PMC Articles for MedGen (Select 332113) - PMC

Select item 81058871.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

Neurol Genet. 2021 Feb; 7(1): e553. Published online 2021 Jan 12. doi: 10.1212/NXG.0000000000000553

PMCID:: PMC8105887

Abstract Article PDF–627K

Select item 67890412.

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

Vafa Keser, Jean-François Boisclair Lachance, Sabrina Shameen Alam, Youngshin Lim, Eleonora Scarlata, Apinder Kaur, Tian Fang Zhang, Shasha Lv, Pierre Lachapelle, Cristian O’Flaherty, Jeffrey A. Golden, Loydie A. Jerome-Majewska

Commun Biol. 2019; 2: 375. Published online 2019 Oct 11. doi: 10.1038/s42003-019-0601-5

PMCID:: PMC6789041

Abstract Article PDF–2.2M

Select item 63619083.

A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development

Valeria Mastrodonato, Galina Beznoussenko, Alexandre Mironov, Laura Ferrari, Gianluca Deflorian, Thomas Vaccari

Sci Rep. 2019; 9: 1211. Published online 2019 Feb 4. doi: 10.1038/s41598-018-37780-4

PMCID:: PMC6361908

Abstract Article PDF–4.5M

Select item 56381534.

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature

Tina Hsu, Carrie C. Coughlin, Kristin G. Monaghan, Elise Fiala, Robert C. McKinstry, Alex R. Paciorkowski, Marwan Shinawi

Child Neurol Open. 2017 Jan-Dec; 4: 2329048X17733214. Published online 2017 Oct 8. doi: 10.1177/2329048X17733214

PMCID:: PMC5638153

Abstract Article PDF–312K

Select item 81573735.

Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts

Marie Christine Martens, Janin Edelkamp, Christina Seebode, Mirijam Schäfer, Susanne Stählke, Saskia Krohn, Ole Jung, Hugo Murua Escobar, Steffen Emmert, Lars Boeckmann

Int J Mol Sci. 2021 May; 22(10): 5293. Published online 2021 May 18. doi: 10.3390/ijms22105293

PMCID:: PMC8157373

Abstract Article PDF–2.7M

Select item 64672696.

22q and two: 22q11.2 deletion syndrome and coexisting conditions

Jennifer L. Cohen, Terrence B. Crowley, Daniel E. McGinn, Carey McDougall, Marta Unolt, Michele P. Lambert, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald-McGinn

Am J Med Genet A. Author manuscript; available in PMC 2019 Apr 16.

Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2203–2214. Published online 2018 Sep 23. doi: 10.1002/ajmg.a.40494

PMCID:: PMC6467269

Abstract Article PDF–358K

Select item 35854847.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk, Kathleen E Sullivan, Stephen T Warren, Beverly S Emanuel, Joris R Vermeesch, Elaine H Zackai, Loydie A Jerome-Majewska

J Med Genet. 2013 Feb; 50(2): 80–90. Published online 2012 Dec 11. doi: 10.1136/jmedgenet-2012-101320

PMCID:: PMC3585484

Abstract Article PDF–497K

Select item 12245278.

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J. O’Brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel

Am J Hum Genet. 2005 Aug; 77(2): 242–251. Published online 2005 Jun 20. doi: 10.1086/432556

PMCID:: PMC1224527

Abstract Article PDF–3.5M

Select item 79459529.

Activity of the SNARE Protein SNAP29 at the Endoplasmic Reticulum and Golgi Apparatus

Elena Morelli, Elisa A. Speranza, Enrica Pellegrino, Galina V. Beznoussenko, Francesca Carminati, Massimiliano Garré, Alexander A. Mironov, Marco Onorati, Thomas Vaccari

Front Cell Dev Biol. 2021; 9: 637565. Published online 2021 Feb 18. doi: 10.3389/fcell.2021.637565

PMCID:: PMC7945952

Abstract Article PDF–4.1M

Select item 450267410.

Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila

Elena Morelli, Pierpaolo Ginefra, Valeria Mastrodonato, Galina V Beznoussenko, Tor Erik Rusten, David Bilder, Harald Stenmark, Alexandre A Mironov, Thomas Vaccari

Autophagy. 2014 Dec; 10(12): 2251–2268. Published online 2015 Jan 28. doi: 10.4161/15548627.2014.981913

PMCID:: PMC4502674

Abstract Article PDF–2.4M

Select item 284120511.

Loss of SNAP29 Impairs Endocytic Recycling and Cell Motility

Debora Rapaport, Yevgenia Lugassy, Eli Sprecher, Mia Horowitz

PLoS One. 2010; 5(3): e9759. Published online 2010 Mar 18. doi: 10.1371/journal.pone.0009759

PMCID:: PMC2841205

Abstract Article PDF–4.4M

Select item 799676112.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem

Genes (Basel) 2021 Mar; 12(3): 343. Published online 2021 Feb 26. doi: 10.3390/genes12030343

PMCID:: PMC7996761

Abstract Article PDF–3.0M

Select item 566751213.

Clinical spectrum of woolly hair: indications for cerebral involvement

Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D. Praticò, Martino Ruggieri

Ital J Pediatr. 2017; 43: 99. Published online 2017 Nov 2. doi: 10.1186/s13052-017-0417-1

PMCID:: PMC5667512

Abstract Article PDF–2.1M

Select item 330918914.

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Zhimiao Lin, Quan Chen, Mingyang Lee, Xu Cao, Jie Zhang, Donglai Ma, Long Chen, Xiaoping Hu, Huijun Wang, Xiaowen Wang, Peng Zhang, Xuanzhu Liu, Liping Guan, Yiquan Tang, Haizhen Yang, Ping Tu, Dingfang Bu, Xuejun Zhu, KeWei Wang, Ruoyu Li, Yong Yang

Am J Hum Genet. 2012 Mar 9; 90(3): 558–564. doi: 10.1016/j.ajhg.2012.02.006

PMCID:: PMC3309189

Abstract Article PDF–934K

Select item 320964715.

Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis

Qiaoli Li, Michael Frank, Masashi Akiyama, Hiroshi Shimizu, Shiu-Ying Ho, Christine Thisse, Bernard Thisse, Eli Sprecher, Jouni Uitto

Dis Model Mech. 2011 Nov; 4(6): 777–785. Published online 2011 Aug 4. doi: 10.1242/dmm.007146

PMCID:: PMC3209647

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