Val C Sheffield

Val C Sheffield

UNVERIFIED PROFILE

Are you Val C Sheffield?   Register this Author

Register author
Val C Sheffield

Val C Sheffield

Publications by authors named "Val C Sheffield"

Are you Val C Sheffield?   Register this Author

100Publications

1975Reads

50Profile Views

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of -Associated X-Linked Retinitis Pigmentosa.

Hum Gene Ther 2019 Aug;30(8):967-974

Department of Ophthalmology and Visual Sciences, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2018.244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703244PMC
August 2019

Absence of BBSome function leads to astrocyte reactivity in the brain.

Mol Brain 2019 May 9;12(1):48. Epub 2019 May 9.

Departments of Pediatrics and Ophthalmology, University of Iowa, Iowa City, IA, 52242, USA.

View Article

Download full-text PDF

Source
https://molecularbrain.biomedcentral.com/articles/10.1186/s1
Publisher Site
http://dx.doi.org/10.1186/s13041-019-0466-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509862PMC
May 2019

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Proc Natl Acad Sci U S A 2019 01 8;116(4):1353-1360. Epub 2019 Jan 8.

Department of Pediatrics, University of Iowa, Iowa City, IA 52242;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1817639116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347721PMC
January 2019

A 30-Mile-per-Hour Headwind.

Authors:
Val C Sheffield

JAMA 2018 Jul;320(1):33-34

Division of Medical Genetics, Department of Pediatrics, The University of Iowa Carver College of Medicine, Iowa City.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2018.8191DOI Listing
July 2018

Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension.

J Biol Chem 2018 06 9;293(25):9854-9868. Epub 2018 May 9.

From the Department of Pharmacology and Neuroscience and the North Texas Eye Research Institute, University of North Texas Health Science Center, Fort Worth, Texas 76107 and

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.RA118.002540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016452PMC
June 2018

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

PLoS One 2018 14;13(2):e0192755. Epub 2018 Feb 14.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, lowa, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192755PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812623PMC
April 2018

CRISPR-Cas9-based treatment of myocilin-associated glaucoma.

Proc Natl Acad Sci U S A 2017 10 2;114(42):11199-11204. Epub 2017 Oct 2.

Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1706193114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651749PMC
October 2017

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.

J Med Genet 2017 09 23;54(9):633-639. Epub 2017 May 23.

The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104514
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2017-104514DOI Listing
September 2017

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Ophthalmology 2017 09 27;124(9):1314-1331. Epub 2017 May 27.

Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; Stephen A. Wynn Institute for Vision Research, the University of Iowa, Iowa City, Iowa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565704PMC
September 2017

Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.

Bone 2017 Aug 8;101:179-190. Epub 2016 May 8.

Department of Molecular Pharmacology, Medical Research Institute, Tokyo Medical and Dental University, Japan; Department of Orthopedics, Tokyo Medical and Dental University, Japan; Yokohama City Minato Red Cross Hospital, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2016.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5519131PMC
August 2017

The molecular genetics of eye diseases.

Hum Mol Genet 2017 08;26(R1):R1

Departments of Pediatrics and Ophthalmology & Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276974PMC
August 2017

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.

Mol Ther 2017 04 22;25(4):904-916. Epub 2017 Feb 22.

Department of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL 32610, USA; Center for Smell and Taste, University of Florida College of Medicine, Gainesville, FL 32610, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymthe.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383630PMC
April 2017

Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma.

Invest Ophthalmol Vis Sci 2017 04;58(4):2054-2062

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States 2Center for the Prevention and Treatment of Visual Loss, Iowa City Veterans Affairs Medical Center, Iowa City, Iowa, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-20672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108236PMC
April 2017

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Hum Mutat 2016 08 9;37(8):727-31. Epub 2016 May 9.

Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066188PMC
August 2016

Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo.

