Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Autor: Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer

Publikováno v: NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed9687e3344ab597c47489b1520ba6f
https://doi.org/10.1038/s41467-021-22627-w

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

Autor: Francois P. Bernier, Sarah F. Smithson, Danielle C. Lynch, C Wallis, Debbie Shears, Jenny Morton, Elaine H. Zackai, Melissa Lees, Amaka C. Offiah, Usha Kini, Angela Barnicoat, Nobue Itasaki, Emma Wakeling, Tom Hilliard, Jillian S. Parboosingh, Jill Clayton-Smith, Alistair Calder, Simon Langton-Hewer, Angus John Clarke, Rebecca Hewitson, Elizabeth J. Bhoj, Richard H Scott, Madeleine J. Tooley, Michael Saunders, Tessa Homfray, Moira Blyth, Peter Davis

Publikováno v: American journal of medical genetics. Part A. (5)

Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465c058f504125f803d4c1187f7f0419
https://pubmed.ncbi.nlm.nih.gov/26971886

Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

Autor: Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, Francois P. Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

Publikováno v: Human Mutation.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a914652de1cddba36c278916d38e29a8
https://doi.org/10.1002/humu.22290

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Autor: Arthur Grix, Maria Leine Guion-Almeida, Caroline Nava, Lijia Huang, Detlef Böhm, Danielle C. Lynch, Dennis E. Bulman, Gabriele Gillessen-Kaesbach, Jürgen Kohlhase, Gülen Eda Utine, Denise Horn, Dorit Lev, Kym M. Boycott, Almuth Caliebe, Ute Hehr, Geneviève Baujat, Stuart Douglas, Jeremy Schwartzentruber, Yasemin Alanay, Matthew A. Lines, Dietmar R. Lohmann, Roseli Maria Zechi-Ceide, Usha Kini, Jacek Majewski, Chandree L. Beaulieu, Dagmar Wieczorek, Blanca Gener

Publikováno v: The American Journal of Human Genetics. (2):369-377

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e7cd4b40481adfd0eabc7948b9b387