Results 41 to 50 of about 353,887 (261)
Novel GANAB variants associated with polycystic liver disease
Orphanet Journal of Rare Diseases, 2020 Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB variants.
Liyanne F. M. van de Laarschot +8 more
doaj +1 more source
Non-equilibrium phase transitions in tubulation by molecular motors [PDF]
Phys. Rev. Lett. 102, 118109 (2009), 2008 The extraction of membrane tubes by molecular motors is known to play an important role for the transport properties of eukaryotic cells. By studying a generic class of models for the tube extraction, we discover a rich phase diagram. In particular we show that the density of motors along the tube can exhibit shocks, inverse shocks and plateaux ...
arxiv +1 more source
Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
Molecular Cytogenetics, 2018 Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV ...
Thomas Liehr +15 more
doaj +1 more source
Capturing electron-driven chiral dynamics in UV-excited molecules [PDF]
, 2023 Molecular chirality is a key design property for many technologies including bioresponsive imaging, circularly polarized light detection and emission, molecular motors and switches. Imaging and manipulating the primary steps of transient chirality is therefore central for controlling numerous physical, chemical and biological properties that arise from
arxiv +1 more source
Probing weakly-bound molecules with nonresonant light [PDF]
Phys. Rev. Lett. 103, 053003 (2009), 2009 We show that weakly-bound molecules can be probed by "shaking" in a pulsed nonresonant laser field. The field introduces a centrifugal term which expels the highest vibrational level from the potential that binds it. Our numerical simulations applied to the Rb$_2$ and KRb Feshbach molecules indicate that shaking by feasible laser pulses can be used to ...
arxiv +1 more source
Human Mutation, 2019 Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods.
Mubeen Khan +19 more
semanticscholar +1 more source
Computational Simulation of Adapter Length-Dependent LASSO Probe Capture Efficiency
Biomolecules, 2019 Multiplexed cloning of long DNA sequences is a valuable technique in many biotechnology applications, such as long-read genome sequencing and the creation of open reading frame (ORF) libraries.
Jingqian Liu +8 more
doaj +1 more source
Probe Ferroelectricity by X-ray Absorption Spectroscopy in Molecular Crystal [PDF]
Phys. Rev. Materials 4, 034401 (2020), 2019 We carry out X-ray absorption spectroscopy experiment at oxygen K-edge in croconic acid (C5H2O5) crystal as a prototype of ferroelectric organic molecular solid, whose electric polarization is generated by proton transfer. The experimental spectrum is well reproduced by the electron-hole excitation theory simulations from configuration generated by ab ...
arxiv +1 more source
Hard X-ray helical dichroism of disordered molecular media [PDF]
, 2022 Chirality is a structural property of molecules lacking mirror symmetry that has strong implications in diverse fields, ranging from life to materials sciences. Established spectroscopic methods that are sensitive to chirality, such as circular dichroism (CD), exhibit weak signal contributions on an achiral background.
arxiv +1 more source
Molecular probe technology detects bacteria without culture
BMC Microbiology, 2012 Background Our ultimate goal is to detect the entire human microbiome, in health and in disease, in a single reaction tube, and employing only commercially available reagents.
Hyman Richard W +9 more
doaj +1 more source