Explanipedia

Genetic modulators of diversity in biological expression of sickle cell anemia in patients from democratic republic of Congo Open

Mamy Ngole, Mamy Ngole, Gloire Mbayabo, Paul Kabuyi Lumbala, Valérie Race , et al. · 2024

Background: So far, the fetal hemoglobin (HbF) level is the most recognized modulator of sickle cell anemia (SCA) clinical expression. Variability in the HbF levels is associated with the SCA haplotypes and quantitative trait loci identifi…

Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells Open

Takfarinas Kentache, Charlotte R. Althoff, Francesco Caligiore, Erika Souche, Céline Schulz , et al. · 2024

The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene Open

Takfarinas Kentache, Charlotte R. Althoff, Francesco Caligiore, Erika Souche, Céline Schulz , et al. · 2024

Glycosylation-deficient Chinese hamster ovary (CHO) cell lines have been instrumental in the discovery of N-glycosylation machinery. Yet, the molecular causes of the glycosylation defects in the Lec5 and Lec9 mutants have been elusive, eve…

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Open

Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz, Geoffroy de Bettignies , et al. · 2024

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Open

Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz, Geoffroy de Bettignies , et al. · 2024

N-glycosylation as a eukaryotic protective mechanism against protein aggregation Open

Ramon Duran‐Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P. Wilson , et al. · 2024

The tendency for proteins to form aggregates is an inherent part of every proteome and arises from the self-assembly of short protein segments called aggregation-prone regions (APRs). While posttranslational modifications (PTMs) have been …

Natural history of three late-diagnosed classic Galactosemia patients Open

Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Gomes , et al. · 2024

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonata…

Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study Open

Eva Van Steijvoort, M Cassou, Camille De Schutter, Eftychia Dimitriadou, Hilde Peeters , et al. · 2024

N-glycosylation as a eukaryotic protective mechanism against protein aggregation Open

Ramon Duran‐Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P. Wilson , et al. · 2023

The tendency for proteins to form aggregates is an inherent part of every proteome and arises from the self-assembly of short protein segments called aggregation-prone regions (APRs). While post-translational modifications (PTMs) have been…

Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa Open

Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka, Valérie Race , et al. · 2023

Background : Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to det…

B1MG D3.2 Best practices for Next Generation Sequencing Open

Marta Gut, Gabriela Aguileta, Edwin Cuppen, Valtteri Wirta, Eivind Hovig , et al. · 2023

Determining variants in the genome involves several bioinformatic procedures, such as eliminating low-quality sequences, aligning sequencing reads to the human reference genome, and establishing confidence in the presence of a variant base…

EVALUATE THE USE OF HYDREA IN TREATING CHILDREN WITH SICKLE CELL ANEMIA IN CENTRAL AFRICA'S RURAL AREA Open

Gloire Mbayabo, Paul Kabuyi Lumbala, Mamy Ngole, Aimé Lumaka, Valérie Race , et al. · 2023

Sickle cell anemia is highly prevalent in Central Africa. The disease causes severe manifestations in children requiring treatment. Hydroxyurea is currently the most effective drug treatment. Therefore, we evaluated the use of HU in childr…

Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa Open

Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, Aimé Lumaka, Valérie Race , et al. · 2023

Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile o…

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium Open

Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, Jasper Verguts, Karen Peeraer , et al. · 2023

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa Open

Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka, Valérie Race , et al. · 2022

Background Sickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest…

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report Open

Elodie Lebredonchel, A. Riquet, D. Neut, F. Broly, Gert Matthijs , et al. · 2022

Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia Open

Gloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, Aimé Lumaka, Valérie Race , et al. · 2022

Background Sickle‐cell anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB . DNA testing can help to clarify the diagnosis when Hb electrophoresis is inconclusive. We evaluated the usefulne…

Recommendations for whole genome sequencing in diagnostics for rare diseases Open

Erika Souche, Sergi Beltrán, Erwin Brosens, John W. Belmont, Magdalena Fossum , et al. · 2022

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo Open

Mamy Ngole, Valérie Race, Gloire Mbayabo, Paul Kabuyi Lumbala, Cathy Songo , et al. · 2022

Background Hemoglobin‐based tests form the reference diagnostic test for SCA. In limited resource countries, these tests face limitations including cost, low sensitivity due to recurrent transfusions in endemic malaria region, and interfer…

Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium) Open

Eva Van Steijvoort, Remke Demuynck, Hilde Peeters, Hilde Vandecruys, Jasper Verguts , et al. · 2022

Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X‐linked monogenic condition. Multiple studies have reported on a wide …

CDG or not CDG Open

Hudson H. Freeze, Jaak Jaeken, Gert Matthijs · 2022

sponsorship: National Institute of Diabetes and Digestive and Kidney Diseases, Grant/Award Number: R01DK99551; National Institute of Neurological Disorders and Stroke, Grant/Award Number: U54 NS115198; The Rocket Fund (National Institute o…

Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium) Open

Eva Van Steijvoort, Heleen Devolder, Inne Geysen, Silke Van Epperzeel, Hilde Peeters , et al. · 2022

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Open

Matthew P. Wilson, Zoé Durin, Özlem Ünal, Bobby G. Ng, Thomas Marrecau , et al. · 2022

The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum (ER) membrane.…

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation Open

Eline Blommaert, Н. А. Черепанова, Frederik Staels, Matthew P. Wilson, Reid Gilmore , et al. · 2022

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases Deletion Open

Elodie Lebredonchel, Audrey Riquet, Dorothée Neut, F. Broly, Gert Matthijs , et al. · 2022

Background: Congenital Disorders of Glycosylation (CDG) are a large group of inherited inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized is also the most common, PMM2-CDG, with…

<span>COG6‐CDG</span>: Novel variants and novel malformation Open

Lara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, Domenico Garozzo, Giovanna Mangili , et al. · 2022

Background Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1–8) is characterized by both N‐ and O‐protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (CO…

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Open

Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga , et al. · 2021

B1MG D3.1 - Quality metrics for sequencing Open

Marta Gut, Lucía Estellés, Edwin Cuppen, Valtteri Wirta, Eivind Hovig , et al. · 2021

Next Generation Sequencing (NGS) is becoming increasingly used in clinical settings for the genomic analysis of germline and cancer samples. Hence, there is a need to establish guidelines that cover the minimum quality requirements for the…

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis Open

Luisa Sturiale, Marie‐Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale , et al. · 2021

Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan bi…

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) Open

Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo , et al. · 2021

Gert Matthijs YOU? Author Swipe