Explanipedia

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures Open

Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson, Yi Ren, Yifan Yang , et al. · 2025

De novo heterozygous variants in the CELF2 gene have recently been associated with a rare neurodevelopmental disorder. However, the mechanisms linking specific variants to distinct clinical phenotypes remain poorly understood. Here, we rep…

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models Open

Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian , et al. · 2025

Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2 , encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated…

Untargeted Metabolomics Reveals Distinct Metabolic Profiles in MMA Patients with MUT Gene Mutations Open

Shuruq Alsuhaymi, Reem H. AlMalki, Maha Al Mogren, Ahamd Alodaib, Abdul-Hamid Emwas , et al. · 2025

Methylmalonic acidemia (MMA), the most prevalent congenital organic acidemia, is inherited in an autosomal recessive pattern due to MUT gene mutations that impair methylmalonyl-CoA mutase (MCM) enzyme activity, leading to the toxic accumul…

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans Open

Emmanuelle Szenker‐Ravi, Tim Ott, A. Yusof, Maya Chopra, Muznah Khatoo , et al. · 2025

Design of an innovative aptasensor for the detection of chemotherapeutic drug Fludarabine phosphate Open

Shamsa Alanazi, Amina Rhouati, Amani Chrouda, Dana Cialla‐May, Jürgen Popp , et al. · 2024

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome Open

Josephina Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen , et al. · 2024

Mono and biallelic variants inHCN2cause severe neurodevelopmental disorders Open

Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian , et al. · 2024

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy.…

Proteomics profiling to distinguish DOCK8 deficiency from atopic dermatitis Open

Minnie Jacob, Afshan Masood, Zakia Shinwari, Mai Abdel Jabbar, Hamoud Al‐Mousa , et al. · 2024

Background: DOCK8 deficiency is an autosomal recessive form of hyperimmunoglobulinemia E syndrome (HIES). Severe atopic dermatitis (AD) shares with DOCK8 deficiency some clinical symptoms, including eczema, eosinophilia, and increased seru…

Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation Open

Haifa H. Jabara, Douglas R. McDonald, Erin Janssen, Michel J. Massaad, Narayanaswamy Ramesh , et al. · 2022

Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis Open

Minnie Jacob, Afshan Masood, Zakiya Shinwari, Mai Abdel Jabbar, Hamoud Al‐Mousa , et al. · 2021

Dedicator of cytokinesis 8 deficiency is an autosomal recessive primary immune deficiency disease belonging to the group of hyperimmunoglobulinemia E syndrome (HIES). The clinical phenotype of dedicator of cytokinesis 8 (DOCK8) deficiency,…

Metabolomics Profiling of Cystic Renal Disease towards Biomarker Discovery Open

Dalia Sriwi, Mohamad S. Alabdaljabar, Minnie Jacob, Ahmed H. Mujamammi, Xinyun Gu , et al. · 2021

Cystic renal disease (CRD) comprises a heterogeneous group of genetic and acquired disorders. The cystic lesions are detected through imaging, either incidentally or after symptoms develop, due to an underlying disease process. In this stu…

Molecular classification of blood and bleeding disorder genes Open

Batoul Baz, Mohamed Abouelhoda, Tarek Owaidah, Majed Dasouki, Dorota Monies , et al. · 2021

The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular …

Role of gene therapy in Fanconi anemia Open

Shameel Shafqat, Eleze Tariq, Aric Parnes, Majed Dasouki, Syed Osman Ahmed , et al. · 2021

Gene therapy (GT) has been reported to improve bone marrow function in individuals with Fanconi anemia (FA); however, its clinical application is still in the initial stages. We conducted this systematic review, following the Preferred Rep…

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease Open

Majed Dasouki, Ayodele Alaiya, Tanziel ElAmin, Zakia Shinwari, Dorota Monies , et al. · 2021

VP06.12: The use of microarray analysis for prenatal diagnosis in King Faisal Specialist Hospital Open

Mohannad Ali, Majed Dasouki, A. Rehaili, Yara S. Kattan, Wesam Kurdi · 2020

Establish the association between copy number variants from Microarray analysis and their disease phenotype when pregnancies with fetal abnormalities are present. Identify the indications of performing novel molecular tools which are curre…

