PMC Links for OMIM (Select 601796) - PMC

Select item 100873321.

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld

Hum Mutat. 2022 Dec; 43(12): 1844–1851. Published online 2022 Aug 10. doi: 10.1002/humu.24444

PMCID:: PMC10087332

Abstract Article PDF–5.2M

Select item 83548582.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli-Avella, Krishna K. Kandaswamy, Suliman Khan, Natalia Ordonez-Herrera, Kornelia Tripolszki, Christian Beetz, Maria Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al-Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed A. Albalwi, Abdulrahman Faiz Alswaid, Zuhair N. Al-Hassnan, Malak Ali Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al-Gazali, Huma Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Abbas Al-Sannaa, Aisha M. AlShamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

Genet Med. 2021; 23(8): 1551–1568. Published online 2021 Apr 19. doi: 10.1038/s41436-021-01159-0

PMCID:: PMC8354858

Abstract Article PDF–1.1M

Select item 48209083.

Essential role of the TFIID subunit TAF4 in murine embryogenesis and embryonic stem cell differentiation

Diana Langer, Igor Martianov, Daniel Alpern, Muriel Rhinn, Céline Keime, Pascal Dollé, Gabrielle Mengus, Irwin Davidson

Nat Commun. 2016; 7: 11063. Published online 2016 Mar 30. doi: 10.1038/ncomms11063

PMCID:: PMC4820908

Abstract Article PDF–4.0M

Select item 1567154.

ZBP-89 represses vimentin gene transcription by interacting with the transcriptional activator, Sp1

Xueping Zhang, Iman H. Diab, Zendra E. Zehner

Nucleic Acids Res. 2003 Jun 1; 31(11): 2900–2914. doi: 10.1093/nar/gkg380

PMCID:: PMC156715

Abstract Article PDF–473K

Select item 193675.

Molecular cloning and analysis of two subunits of the human TFIID complex: hTAF_II130 and hTAF_II100

Naoko Tanese, Daman Saluja, Milo F. Vassallo, Jin-Long Chen, Arie Admon

Proc Natl Acad Sci U S A. 1996 Nov 26; 93(24): 13611–13616. doi: 10.1073/pnas.93.24.13611

PMCID:: PMC19367

Abstract Article PDF–799K

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