Zobrazeno 1 - 10
of 131
pro vyhledávání: '"De Franco, A."'
Autor:
Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
Publikováno v:
American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
© 2021 American Society of Human Genetics
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
Autor:
Elisa De Franco, Miara Riaz, Mehar Yasir, Sarah E. Flanagan, Zubair Khoso, Jamal Raza, Misbah Iqbal Hanif, Taj Muhammad Laghari, Mohsina Noor Ibrahim, Yasir Naqi Khan
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1095-1103
Objectives To review the data of infants and children with suspected monogenic diabetes who underwent genetic testing. Methods Monogenic diabetes is a rare form of diabetes resulting from mutations in a single gene. It can be caused by dominant as we
Autor:
Popi Sifianou, Elisa De Franco, Alice E. Hughes, Evgenia Globa, Dörte Hilgard, Sarah E. Flanagan, Andrew T. Hattersley, Nataliya Zelinska
Publikováno v:
Pediatric Diabetes. 22:876-881
Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of
Autor:
Isabella Pallavicini, Greta Bagnolini, Andrea Balboni, Marinella Roberti, Janet Robertson, Giuseppina Di Stefano, Fulvia Farabegoli, Sebastiano Peri, Jose Antonio Ortega, Saverio Minucci, D. Gioia, Federico Falchi, Domenico Milano, Francesca De Franco, Fabrizio Schipani, Roberto Pellicciari, Andrea Cavalli, Marcella Manerba, Stefania Girotto
Publikováno v:
Journal of Medicinal Chemistry
Synthetic lethality is an innovative framework for discovering novel anticancer drug candidates. One example is the use of PARP inhibitors (PARPi) in oncology patients with BRCA mutations. Here, we exploit a new paradigm based on the possibility of t
Autor:
Nikola Dino Capocchiano, M. Giraffa, Brunella Barbaro, Paola de Franco, Giuditta Chiloiro, Domenico D'Ugo, Sergio Alfieri, Barbara Corvari, E. Meldolesi, Riccardo Manfredi, Maria Antonietta Gambacorta, Claudio Coco, Vincenzo Valentini
Publikováno v:
Clinical and Translational Radiation Oncology, Vol 28, Iss, Pp 1-9 (2021)
Clinical and Translational Radiation Oncology
Clinical and Translational Radiation Oncology
Background: Conservative approach has emerged as an option for the management of rectal cancer (RC) patients with a near or complete clinical response after neoadjuvant chemoradiotherapy (nCRT). The aim of this study is to assess the impact of the co
Autor:
Mariangela Pierantozzi, Alessandro Stefani, Valentino De Franco, Matteo Spanetta, Nicola Biagio Mercuri, Alessandra Di Pucchio, Claudio Liguori, Rocco Cerroni
Publikováno v:
Sleep Medicine. 81:307-311
Non-motor symptoms (NMS) frequently impact health-related quality of life (HRQoL) in patients with Parkinson's Disease (PD). Sleep problems represent one of the main NMS complained by PD patients. In this observation study, sleep problems measured by
Autor:
Carmine De Franco
Publikováno v:
The Journal of Investing. 30:36-50
The author decomposes the variance of stock returns into a fundamental component, proxied by the variance of their earnings; a behavioral component, proxied by the price-to-earnings ratios’ variance; and a joint component. By sorting stocks accordi
Autor:
Ömer Tarım, Yasemin Denkboy Ongen, Ozgecan Demirbas, Elisa De Franco, Sian Ellard, Elif Söbü, Erdal Eren
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 80-87 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Introduction Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to p
Publikováno v:
Physica Medica. 81:264-272
A faster treatment reduces the risk of intra-fraction movement of organs, offers a more comfortable treatment to the patient, allows to treat lesion of larger volumes in a reasonable time and most of all expands the capacity of the facility. This wor
Autor:
Christian Denzer, Elisa De Franco, Marie Celine Otto, Susanne Nusser, Eleni Z Giannopoulou, Martin Wabitsch, Olga Ovcarov, Fabian Kassberger
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:273-276
Objectives Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is n