Results 61 to 70 of about 69,773 (297)
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Dust Traps in the Protoplanetary Disk MWC 758: Two Vortices Produced by Two Giant Planets? [PDF]
, 2019 Resolved ALMA and VLA observations indicate the existence of two dust traps in the protoplanetary disc MWC 758. By means of two-dimensional gas+dust hydrodynamical simulations post-processed with three-dimensional dust radiative transfer calculations, we
Alarcon, Felipe +11 more
core +6 more sources
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
, 2014 We present a method to characterize the spatial coherence of soft X-ray radiation from a single diffraction pattern. The technique is based on scattering from non-redundant arrays (NRA) of slits and records the degree of spatial coherence at several ...
Bach, J. +18 more
core +1 more source
Chasing the observational signatures of seed black holes at z > 7: Candidate statistics [PDF]
, 2018 Supermassive black holes (SMBHs) of 109–1010M were already in place ∼13 Gyr ago, at z > 6. Super-Eddington growth of low-mass BH seeds (∼100M) or less extreme accretion on to∼105M seeds have been recently considered as the main viable routes to these ...
Graziani, Luca +5 more
core +1 more source
Animal Models and Experimental Medicine, EarlyView.7,12‐Dimethylbenz[a]anthracene (DMBA) could induce leukemia and other types of cancers in rat models. Transcriptomics revealed gene expression profile that parallels with human leukemia. DMBA‐induced differential gene expression could validate the developed rat model.
Khaldoon Alsamman, Omar S. El‐Masry
wiley +1 more source
A preexisting rare PIK3CA e545k subpopulation confers clinical resistance to MEK plus CDK4/6 inhibition in NRAS melanoma and is dependent on S6K1 signaling [PDF]
, 2018 Combined MEK and CDK4/6 inhibition (MEKi + CDK4i) has shown promising clinical outcomes in patients with NRAS- mutant melanoma. Here, we interrogated longitudinal biopsies from a patient who initially responded to MEKi + CDK4i therapy but subsequently ...
Amaria, Rodabe N. +20 more
core +1 more source
Misaligned Accretion Disc Formation via Kozai-Lidov Oscillations [PDF]
, 2019 We investigate the formation and evolution of misaligned accretion discs around the secondary component of a binary through mass transfer driven by Kozai–Lidov (KL) oscillations of the circumprimary disc’s eccentricity and inclination.
Franchini, Alessia +2 more
core +3 more sources
Segmental composition and nerve distribution of the brachial plexus in Galictis cuja
The Anatomical Record, EarlyView.Abstract Galictis cuja is a neotropical mustelid with terrestrial locomotor habits, yet the anatomy of its brachial plexus has remained undescribed. This study characterizes the origin, organization, and distribution of the brachial plexus nerves in 15 adult specimens (30 antimeres).
Natan da Cruz de Carvalho +6 more
wiley +1 more source
Communications MedicineBackground Melanoma is an aggressive form of skin cancer, and patients with NRAS-mutant melanoma face limited treatment options due to the lack of direct NRAS inhibitors.
Valentin Feichtenschlager +16 more
doaj +1 more source