This page has only limited features, please log in for full access.

Ms. Eman Rabie
National Research Centre, Dokki, Cairo, Egypt

Basic Info


Research Keywords & Expertise

0 Gene editing
0 Mutation analysis
0 Medical Molecular Genetics
0 genodermatoses
0 Human genetic disorders

Honors and Awards

The user has no records in this section


Career Timeline

The user has no records in this section.


Short Biography

The user biography is not available.
Following
Followers
Co Authors
The list of users this user is following is empty.
Following: 0 users

Feed

Journal article
Published: 20 February 2021 in Genes
Reads 0
Downloads 0

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies.

ACS Style

Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes 2021, 12, 295 .

AMA Style

Eman Rabie, Khalda Amr, Suher Zada, Heba El-Sayed, Mohamad El Darouti, Ghada El-Kamah. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes. 2021; 12 (2):295.

Chicago/Turabian Style

Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah. 2021. "Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins." Genes 12, no. 2: 295.

Preprint content
Published: 18 January 2021
Reads 0
Downloads 0

Scarless genome editing is an important tool for the accurate recapitulation of genetic variation in human disease models. Various CRISPR/Cas9-based scarless editing methods have been reported. However, some of these methods have low editing efficiency (1-5%) and require manual selection of hundreds of clones to reach the desired number. Other protocols use large selection cassettes with laborious vector assembly and specialized reagents and equipment, or have poorly understood off-target effects. To address these limitations, we developed a simple, highly efficient scarless editing strategy to edit DNA sequences in induced pluripotent stem cells, which we call CRISPR Del/Rei. This novel editing strategy consists of a two-step deletion-reinsertion strategy that produces isogenic clones in ~8 weeks using accessible, user-friendly reagents. The editing efficiency ranges from ~15–100% for Step 1 and ~5–20% for Step 2 after selection, which greatly reduces the amount of required manual clone isolation. Screening the transfected bulk cells and the individual clones is rapid and simple, consisting of PCR and gel electrophoresis. Despite the two editing steps, off-target effects are rare. Additionally, the experiment is well-controlled because the same protocol generates isogenic clones carrying all variant alleles. In this way, CRISPR Del/Rei serves as a valuable addition to the evolving CRISPR/Cas9 gene-editing toolset.

ACS Style

Marah H. Wahbeh; Kyra L. Feuer; Sara Abdollahi; Christian Yovo; Eman Rabie; Anh-Thu N. Lam; Lindsay J. Young; Dimitrios Avramopoulos. CRISPR Del/Rei: A simple, flexible and efficient pipeline for scarless genome editing. 2021, 1 .

AMA Style

Marah H. Wahbeh, Kyra L. Feuer, Sara Abdollahi, Christian Yovo, Eman Rabie, Anh-Thu N. Lam, Lindsay J. Young, Dimitrios Avramopoulos. CRISPR Del/Rei: A simple, flexible and efficient pipeline for scarless genome editing. . 2021; ():1.

Chicago/Turabian Style

Marah H. Wahbeh; Kyra L. Feuer; Sara Abdollahi; Christian Yovo; Eman Rabie; Anh-Thu N. Lam; Lindsay J. Young; Dimitrios Avramopoulos. 2021. "CRISPR Del/Rei: A simple, flexible and efficient pipeline for scarless genome editing." , no. : 1.

Original article
Published: 20 December 2020 in Molecular Genetics & Genomic Medicine
Reads 0
Downloads 0

Background Hemophilia A (HA) is an inherited X‐linked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype also a hotspot exon 14 provides numerous mutational patterns. This study aims to identify F8 gene mutations among Egyptian HA patients. Methods DNA samples from 60 HA patients were screened for int22 and int1 rearrangements using simplified inverse shifting PCR (IS‐PCR) followed by exon 14 sequencing. Also, four uncharacterized patients were studied by targeted exome sequencing. Results In 33.3% of the studied patients, we identified three int22 rearrangements, three exon 14 mutations (two frameshift; one novel (NM_000132.3:c.2734_2735delAA, p.(N912Ffs*6)), a second reported mutation (NM_000132.3:c.3091_3094delAGAA, p.(K1031Lfs*9)), and one nonsense mutation (NM_000132.3:c.2440C>T, p.(R814*)). All identified mutations were detected in patients with severe HA phenotype. Targeted exome sequencing could not detect any known pathogenic variants. Conclusion Intron 22 rearrangement and exon 14 mutations correlate with most severe hemophilia A Egyptian patients.

