Results 91 to 100 of about 2,408,361 (302)

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease.
Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz   +9 more
doaj   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Necrotizing fasciitis of the neck: case presentation [PDF]

, 2017
Necrotizing fasciitis represents a severe and rare infectious disease, which is accompanied by extended necrosis of subcutaneous tissues and fascia layers, having as a result gangrene of the teguments.
Domuta, Maria, Marginean, Emil, Pantis, Alina, Popescu, Bogdan, Scăunașu, Razvan V, Sorban, Ildiko, Valenas, Oana, Venter, Ciprian   +7 more
core   +4 more sources

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Establishment of a humanized patient‐derived xenograft mouse model of high‐grade serous ovarian cancer for preclinical evaluation of combination immunotherapy

Molecular Oncology, EarlyView.
We have established a humanized orthotopic patient‐derived xenograft (Hu‐oPDX) mouse model of high‐grade serous ovarian cancer (HGSOC) that recapitulates human tumor–immune interactions. Using combined anti‐PD‐L1/anti‐CD73 immunotherapy, we demonstrate the model's improved biological relevance and enhanced translational value for preclinical ...
Luka Tandaric, Line Bjørge, Martine Rott Lode, Cecilie Fredvik Torkildsen, Pia Aehnlich, Rammah Elnour, Daniela Elena Costea, Lars Andreas Akslen, Liv Cecilie Vestrheim Thomsen, Emmet McCormack, Katrin Kleinmanns   +10 more
wiley   +1 more source

Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice

Molecular Therapy: Methods & Clinical Development
Pompe disease (PD) is a multisystemic progressive disease caused by acid-alpha glucosidase (GAA) deficiency. Patients display a spectrum of phenotypes ranging from the severe, rapidly progressive infantile-onset PD (IOPD) form to the slower progressing ...
Kelly George, Raquel Riley, Shan Zhou, Elizabeth Allen, Laurie Smith, Elena Kistanova, Sofia Kinton, Lilu Guo, Dinesh Bangari, Ayman Ismail, Jayaprakash Thummapudi, Fawzi Boumezbeur, Erwan Selingue, Dorothée Tamarelle, Cecile Capdevila, Tuan-Minh Do, Dominique Lesuisse, Nina Leksa, Pablo Sardi, Arjan van der Flier   +19 more
doaj   +1 more source

A Rare Primary Pelvic Hydatid Cyst Presenting as Sciatica [PDF]

, 2012
Primary hydatid cyst in the pelvis is rare, and usually presents with pressure symptoms affecting the adjacent abdominal organs. We describe a rare hydatid cyst which was eroding the sacral hallow, protruding into the right sciatic foramen and presenting
Bafna, UD, Devi, UK, Rathod, PS, Reddihalli, PV   +3 more
core  

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity. [PDF]

, 2017
Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease
Ciacci, Joseph D, Upadhyayula, Pavan S, Yang, Jason, Yue, John K   +3 more
core   +3 more sources

Cell‐cycle‐specific lesion evolution rather than inhibition of double‐strand‐break repair underpins cisplatin radiosensitization

Molecular Oncology, EarlyView.
We analyze cisplatin–DNA adducts (CDAs) and double‐strand breaks (DSBs) in a cell‐cycle‐dependent manner. We find that CDAs form similarly across all cell cycle phases. DSBs arise only in S‐phase. CDAs might not directly impair DSB repair, but S‐phase DSB lesions evolve in the presence of CDAs and disrupt repair in G2, also causing radiosensitization ...
Ye Qiu, Xixi Lin, Emil Mladenov, Veronika Mladenova, Jürgen Thomale, Ali Sak, Yao Wang, Yunxuan Deng, Eleni Gkika, Martin Stuschke, George Iliakis   +10 more
wiley   +1 more source

Primary Renal Lymphoma Presenting as End-Stage Renal Disease. [PDF]

, 2017
Primary renal lymphoma is a rare entity, even more so in children. Children with primary renal lymphoma present with variable clinical features such as constitutional signs and symptoms, acute kidney injury, palpable abdominal masses, and gross hematuria.
Butani, Lavjay, Ducore, Jonathan
core   +3 more sources