PMC Links for Gene (Select 124512) - PMC

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Items: 10

Select item 40823651.

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

Marie Bernkopf, Gerald Webersinke, Chanakan Tongsook, Chintan N. Koyani, Muhammad A. Rafiq, Muhammad Ayaz, Doris Müller, Christian Enzinger, Muhammad Aslam, Farooq Naeem, Kurt Schmidt, Karl Gruber, Michael R. Speicher, Ernst Malle, Peter Macheroux, Muhammad Ayub, John B. Vincent, Christian Windpassinger, Hans-Christoph Duba

Hum Mol Genet. 2014 Aug 1; 23(15): 4015–4023. Published online 2014 Mar 13. doi: 10.1093/hmg/ddu115

PMCID:: PMC4082365

Abstract Article PDF–1.0M

Select item 75636142.

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Amjad Khan, Zhichao Miao, Muhammad Umair, Amir Ullah, Mohammad A. Alshabeeb, Muhammad Bilal, Farooq Ahmad, Gudrun A. Rappold, Muhammad Ansar, Raphael Carapito

Genes (Basel) 2020 Sep; 11(9): 1021. Published online 2020 Aug 31. doi: 10.3390/genes11091021

PMCID:: PMC7563614

Abstract Article PDF–1.5M

Select item 40493053.

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Rachel E. Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu, Salma Ben-Salem, Michael E. Coulter, Christian R. Schubert, R. Sean Hill, Nadia A. Akawi, Banan Al-Younes, Namik Kaya, Gilad D. Evrony, Muna Al-Saffar, Jillian M. Felie, Jennifer N. Partlow, Christine M. Sunu, Pierre Schembri-Wismayer, Fowzan S. Alkuraya, Brian F. Meyer, Christopher A. Walsh, Lihadh Al-Gazali, Ganeshwaran H. Mochida

Hum Mol Genet. 2014 Jul 1; 23(13): 3456–3466. Published online 2014 Feb 5. doi: 10.1093/hmg/ddu054

PMCID:: PMC4049305

Abstract Article PDF–1.1M

Select item 18991114.

Distinct class of putative “non-conserved” promoters in humans: Comparative studies of alternative promoters of human and mouse genes

Katsuki Tsuritani, Takuma Irie, Riu Yamashita, Yuta Sakakibara, Hiroyuki Wakaguri, Akinori Kanai, Junko Mizushima-Sugano, Sumio Sugano, Kenta Nakai, Yutaka Suzuki

Genome Res. 2007 Jul; 17(7): 1005–1014. doi: 10.1101/gr.6030107

PMCID:: PMC1899111

Abstract Article PDF–757K

Select item 35478475.

A Newly Uncovered Group of Distantly Related Lysine Methyltransferases Preferentially Interact with Molecular Chaperones to Regulate Their Activity

Philippe Cloutier, Mathieu Lavallée-Adam, Denis Faubert, Mathieu Blanchette, Benoit Coulombe

PLoS Genet. 2013 Jan; 9(1): e1003210. Published online 2013 Jan 17. doi: 10.1371/journal.pgen.1003210

PMCID:: PMC3547847

Abstract Article PDF–5.7M

Select item 75668816.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 13561297.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 81650308.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011