Literature DB >> 29192239

A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Rayssa Borges-Medeiros1, João Ricardo Mendes de Oliveira2.   

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Year:  2017        PMID： 29192239     DOI： 10.1038/s10038-017-0390-y

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  10 in total

1.  Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Authors:  Mary C O'Driscoll; Sarah B Daly; Jill E Urquhart; Graeme C M Black; Daniela T Pilz; Knut Brockmann; Meriel McEntagart; Ghada Abdel-Salam; Maha Zaki; Nicole I Wolf; Roger L Ladda; Susan Sell; Stefano D'Arrigo; Waney Squier; William B Dobyns; John H Livingston; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2010-08-19       Impact factor: 11.025

2.  Complex phenotype of mice lacking occludin, a component of tight junction strands.

Authors:  M Saitou; M Furuse; H Sasaki; J D Schulzke; M Fromm; H Takano; T Noda; S Tsukita
Journal:  Mol Biol Cell       Date:  2000-12       Impact factor: 4.138

Review 3.  Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

Authors:  Shagun Aggarwal; Ashish Bahal; Ashwin Dalal
Journal:  Eur J Med Genet       Date:  2015-12-12       Impact factor: 2.708

4.  Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Authors:  Mohamed S Abdel-Hamid; Ghada M H Abdel-Salam; Mahmoud Y Issa; Bayoumi A Emam; Maha S Zaki
Journal:  J Hum Genet       Date:  2017-02-09       Impact factor: 3.172

5.  Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Authors:  Annika Keller; Ana Westenberger; Maria J Sobrido; Maria García-Murias; Aloysius Domingo; Renee L Sears; Roberta R Lemos; Andres Ordoñez-Ugalde; Gael Nicolas; José E Gomes da Cunha; Elisabeth J Rushing; Michael Hugelshofer; Moritz C Wurnig; Andres Kaech; Regina Reimann; Katja Lohmann; Valerija Dobričić; Angel Carracedo; Igor Petrović; Janis M Miyasaki; Irina Abakumova; Maarja Andaloussi Mäe; Elisabeth Raschperger; Mayana Zatz; Katja Zschiedrich; Jörg Klepper; Elizabeth Spiteri; Jose M Prieto; Inmaculada Navas; Michael Preuss; Carmen Dering; Milena Janković; Martin Paucar; Per Svenningsson; Kioomars Saliminejad; Hamid R K Khorshid; Ivana Novaković; Adriano Aguzzi; Andreas Boss; Isabelle Le Ber; Gilles Defer; Didier Hannequin; Vladimir S Kostić; Dominique Campion; Daniel H Geschwind; Giovanni Coppola; Christer Betsholtz; Christine Klein; Joao R M Oliveira
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

6.  Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Authors:  Andrea Legati; Donatella Giovannini; Gaël Nicolas; Uriel López-Sánchez; Beatriz Quintáns; João R M Oliveira; Renee L Sears; Eliana Marisa Ramos; Elizabeth Spiteri; María-Jesús Sobrido; Ángel Carracedo; Cristina Castro-Fernández; Stéphanie Cubizolle; Brent L Fogel; Cyril Goizet; Joanna C Jen; Suppachok Kirdlarp; Anthony E Lang; Zosia Miedzybrodzka; Witoon Mitarnun; Martin Paucar; Henry Paulson; Jérémie Pariente; Anne-Claire Richard; Naomi S Salins; Sheila A Simpson; Pasquale Striano; Per Svenningsson; François Tison; Vivek K Unni; Olivier Vanakker; Marja W Wessels; Suppachok Wetchaphanphesat; Michele Yang; Francois Boller; Dominique Campion; Didier Hannequin; Marc Sitbon; Daniel H Geschwind; Jean-Luc Battini; Giovanni Coppola
Journal:  Nat Genet       Date:  2015-05-04       Impact factor: 38.330

7.  Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Authors:  Marije E C Meuwissen; Rachel Schot; Sofija Buta; Grétel Oudesluijs; Sigrid Tinschert; Scott D Speer; Zhi Li; Leontine van Unen; Daphne Heijsman; Tobias Goldmann; Maarten H Lequin; Johan M Kros; Wendy Stam; Mark Hermann; Rob Willemsen; Rutger W W Brouwer; Wilfred F J Van IJcken; Marta Martin-Fernandez; Irenaeus de Coo; Jeroen Dudink; Femke A T de Vries; Aida Bertoli Avella; Marco Prinz; Yanick J Crow; Frans W Verheijen; Sandra Pellegrini; Dusan Bogunovic; Grazia M S Mancini
Journal:  J Exp Med       Date:  2016-06-20       Impact factor: 14.307

8.  Brain calcifications and PCDH12 variants.

Authors:  Gaël Nicolas; Monica Sanchez-Contreras; Eliana Marisa Ramos; Roberta R Lemos; Joana Ferreira; Denis Moura; Maria J Sobrido; Anne-Claire Richard; Alma Rosa Lopez; Andrea Legati; Jean-François Deleuze; Anne Boland; Olivier Quenez; Pierre Krystkowiak; Pascal Favrole; Daniel H Geschwind; Adi Aran; Reeval Segel; Ephrat Levy-Lahad; Dennis W Dickson; Giovanni Coppola; Rosa Rademakers; João R M de Oliveira
Journal:  Neurol Genet       Date:  2017-07-26

9.  Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

Authors:  Nina Jensen; Henrik Daa Schrøder; Eva Kildall Hejbøl; Ernst-Martin Füchtbauer; João Ricardo Mendes de Oliveira; Lene Pedersen
Journal:  J Mol Neurosci       Date:  2013-08-10       Impact factor: 3.444

10.  Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Authors:  Xianqin Zhang; Dusan Bogunovic; Béatrice Payelle-Brogard; Véronique Francois-Newton; Scott D Speer; Chao Yuan; Stefano Volpi; Zhi Li; Ozden Sanal; Davood Mansouri; Ilhan Tezcan; Gillian I Rice; Chunyuan Chen; Nahal Mansouri; Seyed Alireza Mahdaviani; Yuval Itan; Bertrand Boisson; Satoshi Okada; Lu Zeng; Xing Wang; Hui Jiang; Wenqiang Liu; Tiantian Han; Delin Liu; Tao Ma; Bo Wang; Mugen Liu; Jing-Yu Liu; Qing K Wang; Dilek Yalnizoglu; Lilliana Radoshevich; Gilles Uzé; Philippe Gros; Flore Rozenberg; Shen-Ying Zhang; Emmanuelle Jouanguy; Jacinta Bustamante; Adolfo García-Sastre; Laurent Abel; Pierre Lebon; Luigi D Notarangelo; Yanick J Crow; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Sandra Pellegrini
Journal:  Nature       Date:  2014-10-12       Impact factor: 49.962
  10 in total

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