Sequenciamento paralelo em larga escala de genes alvo é uma ferramenta útil no diagnótico etiológico de crianças nascidas pequenas para idade gestacional

Autor: Freire, Bruna Lucheze

As doenças que comprometem o crescimento humano apresentam uma forte influência genética. O objetivo geral do projeto atual é desenvolver e aplicar a tecnologia de sequenciamento paralelo em larga escala para compreensão desses distúrbios de cr

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/5/5135/tde-15082018-104927/

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

Autor: Benyelles, Maname, Episkopou, Charikleia, O’Donohue, Marie-Françoise, Kermasson, Laëtitia, Frange, Pierre, Poulain, Florian, Burcu Belen, Fatma, Polat, Meltem, Bole-Feysot, Christine, Langa-Vives, Francina, Gleizes, Pierre-Emmanuel, de Villartay, Jean-Pierre, Callebaut, Isabelle, Decottignies, Anabelle, Revy, Patrick

Publikováno v: EMBO Molecular Medicine, Vol. June 6, no.June 6, p. e10201 (2019)

PARN, poly(A)-specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal–Hreidarsson (HH) syndrome, a rare telomere bio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f04c86ff4d4d7c750ff26070179577a

Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia

Autor: Daniel Surbek, Christiane Albrecht, Lu Hostettler, Xiao Huang, Marc Baumann, Edgar Ontsouka, Pascale Anderle

Publikováno v: BMC genomics, vol. 19, no. 1, pp. 173
BMC Genomics
BMC Genomics, Vol 19, Iss 1, Pp 1-17 (2018)
Huang, Xiao; Anderle, Pascale; Hostettler, Lu; Baumann, Marc; Surbek, Daniel; Ontsouka, Edgar; Albrecht, Christiane (2018). Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia. BMC Genomics, 19(1), p. 173. BioMed Central 10.1186/s12864-018-4518-z

Background Gestational disorders such as intrauterine growth restriction (IUGR) and pre-eclampsia (PE) are main causes of poor perinatal outcomes worldwide. Both diseases are related with impaired materno-fetal nutrient transfer, but the crucial tran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e71a183e3094c965c1c220ec2a64639
https://doi.org/10.1186/s12864-018-4518-z

Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation

Autor: Kawashima, Y., Kanzaki, S., Yang, F., Kinoshita, T., Hanaki, K., Nagaishi, J., Ohtsuka, Y., Hisatome, I., Ninomoya, H., Nanba, E., Fukushima, Toshiaki, Takahashi, S.

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 90:4679-4687

Context: Mouse knockout models have clearly demonstrated the critical importance of IGF-I and IGF receptor type 1 (IGF-IR) for embryonic growth as well as postnatal growth.Objective: We hypothesized that mutations of IGF-IR gene might predispose to s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaad83131d4f67050f9e839c8acc9be7
https://doi.org/10.1210/jc.2004-1947

A case of partial mole and atypical type I triploidy associated with severe HELLP syndrome at 18 weeks' gestation

Autor: Stefos, T, Plachouras, N, Mari, G, Cosmi, Erich, Lolis, D.

Partial mole is a rare complication of pregnancy and 90% of cases are associated with triploidy. HELLP syndrome is also a rare and life-threatening condition that occurs after 20 weeks' gestation. We report a case presenting with a combination of sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6d194f4e1a38fee09f7fab5c54c55f64
http://olympias.lib.uoi.gr/jspui/handle/123456789/24390