Results 51 to 60 of about 7,351,528 (349)

DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE

Бюллетень сибирской медицины, 2015
Aim: to estimate the frequency of DNMT3A gene exons 18–26 point mutations in acute myeloid leukemia (AML) patients (pts) using target automatic sequencing technique.Material and Methods.
A. V. Vinogradov, A. V. Rezaykin, A. G. Sergeev   +2 more
doaj   +1 more source

Versatile CRISPR/Cas9 Systems for Genome Editing in Ustilago maydis

Journal of Fungi, 2021
The phytopathogenic smut fungus Ustilago maydis is a versatile model organism to study plant pathology, fungal genetics, and molecular cell biology. Here, we report several strategies to manipulate the genome of U.
Sarah-Maria Wege, Katharina Gejer, Fabienne Becker, Michael Bölker, Johannes Freitag, Björn Sandrock   +5 more
doaj   +1 more source

Phase Diagrams of Quasispecies Theory with Recombination and Horizontal Gene Transfer

, 2006
We consider how transfer of genetic information between individuals influences the phase diagram and mean fitness of both the Eigen and the parallel, or Crow-Kimura, models of evolution.
J. Maynard, J.-M. Park, J. F. Crow, K. Jain, M. W. Deem   +4 more
core   +1 more source

Evolution of robustness in digital organisms [PDF]

, 2004
We study the evolution of robustness in digital organisms adapting to a high mutation rate. As genomes adjust to the harsh mutational environment, the mean effect of single Imitations decreases, up until the point where a sizable fraction (up to 30% in ...
Adami, Christoph, Edlund, Jeffrey A.
core   +1 more source

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell, Kavitha Srivatsa, Paola Angelini, Pei‐Chi Kao, Brady Payne, Arlene Naranjo, Sveva Castelli, Miho Kato, Miki Ohira, Ulriche Pöetschger, Yaël Mossé, Lucas Moreno, Meredith S. Irwin, Ramya Ramanujachar, Wendy B. London   +14 more
wiley   +1 more source

Novel mutation in PLP1 gene in an individual with Pelizaeus-Merzbacher disease (PMD) using whole exome sequencing [PDF]

Journal of Epigenetics
Background: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system. This disease is associated with abnormalities of the white matter of the brain and spinal cord.
Nagham Mahdi Hamid Abdollah, Narges Javadzadeh   +1 more
doaj   +1 more source

Structural Evaluation and Conformational Dynamics of ZNF141^T474I Mutation Provoking Postaxial Polydactyly Type A

Bioengineering, 2022
Postaxial Polydactyly (PAP) is a congenital disorder of limb abnormalities characterized by posterior extra digits. Mutations in the N-terminal region of the Zinc finger protein 141 (ZNF141) gene were recently linked with PAP type A. Zinc finger proteins
Yasir Ali, Faisal Ahmad, Muhammad Farhat Ullah, Noor Ul Haq, M. Inam Ul Haq, Abdul Aziz, Ferjeni Zouidi, M. Ijaz Khan, Sayed M. Eldin   +8 more
doaj   +1 more source

Biophysical characterization of histone H3.3 K27M point mutation [PDF]

, 2018
K
Boros-Oláh, Beáta, Hetey, Szabolcs, Karányi, Zsolt, Kuik-Rózsa, Tímea, Li, Qiuzhen, Roszik, Jason, Szabó, Zoltán, Szalóki, Nikoletta, Székvölgyi, Lóránt, Tóth, Katalin Ágnes, Vámosi, György   +10 more
core   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Identification and Functional Characterization of P159L Mutation in in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5) [PDF]

Genomics & Informatics, 2014
Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion.
Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Park   +5 more
doaj   +1 more source