PMC Articles for MedGen (Select 341818) - PMC

Guy M. Lenk, Ian R. Berry, Chloe A. Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Fanjul-Fernandez Miriam, Rodriguez-Casero Victoria, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Broad Center for Mendelian Genomics, Susan M. White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y. Tan, Richard J. Leventer, John H. Livingston, Miriam H. Meisler

Hum Mutat. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Hum Mutat. 2019 May; 40(5): 619–630. Published online 2019 Feb 28. doi: 10.1002/humu.23720

PMCID:: PMC6467804

Abstract Article PDF–583K

Select item 60308997.

Protective role of the lipid phosphatase Fig4 in the adult nervous system

Yevgeniya A Mironova, Jing-Ping Lin, Ashley L Kalinski, Lucas D Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger

Hum Mol Genet. 2018 Jul 15; 27(14): 2443–2453. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy145

PMCID:: PMC6030899

Abstract Article PDF–1.3M

Select item 55581828.

Yunis-Varón syndrome caused by biallelic VAC14 mutations

Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Care4Rare Consortium, Philippe M Campeau, Kym M Boycott, Jean Michaud, André BP van Kuilenburg, Sacha Ferdinandusse, David A Dyment

Eur J Hum Genet. 2017 Sep; 25(9): 1049–1054. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.99

PMCID:: PMC5558182

Abstract Article PDF–1.6M

Select item 50054399.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Guy M. Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A. Hsu, Wolfram S. Kunz, Miriam H. Meisler, Rafal Ploski

Am J Hum Genet. 2016 Jul 7; 99(1): 188–194. Published online 2016 Jun 9. doi: 10.1016/j.ajhg.2016.05.008

PMCID:: PMC5005439

Abstract Article PDF–1.0M

Select item 474368810.

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function

Rajnish Bharadwaj, Kathleen M. Cunningham, Ke Zhang, Thomas E. Lloyd

Hum Mol Genet. 2016 Feb 15; 25(4): 681–692. Published online 2015 Dec 11. doi: 10.1093/hmg/ddv505

PMCID:: PMC4743688

Abstract Article PDF–1.0M

Select item 470611711.

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene

Guy M. Lenk, Christen M. Frei, Ashley C. Miller, Rachel C. Wallen, Yevgeniya A. Mironova, Roman J. Giger, Miriam H. Meisler

Hum Mol Genet. 2016 Jan 15; 25(2): 340–347. Published online 2015 Nov 24. doi: 10.1093/hmg/ddv480

PMCID:: PMC4706117

Abstract Article PDF–543K

Select item 441289812.

Reactivation of Lysosomal Ca²⁺ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

Jianlong Zou, Bo Hu, Sezgi Arpag, Qing Yan, Audra Hamilton, Yuan-Shan Zeng, Carlos G. Vanoye, Jun Li

J Neurosci. 2015 Apr 29; 35(17): 6801–6812. doi: 10.1523/JNEUROSCI.4442-14.2015

PMCID:: PMC4412898

Abstract Article PDF–3.0M

Select item 427507013.

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Ilaria Vaccari, Antonietta Carbone, Stefano Carlo Previtali, Yevgeniya A. Mironova, Valeria Alberizzi, Roberta Noseda, Cristina Rivellini, Francesca Bianchi, Ubaldo Del Carro, Maurizio D'Antonio, Guy M. Lenk, Lawrence Wrabetz, Roman J. Giger, Miriam H. Meisler, Alessandra Bolino

Hum Mol Genet. 2015 Jan 15; 24(2): 383–396. Published online 2014 Sep 3. doi: 10.1093/hmg/ddu451

PMCID:: PMC4275070

Abstract Article PDF–1.8M

Select item 405999214.

Mouse models of PI(3,5)P₂ deficiency with impaired lysosome function

Guy M. Lenk, Miriam H. Meisler

Methods Enzymol. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Methods Enzymol. 2014; 534: 245–260. doi: 10.1016/B978-0-12-397926-1.00014-7

PMCID:: PMC4059992

Abstract Article PDF–472K

Select item 396298915.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Stéphanie Baulac, Guy M. Lenk, Béatrice Dufresnois, Bouchra Ouled Amar Bencheikh, Philippe Couarch, Julie Renard, Peter A. Larson, Cole J. Ferguson, Eric Noé, Karine Poirier, Christine Hubans, Stéphanie Ferreira, Renzo Guerrini, Reda Ouazzani, Khalid Hamid El Hachimi, Miriam H. Meisler, Eric Leguern

Neurology. 2014 Mar 25; 82(12): 1068–1075. doi: 10.1212/WNL.0000000000000241

PMCID:: PMC3962989

Abstract Article PDF–966K

Select item 364464116.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

Am J Hum Genet. 2013 May 2; 92(5): 781–791. doi: 10.1016/j.ajhg.2013.03.020

PMCID:: PMC3644641

Abstract Article PDF–1.3M

Select item 101693217.

Yunis-Varon syndrome with severe osteodysplasty.

C Garrett, A C Berry, R H Simpson, C M Hall

J Med Genet. 1990 Feb; 27(2): 114–121. doi: 10.1136/jmg.27.2.114

PMCID:: PMC1016932

Summary Page Browse PDF–1.9M

Select item 101654018.

Congenital heart malformation in Yunis-Varón syndrome.

L C Adès, L L Morris, M Richardson, C Pearson, E A Haan

J Med Genet. 1993 Sep; 30(9): 788–792. doi: 10.1136/jmg.30.9.788

PMCID:: PMC1016540

Summary Page Browse PDF–1.6M

Select item 101553819.

Further delineation of the Yunis-Varon syndrome.

R C Hennekam, C Vermeulen-Meiners

J Med Genet. 1989 Jan; 26(1): 55–58. doi: 10.1136/jmg.26.1.55

PMCID:: PMC1015538

Summary Page Browse PDF–804K

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