Results 11 to 20 of about 293,232 (165)

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. [PDF]

Ann Clin Transl Neurol, 2023
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in which SLC2A1 is required for growth.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA.   +14 more
europepmc   +2 more sources

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. [PDF]

Ann Clin Transl Neurol, 2023
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial DMT, and persistence/discontinuation of subsequent DMT(s).
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L.   +13 more
europepmc   +2 more sources

Addressing exploitation and inequities in open science: A relational perspective

Developing World Bioethics, Volume 23, Issue 4, Page 331-343, December 2023., 2023
Abstract There are concerns that participation in open science will lead to various forms of exploitation – of researchers and scholars in low‐income countries and under‐resourced institutions. This article defends a contrary thesis and demonstrates the exact ways the underexplored notions of communal relationships, human dignity and social justice ...
Cornelius Ewuoso, Luís Cordeiro‐Rodrigues, Ambroise Wonkam, Jantina de Vries   +3 more
wiley   +1 more source

La metafora: the power of metaphors and creative resources in working systemically with families and children with autism—a conversation with Carmine Saccu

Australian and New Zealand Journal of Family Therapy, Volume 44, Issue 3, Page 393-403, September 2023., 2023
Abstract Metaphors are valuable tools of expression, which give meaning to situations and allow the spontaneous processing of feelings and emotions. As therapists, we can support clients to develop and create their individual metaphor to explain their own meaning of experiences or communicate their perception of problems.
Deisy Amorin‐Woods, Carmine Saccu
wiley   +1 more source

Strategic generosity among local patrons: Place belonging and ethnic exclusion in a transforming lower‐income neighborhood of Tel Aviv

American Anthropologist, Volume 125, Issue 3, Page 570-581, September 2023., 2023
Abstract Working at the intersection of exchange theory, urban anthropology, and ethnic and racial studies, this article offers an original perspective on the role of local patrons’ exchange networks in constructing place belonging during racial urban change.
Tal Shamur
wiley   +1 more source

Framing the benefits of European Union policy expansion on energy efficiency of buildings: A Swiss knife or a Trojan horse

European Policy Analysis, Volume 9, Issue 3, Page 219-243, Summer 2023., 2023
Abstract This paper analyzes through qualitative and quantitative analysis of European Union (EU) policy documents the framing of EU policy on energy‐efficient buildings from the 1970s to 2022. We find that it has been framed in different ways over the decades and the framing has expanded to include more and more benefits.
Fredrik von Malmborg, Martin Björklund, Johan Nordensvärd   +2 more
wiley   +1 more source

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

Muscle &Nerve, Volume 68, Issue 2, Page 157-170, August 2023., 2023
Results from the ongoing NURTURE study demonstrate durability of effect and favorable safety profile of nusinersen in 25 children with two or three SMN2 copies who initiated treatment in the presymptomatic stage of spinal muscular atrophy (SMA). After ~5 y, all children achieved previously unattainable motor milestones, many within normal developmental
Thomas O. Crawford, Kathryn J. Swoboda, Darryl C. De Vivo, Enrico Bertini, Wuh‐Liang Hwu, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Aledie Navas Nazario, Julie A. Parsons, Astrid Pechmann, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloglu, Tawfeg Ben‐Omran, Valeria A. Sansone, Yuh‐Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R. Lago, Angela D. Paradis, Richard Foster, Russell Chin, Zdenek Berger, on behalf of the NURTURE Study Group   +25 more
wiley   +1 more source

p53 expression in cytology samples may represent a marker of early‐stage cancer

Cancer Cytopathology, Volume 131, Issue 6, Page 392-401, June 2023., 2023
Abstract Background TP53 gene plays a major role in the negative control of cell proliferation and in the regulation of signaling cascades. TP53 mutation may have a relevant role in the malignant transformation of thyroid cells as well as thyroid tumor progression.
Federica Policardo, Pietro Tralongo, Damiano Arciuolo, Vincenzo Fiorentino, Lina Cardasciani, Francesco Pierconti, Angela Carlino, Mariangela Curatolo, Alfredo Pontecorvi, Guido Fadda, Carmela De Crea, Celestino Pio Lombardi, Marco Raffaelli, Luigi Maria Larocca, Liron Pantanowitz, Esther Diana Rossi   +15 more
wiley   +1 more source

La metáfora al servicio del melodrama en el relato periodístico de la Transición española

Onomázein Revista de lingüística filología y traducción, 2017
espanolEste trabajo analiza distintas estrategias discursivas empleadas por el periodista Jesus Duva en el reportaje “Los siete dias que hicieron temblar la Transicion”, en el que narra con rasgos propios del melodrama la concatenacion de sucesos que culminaron en las tragicas fechas del 23 y el 24 de enero de 1977, cuando Espana se encontraba en pleno
María Jesús García Domínguez, Gracia Piñero Piñero, Marina Díaz Peralta   +2 more
openaire   +1 more source

SWIP mediates retromer‐independent membrane recruitment of the WASH complex

Traffic, Volume 24, Issue 5, Page 216-230, May 2023., 2023
The WASH complex and the retromer are two endosomal trafficking regulators known to interact with each other, but their mutual coordination is not fully understood. Here we show that the retromer is not required for the F‐actin nucleation promoting activity of the WASH complex, nor is the VPS35‐mediated retromer anchor necessary for the membrane ...
Vojtěch Dostál, Tereza Humhalová, Pavla Beránková, Ondřej Pácalt, Lenka Libusová   +4 more
wiley   +1 more source