PMC Links for OMIM (Select 600712) - PMC

Select item 96063821.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Jr., Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

Am J Hum Genet. 2022 Oct 6; 109(10): 1867–1884. Published online 2022 Sep 20. doi: 10.1016/j.ajhg.2022.08.014

PMCID:: PMC9606382

Abstract Article PDF–2.3M

Select item 61172942.

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K. Grange, Gail E. Graham, Carolina Galarreta, Marilyn C. Jones, Usha Kini, Helen Stewart, Jillian S. Parboosingh, Antonie D. Kline, A. Micheil Innes, Care for Rare Canada Consortium

Eur J Hum Genet. 2018 Sep; 26(9): 1272–1281. Published online 2018 Jun 14. doi: 10.1038/s41431-018-0187-2

PMCID:: PMC6117294

Abstract Article PDF–836K

Select item 50068483.

A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

L. Lange, A. T. Pagnamenta, S. Lise, S. Clasper, H. Stewart, E. S. Akha, G. Quaghebeur, S. J. L. Knight, D. A. Keays, J. C. Taylor, U. Kini

Clin Genet. 2016 Sep; 90(3): 258–262. Published online 2016 Apr 1. doi: 10.1111/cge.12773

PMCID:: PMC5006848

Abstract Article PDF–1.1M

Select item 45892264.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

P.Y. Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, Francois P. Bernier, Marcia Ferguson, Care for Rare Canada Consortium, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes, Antonie D. Kline

Hum Mutat. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Hum Mutat. 2015 Oct; 36(10): 1009–1014. Published online 2015 Aug 6. doi: 10.1002/humu.22837

PMCID:: PMC4589226

Abstract Article PDF–440K

Select item 42875735.

Identification of HNRNPK as Regulator of Hepatitis C Virus Particle Production

Marion Poenisch, Philippe Metz, Hagen Blankenburg, Alessia Ruggieri, Ji-Young Lee, Daniel Rupp, Ilka Rebhan, Kathrin Diederich, Lars Kaderali, Francisco S. Domingues, Mario Albrecht, Volker Lohmann, Holger Erfle, Ralf Bartenschlager

PLoS Pathog. 2015 Jan; 11(1): e1004573. Published online 2015 Jan 8. doi: 10.1371/journal.ppat.1004573

PMCID:: PMC4287573

Abstract Article PDF–8.9M

Select item 36365636.

MicroRNA-7, a Homeobox D10 Target, Inhibits the p21-Aactivated Kinase 1 and Regulates its Functions

Sirigiri Divijendra Natha Reddy, Kazufumi Ohshiro, Suresh K. Rayala, Rakesh Kumar

Cancer Res. Author manuscript; available in PMC 2013 Apr 26.

Published in final edited form as: Cancer Res. 2008 Oct 15; 68(20): 8195–8200. doi: 10.1158/0008-5472.CAN-08-2103

PMCID:: PMC3636563

Abstract Article PDF–796K

Select item 18856147.

Loss-of-function screening by randomized intracellular antibodies: Identification of hnRNP-K as a potential target for metastasis

Atsushi Inoue, Shinya Y. Sawata, Kazunari Taira, Renu Wadhwa

Proc Natl Acad Sci U S A. 2007 May 22; 104(21): 8983–8988. Published online 2007 May 4. doi: 10.1073/pnas.0607595104

PMCID:: PMC1885614

Abstract Article PDF–1.0M

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