V
Victor L. Ruiz-Perez
Researcher at Spanish National Research Council
Publications - 67
Citations - 4952
Victor L. Ruiz-Perez is an academic researcher from Spanish National Research Council. The author has contributed to research in topics: Ellis–van Creveld syndrome & Osteogenesis imperfecta. The author has an hindex of 28, co-authored 60 publications receiving 4444 citations. Previous affiliations of Victor L. Ruiz-Perez include Hospital Universitario La Paz & University of Murcia.
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Journal ArticleDOI
A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
TL;DR: This analysis shows that UV-induced ATR activation can occur in non-replicating cells following processing by nucleotide excision repair, and identifies a synonymous mutation in affected individuals that alters ATR splicing.
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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Anavaj Sakuntabhai,Victor L. Ruiz-Perez,S. Carter,N. Jacobsen,Susan Burge,Sarah Monk,Martin D. Smith,Colin S. Munro,Michael Conlon O'Donovan,Nicholas John Craddock,Raju Kucherlapati,Jonathan L. Rees,Michael John Owen,G M Lathrop,Anthony P. Monaco,Tom Strachan,Alain Hovnanian +16 more
TL;DR: It is demonstrated that mutations in ATP2A2 cause Darier disease and disclose a role for this pump in a Ca2+-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.
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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Victor L. Ruiz-Perez,Susan E. Ide,Susan E. Ide,Tim M. Strom,Bettina Lorenz,David I. Wilson,Kathryn Woods,Lynn Mertens King,Clair A. Francomano,Peter Freisinger,Stephanie Spranger,Bruno Marino,Bruno Dallapiccola,Michael Wright,Thomas Meitinger,Mihael H. Polymeropoulos,Judith A. Goodship +16 more
TL;DR: It is suggested that EvC and Weyers acrodental dysostosis are allelic conditions, and a new gene, encoding a 992–amino-acid protein, that is mutated in individuals with EvC is identified.
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A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
Alison Ross,Victor L. Ruiz-Perez,YM Wang,DM Hagan,Stephen W. Scherer,Sally Ann Lynch,Susan Lindsay,Emily Custard,Elena Belloni,David I. Wilson,R Wadey,FR Goodman,Karen Helene Ørstavik,Tom Monclair,Steve Robson,William Reardon,John Burn,Peter J. Scambler,Tom Strachan +18 more
TL;DR: Data is presented refining the initial subchromosomal localization in several additional hereditary sacral agenesis (HSA) families and identifying patient-specific mutations in a homeobox gene, HLXB9, which was previously reported to map to 1q41-q42.1 and to be expressed in lymphoid and pancreatic tissues.
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Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
Pablo Lapunzina,Mona Aglan,Samia A. Temtamy,José A. Caparrós-Martín,María Valencia,Rocío Letón,Victor Martinez-Glez,Rasha Elhossini,Khalda Amr,Nuria Vilaboa,Victor L. Ruiz-Perez +10 more
TL;DR: A homozygous single base pair deletion in SP7/Osterix (OSX) in an Egyptian child with recessive osteogenesis imperfecta is identified, adding another locus to the spectrum of genes associated with osteogenesisperfecta and reveals that SP 7/OSX also plays a key role in human bone development.