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Literature DB >> 10773674

Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization.

O Cremona¹, M Nimmakayalu, C Haffner, P Bray-Ward, D C Ward, P De Camilli.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2000 PMID： 10773674 DOI： 10.1159/000015493

Source DB: PubMed Journal: Cytogenet Cell Genet ISSN： 0301-0171

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7 in total

1. Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.

Authors: Sarah B Martin; Amy L S Dowling; Joann Lianekhammy; Ira T Lott; Eric Doran; M Paul Murphy; Tina L Beckett; Frederick A Schmitt; Elizabeth Head
Journal: J Alzheimers Dis Date: 2014 Impact factor: 4.472

2. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.

Authors: Jack-Christophe Cossec; Jérémie Lavaur; Diego E Berman; Isabelle Rivals; Alexander Hoischen; Samantha Stora; Clémentine Ripoll; Clotilde Mircher; Yann Grattau; Jean-Christophe Olivomarin; Fabrice de Chaumont; Magalie Lecourtois; Stylianos E Antonarakis; Joris A Veltman; Jean M Delabar; Charles Duyckaerts; Gilbert Di Paolo; Marie-Claude Potier
Journal: Hum Mol Genet Date: 2012-04-17 Impact factor: 6.150

3. Identification of a novel liver-specific expressed gene, TCP10L, encoding a human leucine zipper protein with transcription inhibition activity.

Authors: Zheng Chen; Long Yu; Hai Wu; Jianqiang Yu; Lisha Zhang; Daojun Jiang; Lijie Ma; Dan Li; Shouyuan Zhao
Journal: J Hum Genet Date: 2003-10-29 Impact factor: 3.172

Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization.

1. Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.

2. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.

3. Identification of a novel liver-specific expressed gene, TCP10L, encoding a human leucine zipper protein with transcription inhibition activity.

4. SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

5. Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Review 6. Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.

7. Genome-wide gene expression analysis in the placenta from fetus with trisomy 21.