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Select item 94295451.

Modulating effects of FGF12 variants on Na_V1.2 and Na_V1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber

eBioMedicine. 2022 Sep; 83: 104234. Published online 2022 Aug 24. doi: 10.1016/j.ebiom.2022.104234

PMCID:: PMC9429545

Abstract Article PDF–2.6M

Select item 84839752.

Early-Onset Epilepsy and SUDEP With Cardiac Arrhythmia in Mice Carrying the EIEE47 Gain-of-Function Fhf1(Fgf12) Missense Mutation

Jana Velíšková, Christopher Marra, Yue Liu, Akshay Shekhar, David S. Park, Vasilisa Iatckova, Ying Xie, Glenn I. Fishman, Libor Velíšek, Mitchell Goldfarb

Epilepsia. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Epilepsia. 2021 Jul; 62(7): 1546–1558. Published online 2021 May 13. doi: 10.1111/epi.16916

PMCID:: PMC8483975

Abstract Article PDF–1.1M

Select item 81683793.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio

Epilepsia. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582

PMCID:: PMC8168379

Abstract Article PDF–908K

Select item 80590624.

Ca²⁺-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors

Ryan Mahling, Cade R. Rahlf, Samuel C. Hansen, Matthew R. Hayden, Madeline A. Shea

J Biol Chem. 2021 Jan-Jun; 296: 100458. Published online 2021 Feb 24. doi: 10.1016/j.jbc.2021.100458

PMCID:: PMC8059062

Abstract Article PDF–5.3M

Select item 72785525.

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Marjolein H. Willemsen, Himanshu Goel, Judith S. Verhoeven, Hilde M. H. Braakman, Nicole de Leeuw, Alison Freeth, Berge A. Minassian

Epilepsia Open. 2020 Jun; 5(2): 301–306. Published online 2020 May 9. doi: 10.1002/epi4.12396

PMCID:: PMC7278552

Abstract Article PDF–726K

Select item 71934046.

FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner

Martyna Sochacka, Lukasz Opalinski, Jakub Szymczyk, Marta B. Zimoch, Aleksandra Czyrek, Daniel Krowarsch, Jacek Otlewski, Malgorzata Zakrzewska

Cell Commun Signal. 2020; 18: 69. Published online 2020 May 1. doi: 10.1186/s12964-020-00573-2

PMCID:: PMC7193404

Abstract Article PDF–1.5M

Select item 59017017.

Novel copy-number variants in a population-based investigation of classic heterotaxy

Shannon L. Rigler, Denise M. Kay, Robert J. Sicko, Ruzong Fan, Aiyi Liu, Michele Caggana, Marilyn L. Browne, Charlotte M. Druschel, Paul A. Romitti, Lawrence C. Brody, James L. Mills

Genet Med. Author manuscript; available in PMC 2018 Apr 16.

Published in final edited form as: Genet Med. 2015 May; 17(5): 348–357. Published online 2014 Sep 18. doi: 10.1038/gim.2014.112

PMCID:: PMC5901701

Abstract Article PDF–899K

Select item 55864558.

De Novo FGF12 (Fibroblast Growth Factor 12) Functional Variation Is Potentially Associated With Idiopathic Ventricular Tachycardia

Qianqian Li, Yuanyuan Zhao, Gang Wu, Shanshan Chen, Yingchao Zhou, Sisi Li, Mengchen Zhou, Qian Fan, Jielin Pu, Kui Hong, Xiang Cheng, Qing Kenneth Wang, Xin Tu

J Am Heart Assoc. 2017 Aug; 6(8): e006130. Published online 2017 Aug 3. doi: 10.1161/JAHA.117.006130

PMCID:: PMC5586455

Abstract Article PDF–1.3M

Select item 53900979.

Small copy-number variations involving genes of the FGF pathway in differences in sex development

Andrew Hagan, Ina E Amarillo

Hum Genome Var. 2017; 4: 17011. Published online 2017 Apr 13. doi: 10.1038/hgv.2017.11

PMCID:: PMC5390097

Abstract Article PDF–617K

Select item 387005110.

FGF12 is a candidate Brugada syndrome locus

Jessica A. Hennessey, Cherisse A. Marcou, Chuan Wang, Eric Q. Wei, Chaojian Wang, David J. Tester, Margherita Torchio, Federica Dagradi, Lia Crotti, Peter J. Schwartz, Michael J. Ackerman, Geoffrey S. Pitt

Heart Rhythm. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Heart Rhythm. 2013 Dec; 10(12): 10.1016/j.hrthm.2013.09.064. Published online 2013 Oct 4. doi: 10.1016/j.hrthm.2013.09.064

PMCID:: PMC3870051

Abstract Article PDF–2.2M

Select item 313829211.

