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Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFBiology of bone mineralization and ectopic calcifications: the same actors for different plays.
Arch Pediatr
September 2024
University of Lyon I; ICBMS, UMR CNRS 5246, F-69622, LYON, France. Electronic address:
Bone has several crucial functions. It is essential for locomotion and allows our body to stand erect against gravity. A mismatch between the mechanical stresses applied to it and its mechanical resistance leads to fractures.
View Article and Find Full Text PDFAntibiotic resistance gene dynamics in the commensal infant gut microbiome over the first year of life.
Sci Rep
August 2024
Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, Oslo, Norway.
Colonization of the infant gut is an important developmental process characterized by high carriage of antimicrobial resistance genes (ARGs) and high abundances of pathobionts. The horizontal transfer of ARGs to pathogenic bacteria represents a major public health concern. However, there is still a paucity of longitudinal studies surveilling ARGs in healthy infant guts at high temporal resolution.
View Article and Find Full Text PDFNasal monobloc osteotomy for correction of late nasal and orbital asymmetry of unicoronal synostosis: A morphometric and outcomes study.
J Plast Reconstr Aesthet Surg
March 2024
Division of Plastic & Reconstructive Surgery, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada. Electronic address:
Background: Craniofacial asymmetry associated with unicoronal synostosis (UCS) may persist into the teenage years despite surgery in infancy. This study evaluated outcomes following a nasal monobloc procedure by mobilizing a united nasomaxillary and bilateral medial orbital segment of bone (nasal monobloc) to perform corrective translational and rotational movement for secondary correction of residual nasal-orbital asymmetry associated with UCS.
Methods: A retrospective review of all UCS patients treated with nasal monobloc at our institution was performed.
Complete genome sequence of sp. L1, a phosphate solubilizing bacterium isolated from rhizosphere.
Front Microbiol
December 2023
School of Food Science, Nanjing Xiaozhuang University, Nanjing, China.
Phosphorus (P) deficiency is a predominant constraint on plant growth in acidified soils, largely due to the sequestration of P by toxic aluminum (Al) compounds. Indigenous phosphorus-solubilizing bacteria (PSBs) capable of mobilizing Al-P in these soils hold significant promise. A novel Al-P-solubilizing strain, Al-P sp.
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