List of works - Jirko Kühnisch

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

scientific article

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

scientific article published on 24 April 2019

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

scientific article published on 5 October 2013

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

scientific article published on 9 December 2014

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

scientific article

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing

scientific article published on 01 December 2007

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

scientific article

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

scientific article

Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells

scientific article

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

scientific article

Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton.

scientific article published in June 2009

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

scientific article published on 7 June 2018

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

scientific article

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

scientific article published on 31 July 2008

Molecular markers reveal exclusively clonal reproduction in Trichophyton rubrum

scientific article (publication date: November 1999)

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

scientific article

Multiple roles for neurofibromin in skeletal development and growth

article

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

scientific article

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

scientific article

Neurofibromin (Nf1) is required for skeletal muscle development

scientific article

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models

scientific article published on 17 June 2014

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

scientific article published on 23 July 2019

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

scientific article

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

scientific article published on 22 October 2019

List of works by Jirko Kühnisch

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

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

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

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

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

Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells

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

Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton.

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

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

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

Molecular markers reveal exclusively clonal reproduction in Trichophyton rubrum

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

Multiple roles for neurofibromin in skeletal development and growth

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

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

Neurofibromin (Nf1) is required for skeletal muscle development

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

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

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