Fibroblast Growth Factor-12 (FGF12) Translocation into Intestinal Epithelial Cells Is Dependent on a Novel Cell-penetrating Peptide Domain: INVOLVEMENT OF INTERNALIZATION IN THE IN VIVO ROLE OF EXOGENOUS FGF12

Fumiaki Nakayama, Takeshi Yasuda, Sachiko Umeda, Masahiro Asada, Toru Imamura, Viktor Meineke, Makoto Akashi

J Biol Chem. 2011 Jul 22; 286(29): 25823–25834. Published online 2011 Apr 25. doi: 10.1074/jbc.M110.198267

PMCID:: PMC3138292

Abstract Article PDF–1.7M

Select item 506578212.

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Erin M. Hagen, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H. Doleman, Ruzong Fan, Paul A. Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Gary M. Shaw, Laura L. Jelliffe-Pawlowski, James L. Mills

Hum Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Hum Genet. 2016 Dec; 135(12): 1355–1364. Published online 2016 Sep 15. doi: 10.1007/s00439-016-1727-x

PMCID:: PMC5065782

Abstract Article PDF–357K

Select item 417729413.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto-van Silfhout, Paolo Bosco, Kathryn L. Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke H. Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David Amaral, Natasha Brown, Paul J. Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O'Roak, Marco Fichera, Jayne Y. Hehir-Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B.A. de Vries, Corrado Romano, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Nat Genet. 2014 Oct; 46(10): 1063–1071. Published online 2014 Sep 14. doi: 10.1038/ng.3092

PMCID:: PMC4177294

Abstract Article PDF–806K

Select item 321648114.

Fibroblast Growth Factor Homologous Factors Are Intracellular Signalling Proteins

Jon Schoorlemmer, Mitchell Goldfarb

Curr Biol. Author manuscript; available in PMC 2011 Nov 15.

Published in final edited form as: Curr Biol. 2001 May 15; 11(10): 793–797. doi: 10.1016/s0960-9822(01)00232-9

PMCID:: PMC3216481

Abstract Article PDF–610K

Select item 366018115.

Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate

Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Oliveira Swerts, Edgard Graner, Ricardo D Coletta

BMC Med Genet. 2013; 14: 53. Published online 2013 May 16. doi: 10.1186/1471-2350-14-53

PMCID:: PMC3660181

Abstract Article PDF–685K

Select item 322145916.

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum

Kyle M Walsh, Murim Choi, Kjell Oberg, Matthew H Kulke, James C Yao, Chengqing Wu, Magdalena Jurkiewicz, Ling-I Hsu, Susanne M Hooshmand, Manal Hassan, Eva T Janson, Janet L Cunningham, Evan Vosburgh, Richard S Sackler, Richard P Lifton, Andrew T DeWan, Josephine Hoh

Endocr Relat Cancer. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Endocr Relat Cancer. 2011 Feb; 18(1): 171–180. Published online 2011 Jan 13. doi: 10.1677/ERC-10-0248

PMCID:: PMC3221459

Abstract Article PDF–1.3M

Select item 460350217.

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia

Hassan Musa, Crystal F. Kline, Amy C. Sturm, Nathaniel Murphy, Sara Adelman, Chaojian Wang, Haidun Yan, Benjamin L. Johnson, Thomas A. Csepe, Ahmet Kilic, Robert S. D. Higgins, Paul M. L. Janssen, Vadim V. Fedorov, Raul Weiss, Christina Salazar, Thomas J. Hund, Geoffrey S. Pitt, Peter J. Mohler

Proc Natl Acad Sci U S A. 2015 Oct 6; 112(40): 12528–12533. Published online 2015 Sep 21. doi: 10.1073/pnas.1516430112

PMCID:: PMC4603502

Abstract Article PDF–1.4M

Select item 489831118.

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter A.M. de Witte, Hilde Van Esch, Mitchell Goldfarb, Gunnar M. Buyse

Neurology. 2016 Jun 7; 86(23): 2162–2170. doi: 10.1212/WNL.0000000000002752

PMCID:: PMC4898311

Abstract Article PDF–862K

Select item 426638919.

FGF Homologous Factors and the Islet Brain-2 Scaffold Protein Regulate Activation of a Stress-Activated Protein Kinase

Jon Schoorlemmer, Mitchell Goldfarb

J Biol Chem. Author manuscript; available in PMC 2014 Dec 15.

Published in final edited form as: J Biol Chem. 2002 Dec 20; 277(51): 49111–49119. Published online 2002 Sep 18. doi: 10.1074/jbc.M205520200

PMCID:: PMC4266389

Abstract Article PDF–1.1M

Select item 258178520.

Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum

Christian Gieger, Ludwig Geistlinger, Elisabeth Altmaier, Martin Hrabé de Angelis, Florian Kronenberg, Thomas Meitinger, Hans-Werner Mewes, H.-Erich Wichmann, Klaus M. Weinberger, Jerzy Adamski, Thomas Illig, Karsten Suhre

PLoS Genet. 2008 Nov; 4(11): e1000282. Published online 2008 Nov 28. doi: 10.1371/journal.pgen.1000282

PMCID:: PMC2581785

Abstract Article PDF–341K

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