Results 71 to 80 of about 15,020 (275)

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis. [PDF]

Ann Neurol
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Gagliardi D, Villella C, Zanovello M, Iacobelli V, Corti S, Comi GP, Fratta P, Houlden H, Tucci A, Ronchi D.   +9 more
europepmc   +2 more sources

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

, 2018
Radiotherapy amplifies p53 expression in cancer cells with wild-type (wt) p53. Blocking the negative regulators MDM2 and MDMX stabilizes p53 and may therefore potentiate radiotherapy outcomes.
Brown, CJ, Mortensen, Anja,, Lundsten, Sara,, Nestor, M, Lane, DP, Spiegelberg, Diana,, Lundsten, S, Nestor, Marika,, Lane, David P.,, Spiegelberg, D, Mortensen, AC, Brown, Christopher J.,   +11 more
core   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Mapping and characterization of a novel powdery mildew resistance locus (PM2) in Cannabis sativa L.

Frontiers in Plant Science
IntroductionBreeding genetic resistance to economically important crop diseases is the most sustainable strategy for disease management and enhancing agricultural and horticultural productivity, particularly where the application of synthetic pesticides ...
Soren Seifi, Keegan M. Leckie, Ingrid Giles, Taylor O’Brien, John O. MacKenzie, Marco Todesco, Loren H. Rieseberg, Gregory J. Baute, Jose M. Celedon   +8 more
doaj   +1 more source

DNA-dependent RNA polymerase associated with bacteriophage PM2

, 1972
PM2, a lipid-containing bacteriophage, is the prototype of a new class of bacterial viruses. It has several features common to certain of the lipid-containing animal viruses, among which is an internal lipid bilayer and a glycoprotein as one of the ...
Franklin, Richard M., Datta, Asis, ASIS DATTA, RICHARD M. FRANKLIN   +3 more
core   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Getting started with PM2

, 2008
1.1.1 The PM2 Programming model............................
Olivier Aumage, Luc Bougé, Raymond Namyst, Vincent Danjean, Gabriel Antoniu   +4 more
core  

The M62A mutation in HDM2 does not perturb binding of the stapled peptide PM2.

, 2013
Left: Simulations (see Materials and Methods) indicate packing interactions between M62 (yellow) and hydrophobic staple (cyan) of PM2. Right: Mutation to alanine results in loss of these interactions, but numerous other interactions persist between PM2 ...
Ling Li (38566), Christopher Brown (258061), Larisa Yurlova (408379), Kourosh Zolghadr (408380), David Lane (311623), Farid Ghadessy (311625), Siau Jia Wei (311617), Thomas Joseph (408377), Sharon Chee (487705), Chandra Verma (23219)   +9 more
core   +1 more source

Impact of fine particulate matter air pollution (PM2·5) on Nigerian children’s performance on tests of cognitive and neurobehavioral development at age seven years

Environment International
Background: Elevated exposures to fine particulate matter (PM2·5) air pollution threaten child health and development. Kerosene and biomass cooking fuels are a source of PM2·5 in sub-Saharan Africa.
Susan D. Duncan, Celia Yetunde Adeniyi, Folasayo I. Ayoola, Mihai Giurcanu, Tope Ibigbami, Ryan T. Chartier, Bethann Conover, Mary Nyakato, Dezheng Huo, Oladosu Ojengbede, Adegoke G. Falade, John Olalekan Taiwo, Olatunbosun G. Arinola, Samuel Adekunle, Oluseyi Fatile, Oluwafunmilade Deji-Abiodun, Iyanuoluwa M. Adebanjo, Oluwatimilehin Ojo, Awwal Adetunji Adegoke, Tanimowo Abraham, Oluwayemisi Ajao, Oluwatobiloba T. Olaniyi, Avery I. Rosado, Enioluwaduroti Johnson, Dayo Adepoju, Olusola D. Faleye, Olufadekemi Ajani, Michael J. Boivin, Michael E. Msall, Christopher O. Olopade   +29 more
doaj   +1 more source