Literature DB >> 19610118

Keppen-Lubinsky syndrome: Expanding the phenotype.

Lina Basel-Vanagaite1, Lisa Shaffer, David Chitayat.   

Abstract

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Year:  2009        PMID： 19610118     DOI： 10.1002/ajmg.a.32975

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome.

Authors:  Alexander M Kleschevnikov; Jessica Yu; Jeesun Kim; Larisa V Lysenko; Zheng Zeng; Y Eugene Yu; William C Mobley
Journal:  Neurobiol Dis       Date:  2017-03-22       Impact factor: 5.996

2.  Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Authors:  Andrea Masotti; Paolo Uva; Laura Davis-Keppen; Lina Basel-Vanagaite; Lior Cohen; Elisa Pisaneschi; Antonella Celluzzi; Paola Bencivenga; Mingyan Fang; Mingyu Tian; Xun Xu; Marco Cappa; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

Review 3.  Neuronal G protein-gated K+ channels.

Authors:  Haichang Luo; Ezequiel Marron Fernandez de Velasco; Kevin Wickman
Journal:  Am J Physiol Cell Physiol       Date:  2022-06-15       Impact factor: 5.282

4.  Kir2.1 is important for efficient BMP signaling in mammalian face development.

Authors:  Matthew T Belus; Madison A Rogers; Alaaeddin Elzubeir; Megan Josey; Steven Rose; Viktoria Andreeva; Pamela C Yelick; Emily A Bates
Journal:  Dev Biol       Date:  2018-03-20       Impact factor: 3.582

Review 5.  Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits.

Authors:  Alexander M Kleschevnikov
Journal:  Front Genet       Date:  2022-09-12       Impact factor: 4.772
  5 in total

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