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Select item 97638771.

Use of Recombinant CP2 and CP23 Antigens of Cryptosporidium parvum for Serodiagnosis of Human Cryptosporidiosis

Gholamreza Barzegar, Ehsan Ahmadpour, Bahador Shahriari, Rahmat Solgi, Mohammad Hossein Motazedian

Iran Biomed J. 2022 Sep; 26(5): 374–379. Published online 2022 Oct 29. doi: 10.52547/ibj.3801

PMCID:: PMC9763877

Abstract Article PDF–591K

Select item 93039152.

OFD1: One gene, several disorders

Nunziana Pezzella, Guglielmo Bove, Roberta Tammaro, Brunella Franco

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 57–71. Published online 2022 Feb 2. doi: 10.1002/ajmg.c.31962

PMCID:: PMC9303915

Abstract Article PDF–2.5M

Select item 73438763.

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi, Yosra Falfoul, Ahmed Turki, Asma Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, Leila El Matri

Sci Rep. 2020; 10: 11199. Published online 2020 Jul 8. doi: 10.1038/s41598-020-67792-y

PMCID:: PMC7343876

Abstract Article PDF–2.9M

Select item 59232954.

Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice

Ayumi Nakagaki, Asuka Urakawa, Shiori Hirano, Takeru Anami, Tatsuya Kishino

Sci Rep. 2018; 8: 6638. Published online 2018 Apr 27. doi: 10.1038/s41598-018-25001-x

PMCID:: PMC5923295

Abstract Article PDF–2.0M

Select item 56380415.

Generation and Characterization of Col10a1-mCherry Reporter Mice

Peter Maye, Yu Fu, David L. Butler, Kumar Chokalingam, Yaling Liu, Jane Floret, Mary Louise Stover, Richard Wenstrup, Xi Jiang, Cindi Gooch, David Rowe

Genesis. Author manuscript; available in PMC 2017 Oct 12.

Published in final edited form as: Genesis. 2011 May; 49(5): 410–418. doi: 10.1002/dvg.20733

PMCID:: PMC5638041

Abstract Article PDF–1.0M

Select item 34067596.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

Select item 27441307.

TGF-ß activates Akt kinase via a microRNA-dependent amplifying circuit targeting PTEN

Mitsuo Kato, Sumanth Putta, Mei Wang, Hang Yuan, Linda Lanting, Indu Nair, Amanda Gunn, Yoshimi Nakagawa, Hitoshi Shimano, Ivan Todorov, John J. Rossi, Rama Natarajan

Nat Cell Biol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Nat Cell Biol. 2009 Jul; 11(7): 881–889. Published online 2009 Jun 21. doi: 10.1038/ncb1897

PMCID:: PMC2744130

Abstract Article PDF–2.0M

Select item 17796298.

BAC constructs in transgenic reporter mouse lines control efficient and specific LacZ expression in hypertrophic chondrocytes under the complete Col10a1 promoter

Sonja Gebhard, Takako Hattori, Eva Bauer, Michael R. Bösl, Britta Schlund, Ernst Pöschl, Nadia Adam, Benoit de Crombrugghe, Klaus von der Mark

Histochem Cell Biol. 2007 Feb; 127(2): 183–194. Published online 2006 Oct 19. doi: 10.1007/s00418-006-0236-8

PMCID:: PMC1779629

Abstract Article PDF–652K

Select item 10425929.

X-linked retinitis pigmentosa.

A. C. Bird

Br J Ophthalmol. 1975 Apr; 59(4): 177–199. doi: 10.1136/bjo.59.4.177

PMCID:: PMC1042592

Summary Page Browse PDF–5.5M

Select item 55297910.

Segmental trisomy of chromosome 17: A mouse model of human aneuploidy syndromes

Tomáš Vacík, Michael Ort, Soňa Gregorová, Petr Strnad, Radek Blatný, Nathalie Conte, Allan Bradley, Jan Bureš, Jiří Forejt

Proc Natl Acad Sci U S A. 2005 Mar 22; 102(12): 4500–4505. Published online 2005 Mar 8. doi: 10.1073/pnas.0500802102

PMCID:: PMC552979

Abstract Article PDF–424K

Select item 638807411.

Ablation of NTPDase2+ cells inhibits the formation of filiform papillae in tongue tip

Feng Li, Bo‐Wen Niu, Meng‐Min Zhu

Animal Model Exp Med. 2018 Jun; 1(2): 143–151. Published online 2018 Jul 28. doi: 10.1002/ame2.12021

PMCID:: PMC6388074

Abstract Article PDF–2.3M

Select item 301633712.

