170 research outputs found
Imaging detection of CO 2 using a bispectral type-II superlattice infrared camera
Abstract Bispectral infrared (IR) cameras provide additional spectral information in contrast to common monospectral devices, which merely measure the integrated intensity of IR radiation. A bispectral IR camera has been manufactured from InAs/GaSb type-II superlattices. The two detector channels range from 3 -4 µm and 4 -5 µm, respectively. Thus, this camera is very sensitive to the spectral signature of carbon dioxide at approximately 4.3 µm and can be used for remote imaging of CO2
MACC1 regulates clathrin-mediated endocytosis and receptor recycling of transferrin receptor and EGFR in colorectal cancer
Metastasis Associated in Colon Cancer 1 (MACC1) is a novel prognostic, predictive and causal biomarker for tumor progression and metastasis in many cancer types, including colorectal cancer. Besides its clinical value, little is known about its molecular function. Its similarity to SH3BP4, involved in regulating uptake and recycling of transmembrane receptors, suggests a role of MACC1 in endocytosis. By exploring the MACC1 interactome, we identified the clathrin-mediated endocytosis (CME)-associated proteins CLTC, DNM2 and AP-2 as MACC1 binding partners. We unveiled a MACC1-dependent routing of internalized transferrin receptor towards recycling. Elevated MACC1 expression caused also the activation and internalization of EGFR, a higher rate of receptor recycling, as well as earlier and stronger receptor activation and downstream signaling. These effects are limited by deletion of CME-related protein interaction sites in MACC1. Thus, MACC1 regulates CME and receptor recycling, causing increased growth factor-mediated downstream signaling and cell proliferation. This novel mechanism unveils potential therapeutic intervention points restricting MACC1-driven metastasis
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts.
Thus, far few adult-aged patients with ARID1B-related disorder have been described, which
limits our understanding of the disease’s natural history and our ability to counsel patients
and their families.
Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through
an online questionnaire completed by clinicians and parents.
Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged
from borderline to severe intellectual disability. Patients identified through the genetic workup of
their child were either mosaic or had a variant in exon 1. New clinical features identified in this
population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could
travel alone by public transport. Facial photo analysis showed that patients’ photographs
taken at different ages clustered consistently, separate from matched controls.
Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the
medical aspects requiring attention. To address the changing medical needs with increasing age,
we have formulated recommendations to promote timely intervention in an attempt to mitigate
disease progression
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression
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