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Items: 1 to 20 of 427

1.
Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis
Icela Palma-Lara, Patricia García Alonso-Themann, Javier Pérez-Durán, Ricardo Godínez-Aguilar, José Bonilla-Delgado, Damián Gómez-Archila, Ana María Espinosa-García, Manuel Nolasco-Quiroga, Georgina Victoria-Acosta, Adolfo López-Ornelas, Juan Carlos Serrano-Bello, María Guadalupe Olguín-García, Carmen Palacios-Reyes
Int J Mol Sci. 2023 May; 24(10): 8904. Published online 2023 May 17. doi: 10.3390/ijms24108904
PMCID:
PMC10219294
ArticlePDF–3.6M
2.
Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report
Camelia Chirteș, Alina Bogliș, Andrea Toth, Corina Rac, Claudia Bănescu
Front Genet. 2023; 14: 1179163. Published online 2023 Apr 26. doi: 10.3389/fgene.2023.1179163
PMCID:
PMC10171555
ArticlePDF–1.1M
3.
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes
Icela Palma-Lara, Monserrat Pérez-Ramírez, Patricia García Alonso-Themann, Ana María Espinosa-García, Ricardo Godinez-Aguilar, José Bonilla-Delgado, Adolfo López-Ornelas, Georgina Victoria-Acosta, María Guadalupe Olguín-García, José Moreno, Carmen Palacios-Reyes
Int J Mol Sci. 2021 Aug; 22(15): 8039. Published online 2021 Jul 27. doi: 10.3390/ijms22158039
PMCID:
PMC8348777
ArticlePDF–3.3M
4.
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant
Nazan Eras, Yalcin Celik
Mol Syndromol. 2021 Jun; 12(3): 169–173. Published online 2021 Mar 22. doi: 10.1159/000513384
PMCID:
PMC8216011
ArticlePDF–349K
5.
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
Shruti Bajaj, Fazal Nabi, Jhanvi Shah, Harsh Sheth
BMC Pediatr. 2021; 21: 113. Published online 2021 Mar 6. doi: 10.1186/s12887-021-02582-7
PMCID:
PMC7936445
ArticlePDF–798K
6.
Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management
Lorna Hirst, Gehan Abou-Ameira, Simon Critchlow
Case Rep Pediatr. 2021; 2021: 6637180. Published online 2021 Jan 7. doi: 10.1155/2021/6637180
PMCID:
PMC7808805
ArticlePDF–385K
7.
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
Mehmet Eltan, Ceren Alavanda, Zehra Yavas Abali, Pinar Ergenekon, Nilufer Yalındag Ozturk, Mustafa Sakar, Adnan Dagcinar, Tarik Kirkgoz, Sare Betul Kaygusuz, Yasemin Gokdemir, Huriye Nursel Elcioglu, Tulay Guran, Abdullah Bereket, Pinar Ata, Serap Turan
Calcif Tissue Int. 2020; 107(1): 96–103. Published online 2020 Apr 27. doi: 10.1007/s00223-020-00694-3
PMCID:
PMC7222149
ArticlePDF–1.0M
8.
Natural history of non-lethal Raine syndrome during childhood
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Orphanet J Rare Dis. 2020; 15: 93. Published online 2020 Apr 16. doi: 10.1186/s13023-020-01373-0
PMCID:
PMC7164176
ArticlePDF–790K
9.
Two Novel FAM20C Variants in a Family with Raine Syndrome
Araceli Hernández-Zavala, Fernando Cortés-Camacho, Icela Palma-Lara, Ricardo Godínez-Aguilar, Ana María Espinosa, Javier Pérez-Durán, Patricia Villanueva-Ocampo, Carlos Ugarte-Briones, Carlos Alberto Serrano-Bello, Paula Jesús Sánchez-Santiago, José Bonilla-Delgado, Marco Antonio Yáñez-López, Georgina Victoria-Acosta, Adolfo López-Ornelas, Patricia García Alonso-Themann, José Moreno, Carmen Palacios-Reyes
Genes (Basel) 2020 Feb; 11(2): 222. Published online 2020 Feb 20. doi: 10.3390/genes11020222
PMCID:
PMC7073523
ArticlePDF–5.3M
10.
A case of Raine syndrome presenting with facial dysmorphy and review of literature
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BMC Med Genet. 2018; 19: 76. Published online 2018 May 11. doi: 10.1186/s12881-018-0593-x
PMCID:
PMC5948820
ArticlePDF–3.1M
11.
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo, James A Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Claudio Castro, Paulo Marcio Yamaguti, Lilian M Paula, David A Parry, Clare V Logan, Claire E L Smith, Colin A Johnson, Chris F Inglehearn, Alan J Mighell
BMC Med Genet. 2015; 16: 8. Published online 2015 Feb 21. doi: 10.1186/s12881-015-0154-5
PMCID:
PMC4422040
ArticlePDF–2.8M
12.
