PMC Articles for MedGen (Select 1842273) - PMC

Xiangjian Zheng, Florence Riant, Françoise Bergametti, Cynthia D Myers, Alan T Tang, Benjamin Kleaveland, Wei Pan, Jisheng Yang, Elisabeth Tournier-Lasserve, Mark L. Kahn

Stroke. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Stroke. 2014 May; 45(5): 1505–1509. Published online 2014 Mar 18. doi: 10.1161/STROKEAHA.114.004809

PMCID:: PMC4006321

Abstract Article PDF–1.0M

Select item 40287844.

Experimental infection with equine herpesvirus type 1 (EHV-1) induces chorioretinal lesions

Gisela Soboll Hussey, Lutz S Goehring, David P Lunn, Stephen B Hussey, Teng Huang, Nikolaus Osterrieder, Cynthia Powell, Jesse Hand, Carine Holz, Josh Slater

Vet Res. 2013; 44(1): 118. Published online 2013 Dec 5. doi: 10.1186/1297-9716-44-118

PMCID:: PMC4028784

Abstract Article PDF–1.9M

Select item 40836145.

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

Peili Gu, Sandy Chang

Aging Cell. Author manuscript; available in PMC 2014 Jul 7.

Published in final edited form as: Aging Cell. 2013 Dec; 12(6): 1100–1109. Published online 2013 Sep 4. doi: 10.1111/acel.12139

PMCID:: PMC4083614

Abstract Article PDF–2.1M

Select item 42223626.

Lack of CCM1 induces hypersprouting and impairs response to flow

Tara M. Mleynek, Aubrey C. Chan, Michael Redd, Christopher C. Gibson, Chadwick T. Davis, Dallas S. Shi, Tiehua Chen, Kandis L. Carter, Jing Ling, Raquel Blanco, Holger Gerhardt, Kevin Whitehead, Dean Y. Li

Hum Mol Genet. 2014 Dec 1; 23(23): 6223–6234. Published online 2014 Jul 2. doi: 10.1093/hmg/ddu342

PMCID:: PMC4222362

Abstract Article PDF–1.8M

Select item 42727807.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating, Carmen Ayuso

Orphanet J Rare Dis. 2014; 9: 190. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0190-9

PMCID:: PMC4272780

Abstract Article PDF–1.7M

Select item 43147468.

Retinal pericytes and cytomegalovirus infectivity: implications for HCMV-induced retinopathy and congenital ocular disease

Irene Wilkerson, Joshua Laban, Johnathan M Mitchell, Nader Sheibani, Donald J Alcendor

J Neuroinflammation. 2015; 12: 2. Published online 2015 Jan 9. doi: 10.1186/s12974-014-0219-y

PMCID:: PMC4314746

Abstract Article PDF–3.0M

Select item 45838859.

Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family

Yu-Hua Fan, Jian Sun, Yun Yuan, Ling Chen, Zhong Pei, Shi-Hui Xing, Bing Liao, Jin-Sheng Zeng

Int J Clin Exp Pathol. 2015; 8(8): 9105–9111. Published online 2015 Aug 1.

PMCID:: PMC4583885

Abstract Article PDF–780K

Select item 471486010.

Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function

Angel C. Y. Mak, Clive R. Pullinger, Ling Fung Tang, Jinny S. Wong, Rahul C. Deo, Jean-Marc Schwarz, Alejandro Gugliucci, Irina Movsesyan, Brian Y. Ishida, Catherine Chu, Annie Poon, Phillip Kim, Eveline O. Stock, Ernst J. Schaefer, Bela F. Asztalos, Joseph M. Castellano, Tony Wyss-Coray, Jacque L. Duncan, Bruce L. Miller, John P. Kane, Pui-Yan Kwok, Mary J. Malloy

JAMA Neurol. Author manuscript; available in PMC 2016 Jan 15.

Published in final edited form as: JAMA Neurol. 2014 Oct; 71(10): 1228–1236. doi: 10.1001/jamaneurol.2014.2011

PMCID:: PMC4714860

Abstract Article PDF–551K

Select item 485417411.

