Literature DB >> 27380911

New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications.

D P Bezerra1,2, J R M Oliveira3,4,5.   

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Year:  2016        PMID： 27380911     DOI： 10.1007/s12031-016-0778-8

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


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  10 in total

Review 1.  Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

Authors:  Vera Tadic; Ana Westenberger; Aloysius Domingo; Daniel Alvarez-Fischer; Christine Klein; Meike Kasten
Journal:  JAMA Neurol       Date:  2015-04       Impact factor: 18.302

2.  First report of a de novo mutation at SLC20A2 in a patient with brain calcification.

Authors:  J B Ferreira; L Pimentel; M P Keasey; R R Lemos; L M Santos; M F Oliveira; S Santos; N Jensen; K Teixeira; L Pedersen; C R Rocha; M R Dias da Silva; J R M Oliveira
Journal:  J Mol Neurosci       Date:  2014-06-27       Impact factor: 3.444

3.  The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping.

Authors:  Steve D M Brown; Mark W Moore
Journal:  Mamm Genome       Date:  2012-09-01       Impact factor: 2.957

4.  Slc20a2 deficiency results in fetal growth restriction and placental calcification associated with thickened basement membranes and novel CD13 and lamininα1 expressing cells.

Authors:  Mary C Wallingford; Hilary S Gammill; Cecilia M Giachelli
Journal:  Reprod Biol       Date:  2016-01-11       Impact factor: 2.089

5.  SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.

Authors:  Mary Catherine Wallingford; Jia Jun Chia; Elizabeth M Leaf; Suhaib Borgeia; Nicholas W Chavkin; Chenphop Sawangmake; Ken Marro; Timothy C Cox; Mei Y Speer; Cecilia M Giachelli
Journal:  Brain Pathol       Date:  2016-05-06       Impact factor: 7.611

6.  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

7.  White matter involvement in a family with a novel PDGFB mutation.

Authors:  Roberta Biancheri; Mariasavina Severino; Angela Robbiano; Michele Iacomino; Massimo Del Sette; Carlo Minetti; Mariarosaria Cervasio; Marialaura Del Basso De Caro; Pasquale Striano; Federico Zara
Journal:  Neurol Genet       Date:  2016-05-05

8.  Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.

Authors:  Nina Jensen; Jacob Kwasi Autzen; Lene Pedersen
Journal:  Neurogenetics       Date:  2015-12-12       Impact factor: 2.660

9.  Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate.

Authors:  J R M Oliveira; M F Oliveira
Journal:  Sci Rep       Date:  2016-03-15       Impact factor: 4.379

10.  Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Authors:  Michael Vanlandewijck; Thibaud Lebouvier; Maarja Andaloussi Mäe; Khayrun Nahar; Simone Hornemann; David Kenkel; Sara I Cunha; Johan Lennartsson; Andreas Boss; Carl-Henrik Heldin; Annika Keller; Christer Betsholtz
Journal:  PLoS One       Date:  2015-11-23       Impact factor: 3.240
  10 in total
  1 in total

1.  A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Authors:  Simon Lamquet; Eliana M Ramos; Andrea Legati; Giovanni Coppola; Dimitri Hemelsoet; Olivier M Vanakker
Journal:  Ann Clin Transl Neurol       Date:  2019-02-01       Impact factor: 4.511
  1 in total

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