Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Autor: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

Abstract Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variant

Externí odkaz: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Autor: Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)

Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi

Externí odkaz: https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

Autor: Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnor

Externí odkaz: https://doaj.org/article/8db6644c11c4473ea480bba4e547fa50

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Autor: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

Publikováno v: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlag

Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238
https://doi.org/10.1007/s00401-023-02579-9

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Autor: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

Publikováno v: Nature genetics. Nature Publishing Group

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985
https://doi.org/10.1038/s41588-022-01120-0