Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite [PDF]
, 2021 High-throughput gene expression analysis is widely used. However, analysis is not straightforward. Multiple approaches should be applied and methods to combine their results implemented and investigated.
Córdoba-Caballero, José +9 more
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BMC Medical Genetics, 2019 Background PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG
Zhen Zhang +4 more
doaj +1 more source
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies [PDF]
, 2022 ©. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the, Accepted, version of a Published Work that appeared in final form in Glycobiology.
Alsina, Laia +10 more
core
the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ) [PDF]
, 2022 Funding Information: This work is financed by national funds from FCT—Fundação para a Ciência e a Tecnologia, I.P., in the scope of the project UIDP/04378/2020 and UIDB/04378/2020 of the Research Unit on Applied Molecular Biosciences—UCIBIO and the ...
Brasil, Sandra +6 more
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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1 [PDF]
, 2022 Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms.
Abu Bakar, Nurulamin +22 more
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Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Cell ReportsSummary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic +13 more
doaj +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Pediatric Reports, 2022 Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
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Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano +108 more
wiley +1 more source