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Uschi Lindert · SciRah

Researcher profile · Semantic Scholar

Uschi Lindert

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Uschi Lindert — researcher profile on SciRah

h-index: 11
Works: 16
Citations: 1,058

Most-cited papers

The taste of heavy metals: gene regulation by MTF-1.
V. Günther, Uschi Lindert, W. Schaffner
2012Biochimica et Biophysica Acta347 citations Open access
Semantic Scholar
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
V. Martínez-Glez, María Valencia, J. Caparrós‐Martín, M. Aglan +9 more
2011Human Mutation210 citations Open access
Semantic Scholar
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, S. Tongkobpetch +17 more
2016Nature Communications129 citations Open access
Semantic Scholar
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
I. Kapferer-Seebacher, M. Pepin, Roland Werner, T. Aitman +51 more
2016American Journal of Human Genetics104 citations Open access
Semantic Scholar
Metal-Responsive Transcription Factor 1 (MTF-1) Activity Is Regulated by a Nonconventional Nuclear Localization Signal and a Metal-Responsive Transactivation Domain
Uschi Lindert, M. Cramer, Michael Meuli, O. Georgiev +1 more
2009Molecular and Cellular Biology50 citations Open access
Semantic Scholar
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
T. Van Damme, A. Colige, D. Syx, C. Giunta +11 more
2016Genetics in Medicine44 citations Open access
Semantic Scholar
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta*
Uschi Lindert, M. Weis, J. Rai, F. Seeliger +5 more
2015Journal of Biological Chemistry40 citations Open access
Semantic Scholar
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
C. Giunta, M. Baumann, C. Fauth, Uschi Lindert +26 more
2017Genetics in Medicine34 citations Open access
Semantic Scholar
Genotype–phenotype study in type V osteogenesis imperfecta
M. Balasubramanian, M. Parker, A. Dalton, C. Giunta +6 more
2013Clinical Dysmorphology33 citations
Semantic Scholar
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome
Pei-Jin Lim, Uschi Lindert, L. Opitz, I. Hausser +2 more
2019Genes22 citations Open access
Semantic Scholar
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
Uschi Lindert, M. Gnoli, M. Maioli, M. Bedeschi +3 more
2017Calcified Tissue International18 citations Open access
Semantic Scholar
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Uschi Lindert, M. Kraenzlin, A. Campos‐Xavier, M. Baumgartner +3 more
2015Orphanet Journal of Rare Diseases10 citations Open access
Semantic Scholar
Characterization of Metal‐Responsive Transcription Factor (MTF‐1) from the Giant Rodent Capybara Reveals Features in Common with Human as Well as with Small Rodents (Mouse, Rat). Short Communication
Uschi Lindert, Lucas Leuzinger, Kurt Steiner, O. Georgiev +1 more
2008Chemistry and Biodiversity10 citations Open access
Semantic Scholar
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta
Pei-Jin Lim, Severin Marfurt, Uschi Lindert, L. Opitz +8 more
2021Frontiers in Genetics7 citations Open access
Semantic Scholar
Simian Virus 40 Strains with Novel Properties Generated by Replacing the Viral Enhancer with Synthetic Oligonucleotides
V. Günther, Till Strassen, Uschi Lindert, Patrizia Dagani +4 more
2012Journal of Virology4 citations Open access
Semantic Scholar
First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, S. Tongkobpetch +16 more
20160 citations
Semantic Scholar

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