Results 61 to 70 of about 15,020 (275)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Ultraviolet light irradiation of PM2 superhelical DNA

Nucleic Acids Research, 1977
Superhelical PM2 DNA can be photochemically modified by u.v. irradiation. The variation of S20,w with dose shows the following characteristics. There is a linear increase from 28 to 31s produced by a low dose of u.v. irradiation (4,000 ergs/mm2). A plateau in S20,w occurs between 4,000 and 10,000 ergs/mm2.
M, Woodworth-Gutai, J, Lebowitz, A C, Kato, D T, Denhardt   +3 more
openaire   +3 more sources

Figure S2 from The MDM2/MDMX-p53 Antagonist PM2 Radiosensitizes Wild-Type p53 Tumors

, 2018
Supplemental Figure 2. A) LDH release assay. PM2 and PM2-Scrambled were titrated on to T22 p53 reporter cells and LDH release was measured. The scrambled variant of PM2 has the same amino acid composition as PM2. However the residues that are involved in
Marika Nestor (555081), Diana Spiegelberg (14944107), Anja C. Mortensen (14944110), Sara Lundsten (14944113), David P. Lane (128368), Christopher J. Brown (128374)   +5 more
core   +1 more source

Generic Distributed Shared Memory: the DSM-PM2 Approach

, 2000
This paper describes DSM-PM2, a generic, multi-protocol distributed shared memory library built for PM2, a multithreaded runtime system with preemptive thread migration.
Antoniu, Gabriel, Bougé, Luc, Namyst, Raymond   +2 more
core   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Identification of Powdery Mildew Blumeria graminis f. sp. tritici Resistance Genes in Selected Wheat Varieties and Development of Multiplex PCR

Open Chemistry, 2019
The aim of the study was to identify the Pm2, Pm3a, Pm4b and Pm6 genes and to develop multiplex PCR reaction conditions to reduce time and limit analysis costs. The following molecular markers were used for gene identification: Xcfd81, Whs350 and Xgwm205
Tomkowiak Agnieszka, Skowrońska Roksana, Weigt Dorota, Kwiatek Michał, Nawracała Jerzy, Kowalczewski Przemysław Łukasz, Pluta Mateusz   +6 more
doaj   +1 more source

Long‐Range Interactions in Topological Superconducting Systems: A Mini Review

Advanced Physics Research, EarlyView.
Long‐range interacting quantum systems are surveyed in this review, with an emphasis on the long‐range topological superconductor and its variants. Long‐range interactions decaying in a power‐law manner can lead to exotic phenomena that finds no analogue in short‐range regimes.
Juntong Ren, Haifeng Lü
wiley   +1 more source

Flexible Phase Change Bandage Incorporated With Zeolite for Temperature‐Controlled Wound Hemostasis

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
A novel flexible hemostatic phase change bandage (HPB) was designed and constructed through chemical cross‐linking and electrospinning to mitigate thermal injury and broaden the application of PCMs in the medical field. Furthermore, the flexible HPB shows thermal stability, strong mechanical strength, excellent infiltration, and reliable thermal ...
Xinyu Zhang, Keyan Sun, Hanqing Liu, Shihui Zhang, Yan Kou, Haocheng Fu, Zicheng Lu, Yongfei Zhao, Quan Shi   +8 more
wiley   +1 more source

Association between pregnancy loss and ambient PM2·5 using survey data in Africa: a longitudinal case-control study, 1998–2016

The Lancet Planetary Health, 2019
Summary: Background: Increasing evidence from epidemiological studies suggests that maternal exposure to ambient PM2·5 can increase the risk of pregnancy loss.
Tao Xue, PhD, Tong Zhu, ProfPhD, Guannan Geng, PhD, Qiang Zhang, ProfPhD   +3 more
doaj   +1 more source

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source