Results 31 to 40 of about 255,645 (319)

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +1 more source

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

, 2008
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Hirano, R., Fujita, Y., Kanemura, Y., Deguchi, K., Sloan, E.A., Clewing, J.M., Lou, S., Choi, K., Powell, R., Northrop, J., Elizondo, L.I., Inoue, K., SantaCruz, K., Boerkoel, C.F., Huang, C., Willaime-Morawek, S., van der Kooy, D., Marwedel, K.M., Okano, H., Armstrong, D.L., Lucke, T.   +20 more
core   +1 more source

Diagnosis of oral potentially malignant disorders: Overview and experience in Oceania

Frontiers in Oral Health, 2023
The diagnosis and management of oral potentially malignant disorders (OPMD) should be the same the world over, but there are important nuances in incidence, aetiological factors, and management opportunities that may lead to differences based on ...
Alison M. Rich, Haizal M. Hussaini, Muhammad Aiman Mohd Nizar, Ratu Osea Gavidi, Elizabeth Tauati-Williams, Muhammed Yakin, Benedict Seo   +6 more
doaj   +1 more source

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
core  

Simultaneous intratracheal administration of surfactant and budesonide in the prevention of bronchopulmonary dysplasia in the treatment of respiratory distress syndrome in premature infants

, 2023
Background: Premature birth is an important issue in developing and developed countries. The purpose of this study is to investigate the effect of budesonide and surfactant in the treatment of respiratory distress syndrome and the prevention of ...
Norouzi, Elahe, Aminyan Daryasari, Arezoo, Maleki, Mahsa, Farhanian, Fahimeh, Kashaki, Mandana   +4 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Challenges in the implementation of a high-resolution anoscopy clinic for people with HIV in an oncologic center in Mexico City

AIDS Research and Therapy
Background Anal cancer incidence is increased in people with HIV (PWH), up to 60 times higher in men who have sex with men, and almost 15 times higher among women with HIV.
Patricia Volkow, Salim Barquet-Muñoz, Naomi Jay, Maria-José Mendoza, Paulina Moctezuma, Mariel Morales-Aguirre, Delia Pérez-Montiel, Víctor Larraga, Alexandra Martin-Onraet   +8 more
doaj   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Cleidocranial dysplasia [PDF]

Sudanese Journal of Paediatrics, 2019
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 ...
Stepan, Kutilek, Roman, Machytka, Petr, Munzar   +2 more
openaire   +2 more sources

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source