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A variant W chromosome in Centromochlus heckelii (Siluriformes, Auchenipteridae) and the role of repeated DNA in its heteromorphism.
Genet Mol Biol
January 2025
Instituto Nacional de Pesquisas da Amazônia, Programa de Pós-Graduação em Genética, Conservação e Biologia Evolutiva (PPG GCBEv), Manaus, AM, Brazil.
Centromochlus heckelii has the lowest diploid chromosome number (2n = 46) and the only described heteromorphic sex chromosome system in Auchenipteridae. This study presents a population of C. heckelii from the Central Amazon basin with subtle variations in the karyotype composition and a variant W chromosome with distinct morphology and increased C-positive heterochromatin content.
View Article and Find Full Text PDFExocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFCiliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.
Semin Ophthalmol
January 2025
Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.
Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.
Axillary Lymph Node Metastasis in Papillary Thyroid Carcinoma at Early Perioperative Period: Report of a Case and Review of the Literature.
Acta Med Indones
October 2024
Akdeniz University, Faculty of Medicine, Department of General Surgery, 07070, Antalya, Turkey.
A 36-year-old woman with a history of neck swelling was diagnosed with papillary thyroid carcinoma, a common but typically slow-growing thyroid cancer with a good prognosis. Despite frequent lymph node metastasis, mortality rates are low. This cancer can rarely spread to unusual areas like the axillary region.
View Article and Find Full Text PDFA Noncatalytic Cysteine Residue Modulates Cobalamin Reactivity in the Human B Processing Enzyme CblC.
Biochemistry
January 2025
Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg im Breisgau 79106, Germany.
Human CblC catalyzes the indispensable processing of dietary vitamin B by the removal of its β-axial ligand and an either one- or two-electron reduction of its cobalt center to yield cob(II)alamin and cob(I)alamin, respectively. Human CblC possesses five cysteine residues of an unknown function. We hypothesized that Cys149, conserved in mammals, tunes the CblC reactivity.
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