Results 31 to 40 of about 718 (127)

Additional file 1 of Comprehensive analysis of the differences between left- and right-side colorectal cancer and respective prognostic prediction

open access: yes, 2022
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

open access: yesMolecular Genetics & Genomic Medicine, 2019
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

open access: yes, 2003
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

Genome-wide association analysis of thirty one production, health, reproduction and body conformation traits in contemporary U.S. Holstein cows

open access: yesBMC Genomics, 2011
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

Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus–Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency

open access: yes, 2007
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

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
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

Epigenetic Regulation of the BDNF Gene by Molybdenum in 9 to 11‐Year‐Old Children: A Targeted Gene DNA Methylation Study

open access: yesMolecular Nutrition &Food Research, Volume 70, Issue 5, 12 March 2026.
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]

open access: yes, 2018
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

open access: yes, 2010
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

Data_Sheet_1_A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.docx

open access: yes, 2023
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

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