[HTML][HTML] Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile …
…, F Haghighi, F Bazgir, J Dahlmann, AV Busley… - Communications …, 2023 - nature.com
Noonan syndrome (NS), the most common among RASopathies, is caused by germline
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including …
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including …
Novel insights in the pathomechanism of Brugada syndrome and fever‐related type 1 ECG changes in a preclinical study using human‐induced pluripotent stem cell …
…, H Dinkel, D Pakalniskyte, AV Busley… - Clinical and …, 2023 - Wiley Online Library
Background Brugada syndrome (BrS) is causing sudden cardiac death (SCD) mainly at young
age. Studying the underlying mechanisms associated with BrS type I electrocardiogram (…
age. Studying the underlying mechanisms associated with BrS type I electrocardiogram (…
[HTML][HTML] Generation of a genetically-modified induced pluripotent stem cell line harboring a Noonan syndrome-associated gene variant MRAS p. G23V
AV Busley, L Cyganek - Stem Cell Research, 2023 - Elsevier
Patients harboring causative gene variants in RAS GTPase MRAS develop Noonan syndrome
and early-onset hypertrophic cardiomyopathy. Here, we describe the generation of a …
and early-onset hypertrophic cardiomyopathy. Here, we describe the generation of a …
Alteration of myocardial structure and function in RAF1-associated Noonan syndrome: Insights from cardiac disease modeling based on patient-derived iPSCs
S Nakhaei-Rad, F Bazgir, J Dahlmann, AV Busley… - bioRxiv, 2022 - biorxiv.org
Noonan syndrome (NS), the most common among the RASopathies, is caused by germline
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, …
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, …
LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
AV Busley, Ó Gutiérrez-Gutiérrez, E Hammer, F Koitka… - bioRxiv, 2023 - biorxiv.org
Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to
develop severe and early-onset hypertrophic cardiomyopathy. However, the underling …
develop severe and early-onset hypertrophic cardiomyopathy. However, the underling …
[HTML][HTML] Generation of a genetically-modified induced pluripotent stem cell line harboring an oncogenic gene variant KRAS p. G12V
AV Busley, M Kleinsorge, L Cyganek - Stem Cell Research, 2023 - Elsevier
Activating KRAS codon 12 gene variants are known to cause severe RAS-MAPK and PI3K-AKT
signaling pathway hyperactivity and are frequently involved in the development of …
signaling pathway hyperactivity and are frequently involved in the development of …
[PDF][PDF] Genotype-Phenotype Correlation in Noonan Syndrome–Focus on LZTR1 and its Substrates
AV Busley - 2023 - ediss.uni-goettingen.de
Noonan syndrome (NS) is a multisystemic disorder that is known as one of the most common
monogenetic diseases associated with early-onset congenital heart defects, such as …
monogenetic diseases associated with early-onset congenital heart defects, such as …
[PDF][PDF] Between the Lands. Alexander Ivashkin: Ambassador for Contemporary Music
E Artamonova - 2017 - clok.uclan.ac.uk
… becoming the artistic director of the Bolshoi Soloists, the ensemble that he formed from some
of the best soloists of the orchestra of the Bolshoi Theatre conducted by Alexander Lazarev. …
of the best soloists of the orchestra of the Bolshoi Theatre conducted by Alexander Lazarev. …
[BOOK][B] Princesses on the Wards: Royal Women in Nursing through Wars and Revolutions
C Hall - 2014 - books.google.com
… Victoria, together with other members of the royal family, reached Sandringham that … Alice
and Alexandra sitting by the prince’s bed. The queen retired for the night, Alice and Alexandra …
and Alexandra sitting by the prince’s bed. The queen retired for the night, Alice and Alexandra …
[BOOK][B] Armory and Lineages of Canada
HG Todd - 2016 - books.google.com
… Married 13 March, 1879, HRH Princess Louise Margaret Alexandra Victoria Agnes of Prussia
born (… Alexander was made Baron of Kirkmichael as a reward for the capture of James, Earl …
born (… Alexander was made Baron of Kirkmichael as a reward for the capture of James, Earl …