Results 91 to 100 of about 517,834 (299)

Genetic alterations in gliosarcoma and giant cell glioblastoma [PDF]

, 2015
The majority of glioblastomas develop rapidly with a short clinical history (primary glioblastoma IDH wild-type), whereas secondary glioblastomas progress from diffuse astrocytoma or anaplastic astrocytoma.
ANTONELLI, MANILA, Capper, David, GIANGASPERO, FELICE, Kleihues, Paul, Mittelbronn, Michel, Nonoguchi, Naosuke, Oh, Ji Eun, Ohgaki, Hiroko, Ohta, Takashi, Paulus, Werner, Pierscianek, Daniela, Satomi, Kaishi, Sure, Ulrich, Vital, Anne   +13 more
core   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Copy number variation across European populations.

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +1 more source

Genetic Analyses in Small for Gestational Age Newborns [PDF]

, 2018
Context: Small for gestational age (SGA) can be a result of fetal growth restriction, associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood.
Abu-Amero, S., Alders, M., Aleman-Charlet, C., Alvizi, L., Baird, W., Demetriou, C., Hennekam, R.C., Henneman, P., Ishida, M., James, C., Kamp, G.A., Knegt, L.C., Leon, L.J., Mannens, M.M.A.M., Moore, G.E., Mul, A.N., Nibbering, N.A., Peskett, E., Plotz, F.B., Post, J.A.M. van der, Rezwan, F.I., Ris-Stalpers, C., Solanky, N., Stalman, S.E., Stanier, P., Wit, J.M.   +25 more
core   +1 more source

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations [PDF]

, 2019
BackgroundRecent advances in genomic technologies have facilitated genome-wide investigation of human genetic variations. However, most efforts have focused on the major populations, yet trio genomes of indigenous populations from Southeast Asia have ...
Bhak, Jong, Deng, Lian, Farhang, Aghakhanian, Hoh, Boon-Peng, Hoque, Mohammad Zahirul, Kumar, Subbiah Vijay, Liu, Chang, Lou, Haiyi, Lu, Dongsheng, Marshall, Christian R., Ong, Rick Twee-Hee, Phipps, Maude E., Scherer, Stephen W., Teo, Yik-Ying, Thiruvahindrapuram, Bhooma, Thuhairah, Abdul Rahman, Wong, Lai-Ping, Xie, Bo, Xu, Shuhua, Xu, Wanxing, Yew, Chee-Wei, Zhang, Xiaoxi   +21 more
core   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Genetics in Medicine Open
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify
Conghui Wang, Panlai Shi, Hongbin Liang, David S. Cram, Donald A. Leigh, Xiangdong Kong   +5 more
doaj   +1 more source