Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Talia, Akram"'
Publikováno v:
Stem Cell Research, Vol 44, Iss , Pp - (2020)
The role of Neurochondrin (NCDN) in humans is not well understood. Mice with a conditional Ncdn knock-out show epileptic seizures, depressive-like behaviours and impaired spatial learning. Using CRISPR/Cas9, we generated a Neurochondrin deficient hum
Externí odkaz:
https://doaj.org/article/78887c7a642f42edb96eff02ac50b806
Autor:
Ambrin Fatima, Jens Schuster, Talia Akram, Carolina Maya González, Maria Sobol, Jan Hoeber, Niklas Dahl
Publikováno v:
Stem Cell Research, Vol 44, Iss , Pp - (2020)
Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated an IKBKG knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The iP
Externí odkaz:
https://doaj.org/article/3190affba4804d6db3634f98612a0a24
Autor:
Muhammad Ikram Ullah, Tahir N. Khan, Maimoona Siddiqui, Gaurav V. Harlalka, Erica E. Davis, Talia Akram, Zaineb Akram, Chunyu Liu, Muhammad Jameel, Arsalan Ahmad, Kamal Khan, Sarmad Mehmood, Barry A. Chioza, Muhammad Jawad Hassan, Humayoon Shafique Satti, Raees Khan, Emma A. Baple, Andrew H. Crosby, Shahid Mahmood Baig, Belqees Yawar Faiz, Feng Zhang
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(2)
Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause LGMDR1. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8396234000a7691c505bb9260affcc45
https://pubmed.ncbi.nlm.nih.gov/34697879
https://pubmed.ncbi.nlm.nih.gov/34697879
Autor:
Eriko Koshimizu, Loora Laan, Ambrin Fatima, Yoshiko Murakami, Takayoshi Koike, Junpei Tanigawa, Uzma Abdullah, Muhammad Akhtar Ali, Maarika Liik, Talia Akram, Mitsuhiro Kato, Casimiro Castillejo-López, Shahid Mahmood Baig, Naomichi Matsumoto, Boris Keren, Joakim Klar, Zafar Ali, Jan Hoeber, Zhe Jin, Satoko Miyatake, Jens Schuster, Niklas Dahl, Cyril Mignot, Bryndis Birnir, Rein Fadoul, Carolina Maya-Gonzalez
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
International audience; Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df64441b98868fc0dc51bfb34b05df73
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
Autor:
Muhammad Tariq, Ambrin Fatima, Talia Akram, Muhammad Zakaria, Jens Schuster, Uzma Abdullah, Shahid Mahmood Baig, Johan Wikström, Habib Ahmad, Zafar Ali, Joakim Klar, Niklas Dahl
Publikováno v:
Human mutation. 40(7)
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reache
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee0020f295fa7de590083f64151d404b
https://pubmed.ncbi.nlm.nih.gov/30927481
https://pubmed.ncbi.nlm.nih.gov/30927481
Autor:
Abubakar, Moawia, Ranad, Shaheen, Sajida, Rasool, Syeda Seema, Waseem, Nour, Ewida, Birgit, Budde, Amit, Kawalia, Susanne, Motameny, Kamal, Khan, Ambrin, Fatima, Muhammad, Jameel, Farid, Ullah, Talia, Akram, Zafar, Ali, Uzma, Abdullah, Saba, Irshad, Wolfgang, Höhne, Angelika Anna, Noegel, Mohammed, Al-Owain, Konstanze, Hörtnagel, Petra, Stöbe, Shahid Mahmood, Baig, Peter, Nürnberg, Fowzan Sami, Alkuraya, Andreas, Hahn, Muhammad Sajid, Hussain
Publikováno v:
Annals of neurology. 82(4)
Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ca015f57614c2abc32b0a40d9bb5246
https://pubmed.ncbi.nlm.nih.gov/28892560
https://pubmed.ncbi.nlm.nih.gov/28892560