Results 151 to 160 of about 320,075 (264)

Phenotypic Divergence of JAG1‐ and NOTCH2‐Associated Alagille Syndrome & Disease‐Specific NOTCH2 Variant Classification Guidelines

Liver International, Volume 45, Issue 9, September 2025.
ABSTRACT Background & Aims Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease‐causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely ...
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Kathleen M. Loomes, David A. Piccoli, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Lorenzo D'Antiga, Emanuele Nicastro, Florence Lacaille, Dominique Debray, Étienne M. Sokal, Tanguy Demaret, Rima L. Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Björn Fischler, Henrik Arnell, Catherine Larson‐Nath, Winita Hardikar, Sahana Shankar, Shikha S. Sundaram, Alexander Chaidez, Pinar Bulut, Pier Luigi Calvo, Mureo Kasahara, Niviann Blondet, Eberhard Lurz, Anna‐Maria Kavallar, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Noelle H. Ebel, Jeffrey A. Feinstein, Susan M. Siew, Michael O. Stormon, Saul J. Karpen, Rene Romero, M. Kyle Jensen, Catalina Jaramillo, James E. Squires, Sarah M. Bedoyan, Deirdre A. Kelly, Jane Hartley, Henkjan J. Verkade, Way Seah Lee, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Henry C. Lin, Nathalie Rock, Yael Mozer‐Glassberg, Amin J. Roberts, Helen M. Evans, Wikrom Karnsakul, Gabriella Nebbia, Victorien M. Wolters, Pamela L. Valentino, Jesus Quintero Bernabeu, Amal A. Aqul, Cigdem Arikan, María Legarda Tamara, Cristina Molera Busoms, Thomas Damgaard Sandahl, Giuseppe Indolfi, Andréanne N. Zizzo, Aglaia Zellos, Ruben E. Quiros‐Tejeira, Ermelinda Santos‐Silva, Kathleen B. Schwarz, Jernej Brecelj, Maria Camila Sanchez, Maria Lorena Cavalieri, Christos Tzivinikos, Sabina Wiecek, John Eshun, Nanda Kerkar, Quais Mujawar, Zerrin Önal, Cristina Gonçalves, Jennifer Garcia, Seema Alam, Carolina Jimenez‐Rivera, Luis Bujanda, Richard J. Thompson, Bettina E. Hansen, Nancy B. Spinner, Melissa A. Gilbert, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +91 more
wiley   +1 more source

Analysis of the mechanical behaviour of an 11.5 T Nb/sub 3/Sn LHC dipole magnet according to the ring collar concept [PDF]

, 1992
A. den Ouden, Herman H.J. ten Kate, D. ter Avest, W. van Emden, C. Daum   +4 more
openalex   +1 more source

CO2‐Dependent Promotion of Photosynthesis Drives Metabolic Photoacclimation in Chlamydomonas reinhardtii

Physiologia Plantarum, Volume 177, Issue 5, September/October 2025.
ABSTRACT Light and inorganic carbon (Ci) drive photosynthesis, which fuels cellular maintenance, energy storage, and growth in photosynthetic organisms. Despite its pivotal role, how primary metabolism adjusts to contrasting light and Ci availability in algae remains elusive.
Ana Pfleger, Erwann Arc, Thomas Roach
wiley   +1 more source

Plants maximise chloride uptake during early vegetative development to stimulate cell expansion, maturation of the photosynthetic apparatus, and growth

The Plant Journal, Volume 123, Issue 5, September 2025.
SUMMARY Despite being an essential micronutrient and its recent classification as a beneficial macronutrient, chloride (Cl−) has traditionally been considered of limited agricultural relevance and a potentially toxic saline ion. This study provides the first comprehensive demonstration of the quantitative and qualitative importance of Cl− during early ...
Procopio Peinado‐Torrubia, Juan D. Franco‐Navarro, Marta Lucas, David Romero‐Jiménez, Francisco J. Moreno‐Racero, Pablo Díaz‐Rueda, Miguel A. Rosales, Marika Lindahl, Antonio Díaz‐Espejo, Rosario Álvarez, José Manuel Colmenero‐Flores   +10 more
wiley   +1 more source

Muon Physics at Run-I and its upgrade plan

EPJ Web of Conferences, 2015
The Large Hadron Collider (LHC) and its multi-purpose Detector, ATLAS, has been operated successfully at record centre-of-mass energies of 7 and TeV.
Benekos Nektarios Chr.
doaj   +1 more source

Physicists want 1996 link-up with LHC [PDF]

, 1993
Colin Macilwain
openalex   +1 more source

Design Nicht‐Fluorierter, Schwach Koordinierender Elektrolyt‐ Lösungsmittel mit erhöhter Oxidativer Stabilität

Angewandte Chemie, Volume 137, Issue 35, August 25, 2025.
Silizium‐basierte Lösungsmittel werden als nachhaltigere, schwach koordinierende Elektrolyte systematisch evaluiert. Für eine durch theoretische Berechnungen als geeignet identifizierte Molekularstruktur sowie Referenzlösungsmittel werden die Koordinationsumgebungen und deren Korrelation mit elektrochemischen Eigenschaften bei verschiedenen ...
Lennart Wichmann, Adil Aboobacker, Steffen Heuvel, Felix Pfeiffer, Robert‐Tobias Hinz, Frank Glorius, Isidora Cekic‐Laskovic, Diddo Diddens, Martin Winter, Gunther Brunklaus   +9 more
wiley   +1 more source

Pile up management at the high-luminosity LHC and introduction to the crab-kissing concept

Physical Review Special Topics. Accelerators and Beams, 2014
Upgrading the integrated performance of the LHC, while preserving the quality of the physics data delivered to the experiments, is a real challenge for the high luminosity LHC (HL-LHC).
Stéphane Fartoukh
doaj   +1 more source

Does Europe need the LHC? [PDF]

, 1991
Peter Aldhous
openalex   +1 more source

Monolithic read-out electronics for the silicon calorimeters at SSC/LHC colliders [PDF]

, 1991
A. Gola, G. Pessina, P.G. Rancoita, G. Terzi   +3 more
openalex   +1 more source