Results 61 to 70 of about 266,081 (333)

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Retrospective Analysis of CT-based Habitat Analysis for Predicting pCR and Survival of ESCC Treated by Neoadjuvant Chemoradiotherapy and Esophagectomy

Technology in Cancer Research & Treatment
Introduction This study sought to develop a predictive model using CT-based habitat radiomics to forecast pathological complete response (pCR) and progression-free survival (PFS) in esophageal squamous cell carcinoma (ESCC) patients receiving ...
Shujun Zhang MS, Wei-Xiang Qi MD, Feng Wang MD, Yibin Zhang MS, Jiayi Chen MD, Shengguang Zhao MD   +5 more
doaj   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Data sets of very large linear feasibility problems solved by projection methods [PDF]

, 2011
We give a link to a page on the Web on which we deposited a set of eight huge Linear Programming (LP) problems for Intensity-Modulated Proton Therapy (IMPT) treatment planning. These huge LP problems were employed in our recent research and we were asked
Chen, Wei
core  

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 more
wiley   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Proton beam therapy [PDF]

, 2018
Ob kirurškem in sistemskem zdravljenju je radioterapija eden od treh stebrov zdravljenja raka. Izjemen tehnološki razvoj na področju pospeševalnikov nabitih delcev je pripeljal do uveljavitve protonske radioterapije kot terapije izbora pri določenih ...
Casar, Božidar, Strojan, Primož
core   +1 more source

Exploring Patients’ Profiles Associated With the Resolution of Acute Calcium Pyrophosphate Arthritis Treated With Colchicine and Prednisone: Post Hoc Analysis of a Randomized Controlled Trial

Arthritis Care &Research, EarlyView.
Objective The objective was to identify factors determining acute arthritis resolution and safety with colchicine and prednisone in acute calcium pyrophosphate (CPP) crystal arthritis. Methods We conducted a post hoc analysis of the COLCHICORT trial, which compared colchicine and prednisone for the treatment of acute CPP crystal arthritis, using a ...
Tristan Pascart, Laurène Norberciak, Pascal Richette, Pierre Robinet, Aurore Pacaud, Gauthier Marchasson, Thibault Rabin, Hélène Luraschi, Pierre Maciejasz, Anne‐France Georgel, Augustin Latourte, Hang‐Korng Ea, Sébastien Ottaviani, Charlotte Jauffret, Vincent Ducoulombier   +14 more
wiley   +1 more source

Proton beam therapy is a safe and feasible treatment for patients with second primary lung cancer after lung resection

Thoracic Cancer, 2019
Background The purpose of the present study was to retrospectively evaluate the safety and efficacy of proton beam therapy (PBT) in patients with second primary lung cancer after lung resection.
Takashi Ono, Tatsuya Nakamura, Yusuke Azami, Motohisa Suzuki, Hitoshi Wada, Yasuhiro Kikuchi, Masao Murakami, Kenji Nemoto   +7 more
doaj   +1 more source