Proc Natl Acad Sci U S A 2016 06 6;113(25):E3492-500. Epub 2016 Jun 6.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242; Center for the Prevention and Treatment of Visual Loss, Iowa City Veterans Affairs Medical Center, Iowa City, IA 52242;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1604153113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922164PMC
June 2016

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Hum Mol Genet 2016 06 22;25(11):2283-2294. Epub 2016 Mar 22.

Department of Pediatrics, Division of Medical Genetics, Wynn Institute for Vision Research, Carver College of Medicine.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081059PMC
June 2016

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Hum Mol Genet 2015 Dec 12;24(25):7227-40. Epub 2015 Oct 12.

Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/10/27/hmg.d
Web Search
http://hmg.oxfordjournals.org/content/early/2015/10/11/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664165PMC
December 2015

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

Proc Natl Acad Sci U S A 2015 Aug 27;112(32):E4400-9. Epub 2015 Jul 27.

Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1510111112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538681PMC
August 2015

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

PLoS Genet 2015 Aug 6;11(8):e1005388. Epub 2015 Aug 6.

Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel; National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Beer Sheva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1005388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527749PMC
August 2015

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.

PLoS Genet 2015 Jun 23;11(6):e1005311. Epub 2015 Jun 23.

Department of Pharmacology, University of Iowa College of Medicine, Iowa City, Iowa, United States of America; Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, Iowa, United States of America; FOE Diabetes Research Center, University of Iowa College of Medicine, Iowa City, Iowa, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1005311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478011PMC
June 2015

Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye.

Invest Ophthalmol Vis Sci 2015 May;56(5):3075-83

Department of Anatomy and Cell Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States 2Department of Physiology, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-15891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439132PMC
May 2015

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.

J Biomed Inform 2015 Apr 13;54:106-13. Epub 2015 Jan 13.

Department of Pediatrics, The University of Iowa, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbi.2015.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936396PMC
April 2015

Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: a mechanism for purinergic involvement in chronic strain.

Glia 2014 Sep 19;62(9):1486-501. Epub 2014 May 19.

Department of Anatomy and Cell Biology, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Anesthesiology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/glia.22695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133947PMC
September 2014

Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

Dev Biol 2014 Aug 2;392(2):245-55. Epub 2014 Jun 2.

Department of Biology, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2014.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114335PMC
August 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

PLoS Genet 2014 Feb 13;10(2):e1004083. Epub 2014 Feb 13.

Department of Pediatrics, University of Iowa Interdisciplinary program of genetics, Iowa City, Iowa, United States of America ; Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America ; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America.

View Article

Download full-text PDF

Source
https://dx.plos.org/10.1371/journal.pgen.1004083
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1004083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923683PMC
February 2014

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

PLoS One 2013 15;8(3):e59101. Epub 2013 Mar 15.

Department of Pediatrics, University of Iowa Interdisciplinary Program of Genetics, Iowa City, Iowa, USA.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0059101PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598656PMC
October 2013

Author reply: To PMID 22944025.

Ophthalmology 2013 Oct;120(10):e73

Ophthalmology and Visual Sciences Department, University of Iowa Carver College of Medicine, Iowa City, Iowa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2013.07.008DOI Listing
October 2013

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Vision Res 2012 Dec 24;75:77-87. Epub 2012 Aug 24.

University of Tennessee Health Science Center, Hamilton Eye Institute, Memphis, TN 38163, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.visres.2012.08.005DOI Listing
December 2012

