Results 161 to 170 of about 72,857 (290)

Mononuclear phagocyte-specific cGAS/STING targeting suppresses experimental choroidal neovascularization. [PDF]

JCI Insight
Shi L, Cherukaraveedu D, Cho H, Ri K, Zhou L, Cao Y, Kale N, Xu Z, Liyanage W, Kannan RM, Duh EJ.   +10 more
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree. [PDF]

Front Endocrinol (Lausanne)
Zhang D, Li W, Li M, Lu Y, Ning S, Liang X, Xie Y, Qin Y.   +7 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Evangelie en maatschappij E + M ; opinieblad voor kaderleden van het CNV

, 1987
Christelijk Nationaal Vakverbond
core  

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Nicotinamide Mononucleotide Attenuates Inflammatory Activation, Choroidal Neovascularization, and Lesion-Associated Remodeling. [PDF]

Invest Ophthalmol Vis Sci
Wang J, Osada H, Chen S, Yamaguchi S, Hayashi K, Negishi K, Kurihara T, Ban N.   +7 more
europepmc   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

Spatial transcriptomics reveals club cell features and strong CLDN18 expression along the mucinous pathway to invasive mucinous adenocarcinoma

The Journal of Pathology, EarlyView.
Abstract Invasive mucinous adenocarcinoma (IMA) of the lung is a distinct subtype of lung adenocarcinoma with unique clinicopathologic features; however, its histogenesis remains incompletely understood. Although mucinous metaplasia has been suspected as a precursor lesion, direct molecular evidence supporting this progression is limited. In this study,
Joon Young Park, Do Yeon Kim, Hyun Jung Lee, Jung Hee Lee, Hae Ryoun Park, Dong Hoon Shin   +5 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source