Results 61 to 70 of about 11,144,186 (305)

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3

, 2021
Osteogenesis imperfecta (OI) represents a complex spectrum of genetic bone diseases that occur primarily due to mutations and deletions of the COL1A1 and COL1A2 genes.
Dalibor Krpan, Matišić, Vid, Antičević, Darko, Kristina Robinson, Petar Brlek, Primorac, Dragan, Swaroop Aradhya, Darko Antičević, Aradhya, Swaroop, Vid Matišić, Krpan, Dalibor, Vilim Molnar, Brlek, Petar, Robinson, Kristina, Molnar, Vilim, Dragan Primorac   +15 more
core   +1 more source

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +1 more source

Discerning protein pools by selective staining with self‐labeling tags

FEBS Letters, EarlyView.
Cell surface proteins have an intra‐ and extracellular pool. Combining genetic fusion to self‐labeling tags that can be addressed with small molecule fluorophores allows separating these pools. We highlight recent developments and techniques for state‐of‐the‐art interrogation of cell surface proteins in the complex tissue setting.
Kati Fischermanns, Johannes Broichhagen
wiley   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

, 2021
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent ...
Giulia Straccia, Clemente Dato, Mariarosa Anna Beatrice Melone, Serenella Servidei, Giorgia Bruno, Alessandro Vaisfeld, Anna De Rosa, Anna Rita Bentivoglio, Daniele Galatolo, Maria Gabriella Vita, Francesco Bove, Filippo Santorelli, Giuseppe De Michele, Martina Petracca, Melissa Barghigiani, Silvio Peluso, Giuseppe Di Iorio, Simone Sampaolo, Pietro Chiurazzi, Alessandra Tessa   +19 more
core   +1 more source

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease [PDF]

Brain, 2001
X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene. In this study we report the clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with CMTX.
O, Dubourg, S, Tardieu, N, Birouk, R, Gouider, J M, Léger, T, Maisonobe, A, Brice, P, Bouche, E, LeGuern   +8 more
openaire   +2 more sources

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source

Familial co-occurrence of diffuse leiomyomatosis and Alport syndrome: a clinical case report

Сеченовский вестник
Alport syndrome (AS) is a hereditary nephropathy caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. Rare contiguous COL4A5–COL4A6 alterations cause AS with diffuse leiomyomatosis (AS-DL).Case report.
М. Boltaboeva, A. Haydarov, M. Ganieva, D. Kholmatov, O. Efimenko, L. Rakhmanova   +5 more
doaj   +1 more source