Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Stefan Höning"'
Autor:
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Summary: CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene have been recently identified as a cause of Poirier-Bienve
Externí odkaz:
https://doaj.org/article/9ab8572fe2874d66a9f70e678cec119a
Autor:
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which mak
Externí odkaz:
https://doaj.org/article/86efdf4d011a4c569530b984fe472c83
Autor:
Chrisovalantis Papadopoulos, Genny Orso, Giuseppe Mancuso, Marija Herholz, Sentiljana Gumeni, Nimesha Tadepalle, Christian Jüngst, Anne Tzschichholz, Astrid Schauss, Stefan Höning, Aleksandra Trifunovic, Andrea Daga, Elena I Rugarli
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005149 (2015)
Mutations in SPAST, encoding spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP). HSP is characterized by weakness and spasticity of the lower limbs, owing to progressive retrograde degeneration of the long co
Externí odkaz:
https://doaj.org/article/3da9f1dff82e4b5a9eb79bfa2290ca50
Autor:
Melissa A Edeling, Subramaniam Sanker, Takaki Shima, P K Umasankar, Stefan Höning, Hye Y Kim, Lance A Davidson, Simon C Watkins, Michael Tsang, David J Owen, Linton M Traub
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8150 (2009)
PACSIN/Syndapin proteins are membrane-active scaffolds that participate in endocytosis. The structure of the Drosophila Syndapin N-terminal EFC domain reveals a crescent shaped antiparallel dimer with a high affinity for phosphoinositides and a uniqu
Externí odkaz:
https://doaj.org/article/338ea4edadf24b37899b08ee82ff5476
Autor:
Nathan R. Zaccai, Zuzana Kadlecova, Veronica Kane Dickson, Kseniya Korobchevskaya, Jan Kamenicky, Oleksiy Kovtun, Perunthottathu K. Umasankar, Antoni G. Wrobel, Jonathan G. G. Kaufman, Sally R. Gray, Kun Qu, Philip R. Evans, Marco Fritzsche, Filip Sroubek, Stefan Höning, John A. G. Briggs, Bernard T. Kelly, David J. Owen, Linton M. Traub
Publikováno v:
Science Advances. 8
Clathrin-mediated endocytosis (CME) is the main mechanism by which mammalian cells control their cell surface proteome. Proper operation of the pivotal CME cargo adaptor AP2 requires membrane-localized Fer/Cip4 homology domain-only proteins (FCHO). H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b723d388987fce8c7b61442cef921fc
https://doi.org/10.1126/sciadv.abn2018
https://doi.org/10.1126/sciadv.abn2018
Autor:
Nathan R. Zaccai, Zuzana Kadlecova, Veronica Kane Dickson, Kseniya Korobchevskaya, Jan Kamenicky, Oleksiy Kovtun, Perunthottathu K. Umasankar, Antoni G. Wrobel, Jonathan G.G. Kaufman, Sally Gray, Kun Qu, Philip R. Evans, Marco Fritzsche, Filip Sroubek, Stefan Höning, John A.G. Briggs, Bernard T. Kelly, David J. Owen, Linton M. Traub
Clathrin-mediated endocytosis (CME) is the main mechanism by which mammalian cells control their cell surface proteome. Proper operation of the pivotal CME cargo-adaptor AP2 requires membrane-localised FCHO. Here, live-cell eTIRF-SIM shows that FCHO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e79a12d731600e38e491e1c3decb394d
https://doi.org/10.1101/2022.04.02.486817
https://doi.org/10.1101/2022.04.02.486817
Autor:
Muhammad Jawad Hassan, Holger Thiele, Mohammad R. Toliat, Haseeb Anwar, Birgit Budde, Ilknur Sur-Erdem, M. Asif, Ludwig Eichinger, Arwa Ishaq A. Khayyat, Maria Iqbal, Peter Nürnberg, Muhammad Tariq, Angelika A. Noegel, Jamshaid Mahmood Baig, Ehtisham Ul Haq Makhdoom, Ilyas Ahmed, Muhammad Sher, Sarah Fischer, Uzma Abdullah, Christian Becker, Sigrid Tinschert, Stefan Höning, Muhammad Mohsin Ali Khan, Naveed Altaf Malik, Muhammad Jameel, Muhammad Sajid Hussain, Emrah Kaygusuz, Shahid Mahmood Baig
Publikováno v:
Clinical Genetics. 100:486-488
Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9937f5cb98e5a30c442b33a7e084681
https://doi.org/10.1111/cge.14028
https://doi.org/10.1111/cge.14028
Autor:
Birgit Budde, Ilknur Sur-Erdem, Muhammad Mohsin Ali Khan, Mohammad R. Toliat, Stefan Höning, Angelika A. Noegel, Muhammad Jawad Hassan, Christian Becker, Sarah Fischer, Muhammad Sher, Naveed Altaf Malik, Jamshaid Mahmood Baig, Peter Nürnberg, Ehtisham Ul Haq Makhdoom, Ilyas Ahmed, Sigrid Tinschert, Haseeb Anwar, Muhammad Sajid Hussain, Uzma Abdullah, Shahid Mahmood Baig, Muhammad Tariq, Holger Thiele, Emrah Kaygusuz, Muhammad Jameel, Arwa Ishaq A. Khayyat, Maria Iqbal, M. Asif, Ludwig Eichinger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eac63d60fab7642873248ec926e6542
https://doi.org/10.1111/cge.14028/v2/response1
https://doi.org/10.1111/cge.14028/v2/response1
Autor:
M. Asif, Ehtisham Ul Haq Makhdoom, Muhammad Tariq, Maria Iqbal, Muhammad Sajid Hussain, Shahid Mahmood Baig, Sheraz Jamal Khan, Birgit Budde, Ghulam Hussain, Wolfgang Höhne, Janine Altmüller, Stefan Höning, Muhammad Jameel, Ambrin Fatima, Sigrid Tinschert, Ayaz Khan, Iram Anjum, Emrah Kaygusuz, Syeda Seema Waseem, Hammad Yousaf, Peter Nürnberg, Uzma Abdullah, Saadia Maryam Saadi, Holger Thiele, Zafar Ali
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474865bca935a6b350b9efe1a9c23656
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf
Autor:
Ehtisham Ul Haq, Makhdoom, Syeda Seema, Waseem, Maria, Iqbal, Uzma, Abdullah, Ghulam, Hussain, Maria, Asif, Birgit, Budde, Wolfgang, Höhne, Sigrid, Tinschert, Saadia Maryam, Saadi, Hammad, Yousaf, Zafar, Ali, Ambrin, Fatima, Emrah, Kaygusuz, Ayaz, Khan, Muhammad, Jameel, Sheraz, Khan, Muhammad, Tariq, Iram, Anjum, Janine, Altmüller, Holger, Thiele, Stefan, Höning, Shahid Mahmood, Baig, Peter, Nürnberg, Muhammad Sajid, Hussain
Publikováno v:
Genes
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3051f4d716fe62e3148fd1e3eeda74c1
https://pubmed.ncbi.nlm.nih.gov/34068194
https://pubmed.ncbi.nlm.nih.gov/34068194