Výsledky vyhledávání - "Nader Chalhoub"

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America

Significance Genetic investigations of most structural birth defects, including spina bifida (SB), congenital heart disease, and craniofacial anomalies, have been underpowered for genome-wide association studies because of their rarity, genetic heter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd51a183a18a26f240b9d16ffed112a
https://doi.org/10.1073/pnas.2106844118

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Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome

Autor: M. Elizabeth Ross, M. Al Mureikhi, Tawfeg Ben-Omran, Alice Abdel Aleem, Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Hooman Kamel

Publikováno v: Clinical Genetics. 93:387-391

We report a consanguineous Arab family with three affected siblings who display a disorder of global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract. The clinical phenotype was associated with charact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad115e9d3c145371e0849d02eb3f128f
https://doi.org/10.1111/cge.13122

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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Autor: Alice Abdel Aleem, Hussein Kamel, Yasmin A. Mohamoud, Mahmoud F. Elsaid, Tawfeg Ben-Omran, Pankaj Kumar, Khalid Ibrahim, M. Elizabeth Ross, Karsten Suhre, Iman K. Al-Azwani, Nader Chalhoub, Eman K. Al-Dous, Joel A. Malek

Publikováno v: Annals of Neurology. 81:68-78

Objective Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal r

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https://doi.org/10.1002/ana.24826

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Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant

Autor: Reem Babiker Mohamed, Rana al-Shami, Mahmoud F. Elsaid, Omar Osman, M. Elizabeth Ross, Noora AlMudheki, Khalid Mohamed, Khalid Ibrahim, Nader Chalhoub, Osama Elalamy, Omer F. Kuzu, Alice Abdel Aleem, Almahdi Chakroun

Publikováno v: Neuromuscular disorders : NMD. 30(6)

Congenital LAMA2 related muscular dystrophy (LAMA2-RD), the most commonly recognized type of congenital muscular dystrophies, has been described in patients' cohorts from Europe and the UK but not from Middle-Eastern. This study aimed to reveal the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875c99aec7790778571273e453d840f8
https://pubmed.ncbi.nlm.nih.gov/32444167

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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Autor: Khalid Ibrahim, Alice Abdel Aleem, Mahmoud F. Elsaid, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki

Publikováno v: BMC Medical Genetics

Background Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA c

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https://doi.org/10.1186/s12881-017-0395-6

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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Autor: Mahmoud Fawzi, Elsaid, Nader, Chalhoub, Tawfeg, Ben-Omran, Pankaj, Kumar, Hussein, Kamel, Khalid, Ibrahim, Yasmin, Mohamoud, Eman, Al-Dous, Iman, Al-Azwani, Joel A, Malek, Karsten, Suhre, M Elizabeth, Ross, Alice Abdel, Aleem

Publikováno v: Annals of neurology. 81(1)

Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::67c4eacbd5fbed260c6c5c1b79e6e17e
https://pubmed.ncbi.nlm.nih.gov/27863452

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Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency

Autor: Youngsoo Lee, Helen R. Russell, Yong Dong Wang, Kenji E. Orii, Suzanne J. Baker, Peter J. McKinnon, Naomi Kondo, Jingfeng Zhao, Nader Chalhoub, Pierre Olivier Frappart

Publikováno v: Proceedings of the National Academy of Sciences. 106:1880-1885

Inactivation of homologous recombination (HR) or nonhomologous end-joining (NHEJ) predisposes to a spectrum of tumor types. Here, we inactivated DNA double-strand break repair (DSBR) proteins, DNA Ligase IV (Lig4), Xrcc2, and Brca2, or combined Lig4/

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https://doi.org/10.1073/pnas.0806882106

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PTEN and the PI3-Kinase Pathway in Cancer

Autor: Suzanne J. Baker, Nader Chalhoub

Publikováno v: Annual Review of Pathology: Mechanisms of Disease. 4:127-150

PI3-kinase and PTEN are major positive and negative regulators, respectively, of the PI3-kinase pathway, which regulates growth, survival, and proliferation. These key signaling components are two of the most frequently mutated proteins in human canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acee8fde39ed05a52da3fbb2110ab5ee
https://doi.org/10.1146/annurev.pathol.4.110807.092311

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