Identification and Characterization of Ixodes scapularis Antigens That Elicit Tick Immunity Using Yeast Surface Display

Tim J. Schuijt, Sukanya Narasimhan, Sirlei Daffre, Kathleen DePonte, Joppe W. R. Hovius, Cornelis van't Veer, Tom van der Poll, Kamran Bakhtiari, Joost C. M. Meijers, Eric T. Boder, Alje P. van Dam, Erol Fikrig

PLoS One. 2011; 6(1): e15926. Published online 2011 Jan 5. doi: 10.1371/journal.pone.0015926

PMCID:: PMC3016337

Abstract Article PDF–658K

Select item 172299313.

Ophthalmic and visual profile of guide dog owners in Scotland

K Refson, A Jackson, A Dusoir, D Archer

Br J Ophthalmol. 1999 Apr; 83(4): 470–477. doi: 10.1136/bjo.83.4.470

PMCID:: PMC1722993

Summary PDF–134K

Select item 122183514.

Cloning and identification of MYPT3: a prenylatable myosin targetting subunit of protein phosphatase 1.

J A Skinner, A R Saltiel

Biochem J. 2001 May 15; 356(Pt 1): 257–267. doi: 10.1042/0264-6021:3560257

PMCID:: PMC1221835

Summary PDF–289K

Select item 1117226315.

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes

Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R. Krawczynski

Int J Mol Sci. 2024 Jun; 25(11): 5759. Published online 2024 May 25. doi: 10.3390/ijms25115759

PMCID:: PMC11172263

Abstract Article PDF–2.1M

Select item 1114856216.

Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system

Iain S. Forrest, Áine Duffy, Joshua K. Park, Ha My T. Vy, Louis R. Pasquale, Girish N. Nadkarni, Judy H. Cho, Ron Do

Cell Rep Med. 2024 May 21; 5(5): 101518. Published online 2024 Apr 19. doi: 10.1016/j.xcrm.2024.101518

PMCID:: PMC11148562

Abstract Article PDF–2.7M

Select item 1114517917.

Spatial Architecture of Myeloid and T Cells Orchestrates Immune Evasion and Clinical Outcome in Lung Cancer

Katey S.S. Enfield, Emma Colliver, Claudia Lee, Alastair Magness, David A. Moore, Monica Sivakumar, Kristiana Grigoriadis, Oriol Pich, Takahiro Karasaki, Philip S. Hobson, Dina Levi, Selvaraju Veeriah, Clare Puttick, Emma L. Nye, Mary Green, Krijn K. Dijkstra, Masako Shimato, Ayse U. Akarca, Teresa Marafioti, Roberto Salgado, Allan Hackshaw, TRACERx consortium, Mariam Jamal-Hanjani, Febe van Maldegem, Nicholas McGranahan, Benjamin Glass, Hanna Pulaski, Eric Walk, James L. Reading, Sergio A. Quezada, Crispin T. Hiley, Julian Downward, Erik Sahai, Charles Swanton, Mihaela Angelova

Cancer Discov. 2024 Jun 3; 14(6): 1018–1047. Published online 2024 Apr 12. doi: 10.1158/2159-8290.CD-23-1380

PMCID:: PMC11145179

Abstract Article PDF–26M

Select item 1113964618.

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome

Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Dec; 256: 186–195. doi: 10.1016/j.ajo.2023.06.026

PMCID:: PMC11139646

Abstract Article PDF–1.4M

Select item 1113947519.

Neurexins control the strength and precise timing of glycinergic inhibition in the auditory brainstem

He-Hai Jiang, Ruoxuan Xu, Xiupeng Nie, Zhenghui Su, Xiaoshan Xu, Ruiqi Pang, Yi Zhou, Fujun Luo

eLife. 2024; 13: RP94315. Published online 2024 May 30. doi: 10.7554/eLife.94315

PMCID:: PMC11139475

Abstract Article PDF–6.4M

Select item 1110877220.

An Omicron-specific, self-amplifying mRNA booster vaccine for COVID-19: a phase 2/3 randomized trial

Amit Saraf, Rohan Gurjar, Swarnendu Kaviraj, Aishwarya Kulkarni, Durgesh Kumar, Ruta Kulkarni, Rashmi Virkar, Jayashri Krishnan, Anjali Yadav, Ekta Baranwal, Ajay Singh, Arjun Raghuwanshi, Praveen Agarwal, Laxman Savergave, Sanjay Singh, the GEMCOVAC-OM Study Investigators

Nat Med. 2024; 30(5): 1363–1372. Published online 2024 Apr 18. doi: 10.1038/s41591-024-02955-2

PMCID:: PMC11108772

Abstract Article PDF–6.2M

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