Results 41 to 50 of about 237,920 (292)

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, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth   +8 more
doaj   +1 more source

Structure retrieval at atomic resolution in the presence of multiple scattering of the electron probe [PDF]

, 2018
The projected electrostatic potential of a thick crystal is reconstructed at atomic-resolution from experimental scanning transmission electron microscopy data recorded using a new generation fast- readout electron camera.
Allen, Les J., Brown, Hamish G., Chen, Zhen, Ciston, Jim, Findlay, Scott D., Ophus, Colin, Weyland, Matthew   +6 more
core   +2 more sources

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

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, S. S. Cornelis, M. Khan, Duaa Elmelik, Eline Manders, S. Bakker, R. Derks, K. Neveling, M. van de Vorst, C. Gilissen, I. Meunier, S. Defoort, B. Puech, A. Devos, H. L. Schulz, H. Stöhr, F. Grassmann, B. Weber, C. Dhaenens, F. Cremers   +19 more
semanticscholar   +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, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise   +15 more
doaj   +1 more source

A Molecular Einstein Ring at z=4.12: Imaging the Dynamics of a Quasar Host Galaxy Through a Cosmic Lens [PDF]

, 2008
We present high-resolution (0.3") Very Large Array (VLA) imaging of the molecular gas in the host galaxy of the high redshift quasar PSS J2322+1944 (z=4.12).
Bertoldi, Frank, Brewer, Brendon J., Carilli, Christopher L., Cox, Pierre, Lewis, Geraint F., Riechers, Dominik A., Walter, Fabian   +6 more
core   +2 more sources

Quantification and localization of oncogenic receptor tyrosine kinase variant transcripts using molecular inversion probes

Scientific Reports, 2018
Oncogenic membrane receptor tyrosine kinases such as MET and EGFR, or auto-active variants thereof, are important targets for cancer precision therapy.
Corina N. A. M. van den Heuvel, Arvid I. Das, Tessa de Bitter, Femke Simmer, Thomas Wurdinger, Miguel Angel Molina-Vila, William P. J. Leenders   +6 more
doaj   +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, Syukri Shukor, Shuxiang Li, Alfred Tamayo, Lorenzo Tosi, Benjamin Larman, Vikas Nanda, Wilma K. Olson, Biju Parekkadan   +8 more
doaj   +1 more source

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]

, 1994
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini, A Jauch, A. Jauch, B Dutrillaux, B. Horsthemke, C Lengauer, C Lengauer, C Lengauer, C. Lengauer, D Pinkel, G. Senger, H-J Lüdecke, H. -J. L�decke, J Wienberg, J Wienberg, J. Wienberg, JJ Yunis, JW Ijdo, LEM Boer de, M Djalali, M Klever, N. Arnold, P Lichter, R Avarello, R Stanyon, R Stanyon, RA Wells, T Cremer, T Ried, T. Cremer, U Trautmann, U. Claussen, Z Gelman-Kohan   +32 more
core   +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, St Onge Robert P, Kim Hyunsung, Tamaresis John S, Miranda Molly, Aparicio Ana, Fukushima Marilyn, Pourmand Nader, Giudice Linda C, Davis Ronald W   +9 more
doaj   +1 more source

Evidence against a strong thermal inversion in HD 209458 b from high-dispersion spectroscopy [PDF]

, 2015
Broadband secondary-eclipse measurements of hot Jupiters have indicated the existence of atmospheric thermal inversions, but their presence is difficult to determine from broadband measurements because of degeneracies between molecular abundances and ...
Birkby, Jayne, Brogi, Matteo, de Kok, Remco, Schwarz, Henriette, Snellen, Ignas   +4 more
core   +3 more sources