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

Publikováno v: In The American Journal of Human Genetics 6 August 2020 107(2):311-324

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Autor: Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A., Adams, Darius J., Lai, Abbe, Pais, Lynn, Iwaszkiewicz, Justyna, Millan, Francisca, Sarwar, Muhammad T., Agha, Zehra, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Falconnet, Emilie, Zoete, Vincent, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico A., Ahmed, Jawad, Katsanis, Nicholas, Walsh, Christopher, Davis, Erica E., Antonarakis, Stylianos E.

Publikováno v: In The American Journal of Human Genetics 6 June 2019 104(6):1073-1087

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Autor: Ansar, Muhammad, Ebstein, Frédéric, Özkoç, Hayriye, Paracha, Sohail A, Iwaszkiewicz, Justyna, Gesemann, Matthias, Zoete, Vincent, Ranza, Emmanuelle, Santoni, Federico A, Sarwar, Muhammad T, Ahmed, Jawad, Krüger, Elke, Bachmann-Gagescu, Ruxandra, Antonarakis, Stylianos E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______885::6765d3fbdb5b33e23db2ea3cd62c9221
https://doi.org/10.5167/uzh-192397

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NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b

Autor: Asad Sultan, Ashfaq Usman A, Sumrin Aleena, Ansar Muhammad, Ahmad Waqar, Ijaz Bushra, Kausar Humera, Sarwar Muhammad T, Gull Sana, Shahid Imran, Hassan Sajida

Publikováno v: Virology Journal, Vol 8, Iss 1, p 317 (2011)

Abstract Background The 9.6 kb long RNA genome of Hepatitis C virus (HCV) is under the control of RNA dependent RNA polymerase, an error-prone enzyme, for its transcription and replication. A high rate of mutation has been found to be associated with

Externí odkaz: https://doaj.org/article/47271b1054d649aa9d2cb9ac894855f6