NRP1 function and targeting in neurovascular development and eye disease

Claudio Raimondi, James T. Brash, Alessandro Fantin, Christiana Ruhrberg

Prog Retin Eye Res. 2016 May; 52: 64–83. doi: 10.1016/j.preteyeres.2016.02.003

PMCID:: PMC4854174

Abstract Article PDF–2.7M

Select item 485832512.

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction

Ivana Vodopivec, Derek H. Oakley, Cory A. Perugino, Nagagopal Venna, E. Tessa Hedley-Whyte, John H. Stone

Ann Neurol. Author manuscript; available in PMC 2016 May 5.

Published in final edited form as: Ann Neurol. 2016 Apr; 79(4): 507–519. Published online 2016 Mar 7. doi: 10.1002/ana.24583

PMCID:: PMC4858325

Abstract Article PDF–1.8M

Select item 488823813.

The retinal pigment epithelium as a gateway for monocyte trafficking into the eye

Inbal Benhar, Kitty Reemst, Vyacheslav Kalchenko, Michal Schwartz

EMBO J. 2016 Jun 1; 35(11): 1219–1235. Published online 2016 Apr 22. doi: 10.15252/embj.201694202

PMCID:: PMC4888238

Abstract Article PDF–1.9M

Select item 495524814.

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park, Moon-Woo Seong

BMC Med Genet. 2016; 17: 48. Published online 2016 Jul 20. doi: 10.1186/s12881-016-0306-2

PMCID:: PMC4955248

Abstract Article PDF–888K

Select item 499040315.

Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

Ping Yuan, Qipeng Sun, Hao Liang, Wenjun Wang, Ling Li, Ye Wang, Huan Deng, Luhua Lai, Xiaoli Chen, Xiangfu Zhou

Cancer Biol Ther. 2016 Jun; 17(6): 599–603. Published online 2016 Apr 8. doi: 10.1080/15384047.2016.1167293

PMCID:: PMC4990403

Abstract Article PDF–568K

Select item 379998316.

The VHL tumor suppressor and HIF: insights from genetic studies in mice

PP Kapitsinou, VH Haase

Cell Death Differ. Author manuscript; available in PMC 2013 Oct 19.

Published in final edited form as: Cell Death Differ. 2008 Apr; 15(4): 650–659. Published online 2008 Jan 25. doi: 10.1038/sj.cdd.4402313

PMCID:: PMC3799983

Abstract Article PDF–2.3M

Select item 501460717.

Augmented endothelial exocytosis of angiopoietin-2 resulting from CCM3-deficiency contributes to the progression of cerebral cavernous malformation

Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S. Kluger, Dianqing Wu, Wang Min

Nat Med. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Nat Med. 2016 Sep; 22(9): 1033–1042. Published online 2016 Aug 22. doi: 10.1038/nm.4169

PMCID:: PMC5014607

Abstract Article PDF–2.2M

Select item 512193018.

Von Hippel–Lindau disease

PRASHANT CHITTIBOINA, RUSSELL R. LONSER

Handb Clin Neurol. Author manuscript; available in PMC 2016 Nov 24.

Published in final edited form as: Handb Clin Neurol. 2015; 132: 139–156. doi: 10.1016/B978-0-444-62702-5.00010-X

PMCID:: PMC5121930

Article PDF–1.1M

Select item 542117319.

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Xiao-Jing Fang, Meng Yu, Yuan Wu, Zi-Hao Zhang, Wei-Wei Wang, Zhao-Xia Wang, Yun Yuan

Chin Med J (Engl) 2017 May 5; 130(9): 1042–1048. doi: 10.4103/0366-6999.204935

PMCID:: PMC5421173

Abstract Article PDF–945K

Select item 550088720.

Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function

Chi Zhang, Maria B. Lai, Lavan Khandan, Lindsey A. Lee, Zhe Chen, Harald J. Junge

Nat Commun. 2017; 8: 16050. Published online 2017 Jul 4. doi: 10.1038/ncomms16050

PMCID:: PMC5500887

Abstract Article PDF–6.5M

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