Results 191 to 200 of about 52,373 (299)

Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. [PDF]

Neuromuscul Disord, 2022
Shelton GD, Minor KM, Vieira NM, Kunkel LM, Friedenberg SG, Cullen JN, Guo LT, Zatz M, Mickelson JR.   +8 more
europepmc   +1 more source

Not Missing the Notch: Detection Challenges of Juxtamembrane NOTCH1 Variant Detection in T‐Cell Acute Lymphoblastic Leukemia

Journal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Activating mutations in NOTCH1 are frequent in T‐cell acute lymphoblastic leukemia (T‐ALL) and, in the absence of alterations in RAS or PTEN, are associated with favorable prognosis. Besides classical heterodimerization and PEST domain mutations, juxtamembrane internal tandem duplications (JME‐ITDs) represent a third class of ...
Francisco Beas, Stephan Hutter, Ferran Balbastre‐Úbeda, Sandra Novoa‐Jáuregui, Maria Gabarrós‐Subirà, Eulalia Genescà, Petri Pölönen, Torsten Haferlach, Andrés Jerez   +8 more
wiley   +1 more source

Late steps of allelic break-induced replication suppress tandem duplication associated with BRCA1 deficiency. [PDF]

Nucleic Acids Res
Huang ZC, Feng YL, Liu Q, Chen RD, Liu SC, Wang M, Xie AY.   +6 more
europepmc   +1 more source

Clinical Efficacy and Safety of Topical Roflumilast in Psoriasis: An Updated Systematic Review and Meta‐Analysis of Randomized Controlled Trials

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Traditional first‐line topical treatments for plaque psoriasis, particularly corticosteroids and vitamin D analogs, frequently have only limited efficacy for long‐term use, and present difficulties with safety and adherence. Objectives In this systematic review and meta‐analysis of randomized controlled trials (RCTs), we assessed ...
Aimal A. Khattak, Ahmed Javed, Ummi Aiman Rahman, Rumaisa Riaz, Zeeshan Imtiaz, Hassan A. Mirza, Farman U. Khan, Muhid Khattak, Fatima Javid, Abdul Moiz Khan, Adeline L. Roy, Bibek Shrestha   +11 more
wiley   +1 more source

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication. [PDF]

JCI Insight
Adele R, Hussein R, Tavares E, Ahmed K, Di Scipio M, Charish J, Liang M, Monis S, Tumber A, Chen X, Paton TA, Roslin NM, Eileen C, Ivakine E, Sunny NE, Wilson MD, Campos E, Rajala RV, Maynes JT, Monnier PP, Paterson AD, Héon E, Vincent A.   +22 more
europepmc   +1 more source

Effects of preservatives and poisons on the elemental and isotopic composition of freshwater particulate organic matter

Limnology and Oceanography: Methods, EarlyView.
Abstract Sediment traps, often used in tandem with preservatives or poisons, are widely used for the collection of particulate organic matter (POM), providing insight into the source to sink mechanisms that shape major biogeochemical cycles and sedimentary carbon sequestration.
Diana Velazquez, Nathan D. Sheldon, Jenan J. Kharbush   +2 more
wiley   +1 more source

A novel TRKB-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation. [PDF]

NPJ Precis Oncol
Brown LM, Tax G, Acera Mateos P, de Weck A, Foresto S, Robertson T, Jalud F, Ajuyah P, Barahona P, Mao J, Dolman MEM, Wong M, Mayoh C, Cowley MJ, Lau LMS, Sadras T, Ekert PG.   +16 more
europepmc   +1 more source

The high-quality Pinellia pedatisecta genome reveals a key role of tandem duplication in the expansion of its agglutinin genes. [PDF]

Hortic Res, 2023
Qian Z, Ding J, Li Z, Chen J.
europepmc   +1 more source

STRUCTURE OF THE Rr TANDEM DUPLICATION IN MAIZE

Genetics, 1971
H K, Dooner, J L, Kermicle
openaire   +3 more sources

Homogenous Cell Transplantation Trials in Parkinson's Disease: A Systematic Review and Meta‐Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The transplantation of homogenous cells has emerged as an investigational strategy for Parkinson's disease (PD), offering an alternative to symptomatic treatment. Objective We performed a systematic review and meta‐analysis to assess its clinical efficacy and safety.
Nolan Reinisch, Athena Mancini, Adham Elsherbini, Jason Yuen, Andres Lozano   +4 more
wiley   +1 more source