Literature DB >> 29195747

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders.

Caroline Demily1, Laurence Hubert2, Nicolas Franck3, Alice Poisson4, Arnold Munnich5, Claude Besmond2.   

Abstract

Entities:  

Keywords:  Genetics; Mendelian transmission; Neurodevelopmental genes; Next generation sequencing; Schizophrenia; Schizotypal personality disorder; Whole exome sequencing

Mesh：

Substances：

Year:  2017        PMID： 29195747     DOI： 10.1016/j.schres.2017.11.028

Source DB:  PubMed          Journal:  Schizophr Res        ISSN： 0920-9964            Impact factor:   4.939


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  3 in total

1.  Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Authors:  Justyna A Karolak; Qian Liu; Nina G Xie; Lucia R Wu; Gustavo Rocha; Susana Fernandes; Luk Ho-Ming; Ivan F Lo; David Mowat; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; David Witte; Ashley Parrott; Edwina Popek; Przemyslaw Szafranski; David Y Zhang; Pawel Stankiewicz
Journal:  J Mol Diagn       Date:  2020-02-07       Impact factor: 5.568

Review 2.  Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Authors:  Shreyas Bhat; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Pharmacol Ther       Date:  2020-12-10       Impact factor: 12.310

Review 3.  Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Authors:  Raquel Yahyaoui; Javier Pérez-Frías
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923
  3 in total

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