Publikationen von Uwe Kornak
Alle Typen
Zeitschriftenartikel (52)
1.
Zeitschriftenartikel
118 (2), e2014481118 (2021)
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 2.
Zeitschriftenartikel
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 3.
Zeitschriftenartikel
103 (5), S. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 4.
Zeitschriftenartikel
176 (9), S. 2028 - 2033 (2018)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 5.
Zeitschriftenartikel
113, S. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 6.
Zeitschriftenartikel
29 (7), S. 1643 - 1651 (2018)
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 7.
Zeitschriftenartikel
176 (3), S. 668 - 675 (2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 8.
Zeitschriftenartikel
14 (3), e1007242 (2018)
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics 9.
Zeitschriftenartikel
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 10.
Zeitschriftenartikel
77 (Suppl.1), S. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 11.
Zeitschriftenartikel
29 (1), S. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 12.
Zeitschriftenartikel
101 (5), S. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 13.
Zeitschriftenartikel
25 (17), S. 3836 - 3848 (2016)
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 14.
Zeitschriftenartikel
170A (4), S. 1080 - 1085 (2016)
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 15.
Zeitschriftenartikel
135 (10), S. 2368 - 2376 (2015)
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 16.
Zeitschriftenartikel
23, 720 (2015)
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics 17.
Zeitschriftenartikel
95 (6), S. 763 - 770 (2014)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 18.
Zeitschriftenartikel
6 (252), 252ra123 (2014)
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 19.
Zeitschriftenartikel
112 (4), S. 310 - 316 (2014)
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molecular Genetics and Metabolism 20.
Zeitschriftenartikel
137 (3), S. 683 - 692 (2014)
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain