4.5 Article

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Geriatrics & Gerontology

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis

Ryoichi Nakamura et al.

Summary: Two recent genetic studies found that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). This study in Japanese patients with sporadic ALS identified a novel loss-of-function variant in KIF5A, highlighting its rare occurrence as a cause of ALS.

NEUROBIOLOGY OF AGING (2021)

Article Clinical Neurology

Mutations ofDNAJC7are rare in Chinese amyotrophic lateral sclerosis patients

Xiaohan Sun et al.

Summary: The study found that pathogenic mutations of DNAJC7 are rare in Chinese ALS patients, with no pathogenic mutations of DNAJC7 being identified in the cohort studied.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2021)

Article Geriatrics & Gerontology

Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis

Ji He et al.

Summary: DNAJC7 has been identified as a novel ALS risk gene, with potentially damaging variants found in 3 sALS patients. However, these variants do not appear to play a major role in Chinese patients, with no enrichment of rare DNAJC7 variants in sALS patients. DNAJC7-related ALS patients tend to have a bulbar onset, expanding the understanding of the phenotypic and genetic spectrum of DNAJC7-related ALS.

NEUROBIOLOGY OF AGING (2021)

Article Clinical Neurology

Prognosis of amyotrophic lateral sclerosis patients undergoing tracheostomy invasive ventilation therapy in Japan

Naoki Hayashi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

Editorial Material Genetics & Heredity

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

Kang-Yang Jih et al.

NEUROLOGY-GENETICS (2020)

Article Geriatrics & Gerontology

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Ayumi Nishiyama et al.

NEUROBIOLOGY OF AGING (2017)

Review Neurosciences

The Hsp70/Hsp90 Chaperone Machinery in Neurodegenerative Diseases

Rachel E. Lackie et al.

FRONTIERS IN NEUROSCIENCE (2017)

Article Geriatrics & Gerontology

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

Ryoichi Nakamura et al.

NEUROBIOLOGY OF AGING (2016)

Article Clinical Neurology

Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients

Hazuki Watanabe et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Review Neurosciences

State of play in amyotrophic lateral sclerosis genetics

Alan E. Renton et al.

NATURE NEUROSCIENCE (2014)

Article Geriatrics & Gerontology

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

Kotaro Ogaki et al.

NEUROBIOLOGY OF AGING (2012)

Article Genetics & Heredity

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

Michael C. Wu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Biochemistry & Molecular Biology

Cofactor Tpr2 combines two TPR domains and a J domain to regulate the Hsp70/Hsp90 chaperone system

A Brychzy et al.

EMBO JOURNAL (2003)

Article Oncology

Molecular chaperone function of mammalian Hsp70 and Hsp40 - a review

K Ohtsuka et al.

INTERNATIONAL JOURNAL OF HYPERTHERMIA (2000)