Yunjia Chen

Yunjia Chen

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Yunjia Chen

Yunjia Chen

Publications by authors named "Yunjia Chen"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Effective Attenuation of Adenosine A1R Signaling by Neurabin Requires Oligomerization of Neurabin.

Mol Pharmacol 2017 12 27;92(6):630-639. Epub 2017 Sep 27.

Departments of Cell, Developmental, and Integrative Biology (Y.C., H.W., R.X.W., Q.W.) and Genetics (K.J.), University of Alabama, Birmingham, Alabama; Department of Pharmacology, University of California, San Diego, California (C.B., J.Z.); and Department of Neuroscience, Friedman Brain Institute, Mount Sinai School of Medicine, New York, New York (D.T., V.Z.)

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http://dx.doi.org/10.1124/mol.117.109462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676298PMC
December 2017

The amyloid precursor protein modulates α-adrenergic receptor endocytosis and signaling through disrupting arrestin 3 recruitment.

FASEB J 2017 10 23;31(10):4434-4446. Epub 2017 Jun 23.

Department of Cell, Developmental, and Integrative Biology, University of Alabama at Birmingham, Birmingham, Alabama, USA;

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http://dx.doi.org/10.1096/fj.201700346RDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602903PMC
October 2017

Spinophilin Is Indispensable for the α2B Adrenergic Receptor-Elicited Hypertensive Response.

PLoS One 2015 5;10(8):e0135030. Epub 2015 Aug 5.

Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, 1918 University Boulevard, Birmingham, AL 35294, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135030PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526467PMC
May 2016

[Effect of soft tissue thickness of upper lip on lip retraction in orthodontical-treated Class II, Division 1 females].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2016 Apr;41(4):394-8

Department of Orthodontics Stomatological Hospital of Chongqing Medical University; Chongqing Key Laboratory for Oral Diseases and Biomedical Sciences; Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, Chongqing 401147, China.

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http://dx.doi.org/10.11817/j.issn.1672-7347.2016.04.009DOI Listing
April 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Noradrenergic dysfunction in Alzheimer's disease.

Front Neurosci 2015 17;9:220. Epub 2015 Jun 17.

Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham Birmingham, AL, USA.

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http://dx.doi.org/10.3389/fnins.2015.00220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469831PMC
July 2015

α(2A) adrenergic receptor promotes amyloidogenesis through disrupting APP-SorLA interaction.

Proc Natl Acad Sci U S A 2014 Dec 17;111(48):17296-301. Epub 2014 Nov 17.

Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL 35294;

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http://dx.doi.org/10.1073/pnas.1409513111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260556PMC
December 2014

CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice.

Hum Mol Genet 2014 Apr 29;23(8):2145-56. Epub 2013 Nov 29.

Department of Genetics and Department of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA

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http://dx.doi.org/10.1093/hmg/ddt610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959819PMC
April 2014

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Ann Neurol 2014 Jan 2;75(1):77-87. Epub 2014 Jan 2.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, and Vita-Salute San Raffaele University, Milan, Italy.

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http://doi.wiley.com/10.1002/ana.24028
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http://dx.doi.org/10.1002/ana.24028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932827PMC
January 2014

Neurabin scaffolding of adenosine receptor and RGS4 regulates anti-seizure effect of endogenous adenosine.

J Neurosci 2012 Feb;32(8):2683-95

Department of Physiology and Biophysics, Genetics, University of Alabama, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.4125-11.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3310383PMC
February 2012

Genetic variations of α(2)-adrenergic receptors illuminate the diversity of receptor functions.

Curr Top Membr 2011 ;67:161-90

Department of Physiology and Biophysics, University of Alabama at Birmingham, AL, USA.

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http://dx.doi.org/10.1016/B978-0-12-384921-2.00008-2DOI Listing
January 2012

The antidepressant desipramine is an arrestin-biased ligand at the α(2A)-adrenergic receptor driving receptor down-regulation in vitro and in vivo.

J Biol Chem 2011 Oct 22;286(41):36063-75. Epub 2011 Aug 22.

Department of Physiology and Biophysics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1074/jbc.M111.261578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195605PMC
October 2011

Study of GPCR-protein interactions using gel overlay assays and glutathione-S-transferase-fusion protein pull-downs.

Methods Mol Biol 2011 ;746:347-55

Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.

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http://dx.doi.org/10.1007/978-1-61779-126-0_19DOI Listing
September 2011

Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor.

Biochem Biophys Res Commun 2011 Jun 8;409(2):338-43. Epub 2011 May 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1016/j.bbrc.2011.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119198PMC
June 2011

A high throughput platform for eukaryotic genes.

Methods Mol Biol 2008 ;426:209-20

Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1007/978-1-60327-058-8_13DOI Listing
August 2008

Protein kinase A phosphorylation of spinophilin modulates its interaction with the alpha 2A-adrenergic receptor (AR) and alters temporal properties of alpha 2AAR internalization.

J Biol Chem 2008 May 26;283(21):14516-23. Epub 2008 Mar 26.

Department of Physiology and Biophysics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1074/jbc.M710340200DOI Listing
May 2008

Domain selection combined with improved cloning strategy for high throughput expression of higher eukaryotic proteins.

BMC Biotechnol 2007 Jul 30;7:45. Epub 2007 Jul 30.

Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1186/1472-6750-7-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950093PMC
July 2007

Systematic high-yield production of human secreted proteins in Escherichia coli.

Biochem Biophys Res Commun 2005 Jul;332(2):593-601

National Laboratory of Protein Engineering and Plant Genetic Engineering, College of Life Sciences, Peking University, Beijing 100871, China.

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http://dx.doi.org/10.1016/j.bbrc.2005.04.163DOI Listing
July 2005

SPD--a web-based secreted protein database.

Nucleic Acids Res 2005 Jan;33(Database issue):D169-73

Centre of Bioinformatics, College of Life Sciences, National Laboratory of Protein Engineering and Plant Genetic Engineering, Peking University, Beijing 100871, China.

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http://dx.doi.org/10.1093/nar/gki093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC540047PMC
January 2005

Secreted protein prediction system combining CJ-SPHMM, TMHMM, and PSORT.

Mamm Genome 2003 Dec;14(12):859-65

College of Life Sciences, National Laboratory of Protein Engineering and Plant Genetic Engineering, and Centre of Bioinformatics, Peking University, Beijing 100871, China.

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http://dx.doi.org/10.1007/s00335-003-2296-6DOI Listing
December 2003

PCAS--a precomputed proteome annotation database resource.

BMC Genomics 2003 Nov 1;4(1):42. Epub 2003 Nov 1.

College of Life Sciences, National Laboratory of Genetic Engineering and Protein Engineering, Center of Bioinformatics, Peking University, Beijing 100871, China.

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http://dx.doi.org/10.1186/1471-2164-4-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC293463PMC
November 2003