Publications by authors named "Rafah Mackeh"

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Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.
Nourhen Agrebi, Rafah Mackeh, Mohamed Alsabbagh, Asha Elmi, Amnah A Al-Marri

Front Immunol· June 2025

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Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.
Tariq O Abbas, Kholoud Al-Shafai, Asma Jamil, Maraeh Mancha, Amina Azzah, Rafah Mackeh

Diagnostics (Basel)· February 2025

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Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration.
Fang Yu, Satanay Hubrack, Christophe M Raynaud, Asha Elmi, Rafah Mackeh

J Allergy Clin Immunol· September 2024

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Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.
Salim Bougarn, Andrea Guennoun, Taushif Khan, Rafah Mackeh, Mehdi Adeli

J Clin Immunol· September 2024

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Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.
Rafah Mackeh, Yasmin El Bsat, Asha Elmi, Hani Bibawi, Mohammed Yousuf Karim

J Clin Immunol· April 2024

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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
Andrea Guennoun, Salim Bougarn, Taushif Khan, Rafah Mackeh, Mahbuba Rahman

J Clin Immunol· November 2021

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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.
Fang Yu, Nourhen Agrebi, Rafah Mackeh, Khaled Abouhazima, Khadija KhudaBakhsh

J Clin Immunol· July 2021

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CH-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis.
Njoud Al-Naama, Rafah Mackeh, Tomoshige Kino

Front Neurol· February 2020

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C2H2-Type Zinc Finger Proteins: Evolutionarily Old and New Partners of the Nuclear Hormone Receptors.
Rafah Mackeh, Alexandra K Marr, Abeer Fadda, Tomoshige Kino

Nucl Recept Signal· September 2019

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Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals.
Rafah Mackeh, Alexandra K Marr, Soha R Dargham, Najeeb Syed, Khalid A Fakhro

J Endocr Soc· January 2018

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A curated transcriptomic dataset collection relevant to embryonic development associated with fertilization in healthy individuals and patients with polycystic ovary syndrome.
Rafah Mackeh, Sabri Boughorbel, Damien Chaussabel, Tomoshige Kino

F1000Res· February 2017

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Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor.
Abeer Fadda, Najeeb Syed, Rafah Mackeh, Anna Papadopoulou, Shigeru Suzuki

Sci Rep· January 2017

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Reactive oxygen species, AMP-activated protein kinase, and the transcription cofactor p300 regulate α-tubulin acetyltransferase-1 (αTAT-1/MEC-17)-dependent microtubule hyperacetylation during cell stress.
Rafah Mackeh, Séverine Lorin, Ameetha Ratier, Najet Mejdoubi-Charef, Anita Baillet

J Biol Chem· April 2014

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Autophagy and microtubules - new story, old players.
Rafah Mackeh, Daniel Perdiz, Séverine Lorin, Patrice Codogno, Christian Poüs

J Cell Sci· March 2013

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The ins and outs of tubulin acetylation: more than just a post-translational modification?
Daniel Perdiz, Rafah Mackeh, Christian Poüs, Anita Baillet

Cell Signal· May 2011

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