A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Autor: Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu

Publikováno v: JCRPE, Vol 14, Iss 4, Pp 475-480 (2022)

Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imp

Externí odkaz: https://doaj.org/article/6ee0abfd42034b1595eb07cb5439a834

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Autor: Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-4 (2021)

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21448-1

Externí odkaz: https://doaj.org/article/47fc7e25d01448cf87274ea536ba865f

A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS

Autor: Mustafa Bilici, Serap Karaman, Aysegul Unuvar, Deniz Tugcu, Gülsah Tanyildiz, Ayca Dilruba Aslanger, Oya Uyguner, Rumeysa Tuna Deveci, Sifa Sahin, Zeynep Karakas

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S62-S63 (2021)

Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs as a result of congenital or acquired mutations that regulate erythroid development. Althoug

Externí odkaz: https://doaj.org/article/09a147323fc14bf7894b83150b43b840

Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsy

Autor: Emrah Yucesan, Beyza Goncu, Gozde Yesil, Ayca Dilruba Aslanger

Background Variations in the TRAPPC12present many symptoms, including microcephaly, agenesis of corpus callosum, cerebellar atrophy, and epilepsy. These features indicate a broad range of mortality and morbidity. Identifying a variation with function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52b2e68b7428e89f0568722f29caccce
https://doi.org/10.21203/rs.3.rs-2552844/v1

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Autor: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen

Publikováno v: American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52bcefda63010f9428f83b46704ce25
https://doi.org/10.1016/j.ajhg.2020.06.016