Scientific Reports, 2022 Anticoagulant rodenticides (AR) remain the most effective chemical substances used to control rodents in order to limit their agricultural and public health damage in both rural and urban environments.
Antoine Rached +6 more
doaj +1 more source
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
, 2022 A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVET.
Manna, Paul T, +11 more
core +1 more source
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
BMC Medical Genetics, 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu +6 more
doaj +1 more source
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]
, 2003 Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P +15 more
core +1 more source
Molecular Medicine, 2023 Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo +5 more
doaj +1 more source
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
A Missense Mutation in CHD4 Disrupts Cardiac Development [PDF]
, 2021 Nearly half of cardiac malformations, the leading cause of infant mortality in the United States, are of unknown etiology. Mutations in the Chromodomain Helicase DNA-binding protein 4 (CHD4), the core catalytic component of the Nucleosome Remodeling and ...
Scialdone, Angelique
core +1 more source
, 2020 Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe.
Ziqin Liu, Xiaobo Chen
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Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]
, 2005 BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG +22 more
core +1 more source
Az öröklött és szerzett kataláz hiány klinikai és klinikai biokémiai vonatkozásai = Clinical and biochemical consequences of inherited and acquired forms of catalase deficiency [PDF]
, 2007 A hidrogénperoxid az élőszervezetekre gyakorolt oxidatív, toxikus hatásáról volt ismert, míg szerepe az újabb irodalmi adatok alapján átértékelődött.
Góth, László +3 more
core +1 more source