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Items: 1 to 20 of 38

1.
A Novel Variant in VPS13B Underlying Cohen Syndrome
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Suzanne M. Leal, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
Biomed Res Int. 2023; 2023: 9993801. Published online 2023 Apr 12. doi: 10.1155/2023/9993801
PMCID:
PMC10115529
AbstractArticlePDF–604K
2.
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
Malte Zorn, Jirko Kühnisch, Sebastian Bachmann, Wenke Seifert
Sci Rep. 2022; 12: 9686. Published online 2022 Jun 11. doi: 10.1038/s41598-022-13717-w
PMCID:
PMC9188546
AbstractArticlePDF–1.8M
3.
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
Betty Bonfante, Pierre Faux, Nicolas Navarro, Javier Mendoza-Revilla, Morgane Dubied, Charlotte Montillot, Emma Wentworth, Lauriane Poloni, Ceferino Varón-González, Philip Jones, Ziyi Xiong, Macarena Fuentes-Guajardo, Sagnik Palmal, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Fan Liu, Seth M. Weinberg, John R. Shaffer, Evie Stergiakouli, Laurence J. Howe, Pirro G. Hysi, Timothy D. Spector, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Christel Thauvin-Robinet, Laurence Faivre, Caroline Costedoat, David Balding, Timothy Cox, Manfred Kayser, Laurence Duplomb, Binnaz Yalcin, Justin Cotney, Kaustubh Adhikari, Andrés Ruiz-Linares
Sci Adv. 2021 Feb; 7(6): eabc6160. Published online 2021 Feb 5. doi: 10.1126/sciadv.abc6160
PMCID:
PMC7864580
AbstractArticlePDF–6.7M
4.
Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes
You-Kyung Lee, Su-Kyeong Hwang, Soo-Kyung Lee, Jung-eun Yang, Ji-Hye Kwak, Hyunhyo Seo, Hyunjun Ahn, Yong-Seok Lee, Janghwan Kim, Chae-Seok Lim, Bong-Kiun Kaang, Jae-Hyung Lee, Jin-A Lee, Kyungmin Lee
J Clin Med. 2020 Jun; 9(6): 1886. Published online 2020 Jun 16. doi: 10.3390/jcm9061886
PMCID:
PMC7356975
AbstractArticlePDF–2.3M
5.
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee
Mol Brain. 2020; 13: 69. Published online 2020 May 6. doi: 10.1186/s13041-020-00611-7
PMCID:
PMC7203861
AbstractArticlePDF–755K
6.
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
BMC Med Genet. 2019; 20: 187. Published online 2019 Nov 21. doi: 10.1186/s12881-019-0920-x
PMCID:
PMC6873578
AbstractArticlePDF–1.0M
7.
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
Madelyn A. Gillentine, Christian P. Schaaf, Ankita Patel
Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 17.
Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2485–2488. Published online 2017 Jun 20. doi: 10.1002/ajmg.a.38328
PMCID:
PMC6240332
AbstractArticlePDF–162K
8.
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BMC Med Genet. 2017; 18: 134. Published online 2017 Nov 17. doi: 10.1186/s12881-017-0493-5
PMCID:
PMC5693559
AbstractArticlePDF–1.0M
9.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d’Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong
BMC Med Genet. 2015; 16: 41. Published online 2015 Jun 25. doi: 10.1186/s12881-015-0183-0
PMCID:
PMC4631108
AbstractArticlePDF–1.4M
10.
Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity
Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Denise Horn, Volker Haucke, Hans Christian Hennies
J Biol Chem. 2011 Oct 28; 286(43): 37665–37675. Published online 2011 Aug 24. doi: 10.1074/jbc.M111.267971
PMCID:
PMC3199510
AbstractArticlePDF–4.2M
11.
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
Veronica Parri, Eleni Katzaki, Vera Uliana, Francesca Scionti, Rossella Tita, Rosangela Artuso, Ilaria Longo, Renske Boschloo, Raymon Vijzelaar, Angelo Selicorni, Francesco Brancati, Bruno Dallapiccola, Leopoldo Zelante, Christian P Hamel, Pierre Sarda, Seema R Lalani, Rita Grasso, Sabrina Buoni, Joussef Hayek, Laurent Servais, Bert B A de Vries, Nelly Georgoudi, Sheena Nakou, Michael B Petersen, Francesca Mari, Alessandra Renieri, Francesca Ariani
Eur J Hum Genet. 2010 Oct; 18(10): 1133–1140. Published online 2010 May 12. doi: 10.1038/ejhg.2010.59
PMCID:
PMC2987453
AbstractArticlePDF–621K
12.
Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome
Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn
Am J Hum Genet. 2004 Jul; 75(1): 138–145. Published online 2004 May 20. doi: 10.1086/422219
PMCID:
PMC1181997
AbstractArticlePDF–343K
13.
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I. Traboulsi, Mette Warburg, Jean-Pierre Fryns, Reijo Norio, Graeme C. M. Black, Forbes D. C. Manson
Am J Hum Genet. 2004 Jul; 75(1): 122–127. Published online 2004 May 12. doi: 10.1086/422197
PMCID:
PMC1181995
AbstractArticlePDF–153K
14.
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F. Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa
Invest Ophthalmol Vis Sci. 2020 Sep; 61(11): 18. Published online 2020 Sep 11. doi: 10.1167/iovs.61.11.18
PMCID:
PMC7488618
AbstractArticlePDF–16M
15.
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
Juha Kolehmainen, Graeme C. M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de la Chapelle, Anna-Elina Lehesjoki
Am J Hum Genet. 2003 Jun; 72(6): 1359–1369. Published online 2003 May 2. doi: 10.1086/375454
PMCID:
PMC1180298
AbstractArticlePDF–710K
16.
Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth
Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke
J Biol Chem. 2015 Feb 6; 290(6): 3349–3358. Published online 2014 Dec 9. doi: 10.1074/jbc.M114.608174
PMCID:
PMC4319006
AbstractArticlePDF–2.8M
17.
SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors
Seiichi Koike, Reinhard Jahn
Nat Commun. 2019; 10: 1608. Published online 2019 Apr 8. doi: 10.1038/s41467-019-09617-9
PMCID:
PMC6453939
AbstractArticlePDF–5.9M
18.
Multiple Loci Influencing Hippocampal Degeneration Identified by Genome Scan
Scott A. Melville, Jacqueline Buros, Antonio R. Parrado, Badri Vardarajan, Mark W. Logue, Li Shen, Shannon L. Risacher, Alzheimer Disease Neuroimaging Initiative, Sungeun Kim, Gyungah Jun, Charles DeCarli, Kathryn L. Lunetta, Clinton T. Baldwin, Andrew J. Saykin, Lindsay A. Farrer
Ann Neurol. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Ann Neurol. 2012 Jul; 72(1): 65–75. Published online 2012 Jun 28. doi: 10.1002/ana.23644
PMCID:
PMC3405172
AbstractArticlePDF–1.0M
19.
Genome-wide association study of smoking behaviors among Bangladeshi adults
Maria Argos, Lin Tong, Brandon L. Pierce, Muhammad Rakibuz-Zaman, Alauddin Ahmed, Tariqul Islam, Mahfuzar Rahman, Rachelle Paul-Brutus, Ronald Rahaman, Shantanu Roy, Farzana Jasmine, Muhammad G. Kibriya, Habibul Ahsan
J Med Genet. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: J Med Genet. 2014 May; 51(5): 327–333. Published online 2014 Mar 24. doi: 10.1136/jmedgenet-2013-102151
PMCID:
PMC4126189
AbstractArticlePDF–672K
20.
RNF43 inhibits WNT5A-driven signaling and suppresses melanoma invasion and resistance to the targeted therapy
Tomasz Radaszkiewicz, Michaela Nosková, Kristína Gömöryová, Olga Vondálová Blanářová, Katarzyna Anna Radaszkiewicz, Markéta Picková, Ráchel Víchová, Tomáš Gybeľ, Karol Kaiser, Lucia Demková, Lucia Kučerová, Tomáš Bárta, David Potěšil, Zbyněk Zdráhal, Karel Souček, Vítězslav Bryja
eLife. 2021; 10: e65759. Published online 2021 Oct 27. doi: 10.7554/eLife.65759
PMCID:
PMC8550759
AbstractArticlePDF–7.4M

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