PMC Articles for MedGen (Select 892534) - PMC

Baul Yoon, Pan Yeung, Nicholas Santistevan, Lauren E. Bluhm, Kenta Kawasaki, Janina Kueper, Richard Dubielzig, Jennifer VanOudenhove, Justin Cotney, Eric C. Liao, Yevgenya Grinblat

Biol Open. 2022 May 15; 11(5): bio059189. Published online 2022 May 26. doi: 10.1242/bio.059189

PMCID:: PMC9167625

Article PDF–5.1M

Select item 89889135.

Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia

Anna Wrobeln, Tristan Leu, Jadwiga Jablonska, Urban Geisthoff, Stephan Lang, Joachim Fandrey, Freya Droege

Sci Rep. 2022; 12: 5877. Published online 2022 Apr 7. doi: 10.1038/s41598-022-09759-9

PMCID:: PMC8988913

Article PDF–2.0M

Select item 82098996.

Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage

Lauren W. Wang, Wendy E. Kutz, Timothy J. Mead, Lauren C. Beene, Shweta Singh, Michael W. Jenkins, Dieter P. Reinhardt, Suneel S. Apte

Matrix Biol. Author manuscript; available in PMC 2021 Jun 17.

Published in final edited form as: Matrix Biol. 2019 Apr; 77: 117–128. Published online 2018 Sep 7. doi: 10.1016/j.matbio.2018.09.004

PMCID:: PMC8209899

Article PDF–1.8M

Select item 81748607.

Prominent Basal Emissary Foramina in Syndromic Craniosynostosis: Correlation with Phenotypic and Molecular Diagnoses

Caroline D. Robson, John B. Mulliken, Richard L. Robertson, Mark R. Proctor, Daniela Steinberger, Patrick D. Barnes, Alicia McFarren, Ulrich Müller, David Zurakowski

AJNR Am J Neuroradiol. 2000 Oct; 21(9): 1707–1717.

PMCID:: PMC8174860

Article PDF–248K

Select item 79762138.

Agenesis of Bilateral Internal Carotid Arteries and Posterior Fossa Abnormality in a Patient with Facial Capillary Hemangioma: Presumed Incomplete Phenotypic Expression of PHACE Syndrome

Young-Cheol Weon, Jin-Il Chung, Hyung-Jin Kim, Hong sik Byun

AJNR Am J Neuroradiol. 2005 Nov; 26(10): 2635–2639.

PMCID:: PMC7976213

Article PDF–379K

Select item 76071729.

Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia

Tamás Major, Csaba Csobay-Novák, Réka Gindele, Zsuzsanna Szabó, László Bora, Natália Jóni, Tamás Rácz, Tamás Karosi, Zsuzsanna Bereczky

J Int Med Res. 2020 Feb; 48(2): 0300060519860971. Published online 2019 Sep 11. doi: 10.1177/0300060519860971

PMCID:: PMC7607172

Article PDF–437K

Select item 757630110.

CircC3P1 attenuated pro‐inflammatory cytokine production and cell apoptosis in acute lung injury induced by sepsis through modulating miR‐21

Wen‐Yang Jiang, Jie Ren, Xing‐Hua Zhang, Zi‐Long Lu, Hao‐Jie Feng, Xiao‐Li Yao, Dong‐Hang Li, Rui Xiong, Tao Fan, Qing Geng

J Cell Mol Med. 2020 Oct; 24(19): 11221–11229. Published online 2020 Aug 26. doi: 10.1111/jcmm.15685

PMCID:: PMC7576301

Article PDF–1.4M

Select item 746956911.

Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease

Meysam Yazdankhah, Peng Shang, Sayan Ghosh, Imran A. Bhutto, Nadezda Stepicheva, Rhonda Grebe, Stacey Hose, Joseph Weiss, Tianqi Luo, Subrata Mishra, S. Amer Riazuddin, Arkasubhra Ghosh, James T. Handa, Gerard A. Lutty, J. Samuel Zigler, Jr, Debasish Sinha

Autophagy. 2020; 16(6): 1130–1142. Published online 2019 Sep 1. doi: 10.1080/15548627.2019.1660545

PMCID:: PMC7469569

Article PDF–3.7M

Select item 734163812.

