Literature DB >> 32572200

Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy.

Stylianos E Antonarakis1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 32572200      PMCID： PMC7576131          DOI： 10.1038/s41431-020-0671-3

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  2 in total

1.  Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Authors:  Markus N Preising; Boris Görg; Christoph Friedburg; Natalia Qvartskhava; Birgit S Budde; Michele Bonus; Mohammad R Toliat; Christopher Pfleger; Janine Altmüller; Diran Herebian; Mila Beyer; Helge J Zöllner; Hans-Jörg Wittsack; Jörg Schaper; Dirk Klee; Ulrich Zechner; Peter Nürnberg; Jörg Schipper; Alfons Schnitzler; Holger Gohlke; Birgit Lorenz; Dieter Häussinger; Hanno J Bolz
Journal:  FASEB J       Date:  2019-07-25       Impact factor: 5.191

2.  Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Authors:  Hanan Hamamy; Stylianos E Antonarakis; Luigi Luca Cavalli-Sforza; Samia Temtamy; Giovanni Romeo; Leo P Ten Kate; Robin L Bennett; Alison Shaw; Andre Megarbane; Cornelia van Duijn; Heli Bathija; Siv Fokstuen; Eric Engel; Joel Zlotogora; Emmanouil Dermitzakis; Armand Bottani; Sophie Dahoun; Michael A Morris; Steve Arsenault; Mona S Aglan; Mubasshir Ajaz; Ayad Alkalamchi; Dhekra Alnaqeb; Mohamed K Alwasiyah; Nawfal Anwer; Rawan Awwad; Melissa Bonnefin; Peter Corry; Lorraine Gwanmesia; Gulshan A Karbani; Maryam Mostafavi; Tommaso Pippucci; Emmanuelle Ranza-Boscardin; Bruno Reversade; Saghira M Sharif; Marieke E Teeuw; Alan H Bittles
Journal:  Genet Med       Date:  2011-09       Impact factor: 8.822
  2 in total
  1 in total

1.  Systemic taurine treatment affords functional and morphological neuroprotection of photoreceptors and restores retinal pigment epithelium function in RCS rats.

Authors:  Ana Martínez-Vacas; Johnny Di Pierdomenico; Alejandro Gallego-Ortega; Francisco J Valiente-Soriano; Manuel Vidal-Sanz; Serge Picaud; María Paz Villegas-Pérez; Diego García-Ayuso
Journal:  Redox Biol       Date:  2022-10-14       Impact factor: 10.787
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.