Results 101 to 110 of about 298,609 (342)

Commentary of Article 9 of the Rome I Regulation

Patrick Kinsch
openaire   +2 more sources

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

The Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

The miR-139-5p regulates proliferation of supratentorial paediatric low-grade gliomas by targeting the PI3K/AKT/mTORC1 signalling [PDF]

, 2018
Paediatric low-grade gliomas (pLGGs) are a heterogeneous group of brain tumours associated with a high overall survival: however, they are prone to recur and supratentorial lesions are difficult to resect, being associated with high percentage of disease
Antonelli, Manila, Badiali, Manuela, Besharat, Zein Mersini, Capper, David, Carai, Andrea, Catanzaro, Giuseppina, Chiacchiarini, Martina, Ferretti, Elisabetta, Giangaspero, Felice, Locatelli, Franco, Marras, Carlo Efisio, Mascelli, Samantha, Mastronuzzi, Angela, Miele, Evelina, Po, Agnese, Raso, Alessandro, Schrimpf, Daniel, Stichel, Damian, Tartaglia, Marco, von Deimling, Andreas   +19 more
core   +1 more source

A multifaceted interplay between hemophagocytosis, IL‐18 and type I IFN distinguishes Still disease from other autoinflammatory diseases

Arthritis &Rheumatology, Accepted Article.
Objectives The unknown pathophysiology and the lack of specific features for systemic Juvenile Idiopathic arthritis and adult‐onset Still disease (collectively Still disease/SD) delays diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory diseases ...
Yvonne M. Mueller, Charlotte Girard, Harmen J. G. van de Werken, Stefan J. Erkeland, Dwin G.B. Grashof, Laurie Vaillant, Renske J.H. den Dekker, Iris van Zuijen, Sharon Veenbergen, Fanny Coffin, Eric Bindels, Yvan Jamilloux, Katerina Laskari, ImmunAID consortium, Vassili Soumelis, Bruno Fautrel, Cem Gabay, Peter D. Katsikis   +17 more
wiley   +1 more source

Divergent lncRNAs take the lead on pluripotent cell differentiation [PDF]

, 2016
[No abstract ...
Ballarino, Monica, Rosa, Alessandro
core   +1 more source

Selected Abstracts of the 12th International Workshop on Neonatology; Cagliari (Italy); October 19-22, 2016

Journal of Pediatric and Neonatal Individualized Medicine, 2016
Selected Abstracts of the 12th International Workshop on Neonatology • 10 P PEDIATRICS: NOTES FOR THE FUTURE • Cagliari (Italy) • October 19th-22nd, 2016 ABS 1. ABNORMAL FETAL GROWTH ALTERS THE METABOLIC PROFILE OF EARLY HUMAN MILK • A. Kontogeorgou,
--- Various Authors
doaj   +1 more source

Selected Abstracts of the 4th International Congress of UENPS; Athens (Greece); December 11th-14th 2014

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Selected Abstracts of the 4th International Congress of UENPS • Athens (Greece) • December 11th-14th 2014 The Congress has been organized by the Union of European Neonatal and Perinatal Societies (UENPS).
--- Various Authors
doaj   +1 more source

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source