Results 31 to 40 of about 718 (127)
Additional file 1: Fig. S1. (A) Kaplan-Meier survival analysis of ten hub genes (KNG1, CYP11A1, SMPD1, DAND5, NKPD1, RP11-59D5_B.2, CTD-2184C24.2, RP11-680F8.3, RP11-51F16.9, CTD-2012K14.8) in L_cancer patients between high-expression and low-expression ...
Mengye Niu (14175995) +12 more
core +1 more source
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes.
Barbara Scelsa +5 more
doaj +1 more source
Analyse der Mausgene MOCS1 und Sox15
In dieser Arbeit wurden die Funktionen der Mausgene, MOCS1 und Sox15, untersucht. Molybdän Cofaktor-Defizienz ist eine seltene und schwere autosomal-rezessive Krankheit beim Menschen, für die keine Therapie ...
Lee, Heon-Jin +5 more
core +1 more source
Background Genome-wide association analysis is a powerful tool for annotating phenotypic effects on the genome and knowledge of genes and chromosomal regions associated with dairy phenotypes is useful for genome and gene-based selection.
Van Tassell Curtis P +10 more
doaj +1 more source
Molybdenum cofactor (MoCo) deficiency is a progressive neurological disorder that inevitably leads to early childhood death because of the lack of any effective therapy. In a mouse model of MoCo deficiency type A, the most frequent form of this autosomal
S. Kügler +7 more
core +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
This study examined associations between molybdenum (Mo) status and DNA methylation of the brain‐derived neurotrophic factor (BDNF) gene in children aged 9–11 years. Dietary Mo intake was estimated from food records, and creatinine‐adjusted urinary Mo levels were quantified.
Margaret A. Voss +7 more
wiley +1 more source
An Analysis of the effects of Mocs1 upregulation on lifespan in Drosophila melanogaster [PDF]
Molybdenum-cofactor biosynthesis protein 1 catalyzes the first step in the synthesis of molybdenum cofactor (Moco), which is conserved across taxa and present both in prokaryotes and in eukaryotes.
Lee, Michael
core
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
International audienceAll molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum ...
Jochen Reiss +3 more
core +1 more source
BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with ...
Suzanne Ratko +13 more
core +1 more source

