Results 161 to 170 of about 276,679 (267)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Oral Lesions Developed in Post-Hematopoietic Stem Cell Transplant Patients and the Role of Cryogun Cryotherapy. [PDF]

Clin Exp Dent Res
Lu PH, Liu KYP, Ng SP, Poh CF.
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Increasing TET Expression and 5‐Hydroxymethylcytosine Formation by a Carbocyclic 5‐Aza‐2′‐deoxy‐cytidine Antimetabolite

Angewandte Chemie, EarlyView.
The carbocyclic Decitabine analog (cAzadC) incorporates as an antimetabolite weakly into the genome of growing tumor cells, where it triggers a genome‐wide demethylation and a surprisingly strong hydroxymethylation of cytosine, which translates into an efficient in vivo antitumor (AML) effect.
Maike Däther, Elsa Peev, Annika Fröhlich, Binje Vick, Sogol Fatourechi, Gilles Gasparoni, Matthias Heiss, Corinna C. Pleintinger, Emmanuel Asu Bisong, Hans Hurmiz, Davide Guglielminotti, Yasmin V. Gärtner, Tina Aumer, Karsten Spiekermann, Jörn Walter, Irmela Jeremias, Franziska R. Traube, Thomas Carell   +17 more
wiley   +2 more sources

Adenovirus-Associated Opsoclonus After Allogeneic Hematopoietic Stem Cell Transplantation. [PDF]

EJHaem
Miyajima T, Hoshino S, Nojima S, Shiratori S, Iwanami T, Teshima T.   +5 more
europepmc   +1 more source

Evaluating Nutritional Support in Pediatric Hematopoietic Stem Cell Transplantation

, 2015
Malnutrition is a common problem after pediatric hematopoietic stem cell transplantation (HSCT) which can lead to further complications, poor outcomes, and increased costs.
Schoening, Anne, Greene, Rachael, Wichman, Christopher   +2 more
core  

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome: A review and a case report. [PDF]

Clin Hematol Int
Nagae K, Muranushi H, Nannya Y, Maeda T.
europepmc   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source

Unraveling the Role of Zonulin in Allogeneic Hematopoietic Stem Cell Transplantation: A Multicenter Study. [PDF]

Int J Mol Sci
Soares Ferreira Junior A, Linares Silva N, Alvarez DAN, da Silva Souza L, Machado LD, Rodrigues da Silva BF, Yoshio Hirai W, Mesquita Ciconelli R, Piccolo Feliciano JV, Colturato I, Maurício Navarro Barros G, Scheinberg P, de Oliveira GLV.   +12 more
europepmc   +1 more source