Raine syndrome
B. Vishwanath, K. Srinivasa, M. Veera Shankar
Indian J Hum Genet. 2014 Jan-Mar; 20(1): 72–74. doi: 10.4103/0971-6866.132761
PMCID:
PMC4065483
ArticlePDF–816K
13.
The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins
Hiroyuki O. Ishikawa, Aiguo Xu, Eri Ogura, Gerard Manning, Kenneth D. Irvine
PLoS One. 2012; 7(8): e42988. Published online 2012 Aug 10. doi: 10.1371/journal.pone.0042988
PMCID:
PMC3416761
ArticlePDF–1.5M
14.
Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development
M. A.  Simpson, R.  Hsu, L. S.  Keir, J.  Hao, G.  Sivapalan, L. M.  Ernst, E. H.  Zackai, L. I.  Al-Gazali, G.  Hulskamp, H. M.  Kingston, T. E.  Prescott, A.  Ion, M. A.  Patton, V.  Murday, A.  George, A. H.  Crosby
Am J Hum Genet. 2007 Nov; 81(5): 906–912. Published online 2007 Sep 14. doi: 10.1086/522240
PMCID:
PMC2265657
ArticlePDF–678K
15.
Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
Cláudio Rodrigues Rezende Costa, Rym Chalgoumi, Amina Baker, Clément Guillou, Paulo Marcio Yamaguti, Victor Simancas Escorcia, Lilia Abbad, Bruna Rabelo Amorin, Caroline Lourenço de Lima, Vidjea Cannaya, Mourad Benassarou, Ariane Berdal, Christos Chatziantoniou, Olivier Cases, Pascal Cosette, Renata Kozyraki, Ana Carolina Acevedo
Sci Rep. 2024; 14: 9497. Published online 2024 Apr 25. doi: 10.1038/s41598-024-59713-0
PMCID:
PMC11045870
ArticlePDF–9.2M
16.
Simulated resections and RNS placement can optimize post-operative seizure outcomes when guided by fast ripple networks
Shennan Aibel Weiss, Michael R. Sperling, Jerome Engel, Anli Liu, Itzhak Fried, Chengyuan Wu, Werner Doyle, Charles Mikell, Sima Mofakham, Noriko Salamon, Myung Shin Sim, Anatol Bragin, Richard Staba
Version 2. medRxiv. Preprint. 2024 Mar 28 [revised 2024 May 4]. doi: 10.1101/2024.03.26.24304802
PMCID:
PMC10996761
Article
17.
Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection
Séverin Ronneau, Charlotte Michaux, Rachel T. Giorgio, Sophie Helaine
PLoS Pathog. 2024 Feb; 20(2): e1012033. Published online 2024 Feb 29. doi: 10.1371/journal.ppat.1012033
PMCID:
PMC10903880
ArticlePDF–1.5M
18.
Gut microbiome, short-chain fatty acids, alpha-synuclein, neuroinflammation, and ROS/RNS: Relevance to Parkinson's disease and therapeutic implications
Balaraman Kalyanaraman, Gang Cheng, Micael Hardy
Redox Biol. 2024 May; 71: 103092. Published online 2024 Feb 16. doi: 10.1016/j.redox.2024.103092
PMCID:
PMC10891329
ArticlePDF–1.7M
19.
Magnetoencephalography (MEG) Data Processing in Epilepsy Patients with Implanted Responsive Neurostimulation (RNS) Devices
Pegah Askari, Natascha Cardoso da Fonseca, Tyrell Pruitt, Joseph A. Maldjian, Sasha Alick-Lindstrom, Elizabeth M. Davenport
Brain Sci. 2024 Feb; 14(2): 173. Published online 2024 Feb 9. doi: 10.3390/brainsci14020173
PMCID:
PMC10887328
ArticlePDF–4.0M
20.
L-Aminoguanidine Induces Imbalance of ROS/RNS Homeostasis and Polyamine Catabolism of Tomato Roots after Short-Term Salt Exposure
Ágnes Szepesi, László Bakacsy, Attila Fehér, Henrietta Kovács, Péter Pálfi, Péter Poór, Réka Szőllősi, Orsolya Kinga Gondor, Tibor Janda, Gabriella Szalai, Christian Lindermayr, László Szabados, Laura Zsigmond
Antioxidants (Basel) 2023 Aug; 12(8): 1614. Published online 2023 Aug 15. doi: 10.3390/antiox12081614
PMCID:
PMC10451491
ArticlePDF–6.2M

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