Results 41 to 50 of about 8,789,133 (312)

A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism

Orphanet Journal of Rare Diseases, 2022
Background Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders ...
Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo, Lizbeth Contreras, Teresa González, María S. Pérez-Poyato, Carmen Valenzuela, Domingo González-Lamuño, Alberto Gandarillas   +8 more
doaj   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Distinct roles of histone H2B ubiquitination at promoters and coding regions of Pol II-transcribed stress genes

Genome Biology
Background The histone code, comprised of diverse histone post-translational modifications, intricately regulates nucleosome organization and gene expression. Histone marks also serve as binding sites for a diverse array of protein complexes and enzymes,
Rubén Barrios, Montserrat Vega, Rebeca Gracia-Domingo, Susanna Boronat, Sarela García-Santamarina, Jason C. Tanny, José Ayté, Elena Hidalgo   +7 more
doaj   +1 more source

Chaperone-Facilitated Aggregation of Thermo-Sensitive Proteins Shields Them from Degradation during Heat Stress

Cell Reports, 2020
Summary: Cells have developed protein quality-control strategies to manage the accumulation of misfolded substrates during heat stress. Using a soluble reporter of misfolding in fission yeast, Rho1.C17R-GFP, we demonstrate that upon mild heat shock, the ...
Margarita Cabrera, Susanna Boronat, Luis Marte, Montserrat Vega, Pilar Pérez, José Ayté, Elena Hidalgo   +6 more
doaj   +1 more source

GST‐IVTT pull‐down: a fast and versatile in vitro method for validating and mapping protein–protein interactions

FEBS Open Bio, 2022
Over the past few decades, dozens of in vitro methods have been developed to map, investigate and validate protein–protein interactions. However, most of these approaches are time‐consuming and labour‐intensive or require specialised equipment or ...
Zsuzsánna Réthi‐Nagy, Edit Ábrahám, Zoltán Lipinszki   +2 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Monitoring cell cycle distributions in MCF-7 cells using near-field photothermal microspectroscopy. [PDF]

, 2005
Microspectroscopic techniques such as Fourier transform infrared (FTIR) have played an important role in "fingerprinting" the biochemical composition of cellular components.
Hewitt, Rebecca, Martin, Francis L., Martin, Francis L, German, Matthew J., Pollock, Hubert M., Hammiche, Azzadine   +5 more
core   +4 more sources

Comparative Drug Response Profiling in Neuroblastoma Cell Lines and Patient‐Derived Tumor Organoids

Pediatric Blood &Cancer, EarlyView.
ABSTRACT High‐risk neuroblastoma remains a leading cause of pediatric cancer mortality, and improved preclinical models are needed to guide therapeutic developments. We screened seven high‐risk neuroblastoma cell lines and three patient‐derived tumor organoids with 528 compounds alongside bone marrow controls, and compared them with external datasets ...
Krzysztof Wierbiłowicz, Se Whee Sammy Park, Aironas Los, Ernest Liu, Nona Struyf, Tom Erkers, Sören Lehmann, Jan J. Molenaar, Jakob Stenman, Olli Kallioniemi, Päivi Östling, Brinton Seashore‐Ludlow, Kasper Karlsson   +12 more
wiley   +1 more source

DEPENDENCE OF CELL-TYPE PROPORTIONING AND SORTING ON CELL CYCLE PHASE IN DICTYOSTELIUM DISCOIDEUM [PDF]

, 1984
The relationship between the cell cycle phase of vegetative amoebae and prestalk and prespore differentiation in the slug stage were investigated in the slime mould Dictyostelium discoideum.
Duschl, Gertrud, Weijer, Cornelis J., David, Charles N.   +2 more
core   +1 more source

Cell Cycle Regulation [PDF]

Fly, 2007
Drosophila researchers met in sunny San Diego for the 49th annual meeting of The Genetics Society of America. It was cold outside and even colder inside. Like last year, ‘Mitosis, Meiosis and Cell Division’ was no longer a session. Instead, we searched out and covered talks and posters in ‘Cell Division and Growth Control’, ‘Gametogenesis ...
Kristin, Garcia, Anita, Wichmann, Tin Tin, Su   +2 more
openaire   +2 more sources