Publications by authors named "Raghda Barham"
Article Synopsis
- Charcot-Marie-Tooth disease (CMT) is a genetic condition that impacts the peripheral nervous system.
- A new induced pluripotent stem cell (iPSC) line, JUCTCi018-A, was developed from skin cells of a CMT2EE patient carrying a specific mutation in the MPV17 gene.
- This iPSC line exhibits normal characteristics and pluripotency, making it a useful tool for studying the mechanisms of CMT2EE.*
Article Synopsis
- Mesenchymal stem cells (MSCs) often face high mortality rates after transplantation, making hypoxia pre-conditioning a vital technique to enhance their survival and functionality.
- Induced pluripotent stem cell-derived MSCs (iMSCs) are emerging as a promising alternative, and this study investigated how short-term severe hypoxia (1% O for 24 hours) affects their growth, viability, and differentiation.
- The results showed that while hypoxia negatively impacted iMSCs' proliferation and viability, it might have long-term benefits for their growth and differentiation, indicating a need for further research on the effects of prolonged hypoxia recovery.
Article Synopsis
- The study focuses on regenerating gingival connective tissue using human gingival fibroblasts in three-dimensional fibrin gel scaffolds.
- Fibroblasts showed metabolic activity and growth in both platelet lysate and collagen-stimulating media, with better results in the latter regarding collagen production.
- This research suggests that using collagen-stimulating media in a novel scaffold can create tissue-like constructs useful for treating gum-related issues and advancing future soft tissue regeneration techniques.
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.
View Article and Find Full Text PDFBackground: Neuromuscular disorders (NMDs) encompass a large group of genetic and acquired diseases affecting muscles, leading to progressive muscular weakness. These disorders are frequently inherited in an autosomal-recessive (AR) pattern with extreme heterogeneity and various clinical presentations. Consanguinity increases the likelihood of AR disorders, with high rates of cousin inbreeding in Jordan and other Arab countries.
View Article and Find Full Text PDFLimb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient's skin dermal fibroblasts, carrying a homozygous mutation in the Sarcoglycan Beta (SGCB) gene; chr4:52890221, c. 859 delC, p.
View Article and Find Full Text PDFArticle Synopsis
- Whole Exome Sequencing (WES) was utilized to identify genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs), analyzing DNA from 55 families.
- The study found 35 potential disease-causing variants, including 6 novel and 29 previously known, in a significant portion of the probands (71%).
- This research represents the largest genetic analysis of IRDs in Jordan, demonstrating WES's effectiveness for diagnosing IRDs in large patient groups.
Mesenchymal stem cells (MSCs) are recognized as a valuable source of cells in clinical treatment and tissue engineering applications. In this study, we created human induced pluripotent stem cells (hiPSCs) from different MSC sources to evaluate the capacity of MSC-derived iPSCs to differentiate into any cell type of the human body and to serve as an alternative source for iPSC generation. Here in, the generated hiPSC lines retained their normal karyotype and showed similar STR-based identities to the parental cells.
View Article and Find Full Text PDFInduced pluripotent stem cells (iPSCs) were generated from skin fibroblasts collected from a 39-year-old multiple symmetric lipomatosis (MLS) female patient carrying a point mutation in MFN2 gene (c.2119C > T). The resulting iPSCs showed typical embryonic-like morphology, expressed pluripotency stem cell markers, retained the normal karyotype after reprogramming and showed the potential to differentiate into three germ layers.
View Article and Find Full Text PDFHuman induced pluripotent stem cell line (JUCTCi011-A) was generated from skin fibroblasts obtained from a 34-year-old healthy male subject from Jordan. The generated iPSCs showed typical embryonic-like characteristics. They retained their normal karyotype similar to their parental dermal fibroblast cells, expressed pluripotency markers and showed a differentiation potential into three germ layers as demonstrated by immunostaining and flow cytometry.
View Article and Find Full Text PDFAtaxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for the aprataxin protein. The aprataxin protein has been reported to be involved in DNA single-strand break repair (SSBR) machinery and it localizes to the mitochondria to preserve the mitochondrial function.
View Article and Find Full Text PDFInduced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE).
View Article and Find Full Text PDFHuman integration-free induced pluripotent pluripotent stem cells (hiPSCs) were generated from skin fibroblasts obtained from a 27-year-old healthy Jordanian female. The resulting iPSCs expressed the most common pluripotency stem cell markers, they retained the normal karyotype similar to the original fibroblasts and showed the potential to differentiate into three germ layers in vitro. This iPSC line could serve as a wild-type control that can be used in hereditary disease modeling studies and in optimization of different differentiation protocols.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates genetic variants causing autosomal recessive retinitis pigmentosa (RP) in five consanguineous Jordanian families, focusing on clinical differences among affected individuals.
- - Exome sequencing and clinical tests identified four disease-causing variants in specific genes, including both novel and previously reported mutations, revealing varying clinical manifestations associated with the genetic changes.
- - The findings expand the known pathogenic variants for these genes and support the use of exome sequencing as an effective method for diagnosing RP and understanding its clinical progression.
Background: Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients.
View Article and Find Full Text PDFBackground: Cellular therapy clinical applications require large-scale production of stem cells. Therefore, abundance, ease of isolation, and proliferative potential are the most important factors in choosing the appropriate source of cells for transplantation studies. Multipotent stem cells obtained from periodontal ligament (PDL) can be used in periodontal tissue regeneration.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to identify genetic variants causing inherited retinal dystrophies (IRDs) in two related Jordanian families and analyze the differences in symptoms among affected members.
- - Researchers used whole-exome sequencing and eye exams to find two homozygous deletion variants in the CERKL gene, linked to cone-rod dystrophy (CRD) rather than retinitis pigmentosa (RP).
- - The findings highlight the importance of genetic testing for diagnosing retinopathies and expand knowledge about the genetic causes and effects of CERKL variants.