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Joana Almeida Elena Bacchelli Gillian Baird Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Jillian Casey Judith Conroy Catarina Correia Christina Corsello Emily L Crawford Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne John Gilbert Christopher Gillberg Joseph T Glessner Andrew Green Jonathan Green Stephen J Guter Elizabeth A Heron Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Suma Jacob Graham P Kenny Cecilia Kim Alexander Kolevzon Vlad Kustanovich Clara M Lajonchere Janine A Lamb Miriam Law-Smith Marion Leboyer Ann Le Couteur Bennett L Leventhal Xiao-Qing Liu Frances Lombard Catherine Lord Linda Lotspeich Sabata C Lund Tiago R Magalhaes Carine Mantoulan Christopher J McDougle Nadine M Melhem Alison Merikangas Nancy J Minshew Ghazala K Mirza Jeff Munson Carolyn Noakes Gudrun Nygren Katerina Papanikolaou Alistair T Pagnamenta Barbara Parrini Tara Paton Andrew Pickles David J Posey Fritz Poustka Jiannis Ragoussis Regina Regan Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Sabine Schlitt Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Nuala Sykes Raffaella Tancredi Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar J A S Vorstman Simon Wallace Kirsty Wing Kerstin Wittemeyer Shawn Wood Danielle Zurawiecki Lonnie Zwaigenbaum Anthony J Bailey Agatino Battaglia Rita M Cantor Hilary Coon Michael L Cuccaro Geraldine Dawson Sean Ennis Christine M Freitag Daniel H Geschwind Jonathan L Haines Sabine M Klauck William M McMahon Elena Maestrini Judith Miller Anthony P Monaco Stanley F Nelson John I Nurnberger Guiomar Oliveira Jeremy R Parr Margaret A Pericak-Vance Joseph Piven Gerard D Schellenberg Stephen W Scherer Astrid M Vicente Thomas H Wassink Ellen M Wijsman Catalina Betancur Joseph D Buxbaum Edwin H Cook Louise Gallagher Michael Gill Joachim Hallmayer Andrew D Paterson James S Sutcliffe Peter Szatmari Veronica J Vieland Hakon Hakonarson Bernie Devlin

Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.

Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471395PMC
November 2012

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

Proc Natl Acad Sci U S A 2012 Nov 12;109(48):19691-6. Epub 2012 Nov 12.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1210916109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511769PMC
November 2012

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.

Psychiatr Genet 2012 Jun;22(3):137-40

Department of Molecular Physiology, University of Iowa, Interdisciplinary Genetics Program, 375 Newton Rd., 4181 MERF, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00041444-201206000-000
Publisher Site
http://dx.doi.org/10.1097/YPG.0b013e32834dc3f5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309069PMC
June 2012

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

J Biol Chem 2012 Jun 12;287(24):20625-35. Epub 2012 Apr 12.

Department of Pediatrics, Division of Medical Genetics and Howard Hughes Medical Institute, University of Iowa, Iowa City 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M112.341487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370246PMC
June 2012

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.

Hum Mol Genet 2012 May 6;21(9):1945-53. Epub 2012 Jan 6.

Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa, 4181 MERF, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/dds004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315203PMC
May 2012

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Invest Ophthalmol Vis Sci 2012 Jan 5;53(1):100-6. Epub 2012 Jan 5.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.11-8544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292352PMC
January 2012

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PLoS Genet 2011 Nov 3;7(11):e1002358. Epub 2011 Nov 3.

Department of Pediatrics, University of Iowa College of Medicine, Iowa City, Iowa, USA.

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pgen.1002358
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1002358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207910PMC
November 2011

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

J Clin Invest 2011 Sep 8;121(9):3542-53. Epub 2011 Aug 8.

Howard Hughes Medical Institute, Department of Pediatrics, College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI58183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163970PMC
September 2011

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Hum Mol Genet 2011 Jun 29;20(12):2482-94. Epub 2011 Mar 29.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddr123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098731PMC
June 2011

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Am J Hum Genet 2011 May 14;88(5):599-607. Epub 2011 Apr 14.

Department of Virology and Developmental Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2011.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146731PMC
May 2011

Genomics and the eye.

N Engl J Med 2011 May;364(20):1932-42

Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMra1012354
Publisher Site
http://dx.doi.org/10.1056/NEJMra1012354DOI Listing
May 2011

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.

Hum Mol Genet 2011 Apr 31;20(8):1625-32. Epub 2011 Jan 31.

Department of Biology, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddr039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063988PMC
April 2011

Inactivation of Bardet-Biedl syndrome genes causes kidney defects.

