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Items: 1 to 20 of 43

1.
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
Li’na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei
BMC Pediatr. 2019; 19: 68. Published online 2019 Feb 27. doi: 10.1186/s12887-019-1440-8
PMCID:
PMC6394075
AbstractArticlePDF–1000K
2.
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Genome Med. 2018; 10: 3. Published online 2018 Jan 9. doi: 10.1186/s13073-017-0510-5
PMCID:
PMC5759841
AbstractArticlePDF–842K
3.
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
Yonatan Perez, Ohad Wormser, Yair Sadaka, Ruth Birk, Ginat Narkis, Ohad S. Birk
Biomed Res Int. 2017; 2017: 3470234. Published online 2017 Oct 8. doi: 10.1155/2017/3470234
PMCID:
PMC5651094
AbstractArticlePDF–1.7M
4.
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Mario Ćuk, Danijela Petković Ramadža, Ulrike Krüger, Stephanie Demuth, Wolfram Heinritz, Tobias Linden, Jens Koenig, Peter N Robinson, Peter Krawitz
Eur J Hum Genet. 2014 Jun; 22(6): 762–767. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.241
PMCID:
PMC4023216
AbstractArticlePDF–1.5M
5.
A brain-specific angiogenic mechanism enabled by tip cell specialization
Giel Schevenels, Pauline Cabochette, Michelle America, Arnaud Vandenborne, Line De Grande, Stefan Guenther, Liqun He, Marc Dieu, Basile Christou, Marjorie Vermeersch, Raoul F. V. Germano, David Perez-Morga, Patricia Renard, Maud Martin, Michael Vanlandewijck, Christer Betsholtz, Benoit Vanhollebeke
Nature. 2024; 628(8009): 863–871. Published online 2024 Apr 3. doi: 10.1038/s41586-024-07283-6
PMCID:
PMC11041701
AbstractArticlePDF–79M
6.
PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange
JIMD Rep. 2023 Nov; 64(6): 424–433. Published online 2023 Sep 20. doi: 10.1002/jmd2.12396
PMCID:
PMC10623102
AbstractArticlePDF–1.9M
7.
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation
Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster
Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.
Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003
PMCID:
PMC10569059
AbstractArticlePDF–2.0M
8.
Improving Rice Leaf Shape Using CRISPR/Cas9-Mediated Genome Editing of SRL1 and Characterizing Its Regulatory Network Involved in Leaf Rolling through Transcriptome Analysis
Yue Han, Jinlian Yang, Hu Wu, Fang Liu, Baoxiang Qin, Rongbai Li
Int J Mol Sci. 2023 Jul; 24(13): 11087. Published online 2023 Jul 4. doi: 10.3390/ijms241311087
PMCID:
PMC10342453
AbstractArticlePDF–2.7M
9.
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208
PMCID:
PMC10298423
AbstractArticlePDF–401K
10.
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Miles D. Thompson, Xueying Li, Michele Spencer-Manzon, Danielle M. Andrade, Yoshiko Murakami, Taroh Kinoshita, Thomas O. Carpenter
Genes (Basel) 2023 Feb; 14(2): 359. Published online 2023 Jan 30. doi: 10.3390/genes14020359
PMCID:
PMC9957281
AbstractArticlePDF–1.5M
11.
Sperm hyaluronidase is critical to mammals’ fertilization for its ability to disperse cumulus–oocyte complex layer
Dong-Won Seol, Sang Hoon Joo, Young-Hyun Kim, Bong-Seok Song, Bo-Woong Sim, Sun-Uk Kim, Soojin Park, Gabbine Wee, Ekyune Kim
Asian J Androl. 2022 Jul-Aug; 24(4): 411–415. Published online 2021 Nov 30. doi: 10.4103/aja202176
PMCID:
PMC9295470
AbstractArticlePDF–1.0M
12.
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel
Front Neurol. 2021; 12: 758899. Published online 2022 Jan 4. doi: 10.3389/fneur.2021.758899
PMCID:
PMC8763846
AbstractArticlePDF–1.1M
13.
The Role of T Lymphocytes in the Pathogenesis of Paroxysmal Nocturnal Hemoglobinuria
Chenyuan Li, Xifeng Dong, Huaquan Wang, Zonghong Shao
Front Immunol. 2021; 12: 777649. Published online 2021 Dec 24. doi: 10.3389/fimmu.2021.777649
PMCID:
PMC8739213
AbstractArticlePDF–7.1M
14.
Glypican 4 mediates Wnt transport between germ layers via signaling filopodia
Bo Hu, Juan J. Rodriguez, Anurag Kakkerla Balaraju, Yuanyuan Gao, Nhan T. Nguyen, Heston Steen, Saeb Suhaib, Songhai Chen, Fang Lin
J Cell Biol. 2021 Dec 6; 220(12): e202009082. Published online 2021 Sep 30. doi: 10.1083/jcb.202009082
PMCID:
PMC8488972
AbstractArticlePDF–12M
15.
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review
Przemyslaw Kosinski, Milena Greczan, Aleksandra Jezela-Stanek
Front Genet. 2021; 12: 674722. Published online 2021 Jun 7. doi: 10.3389/fgene.2021.674722
PMCID:
PMC8215573
AbstractArticlePDF–218K
16.
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Guido Rubboli
Front Genet. 2021; 12: 663643. Published online 2021 May 11. doi: 10.3389/fgene.2021.663643
PMCID:
PMC8148046
AbstractArticlePDF–890K
17.
Chitosan and Chitin Deacetylase Activity Are Necessary for Development and Virulence of Ustilago maydis
Yanina S. Rizzi, Petra Happel, Sandra Lenz, Mounashree J. Urs, Martin Bonin, Stefan Cord-Landwehr, Ratna Singh, Bruno M. Moerschbacher, Regine Kahmann
mBio. 2021 Mar-Apr; 12(2): e03419-20. Published online 2021 Mar 2. doi: 10.1128/mBio.03419-20
PMCID:
PMC8092297
AbstractArticlePDF–5.1M
18.
LLG2/3 Are Co-receptors in BUPS/ANX-RALF Signaling to Regulate Arabidopsis Pollen Tube Integrity
Zengxiang Ge, Yuling Zhao, Ming-Che Liu, Liang-Zi Zhou, Lele Wang, Sheng Zhong, Saiying Hou, Jiahao Jiang, Tianxu Liu, Qingpei Huang, Junyu Xiao, Hongya Gu, Hen-Ming Wu, Juan Dong, Thomas Dresselhaus, Alice Y. Cheung, Li-Jia Qu
Curr Biol. Author manuscript; available in PMC 2020 Apr 23.
Published in final edited form as: Curr Biol. 2019 Oct 7; 29(19): 3256–3265.e5. Published online 2019 Sep 26. doi: 10.1016/j.cub.2019.08.032
PMCID:
PMC7179479
AbstractArticlePDF–1.8M
19.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Baranano, Jessica R. Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard E. Person, Ange-Line Bruel, Christel Thauvin-Robinet, Athina Ververi, Catherine DeVile, Alison Male, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph Gleeson, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2020 Apr 2; 106(4): 484–495. Published online 2020 Mar 26. doi: 10.1016/j.ajhg.2020.03.001
PMCID:
PMC7118585
AbstractArticlePDF–2.8M
20.
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson
Orphanet J Rare Dis. 2020; 15: 40. Published online 2020 Feb 4. doi: 10.1186/s13023-020-1313-0
PMCID:
PMC7001271
AbstractArticlePDF–2.3M

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