R
Richard A. Lewis
Researcher at Baylor College of Medicine
Publications - 319
Citations - 26953
Richard A. Lewis is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Allele & Gene. The author has an hindex of 83, co-authored 296 publications receiving 24639 citations. Previous affiliations of Richard A. Lewis include University of Texas Health Science Center at San Antonio & Houston Methodist Hospital.
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Journal ArticleDOI
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Rando Allikmets,Nanda A. Singh,Hui Sun,Noah F. Shroyer,Amy Hutchinson,Abirami Chidambaram,Bernard Gerrard,Lisa Baird,Dora Stauffer,Andy Peiffer,Amir Rattner,Philip M. Smallwood,Yixin Li,Kent L. Anderson,Richard A. Lewis,Jeremy Nathans,Mark Leppert,Michael Dean,James R. Lupski +18 more
TL;DR: Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM.
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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections
Dongchuan Guo,Hariyadarshi Pannu,Van Tran-Fadulu,Christina L. Papke,Robert Yu,Nili Avidan,Scott Bourgeois,Anthony L. Estrera,Hazim J. Safi,Elizabeth Sparks,David J. Amor,Lesley C. Adès,Vivienne McConnell,Colin E. Willoughby,Dianne N. Abuelo,Marcia C. Willing,Richard A. Lewis,Dong H. Kim,Steve Scherer,Poyee P. Tung,Chul Ahn,L. Maximilian Buja,Chander Raman,Sanjay Shete,Dianna M. Milewicz +24 more
TL;DR: It is shown that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD), and the importance of SMC contraction in maintaining the structural integrity of the ascending aorta is indicated.
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Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
Stephen J. Ansley,Jose L. Badano,Oliver E. Blacque,Josephine Hill,Bethan E. Hoskins,Bethan E. Hoskins,Carmen C. Leitch,Jun Chul Kim,Alison Ross,Erica R. Eichers,Tanya M. Teslovich,Allan K. Mah,Robert C. Johnsen,John C. Cavender,Richard A. Lewis,Michel R. Leroux,Philip L. Beales,Nicholas Katsanis +17 more
TL;DR: It is shown that BBS is probably caused by a defect at the basal body of ciliated cells, and a new BBS gene is cloned, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility.
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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
Journal ArticleDOI
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Nicholas Katsanis,Stephen J. Ansley,Jose L. Badano,Erica R. Eichers,Richard A. Lewis,Bethan E. Hoskins,Peter J. Scambler,William S. Davidson,Philip L. Beales,James R. Lupski +9 more
TL;DR: In this paper, a cohort of 163 BBS families were screened for mutations in BBS2 and BBS6 and reported the presence of three mutant alleles in affected individuals in four pedigrees.