Results 251 to 260 of about 2,329,584 (350)

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

open access: yesAmerican 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   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran   +3 more
wiley   +1 more source

Inhibition of AhR improves cortical bone and skeletal muscle function via preservation of neuromuscular junctions. [PDF]

open access: yesJCI Insight
Yu K   +20 more
europepmc   +1 more source

Establishment of a biosafe murine model of skeletal tuberculosis using Mycobacterium smegmatis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study developed a biosafe, accessible, and versatile murine model of bone TB using Mycobacterium smegmatis, a fast‐growing, nonpathogenic mycobacterial species with high genomic homology to Mycobacterium tuberculosis. Three infection routes—subperiosteal calvarial injection, intratibial injection, and intracardiac (left ventricular) inoculation ...
Yewei Jia   +12 more
wiley   +1 more source

Confined B‐Cell Reconstruction and High T‐Cell Clonality Define Clinical Response to Cladribine Treatment

open access: yesAnnals of Neurology, EarlyView.
Cladribine tablets are approved for relapsing multiple sclerosis, mediating their clinical effect by moderately depleting lymphocytes. In a prospective, monocentric study including 22 patients completing 2 annual cycles of cladribine, B‐ and T‐cell receptor repertoires and relapse activity were assessed at baseline and after 24 months. T‐cell clonality
Tilman Schneider‐Hohendorf   +8 more
wiley   +1 more source

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