ACS Style

Rehab M. Mosaad; Khalda S. Amr; Eman A. Rabie; Naglaa O. Mostafa; Sonia A. Habib; Ghada Y. El‐Kamah. Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients. Molecular Genetics & Genomic Medicine 2020, 9, e1575 .

AMA Style

Rehab M. Mosaad, Khalda S. Amr, Eman A. Rabie, Naglaa O. Mostafa, Sonia A. Habib, Ghada Y. El‐Kamah. Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients. Molecular Genetics & Genomic Medicine. 2020; 9 (2):e1575.

Chicago/Turabian Style

Rehab M. Mosaad; Khalda S. Amr; Eman A. Rabie; Naglaa O. Mostafa; Sonia A. Habib; Ghada Y. El‐Kamah. 2020. "Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients." Molecular Genetics & Genomic Medicine 9, no. 2: e1575.

Journal article
Published: 01 September 2020 in Gene Reports
Reads 0
Downloads 0
ACS Style

Khalda Amr; Hala Bassyouni; Eman Rabie; Abeer Selim; Moushira E. Zaki; Eman Abobakr Abd Alazem; Shereen El-Shaer; Sahar Rady; Doaa Salah. A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome. Gene Reports 2020, 20, 1 .

AMA Style

Khalda Amr, Hala Bassyouni, Eman Rabie, Abeer Selim, Moushira E. Zaki, Eman Abobakr Abd Alazem, Shereen El-Shaer, Sahar Rady, Doaa Salah. A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome. Gene Reports. 2020; 20 ():1.

Chicago/Turabian Style

Khalda Amr; Hala Bassyouni; Eman Rabie; Abeer Selim; Moushira E. Zaki; Eman Abobakr Abd Alazem; Shereen El-Shaer; Sahar Rady; Doaa Salah. 2020. "A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome." Gene Reports 20, no. : 1.

Journal article
Published: 09 October 2019 in Open Access Macedonian Journal of Medical Sciences
Reads 0
Downloads 0

BACKGROUND: Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children. AIM: This study aims to determine the mutation of NPHS2 in children with NS and discover the role of p.R229Q variant in SRNS METHODS: The study included 53 children with NS, and 53 healthy volunteers matched in age and sex controls. The median age at disease onset was 7.3 years. Among NS cases, 31 cases had steroid-sensitive nephrotic syndrome (SSNS) and 22 children with steroid-resistant nephrotic syndrome (SRNS). Polymerase chain reaction amplification of the whole coding region of NPHS2 gene was carried out for its mutational analysis. Restriction digestion testing was carried out after PCR to determine the presence of R229Q polymorphism. Randomly selected samples were re-genotyped by two independent technicians for assessment of Quality control RESULTS: NS patients showed a significant higher frequency of heterozygous genotype GA (89.5%) compared to control group (10.5%) with increased risk of NS (OR, 12.04; 95% CI, 2.61 to55.38; p < 0.0001). Moreover, SRNS showed a significant higher frequency of GA genotype (68.2%) than the SSNS group (6.5%). The GA genotype was associated with increased risk of SRNS (OR, 31.1; 95% CI, 5.73 to 168.48; P < 0.001) and the A allele was associated with increased risk of SRNS (OR, 15.52; 95% CI, 3.325 to 72.422; P < .001). CONCLUSION: R229Q polymorphisms are associated with SRNS, and any child with SRNS should be searched for mutations in the NPHS2 gene.

ACS Style

Moushira Zaki; Shreen El-Shaer; Sahar Rady; Manal Abd El-Salam; Ragaa Abd-El-Salam; Ibrahim Abdelfattah Alkashlan; Mohamed Saber; Sanaa Mohamed; Mohamed Hassaan; Eman Rabie; Khalda Amr. Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. Open Access Macedonian Journal of Medical Sciences 2019, 7, 3145 -3148.

AMA Style

Moushira Zaki, Shreen El-Shaer, Sahar Rady, Manal Abd El-Salam, Ragaa Abd-El-Salam, Ibrahim Abdelfattah Alkashlan, Mohamed Saber, Sanaa Mohamed, Mohamed Hassaan, Eman Rabie, Khalda Amr. Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. Open Access Macedonian Journal of Medical Sciences. 2019; 7 (19):3145-3148.

Chicago/Turabian Style

Moushira Zaki; Shreen El-Shaer; Sahar Rady; Manal Abd El-Salam; Ragaa Abd-El-Salam; Ibrahim Abdelfattah Alkashlan; Mohamed Saber; Sanaa Mohamed; Mohamed Hassaan; Eman Rabie; Khalda Amr. 2019. "Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome." Open Access Macedonian Journal of Medical Sciences 7, no. 19: 3145-3148.