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Novel Alu retrotransposon insertion leading to Alström syndrome

Novel Alu retrotransposon insertion leading to Alström syndrome

http://www.wikidata.org/entity/Q35691014

about

Roles for retrotransposon insertions in human disease Friend or Foe: Epigenetic Regulation of Retrotransposons in Mammalian Oogenesis and Early Development Structural Variation of Alu Element and Human Disease Alu mobile elements: from junk DNA to genomic gems Active human retrotransposons: variation and disease The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey Alström Syndrome: Mutation Spectrum of ALMS1.Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.Clinical utility gene card for: Alström Syndrome - update 2013.A systematic review of genetic syndromes with obesity.The Alu-insertion progesterone receptor gene polymorphism is not associated with breast cancer: a meta-analysis.Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.

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P2860

Novel Alu retrotransposon insertion leading to Alström syndrome

http://www.wikidata.org/entity/Q35691014

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

@zh

2011年论文

@zh-cn

name

Novel Alu retrotransposon insertion leading to Alström syndrome

@ast

Novel Alu retrotransposon insertion leading to Alström syndrome

@en

type

label

Novel Alu retrotransposon insertion leading to Alström syndrome

@ast

Novel Alu retrotransposon insertion leading to Alström syndrome

@en

prefLabel

Novel Alu retrotransposon insertion leading to Alström syndrome

@ast

Novel Alu retrotransposon insertion leading to Alström syndrome

@en

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P1476

Novel Alu retrotransposon insertion leading to Alström syndrome

@en

P2093

Alexei V Evsikov

http://www.w3.org/2001/XMLSchema#string

Ayşegül Güzel

http://www.w3.org/2001/XMLSchema#string

Gayle B Collin

http://www.w3.org/2001/XMLSchema#string

Jan D Marshall

http://www.w3.org/2001/XMLSchema#string

Jürgen K Naggert

http://www.w3.org/2001/XMLSchema#string

Mustafa Taşkesen

http://www.w3.org/2001/XMLSchema#string

P2860

Initial sequencing and analysis of the human genome

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

Alstrom syndrome (OMIM 203800): a case report and literature review

Distinctive sequence organization and functional programming of an Alu repeat promoter

Alms1-disrupted mice recapitulate human Alström syndrome.

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Repbase Update, a database of eukaryotic repetitive elements

Cytosine methylation and the ecology of intragenomic parasites

Alu repeats and human genomic diversity

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

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Riza Koksal Ozgul

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retrotransposon

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