Results 31 to 40 of about 353,887 (261)

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel Sequencing

J Endocr Soc, 2019
Vishnopolska S, Mortensen A, Braslavsky D, Keselman A, Bergada I, Marino R, Ramirez P, Perez Garrido N, Ciaccio M, Di Palma M, Belgorosky A, Marti M, Kitzman J, Camper S, Perez Millan M.   +14 more
europepmc   +2 more sources

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

Biomolecules, 2023
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well ...
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter   +21 more
doaj   +1 more source

Using population selection and sequencing to characterize natural variation of starvation resistance in Caenorhabditis elegans

eLife, 2022
Starvation resistance is important to disease and fitness, but the genetic basis of its natural variation is unknown. Uncovering the genetic basis of complex, quantitative traits such as starvation resistance is technically challenging.
Amy K Webster, Rojin Chitrakar, Maya Powell, Jingxian Chen, Kinsey Fisher, Robyn E Tanny, Lewis Stevens, Kathryn Evans, Angela Wei, Igor Antoshechkin, Erik C Andersen, L Ryan Baugh   +11 more
doaj   +1 more source

Connector inversion probe technology: a powerful one-primer multiplex DNA amplification system for numerous scientific applications. [PDF]

PLoS ONE, 2007
We combined components of a previous assay referred to as Molecular Inversion Probe (MIP) with a complete gap filling strategy, creating a versatile powerful one-primer multiplex amplification system.
Michael S Akhras, Magnus Unemo, Sreedevi Thiyagarajan, Pål Nyrén, Ronald W Davis, Andrew Z Fire, Nader Pourmand   +6 more
doaj   +1 more source

PathogenMip assay: a multiplex pathogen detection assay. [PDF]

PLoS ONE, 2007
The Molecular Inversion Probe (MIP) assay has been previously applied to a large-scale human SNP detection. Here we describe the PathogenMip Assay, a complete protocol for probe production and applied approaches to pathogen detection.
Michael S Akhras, Sreedevi Thiyagarajan, Andrea C Villablanca, Ronald W Davis, Pål Nyrén, Nader Pourmand   +5 more
doaj   +1 more source

Molecular Orientation-Induced Second Harmonic Generation: deciphering different contributions apart [PDF]

, 2022
We demonstrate and explore an all-optical technique for direct monitoring the orientation dynamics of gas phase molecular ensembles. The technique termed 'MOISH' utilizes the transiently lifted inversion symmetry of polar gas media and provides a sensitive and spatially localized probing of second harmonic generation signal that is directly correlated ...
arxiv   +1 more source

Deep Molecular Dreaming: Inverse machine learning for de-novo molecular design and interpretability with surjective representations [PDF]

Machine Learning: Science and Technology 2, 03LT02 (2021), 2020
Computer-based de-novo design of functional molecules is one of the most prominent challenges in cheminformatics today. As a result, generative and evolutionary inverse designs from the field of artificial intelligence have emerged at a rapid pace, with aims to optimize molecules for a particular chemical property. These models 'indirectly' explore the
arxiv   +1 more source

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

Frontiers in Pediatrics, 2020
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies.
Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen   +37 more
doaj   +1 more source

Velocity map imaging with non-uniform detection: quantitative molecular axis alignment measurements via Coulomb explosion imaging [PDF]

Rev. Sci. Instrum. 86, 073101 (2015), 2015
We present a method for inverting charged particle velocity map images which incoorporates a non-uniform detection function. This method is applied to the specific case of extracting molecular axis alignment from Coulomb explosion imaging probes in which the probe itself has a dependence on molecular orientation which often removes cylindrical symmetry
arxiv   +1 more source

Molecular free energy profiles from force spectroscopy experiments by inversion of observed committors [PDF]

J. Chem. Phys. 151, 154115 (2019), 2019
In single-molecule force spectroscopy experiments, a biomolecule is attached to a force probe via polymer linkers, and the total extension -- of molecule plus apparatus -- is monitored as a function of time. In a typical unfolding experiment at constant force, the total extension jumps between two values that correspond to the folded and unfolded ...
arxiv   +1 more source