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with Phenotype as keyword

Speech disorder and vocal tremor in postural instability/gait difficulty and tremor dominant subtypes of Parkinson's dis...

Published in Journal of neural transmission (Vienna, Austria : 1996)

Hypokinetic dysarthria is a multidimensional impairment affecting all main speech subsystems with variable patterns and severity across individual Parkinson's disease (PD) patients. We can thus assume that inter-individual abnormal speech patterns are related to the various clinical subtypes of PD with different prominent motor symptoms. The aim of...

Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy.

Published in Parkinsonism & related disorders

The International Parkinson and Movement Disorder Society-endorsed Progressive Supranuclear Palsy Study Group published clinical diagnostic criteria for progressive supranuclear palsy in 2017, aiming to optimize early, sensitive and specific diagnosis. To assist physicians in the application of these criteria, we developed a video-based tutorial in...

Next-generation gene drive for population modification of the malaria vector mosquito, Anopheles gambiae.

A Cas9/guide RNA-based gene drive strain, AgNosCd-1, was developed to deliver antiparasite effector molecules to the malaria vector mosquito, Anopheles gambiae The drive system targets the cardinal gene ortholog producing a red-eye phenotype. Drive can achieve 98 to 100% in both sexes and full introduction was observed in small cage trials within 6...

Phenotypic characteristics of commonly used inbred mouse strains.

Published in Journal of molecular medicine (Berlin, Germany)

The laboratory mouse is the most commonly used mammalian model for biomedical research. An enormous number of mouse models, such as gene knockout, knockin, and overexpression transgenic mice, have been created over the years. A common practice to maintain a genetically modified mouse line is backcrossing with standard inbred mice over several gener...

Assessment of gingival thickness using digital file superimposition versus direct clinical measurements.

Published in Clinical oral investigations

This study was aimed at evaluating the correlation and reproducibility of gingival thickness quantification using digital and direct clinical assessment methods. Patients in need of tooth extraction were allocated into two groups according to the gingival thickness measurement method, either using an endodontic spreader (pre-extraction) or a spring...

Respiratory characteristics and related intraoperative ventilatory management for patients with COVID-19 pneumonia.

Published in Journal of anesthesia

A substantial proportion of patients with coronavirus disease 19 (COVID-19) develop severe respiratory failure. Although the exact pathophysiology of severe COVID-19 pneumonia remains unknown and the characteristics of these patients are heterogeneous, the acute respiratory failure often fulfills criteria for acute respiratory distress syndrome (AR...

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.

Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood In an analysis of brain-specific allele-biased expression, we identified that Trappc9, a cellular trafficking factor, was expressed predominantly (~70%) from the...