Inventaire - 友達とコミュニティはあなたのベストな図書館です - Inventaire

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

著者

Shinya Yamamoto

Jill A Rosenfeld

Matthew T Pastore

Richard A Lewis

Zeynep Coban Akdemir

Brendan Lee

Hugo J. Bellen

Michael F. Wangler

James R. Lupski

Yaping Yang

Klaas J. Wierenga

この作品が含まれる作品: PLOS Genetics

出版日: 2017-07-24

Cites articles 50

Date

タイトル

著者

2017-03-21

Lessons learned from additional research analyses of unsolved clinical exome cases

Tomasz Gambin, Sébastien Küry, Davor Lessel, Michael F. Wangler, Jennifer E. Posey, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Seema R Lalani, Jill A Rosenfeld, Carlos A Bacino, Brett H Graham, Fernando Scaglia, Arthur L Beaudet, Theodore Chiang, Mohammad K Eldomery, Asbjørg Stray-Pedersen, Tamar Harel, Zeynep Coban Akdemir, Vernon Reid Sutton, Wojciech Wiszniewski, Shalini Jhangiani, Jordan Orange, Harsha Vardhan Doddapaneni, Sharon E Plon, Eric Boerwinkle
2017-01-05

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

John Pappas, Coral G. Warr, Shinya Yamamoto, Hugo J. Bellen, Undiagnosed Diseases Network
2017-01-25

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Jennifer E. Posey, Michael F. Wangler, Mohamad A. Mikati, Undiagnosed Diseases Network, James R. Lupski, Yaping Yang, Nicholas Stong, Stanley F Nelson
2016-08-31

Structure of the voltage-gated calcium channel Ca<sub>v</sub>1.1 at 3.6 Å resolution

顔寧
2016-08-17

Analysis of protein-coding genetic variation in 60,706 humans

Michael Boehnke, Sekar Kathiresan, Jaakko Tuomilehto, Markku Laakso, Karol Estrada, Aarno Palotie, タル・トゥキアイネン, Danish Saleheen, Gad Getz, Roberto Elosua, Adam Kiezun, Joanne Berghout, Pradeep Natarajan, James Ware, Hong-Hee Won, Douglas M. Ruderfer, Hugh Christian Watkins, Kaitlin E Samocha, Dongmei Yu, Eric Minikel, Christina M. Hultman, Mark Joseph Daly, Stacey Gabriel, Steven A McCarroll, Dermot McGovern, Patrick F. Sullivan, James G. Wilson, Pamela Sklar, John Danesh, Lorena Orozco, Benjamin M. Neale, Valentin Ruano Rubio, Eric Banks, Laura D. Gauthier, Namrata Gupta, Grace Tiao, Jeremiah M Scharf, Diego Ardissino, David Altshuler, Gina M Peloso, Konrad J. Karczewski, Timothy R Fennell, Anne H O'Donnell-Luria, David N. Cooper, Daniel P Howrigan, Mark McCarthy, Shaun M Purcell, Daniel G. MacArthur, Mark DePristo, Monkol Lek, Jason Flannick, Jack A Kosmicki, Menachem Fromer, Mitja Kurki, Ami Levy Moonshine, Khalid Shakir, Christine Stevens, Ruth McPherson, Ryan Poplin
2016-06-23

Uncoupling neuronal death and dysfunction in Drosophila models of neurodegenerative disease

Amit K Chouhan, Hugo J. Bellen
2016-01-04

ClinVar: public archive of interpretations of clinically relevant variants

Donna R. Maglott, Melissa Landrum
2016-01-01

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

Shinya Yamamoto, Yanning Rui, Manish Jaiswal, Bo Xiong, Hector Sandoval, Hugo J. Bellen
2016-11-30

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

José M Fernández-Fernández, Lorena Travaglini, Raffaella Cusmai, Sabina Barresi, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zanni, Emanuele Bellacchio, Marta Nardella, Alessandro Capuano, Roberto Frusciante
2015-08-06

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Eric Boerwinkle, Jay Shendure, Kaya Bilguvar, Donna Muzny, Elizabeth Blue, Debra Mathews, Tomasz Gambin, Martin Kircher, Ada Hamosh, Richard A Gibbs, Shalini Jhangiani
2015-05-18

Genome-wide patterns and properties of de novo mutations in humans

Cornelia M. van Duijn, Cisca Wijmenga, Sung Chun, Peter F Arndt, Victor Guryev, Laurent C Francioli, Morris A Swertz, Dorret Boomsma, Eline Slagboom
2015-03-26

A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis

Manish Jaiswal, Shinya Yamamoto, Hector Sandoval, Hugo J. Bellen, Chao Tong
2015-11-06

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Michael J Ackerman
2014-11-01

Molecular findings among patients referred for clinical whole-exome sequencing

Eric Boerwinkle, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, William J Craigen, Ankita Patel
2014-09-25

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Yesim Parman, James R. Lupski, Eric Boerwinkle, Esra Battaloğlu, Joep de Ligt, Donna Muzny, Manish Jaiswal, Hector Sandoval, Tomasz Gambin, Zhandong Liu, Shinya Yamamoto, Hugo J. Bellen, Bo Xiong, Michael F. Wangler, William B. Dobyns, Richard A Gibbs, Shalini Jhangiani, Ender Karaca
2014-10-01

Large-scale identification of chemically induced mutations in Drosophila melanogaster

Hector Sandoval, Berrak Uğur, Bo Xiong, Manish Jaiswal, Koen Venken, Shinya Yamamoto, Hugo J. Bellen
2014-07-15

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Luisa Bonafé
2014-03-27

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Claudia Gonzaga-Jauregui, Tomasz Gambin, Austin Larson, Michael F. Wangler, James R. Lupski, Richard A Gibbs, Donna Muzny, Yaping Yang, Carlos A Bacino, Shalini Jhangiani
2014-01-29

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

Eric Boerwinkle, Donna Muzny
2014-11-03

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine
2014-07-16

Phenotypic variability in a four generation family with a p.Thr666Met CACNA1A gene mutation
2013-10-02

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang
2012-01-12

An integrative variant analysis suite for whole exome next-generation sequencing data

Jin Yu, Aleksandar Milosavljevic
2011-08-01

Voltage-gated calcium channels
2011-11-01

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene
2010-09

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2010-03-04

CaV2.1 channelopathies
2010-08-01

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

David N. Cooper, Matthew Mort
2010-01-21

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev
2009-08-15

The Sequence Alignment/Map format and SAMtools

リチャード・ダービン, Heng Li, Gonçalo Abecasis, Jue Ruan
2008-06-26

The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation

Norbert Weiss, Michel De Waard, Ricardo Felix
2007-04-01

Episodic ataxia type 2.

Michael Strupp

記事 - wd:Q41414883

Welcome to Inventaire

友達やコミュニティの図書館

もっと調べる

you are offline