C
Carlos Martín Restrepo
Researcher at Del Rosario University
Publications - 57
Citations - 751
Carlos Martín Restrepo is an academic researcher from Del Rosario University. The author has contributed to research in topics: Exome sequencing & Population. The author has an hindex of 13, co-authored 49 publications receiving 598 citations. Previous affiliations of Carlos Martín Restrepo include University of Melbourne & Mexican Social Security Institute.
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Journal ArticleDOI
Transcriptional regulator PRDM12 is essential for human pain perception
Ya Chun Chen,Michaela Auer-Grumbach,Shinya Matsukawa,Manuela Zitzelsberger,Andreas C. Themistocleous,Tim M. Strom,Chrysanthi Samara,Adrian W. Moore,Lily T. Y. Cho,Gareth T. Young,Caecilia Weiss,Maria Schabhüttl,Rolf Stucka,Annina B. Schmid,Yesim Parman,Luitgard Graul-Neumann,Wolfram Heinritz,Eberhard Passarge,Rosemarie Watson,Jens Michael Hertz,Ute Moog,Manuela Baumgartner,Enza Maria Valente,Diego Pereira,Carlos Martín Restrepo,Istvan Katona,Marina Dusl,Claudia Stendel,Thomas Wieland,Fay Stafford,Frank Reimann,Katja von Au,Christian Finke,Patrick Willems,Michael S. Nahorski,Samiha S. Shaikh,Ofélia P. Carvalho,Adeline K Nicholas,G. Karbani,Maeve A. McAleer,Maria Roberta Cilio,John McHugh,Sinéad M. Murphy,Alan D. Irvine,Uffe Birk Jensen,Reinhard Windhager,Joachim Weis,Carsten Bergmann,Bernd Rautenstrauss,Jonathan Baets,Peter De Jonghe,Mary M. Reilly,Regina Kropatsch,Ingo Kurth,Roman Chrast,Tatsuo Michiue,David L.H. Bennett,C. Geoffrey Woods,Jan Senderek +58 more
TL;DR: It is determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos and abrogate the histone-modifying potential associated with wild-type PrDM12.
Journal ArticleDOI
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Christine P. Diggle,David A. Parry,Clare V. Logan,Paul Laissue,Carolina Rivera,Carlos Martín Restrepo,Dora Janeth Fonseca,Joanne E. Morgan,Yannick Allanore,Michaela Fontenay,Julien Wipff,Mathilde Varret,Laure Gibault,Nadezhda Dalantaeva,Márta Korbonits,Bowen Zhou,Gang Yuan,Ghita Harifi,Kivanc Cefle,Sukru Palanduz,Hadim Akoglu,Petra J.G. Zwijnenburg,Klaske D. Lichtenbelt,Bérengère Aubry-Rozier,Andrea Superti-Furga,Bruno Dallapiccola,Maria Accadia,Francesco Brancati,Francesco Brancati,Francesco Brancati,Eamonn Sheridan,Graham R. Taylor,Ian M. Carr,Colin A. Johnson,Alexander F. Markham,David T. Bonthron +35 more
TL;DR: Findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO and suggest that the induction or maintenance of hematopoietic stem cells by prostaglandsin may depend upon transporter activity.
Journal ArticleDOI
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
Africa Fernandez-L,Francisco Sanz-Rodríguez,Roberto Zarrabeitia,Alfonso Perez-Molino,Carmelo Morales,Carlos Martín Restrepo,Jose Ramón Ramirez,Eliecer Coto,Gennaro M. Lenato,Carmelo Bernabeu,Luisa María Botella +10 more
TL;DR: Endoglin expression in HHT1 or HHT2 activated monocytes and blood outgrowth endothelial cells from older patients was well below the theoretical 50% level expected from the HHT 1 haploinsufficiency model, suggesting that the pathogenic endoglin haplo insufficiency leading to the H HT phenotype is age‐dependent.
Journal ArticleDOI
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.
Oscar Ortega-Recalde,Jéssica Inés Vergara,Dora Janeth Fonseca,Xiomara Ríos,Hernando Mosquera,Olga María Bermúdez,Claudia Liliana Medina,Clara Inés Vargas,Argemiro Enrique Pallares,Carlos Martín Restrepo,Paul Laissue +10 more
TL;DR: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer.
"Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology"
Oscar-Javier Ortega-Recalde,Jéssica Inés Vergara,Dora Janeth Fonseca-Mendoza,Xiomara Ríos,Hernando Mosquera,Olga María Bermúdez,Claudia Liliana Medina,Clara Inés Vargas,Argemiro Enrique Pallares,Carlos Martín Restrepo,Paul Laissue +10 more
TL;DR: The results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology and identify a novel homozygous nonsense mutation in POLH which causes the disease.