Explanipedia

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene Open

Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Sabal Al Hadidi, Dema Ali , et al. · 2024

(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE)…

Plasma-Treated Electrospun PLGA Nanofiber Scaffold Supports Limbal Stem Cells Open

Hanan Jafar, Khalid Ahmed, Rama Rayyan, Shorouq Sotari, Rula Al Buqain , et al. · 2023

The corneal epithelial layer is continuously replaced by limbal stem cells. Reconstructing this layer in vitro using synthetic scaffolds is highly needed. Poly-lactic-co-glycolic acid (PLGA) is approved for human use due to its biocompatib…

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene Open

Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Sabal Al Hadidi , et al. · 2022

Differential Marker Expression between Keratinocyte Stem Cells and Their Progeny Generated from a Single Colony Open

Dema Ali, Dana Alhattab, Hanan Jafar, Malak Alzubide, Nour Sharar , et al. · 2021

The stemness in keratinocyte stem cells (KSCs) is determined by their gene expression patterns. KSCs are crucial in maintaining epidermal homeostasis and wound repair and are widely used candidates for therapeutic applications. Although se…

Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene Open

Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Nour Sharar , et al. · 2021

Limb-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 fibrobl…

Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan Open

Raida Khalil, Dema Ali, Nesrin Mwafi, Arwa Alsaraireh, Loiy Obeidat , et al. · 2021

Background . Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of…

Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria Open

Nesrin Mwafi, Dema Ali, Raida Khalil, Ibrahim N. Alsbou', Ahmad M. Saraireh · 2021

Alkaptonuria (AKU) is a rare metabolic disease which is inherited as an autosomal recessive trait. It is characterized by the accumulation of homogentisic acid over time in various tissues of the body particularly connective tissues. This …

Anti-oncogenic activities exhibited by paracrine factors of MSCs can be mediated by modulation of KITLG and DKK1 genes in glioma SCs in vitro Open

Nazneen Aslam, Elham Abusharieh, Duaa Abuarqoub, Dema Ali, Dana Alhattab , et al. · 2020

BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan Open

Munir Abu-Helalah, Belal Azab, Rasmi Mubaidin, Dema Ali, Hanan Jafar , et al. · 2020

Familial breast cancer is estimated to account for 15–20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of informa…

Derivation of three human induced pluripotent stem cell lines (JUCTCi014-A, JUCTCi015-A, JUCTCi016-A) from mesenchymal stem cells (MSCs) derived from bone marrow, adipose tissue and Wharton’s jelly samples Open

Nidaa A. Ababneh, Ban Al-Kurdi, Raghda Barham, Dema Ali, Nour Sharar , et al. · 2020

Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene Open

Nidaa A. Ababneh, Dema Ali, Raghda Barham, Ban Al-Kurdi, Nour Sharar , et al. · 2020

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents Open

Nidaa A. Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla Alzibdeh , et al. · 2020

This is the first study to report the identification of a nonsense variant in the APTX gene (c.837G>A; p.W279*) in AOA1 patients within the Jordanian population. This study confirmed the need of WES to assist in the diagnosis of cerebellar…

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subject Open

Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Raghda Barham, Nour Sharar , et al. · 2020

Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene Open

Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham , et al. · 2020

Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene Open

Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham , et al. · 2020

Induced 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 ge…

WITHDRAWN: Anti-Oncogenic Activities Exhibited By Secretomes Of Mesenchymal Stem Cells Are Mediated By Modulation Of KITLG and DKK1 Genes In Glioma Stem Cells. Open

Nazneen Aslam, Elham Abusharieh, Duaa Abuarqoub, Dema Ali, Dana Alhattab , et al. · 2020

Background. Cancer stem cells (CSCs) use their stemness properties such as self renewal, toxicity, plasticity, and communication with the tumor microenvironment (TME) to perpetuate their lineage and survive chemotherapy. Learning how to in…

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi010-A) from a healthy Jordanian female skin dermal fibroblasts Open

Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham , et al. · 2020

Human 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 mark…

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing Open

Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali , et al. · 2020

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 challen…

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. Open

Muawyah Al Bdour, Svenja Pauleck, Zain Dardas, Raghda Barham, Dema Ali , et al. · 2020

This study extends the pathogenic variant spectrum for the RP1 and RLBP1 genes. The study also revealed the consequent clinical progression, severity, and presentation of RP. Furthermore, we confirm that ES is an efficient mo…

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