Results 261 to 270 of about 248,987 (332)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Leukocyte dynamics in female reproductive health: roles and mechanisms. [PDF]

Ann Med Surg (Lond)
Obeagu EI, Obeagu GU.
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Deep Vein Thrombosis in a Patient With Thalassemia Minor: A Case Report. [PDF]

Clin Case Rep
Basnet A, Acharya B, Shrestha M, Thapa S.   +3 more
europepmc   +1 more source

Principles of transplantation [PDF]

, 1998
Reyes, J, Starzl,
core  

Development of an in situ small intestinal injection technique for targeted macromolecule delivery and in vivo functional studies in mice

Animal Models and Experimental Medicine, EarlyView.
This study developed a minimally invasive, in situ small intestinal injection technique for mice, enabling targeted delivery of bioactive molecules while bypassing gastric degradation. Validation using functional assays and single‐cell RNA sequencing reveals high‐mobility group box 1–mediated epithelial responses, offering a translational tool for gut ...
Yawen Lai, Xintao Zhang, Tingting Luo, Wenhan Chen, Chenyu Ma, Haihua Luo, Jinghua Liu, Jia Xu   +7 more
wiley   +1 more source

Granulocyte elastase as a sensitive diagnostic parameter of silent male genital tract inflammation [PDF]

, 1986
Jochum, Marianne, Pabst, W., Schill, W.-B.   +2 more
core  

Pro‐Inflammatory c‐Met+ CD4 T Cells in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Hepatocyte growth factor (HGF) binds exclusively the c‐Met surface receptor, and the HGF/c‐Met axis regulates T cell function in autoimmune diseases. We analyzed c‐Met expression on human CD4 T cells in the blood and cerebrospinal fluid (CSF) from patients with multiple sclerosis (MS) versus non‐inflammatory neurological disease (NIND), to ...
Gautier Breville, Mahdia Benkhoucha, Ayman Rezk, Ngoc Lan Tran, Isis Senoner, Amit Bar‐Or, Patrice H. Lalive   +6 more
wiley   +1 more source