Results 31 to 40 of about 76,929 (243)

An mTOR Signaling Modulator Suppressed Heterotopic Ossification of Fibrodysplasia Ossificans Progressiva

Stem Cell Reports, 2018
Summary: Fibrodysplasia ossificans progressiva (FOP) is a rare and intractable disorder characterized by extraskeletal bone formation through endochondral ossification.
Kyosuke Hino, Chengzhu Zhao, Kazuhiko Horigome, Megumi Nishio, Yasue Okanishi, Sanae Nagata, Shingo Komura, Yasuhiro Yamada, Junya Toguchida, Akira Ohta, Makoto Ikeya   +10 more
doaj   +1 more source

EC-CENTRIC: An Energy- and Context-Centric Perspective on IoT Systems and Protocol Design [PDF]

, 2017
The radio transceiver of an IoT device is often where most of the energy is consumed. For this reason, most research so far has focused on low power circuit and energy efficient physical layer designs, with the goal of reducing the average energy per ...
Biason, Alessandro, Kelly, Mark, Pielli, Chiara, Rossi, Michele, Zanella, Andrea, Zordan, Davide, Zorzi, Michele   +6 more
core   +1 more source

Critical Limitations in Cryogenic Laser Cooling of Solids: Symmetry‐Related Fluorescence Trapping and Condensation‐Induced Parasitic Heating

Advanced Science, EarlyView.
This study uncovers two overlooked bottlenecks in cryogenic laser cooling of solids: symmetry‐driven fluorescence trapping and water vapor condensation. We demonstrate that breaking sample symmetry enhances fluorescence escape, while condensation dominates parasitic heating below 135 K.
Biao Zhong, Jiayi Zhang, Haodong Yang, Lianzhong Deng, Mauro Tonelli, Ercang Luo   +5 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Papel da criocirurgia no tratamento das neoplasias cutâneas do segmento cabeça e pescoço: análise de 1900 casos

Revista do Colégio Brasileiro de Cirurgiões
OBJETIVO: Demonstrar a experiência dos autores na utilização da criocirurgia como tratamento de lesões benignas e malignas da pele e mucosa no segmento cabeça e pescoço.
Antonio Azoubel Antunes, Antonio Pessoa Antunes, Polliana Vilaça Silva   +2 more
doaj   +1 more source

Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis

BMC Musculoskeletal Disorders, 2020
Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by extraskeletal heterotopic ossification. It is well recognized that FOP can lead to a devastating condition of disability.
Dunmin She, Ran Li, Ping Fang, Guannan Zong, Ying Xue, Keqin Zhang   +5 more
doaj   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Myeloproliferative disorder FOP-FGFR1 fusion kinase recruits phosphoinositide-3 kinase and phospholipase Cγ at the centrosome

Molecular Cancer, 2008
Background The t(6;8) translocation found in rare and agressive myeloproliferative disorders results in a chimeric gene encoding the FOP-FGFR1 fusion protein.
Tassin Anne-Marie, Chevrier Véronique, Lelièvre Hélène, Birnbaum Daniel   +3 more
doaj   +1 more source

FOP is a centriolar satellite protein involved in ciliogenesis. [PDF]

PLoS ONE, 2013
Centriolar satellites are proteinaceous granules that are often clustered around the centrosome. Although centriolar satellites have been implicated in protein trafficking in relation to the centrosome and cilium, the details of their function and ...
Joanna Y Lee, Tim Stearns
doaj   +1 more source

New Spontaneous Model of Fibrodysplasia Ossificans Progressiva [PDF]

, 2008
We report the first known example of spontaneous, naturally occurring fibrodysplasia ossificans progressiva (FOP) in a mammal. The Southeast Asian mouse deer of the genus _Tragulus_ (Artiodactyla: Tragulidae) have an osseous sheath covering the lower ...
Bruce Rothschild, Larry Martin, Robert Timm   +2 more
core   +1 more source