Am J Physiol Renal Physiol 2011 Feb 24;300(2):F574-80. Epub 2010 Nov 24.

Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajprenal.00150.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043995PMC
February 2011

The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.

Authors:
Val C Sheffield

Trans Am Clin Climatol Assoc 2010 ;121:172-81; discussion 181-2

Department of Pediatrics, Division of Medical Genetics, Howard Hughes Medical Institute, 4181 MERF, University of Iowa Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917141PMC
December 2010

Light aversion in mice depends on nonimage-forming irradiance detection.

Behav Neurosci 2010 Dec;124(6):821-7

Department of Ophthalmology and Visual Sciences and The Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1037/a0021568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313681PMC
December 2010

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

Hum Mol Genet 2010 Oct 20;19(19):3693-701. Epub 2010 Jul 20.

Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935854PMC
October 2010

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Nuala Sykes Alistair T Pagnamenta Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Nadine M Melhem Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
Publisher Site
http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

Genet Med 2010 Oct;12(10):623-7

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115203PMC
http://dx.doi.org/10.1097/GIM.0b013e3181f07572DOI Listing
October 2010

Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.

J Pediatr Orthop 2010 Sep;30(6):539-43

Departments of Orthopaedic Surgery and Rehabilitation, Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0b013e3181e7902cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928583PMC
September 2010

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Joana Almeida Elena Bacchelli Gary D Bader Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Cheryl Cytrynbaum Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Andrew Green Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Marion Pilorge Joseph Piven Chris P Ponting David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Caleb Webber Rosanna Weksberg Kirsty Wing Kerstin Wittemeyer Shawn Wood Jing Wu Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Bernie Devlin Sean Ennis Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Joachim Hallmayer Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

Proc Natl Acad Sci U S A 2010 Feb 22;107(5):2054-9. Epub 2009 Dec 22.

Department of Orthopaedics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0910875107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836675PMC
February 2010

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

Proc Natl Acad Sci U S A 2010 Jan 4;107(4):1488-93. Epub 2010 Jan 4.

Department of Pediatrics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://www.pnas.org/cgi/doi/10.1073/pnas.0910268107
Publisher Site
http://dx.doi.org/10.1073/pnas.0910268107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824390PMC
January 2010

Mice defective in Trpm6 show embryonic mortality and neural tube defects.

Hum Mol Genet 2009 Nov 18;18(22):4367-75. Epub 2009 Aug 18.

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766295PMC
November 2009

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

J Orthop Res 2009 Aug;27(8):1093-9

Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, 200 Hawkins Drive, 01023 JPP, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jor.20855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845817PMC
August 2009

Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.

Clin Orthop Relat Res 2009 May 22;467(5):1201-5. Epub 2009 Jan 22.

Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, 200 Hawkins Drive, 01023 JPP, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11999-008-0701-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664430PMC
May 2009

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

Hum Mol Genet 2009 Apr 15;18(7):1323-31. Epub 2009 Jan 15.

Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2655773PMC
April 2009

Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1145-51

Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752707PMC
October 2008

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Arch Ophthalmol 2008 Sep;126(9):1301-7

Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archopht.126.9.1301DOI Listing
September 2008

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

Hum Mol Genet 2008 Jul 1;17(13):1956-67. Epub 2008 Apr 1.

Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900902PMC
July 2008

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.

J Clin Invest 2008 Apr;118(4):1458-67

Department of Internal Medicine, Center on Functional Genomics of Hypertension, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI32357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2262028PMC
April 2008

Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.

Eur J Neurosci 2008 Apr;27(8):1973-9

Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1460-9568.2008.06168.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722748PMC
April 2008

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.

Proc Natl Acad Sci U S A 2008 Mar 25;105(9):3380-5. Epub 2008 Feb 25.

Departments of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://www.pnas.org/cgi/doi/10.1073/pnas.0712327105
Publisher Site
http://dx.doi.org/10.1073/pnas.0712327105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265193PMC
March 2008