molecular genetics.

Insights into Mesenchymal Stem Cell Aging: Involvement of Antioxidant Defense and Actin Cytoskeleton

G. Duda, C. Perka, J. Kühnisch, 2009, Stem cells.

Somatic neuro fi bromatosis type 1 ( NF 1 ) inactivation events in cutaneous neuro fi bromas of a single NF 1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014 .

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

S. Mundlos, H. Morreau, C. Ott, 2015, PloS one.

Functional Comparison of Chronological and In Vitro Aging: Differential Role of the Cytoskeleton and Mitochondria in Mesenchymal Stromal Cells

G. Duda, J. Adjaye, J. Kühnisch, 2012, PloS one.

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Jefte M. Drijvers, C. Cremers, H. Kremer, 2011, The Journal of clinical endocrinology and metabolism.

Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity*

D. Horn, H. Hennies, T. Maritzen, 2011, The Journal of Biological Chemistry.

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy

J. Kühnisch, F. Berger, E. Oechslin, 2021, Frontiers in Pediatrics.

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators

B. Obermayer, D. Beule, N. Hubner, 2023, bioRxiv.

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis

M. Holtgrewe, D. Beule, D. Messroghli, 2021, Circulation. Genomic and precision medicine.

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth*

D. Horn, H. Hennies, T. Maritzen, 2014, The Journal of Biological Chemistry.

Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing

D. Horn, B. Tüysüz, J. Kühnisch, 2012, Human mutation.

Feasibility and quality development of biomaterials in the pretest studies of the German National Cohort

J. Linseisen, C. Meisinger, U. Nöthlings, 2014, Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz.

Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite.

S. Mundlos, P. Fratzl, J. Kühnisch, 2011, Journal of structural biology.

[Two German Birth Cohorts: GINIplus and LISAplus].

J. Heinrich, J. Ring, O. Herbarth, 2012, Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz.

Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy.

D. Messroghli, T. Kuehne, J. Kühnisch, 2021, International journal of cardiology.