Results 61 to 70 of about 839,572 (264)

A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Clinical and Translational Medicine
Background Short stature (SS) is a common growth disorder with multiple aetiologies. Variants in the MMP13 gene can result in varying degrees of SS, typically accompanied by pronounced skeletal abnormalities.
Huifei Lu, Xin Feng, Suping Dai, Yilin Zhu, Ke Yuan, Yonghua Chen, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang   +9 more
doaj   +1 more source

Human diseases caused by homozygous PTH1R mutations

Frontiers in Endocrinology
The parathyroid hormone receptor type 1 (PTH1R) is a G protein-coupled receptor that mediates the actions of parathyroid hormone (PTH) in the regulation of blood calcium levels, as well as PTH-related protein (PTHrP) in the regulation of skeletal ...
Ignacio Portales-Castillo, Jakob Höppner, Harald Jüppner, Harald Jüppner, Thomas J. Gardella   +4 more
doaj   +1 more source

Identification of the plant mitochondrial OrfX protein: A mass spectrometry approach

FEBS Letters, EarlyView.
The mitochondrial genome of plants contains an open reading frame, orfx, which encodes a rare protein that has so far escaped mass spectrometric detection. The protein resembles the c‐subunit of bacterial twin‐arginine‐motif‐dependent protein translocases (TatC).
Matthias Döring, Jan de Jonge, Hans‐Peter Braun, Nils Rugen   +3 more
wiley   +1 more source

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

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse

Disease Models & Mechanisms, 2020
The muscular dystrophy X-linked (mdx) mouse is commonly used as a mouse model of Duchenne muscular dystrophy (DMD). Its phenotype is, however, mild, and other mouse models have been explored.
Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten   +11 more
doaj   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

Molecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce, Simone Bini, Marialuisa Sponziello, Giorgio Grani, Giulia Fiscon, Paola Paci, Lorenzo Farina, Rosa Falcone, Valentina Maggisano, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti   +11 more
wiley   +1 more source

Growth Plate Senescence and Catch-Up Growth [PDF]

, 2011
Longitudinal bone growth is rapid in prenatal and early postnatal life, but then slows with age and eventually ceases. This growth deceleration is caused primarily by a decrease in chondrocyte proliferation, and is associated with other structural, functional, and molecular changes collectively termed growth plate senescence.
Julian C, Lui, Ola, Nilsson, Jeffrey, Baron   +2 more
openaire   +2 more sources

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Engineered extracellular vesicles enriched with the miR‐214/199a cluster enhance the efficacy of chemotherapy in ovarian cancer

Molecular Oncology, EarlyView.
Loss of the miR‐214/199a cluster is associated with recurrence in ovarian cancer. Engineered small extracellular vesicles (m214‐sEVs) elevate miR‐214‐3p/miR‐199a‐5p in tumor cells, suppress β‐catenin, TLR4, and YKT6 signaling, reprogram tumor‐derived sEV cargo, reduce chemoresistance and migration, and enhance carboplatin efficacy and survival in ...
Weida Wang, Ayesha Alvero, Yi Qin, Mingjin Wang, Alexandra Fox, Yanfeng Li, Michael Millman, Amy Kemper, Gil Mor, Xian Shuang Liu, Michael Chopp, Zheng Gang Zhang, Yi Zhang   +12 more
wiley   +1 more source