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Items: 11

1.
Ten-eleven translocation protein 1 modulates medulloblastoma progression
Hyerim Kim, Yunhee Kang, Yujing Li, Li Chen, Li Lin, Nicholas D. Johnson, Dan Zhu, M. Hope Robinson, Leon McSwain, Benjamin G. Barwick, Xianrui Yuan, Xinbin Liao, Jie Zhao, Zhiping Zhang, Qiang Shu, Jianjun Chen, Emily G. Allen, Anna M. Kenney, Robert C. Castellino, Erwin G. Van Meir, Karen N. Conneely, Paula M. Vertino, Peng Jin, Jian Li
Genome Biol. 2021; 22: 125. Published online 2021 Apr 29. doi: 10.1186/s13059-021-02352-9
PMCID:
PMC8082834
AbstractArticlePDF–2.3M
2.
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Eur J Hum Genet. 2019 Apr; 27(4): 525–534. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0326-9
PMCID:
PMC6460637
AbstractArticlePDF–1.2M
3.
A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review
Liang Huo, Ziteng Teng, Hua Wang, Xueyan Liu
Brain Behav. 2019 Mar; 9(3): e01221. Published online 2019 Feb 4. doi: 10.1002/brb3.1221
PMCID:
PMC6422709
AbstractArticlePDF–432K
4.
A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study
Hidenori Sato, Yoshimi Takahashi, Luna Kimihira, Chifumi Iseki, Hajime Kato, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Shingo Koyama, Shigeki Arawaka, Toru Kawanami, Masakazu Miyajima, Naoyuki Samejima, Shinya Sato, Masahiro Kameda, Shinya Yamada, Daisuke Kita, Mitsunobu Kaijima, Isao Date, Yukihiko Sonoda, Takamasa Kayama, Nobumasa Kuwana, Hajime Arai, Takeo Kato
PLoS One. 2016; 11(11): e0166615. Published online 2016 Nov 18. doi: 10.1371/journal.pone.0166615
PMCID:
PMC5115754
AbstractArticlePDF–1.6M
5.
The Zebrafish Orthologue of the Dyslexia Candidate Gene DYX1C1 Is Essential for Cilia Growth and Function
Gayathri Chandrasekar, Liselotte Vesterlund, Kjell Hultenby, Isabel Tapia-Páez, Juha Kere
PLoS One. 2013; 8(5): e63123. Published online 2013 May 1. doi: 10.1371/journal.pone.0063123
PMCID:
PMC3641089
AbstractArticlePDF–1.4M
6.
Sporadic Obstructive Hydrocephalus in Aqp4 Null Mice
Xuechao Feng, Marios C. Papadopoulos, Jun Liu, Lihua Li, Di Zhang, Hongguo Zhang, A. S. Verkman, Tonghui Ma
J Neurosci Res. Author manuscript; available in PMC 2013 Feb 26.
Published in final edited form as: J Neurosci Res. 2009 Apr; 87(5): 1150–1155. doi: 10.1002/jnr.21927
PMCID:
PMC3582395
AbstractArticlePDF–1.4M
7.
Clinical characteristics and therapeutic outcomes of nosocomial super-infection in adult bacterial meningitis
Chi-Ren Huang, Shu-Fang Chen, Cheng-Hsien Lu, Yao-Chung Chuang, Nai-Wen Tsai, Chiung-Chih Chang, Hung-Chen Wang, Chun-Chih Chien, Wen-Neng Chang
BMC Infect Dis. 2011; 11: 133. Published online 2011 May 18. doi: 10.1186/1471-2334-11-133
PMCID:
PMC3118143
AbstractArticlePDF–218K
8.
Evidence for associations between the purinergic receptor P2X7 (P2RX7) and toxoplasmosis
Sarra E. Jamieson, Alba L. Peixoto-Rangel, Aubrey C. Hargrave, Lee-Anne de Roubaix, Ernest J. Mui, Nicola R. Boulter, E. Nancy Miller, Stephen J. Fuller, James S. Wiley, Léa Castellucci, Kenneth Boyer, Ricardo Guerra Peixe, Michael J. Kirisits, Liliani de Souza Elias, Jessica J. Coyne, Rodrigo Correa-Oliveira, Mari Sautter, Nicholas C. Smith, Michael P. Lees, Charles N. Swisher, Peter Heydemann, A. Gwendolyn Noble, Dushyant Patel, Dianna Bardo, Delilah Burrowes, David McLone, Nancy Roizen, Shawn Withers, Lílian M. G. Bahia-Oliveira, Rima McLeod, Jenefer M. Blackwell
Genes Immun. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Genes Immun. 2010 Jul; 11(5): 374–383. Published online 2010 Jun 10. doi: 10.1038/gene.2010.31
PMCID:
PMC2908187
AbstractArticlePDF–684K
9.
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske, Elliott H Sherr, Ayesha Ahmad, Roxana Peters, Benedict Rilliet, Paloma Parvex, Alexander G Bassuk, David J Harris, Heather Ferguson, Chantal Kelly, Christopher A Walsh, Richard M Gronostajski, Koenraad Devriendt, Anne Higgins, Azra H Ligon, Bradley J Quade, Cynthia C Morton, James F Gusella, Richard L Maas
PLoS Genet. 2007 May; 3(5): e80. Published online 2007 May 25. doi: 10.1371/journal.pgen.0030080
PMCID:
PMC1877820
AbstractArticlePDF–1.4M
10.
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald, Michael A Walter
BMC Med Genet. 2004; 5: 17. Published online 2004 Jun 25. doi: 10.1186/1471-2350-5-17
PMCID:
PMC455682
AbstractArticlePDF–543K
11.
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene
Lucie Šedová, Ivana Buková, Pavla Bažantová, Silvia Petrezsélyová, Jan Prochazka, Elena Školníková, Dagmar Zudová, Josef Včelák, Pavol Makovický, Běla Bendlová, Ondřej Šeda, Radislav Sedlacek
Int J Mol Sci. 2021 Apr; 22(8): 3810. Published online 2021 Apr 7. doi: 10.3390/ijms22083810
PMCID:
PMC8067621
AbstractArticlePDF–3.3M

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