Unilateral and segmental distribution of facial erythema: is it a real port-wine stain?

Qingqing Cen, Yi Sun, Xiaojing Zeng, Yun Liu, Fatao Liu, Hui Chen, Xiaoxi Lin, Ren Cai

Hereditas. 2020; 157: 27. Published online 2020 Jul 7. doi: 10.1186/s41065-020-00143-z

PMCID:: PMC7341638

Article PDF–2.7M

Select item 731146213.

Hyaloid vasculature and mmp2 activity play a role during optic fissure fusion in zebrafish

Megan L. Weaver, Warlen P. Piedade, Nishita N. Meshram, Jakub K. Famulski

Sci Rep. 2020; 10: 10136. Published online 2020 Jun 23. doi: 10.1038/s41598-020-66451-6

PMCID:: PMC7311462

Article PDF–11M

Select item 703863214.

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie E. Hoover-Fong

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 24.

Published in final edited form as: Am J Med Genet A. 2019 Mar; 179(3): 410–416. Published online 2019 Jan 23. doi: 10.1002/ajmg.a.61037

PMCID:: PMC7038632

Article PDF–183K

Select item 697947415.

Venous Sinus Stenting for Transverse Sinus Stenosis Associated with Leptomeningeal Carcinomatosis in a Patient with Epidermal Growth Factor Receptor-Mutated Lung Cancer: A Case Report

Yasuhiro Kawabata, Norio Nakajima, Hidenori Miyake, Yasumasa Yamamoto, Shintaro Toda, Yasuji Terada, Mamoru Takahashi, Masafumi Kurimoto

Am J Case Rep. 2020; 21: e918488-1–e918488-5. Published online 2020 Jan 13. doi: 10.12659/AJCR.918488

PMCID:: PMC6979474

Article PDF–1.8M

Select item 677931516.

Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father

Diane M. Pierson, Eugenio M. Taboada, Gary K. Lofland, Michael L. Begleiter, Gregory S. Smith, Frederick Hall, Merlin G. Butler

Clin Dysmorphol. Author manuscript; available in PMC 2019 Oct 7.

Published in final edited form as: Clin Dysmorphol. 2001 Apr; 10(2): 95–99. doi: 10.1097/00019605-200104000-00004

PMCID:: PMC6779315

Article PDF–1.1M

Select item 674379617.

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

Maria de los Angeles Serrano, Bradley L. Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H. Joseph Yost

PLoS Biol. 2019 Sep; 17(9): e3000087. Published online 2019 Sep 3. doi: 10.1371/journal.pbio.3000087

PMCID:: PMC6743796

Article PDF–7.8M

Select item 630942018.

Characterization of endothelial cilia distribution during cerebral-vascular development in zebrafish (Danio rerio)

Shahram Eisa-Beygi, Fatiha M. Benslimane, Suzan El-Rass, Shubhangi Prabhudesai, Mahmoud Khatib Ali Abdelrasool, Pippa M. Simpson, Huseyin C. Yalcin, Patricia E. Burrows, Ramani Ramchandran

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2018 Dec; 38(12): 2806–2818. doi: 10.1161/ATVBAHA.118.311231

PMCID:: PMC6309420

Article PDF–1.4M

Select item 622416619.

Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency

Mahalia Page, Liam Ridge, Diana Gold Diaz, Tsolmon Tsogbayar, Peter J. Scambler, Sarah Ivins

PLoS One. 2018; 13(11): e0207251. Published online 2018 Nov 8. doi: 10.1371/journal.pone.0207251

PMCID:: PMC6224166

Article PDF–3.3M

Select item 620319320.

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report

Kenji Gonda, Yosuke Tachiya, Yuichi Hatakeyama, Tomoyuki Momma, Tomoko Tamaoki, Yuko Maejima, Yuichi Rokkaku, Shigehira Saji, Kenju Shimomura, Koji Kono

J Med Case Rep. 2018; 12: 312. Published online 2018 Oct 26. doi: 10.1186/s13256-018-1823-8