Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Autor: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s

Externí odkaz: https://doaj.org/article/669f0574667343e2aba272d086c020c6

A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

Autor: Marwa Chourabi, Dorra H’mida-Ben Brahim, Carine Bonnard, Amina Aounallah, Alvin Yu Ng, Sumanty Tohari, Byrappa Venkatesh, Ali Saad, Lobna Boussofara, Bruno Reversade, Mohamed Denguezli

Publikováno v: Nasza Dermatologia Online, Vol 9, Iss 2, Pp 110-113 (2018)

Background: Hailey-Hailey disease (HHD) is an autosomal dominant blistering skin disorder that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene of this disease since 2000. Materials and Methods

Externí odkaz: https://doaj.org/article/e362b8af2de845b5bf15d8ca8c5dca92

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Autor: Breana Cham, Jiin Ying Lim, Wendy K.M. Liew, Yuen-Ming Tan, Jyn-Ling Kuan, Bruno Reversades, Raman Sethi, Alvin Yu Jin Ng, Nathalie Escande-Beillard, Alexander Lezhava, Sumanty Tohari, Heming Wei, Arun George Devasia, Deepa Subramanian, Sylvia Kam, Woei Kang Liew, Min Xie, Kanika Jain, Saumya Shekhar Jamuar, Hai-Yang Law, Ee Shien Tan, Nilesh R. Tawari, Swati Tomar, Ene-Choo Tan, Ivy Ng, Carine Bonnard, Grace Lin, Angeline Lai, Chew Yin Jasmine Goh, Perumal Dharuman, Poh San Lai, Arthi Shanmugasundaram, Huilin Chin, Neha Singh Bhatia, Denise L.M. Goh, Maggie Brett, Célia Bosso-Lefèvre, Grace K. Tan, Teck Wah Ting, Roger Foo, Sarah B Ng, Cheuk Ka Tong, Byrappa Venkatesh, Zenia Tiang

Publikováno v: Archives of Disease in Childhood. 106:31-37

ObjectiveUse next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting.DesignA diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore Undi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9bba7015302a03439efc4b46889a6c9
https://doi.org/10.1136/archdischild-2020-319180

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

Autor: Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sébastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, André Megarbane, Linda Daou, Ghassan Chehab, Sylvie Di Filippo, Caroline Rooryck, Jean-François Deleuze, Anne Boland, Nicolas Arribard, Rukiye Eker, Sumanty Tohari, Alvin Yu-Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T. Gordon, Achim Gossler, Sudipto Roy, Tania Attie-Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade

Publikováno v: Nature genetics, 54(1), 62-72. Nature Publishing Group
Nature Genetics
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩

Erratum in Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b44d805be19956b17466e0cc898449
https://pure.amc.nl/en/publications/discovery-of-a-genetic-module-essential-for-assigning-leftright-asymmetry-in-humans-and-ancestral-vertebrates(77a97734-296e-4e94-ba7b-51dce328a861).html

Additional file 4 of Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma

Autor: Kuick, Chik Hong, Tan, Jia Ying, Jasmine, Deborah, Sumanty, Tohari, Ng, Alvin Y. J., Venkatesh, Byrrappa, Chen, Huiyi, Loh, Eva, Jain, Sudhanshi, Seow, Wan Yi, Ng, Eileen H. Q., Lian, Derrick W. Q., Soh, Shui Yen, Chang, Kenneth T. E., Chen, Zhi Xiong, Loh, Amos H. P.

Additional file 4. Supplementary methods.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d13597f4238c2d5ffbe6a0cfde9b7c