Familial Emberger Syndrome With Autoimmunity, Hyper-Immunoglobulin E and Lymphatic Impairment Caused by a Novel GATA2 Mutation Open

Moneerah AlGassim, Ahad Al Seraihi, Alfadel Alshaibani, Walter Conca, Saleem AlShehri , et al. · 2020

Dexamethasone-Induced Perturbations in Tissue Metabolomics Revealed by Chemical Isotope Labeling LC-MS Analysis Open

Lina A. Dahabiyeh, Abeer Malkawi, Xiaohang Wang, Dilek Çolak, Ahmed H. Mujamammi , et al. · 2020

Dexamethasone (Dex) is a synthetic glucocorticoid (GC) drug commonly used clinically for the treatment of several inflammatory and immune-mediated diseases. Despite its broad range of indications, the long-term use of Dex is known to be as…

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation Open

Janet Chou, Anas M. Alazami, Faris Jaber, Rodrigo Hoyos‐Bachiloglu, Jennifer Jones , et al. · 2019

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery Open

Minnie Jacob, Xinyun Gu, Xian Luo, Hamoud Al‐Mousa, Rand Arnaout , et al. · 2019

Bi-allelic mutations in the dedicator of cytokinesis 8 (DOCK8) are responsible for a rare autosomal recessive primary combined immunodeficiency syndrome, characterized by atopic dermatitis, elevated serum Immunoglobulin E (IgE) levels, rec…

Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma Open

Shatha Albattal, Meshael Alswailem, Yosra Moria, Hindi Al‐Hindi, Majed Dasouki , et al. · 2019

About 30%-40% of patients with pheochromocytoma (PCC) and paraganglioma (PGL) have underlying germline mutations in certain susceptibility genes despite absent family history of these tumors. Here, we present mutational profile of 101 such…

Proteomic Analysis of Morphologically Changed Tissues after Prolonged Dexamethasone Treatment Open

Abeer Malkawi, Afshan Masood, Zakia Shinwari, Minnie Jacob, Hicham Benabdelkamel , et al. · 2019

Prolonged dexamethasone (Dex) administration leads to serious adverse and decrease brain and heart size, muscular atrophy, hemorrhagic liver, and presence of kidney cysts. Herein, we used an untargeted proteomic approach using liquid chrom…

Correction: Arterial tortuosity syndrome: 40 new families and literature review Open

Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea , et al. · 2018

Metabolomics Based Profiling of Dexamethasone Side Effects in Rats Open

Abeer Malkawi, Karem H. Alzoubi, Minnie Jacob, Goran Matic, Asmaa Ali , et al. · 2018

Dexamethasone (Dex) is a synthetic glucocorticoid that has anti-inflammatory and immunosuppressant effects and is used in several conditions such as asthma and severe allergy. Patients receiving Dex, either at a high dose or for a long tim…

Arterial tortuosity syndrome: 40 new families and literature review Open

Aude Beyens, Juliette Albuisson, Tiffany Lepard, N Canham, JM Chopin , et al. · 2018

HSP and deafness Open

Sandra Donkervoort, Diana Bharucha‐Goebel, Pomi Yun, Ying Hu, Payam Mohassel , et al. · 2017

These findings expand the phenotypic spectrum of SOX10-related neurocristopathy. Mutations in SOX10 should be considered in patients presenting with a complicated form of hereditary spastic paraplegia that includes neuropathy…

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α Open

Priya S. Kishnani, Mark A. Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki , et al. · 2017

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat Open

Dominique P. Germain, Derralynn Hughes, Kathy Nicholls, Daniel G. Bichet, Roberto Giugliani , et al. · 2016

Among all randomly assigned patients (with mutant α-galactosidase forms that were suitable or not suitable for migalastat therapy), the percentage of patients who had a response at 6 months did not differ significantly between the migalast…

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency Open

Karin R. Engelhardt, Michael E. Gertz, Sevgi Keleş, Alejandro A. Schäffer, Elena C. Sigmund , et al. · 2015

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 Open

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Dominick Amato, Hagit Baris , et al. · 2015

clinicaltrials.gov Identifier: NCT00891202.

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